Fetal anomalies (Version 1.255)

Description

The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.

Common example clinical indications include:
• Multiple structural anomalies
• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)
• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)
• Major CNS abnormalities (excluding neural tube defects)
• Multiple contractures (excluding isolated bilateral talipes)
• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)
• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).

Chromosomal microarray is strongly recommended prior to genomic testing.

More targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.

This panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.

Panel Activity

49 reviewers

George McGillivray (Victorian Clinical Genetics Services)
Kristin Rigbye (Victorian Clinical Genetics Services)
Andrew Fennell (Monash Genetics)
Elizabeth Palmer (University of New South Wales)
Belinda Chong (Victorian Clinical Genetics Services)
John Christodoulou (Murdoch Children's Research Institute)
Lauren Akesson (Royal Melbourne Hospital)
Natalie Tan (Victorian Clinical Genetics Services)
Sebastian Lunke (Victorian Clinical Genetics Services)
Chris Richmond (Genetic Health Queensland)
Sue White (Victorian Clinical Genetics Services)
Tegan French (Victorian Clinical Genetics Services)
Tiong Tan (Victorian Clinical Genetics Services)
Alison Yeung (Victorian Clinical Genetics Services)
Lauren Rogers (Victorian Clinical Genetics Services)
Anna Le Fevre (Victorian Clinical Genetics Services)
Konstantinos Varvagiannis (Other)
Sarah Donoghue (Royal Children's Hospital)
Paul De Fazio (Victorian Clinical Genetics Services)
Chloe Stutterd (Victorian Clinical Genetics Services)
Vivian WEI (Victorian Clinical Genetics Services)
Arina Puzriakova (Genomics England)
Danielle Ariti (University of Melbourne)
Belinda Chong (Victorian Clinical Genetics Services)
Rylee Peters (Victorian Clinical Genetics Services)
Teresa Zhao (Victorian Clinical Genetics Services)
Chirag Patel (Genetic Health Queensland)
Lilian Downie (Victorian Clinical Genetics Services)
Ain Roesley (Victorian Clinical Genetics Services)
Krithika Murali (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Suliman Khan (Victorian Clinical Genetics Services)
Lucy Spencer (Victorian Clinical Genetics Services)
Dean Phelan (Victorian Clinical Genetics Services)
Crystle Lee (Victorian Clinical Genetics Services)
Sarah Pantaleo (Victorian Clinical Genetics Services)
Seb Lunke (Victorian Clinical Genetics Services)
Melanie Marty (Victorian Clinical Genetics Services)
Naomi Baker (Victorian Clinical Genetics Services)
Paul De Fazio (Victorian Clinical Genetics Services)
Karina Sandoval (Victorian Clinical Genetics Services)
Ee Ming Wong (Victorian Clinical Genetics Services)
Daniel Flanagan (Victorian Clinical Genetics Services)
Chris Ciotta (Victorian Clinical Genetics Services)
Michelle Torres (Victorian Clinical Genetics Services)
Chern Lim (Victorian Clinical Genetics Services)
Santosh Varughese (University of Melbourne)
Bryony Thompson (Royal Melbourne Hospital)
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

2146 Entities

2146 reviewed, 1439 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 2146 Entitiess
Green Green List (high evidence)	AARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Developmental and epileptic encephalopathy 29, OMIM:616339 Developmental and epileptic encephalopathy, 29, MONDO:0014593 Tags new gene name
Green Green List (high evidence)	ABCA12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Ichthyosis, congenital, autosomal recessive 4B (harlequin), MIM# 242500 Tags
Green Green List (high evidence)	ABCC6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Genomics England PanelApp Phenotypes Arterial calcification, generalized, of infancy, 2, MIM# 614473 Tags SV/CNV
Green Green List (high evidence)	ABCC9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Hypertrichotic osteochondrodysplasia, MIM# 239850 Tags
Green Green List (high evidence)	ABHD16A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 86, autosomal recessive, MIM# 619735 Tags
Green Green List (high evidence)	ABL1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Congenital heart defects and skeletal malformations syndrome, MONDO:0060532 Congenital heart defects and skeletal malformations, OMIM:617602 Tags
Green Green List (high evidence)	ACAD9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126 Tags
Green Green List (high evidence)	ACADVL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes VLCAD deficiency, MIM# 201475 Tags
Green Green List (high evidence)	ACAN	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Spondyloepimetaphyseal dysplasia, aggrecan type, OMIM# 612813 Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, OMIM# 165800 Tags
Green Green List (high evidence)	ACE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Renal tubular dysgenesis, MIM# 267430 Tags
Green Green List (high evidence)	ACOX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470 Tags
Green Green List (high evidence)	ACP5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Spondyloenchondrodysplasia with immune dysregulation, OMIM# 607944 Tags
Green Green List (high evidence)	ACSL4	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Mental retardation, X-linked 63 , MIM#300387 Tags
Green Green List (high evidence)	ACTA1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Myopathy, actin, congenital, with excess of thin myofilaments, MIM#161800 Nemaline myopathy 3, MIM#161800 Myopathy, actin, congenital, with cores, MIM#161800 Tags
Green Green List (high evidence)	ACTA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Multisystemic smooth muscle dysfunction syndrome - MIM# 613834 Tags
Green Green List (high evidence)	ACTB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Baraitser-Winter syndrome 1, MIM#243310 Tags
Green Green List (high evidence)	ACTC1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Atrial septal defect 5, MIM# 612794 Cardiomyopathy, hypertrophic, 11 MIM# 612098 Tags
Green Green List (high evidence)	ACTG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Baraitser-Winter syndrome 2, MIM#614583 Tags
Green Green List (high evidence)	ACTG2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431 Tags
Green Green List (high evidence)	ACVR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Fibrodysplasia ossificans progressiva, MIM# 135100 Congenital heart disease Tags clinical trial
Green Green List (high evidence)	ACVRL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376 Tags
Green Green List (high evidence)	ACY1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Aminoacylase 1 deficiency, MIM# 609924 Tags
Green Green List (high evidence)	ADAMTS10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Weill-Marchesani syndrome 1, recessive, MIM#277600 Tags
Green Green List (high evidence)	ADAMTS15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Arthrogryposis, distal, type 12, MIM# 620545 Tags
Green Green List (high evidence)	ADAMTS17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Weill-Marchesani 4 syndrome, recessive, MIM# 613195 Tags
Green Green List (high evidence)	ADAMTS19	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Cardiac valvular dysplasia 2, MIM# 620067 Tags
Green Green List (high evidence)	ADAMTS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Hennekam lymphangiectasia-lymphoedema syndrome 3, OMIM:618154 Hennekam lymphangiectasia-lymphoedema syndrome 3, MONDO:0032564 Tags
Green Green List (high evidence)	ADAMTSL2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Geleophysic dysplasia 1, MIM#231050 Tags
Green Green List (high evidence)	ADCY6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Lethal congenital contracture syndrome 8, MIM#616287 MONDO:0014570 Tags
Green Green List (high evidence)	ADD1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Neurodevelopmental disorder MONDO:0700092, ADD1-related Tags
Green Green List (high evidence)	ADGRG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Brain Malformations Flagship Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Polymicrogyria, bilateral frontoparietal, MIM#606854 Tags 5'UTR SV/CNV
Green Green List (high evidence)	ADGRG6	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Lethal congenital contracture syndrome 9, OMIM #616503 Tags
Green Green List (high evidence)	ADNP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Helsmoortel-van der Aa syndrome MIM#615873 MONDO:0014379 Tags
Green Green List (high evidence)	ADSL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Adenylosuccinase deficiency, MIM# 103050 Tags
Green Green List (high evidence)	AFF3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes KINSSHIP syndrome, MIM# 619297 Tags
Green Green List (high evidence)	AFF4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes CHOPS syndrome, MIM#616368 MONDO:0014609 Tags
Green Green List (high evidence)	AGK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Sengers syndrome, MIM#212350 Tags
Green Green List (high evidence)	AGPS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Rhizomelic chondrodysplasia punctata, type 3, MIM#600121 Tags
Green Green List (high evidence)	AGT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Renal tubular dysgenesis, MIM# 267430 Tags
Green Green List (high evidence)	AGTR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Renal tubular dysgenesis, MIM# 267430 Tags
Green Green List (high evidence)	AHDC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Xia-Gibbs syndrome, MIM# 615829 AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome MONDO:0014358 Tags
Green Green List (high evidence)	AHI1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Joubert syndrome 3, MIM# 608629 Tags
Green Green List (high evidence)	AIMP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Leukodystrophy, hypomyelinating, 3, MIM# 260600 Tags
Green Green List (high evidence)	AKT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Cowden syndrome 6, MIM#615109 Proteus syndrome, somatic, MIM# 176920 Tags
Green Green List (high evidence)	AKT2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416 Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900 Tags
Green Green List (high evidence)	AKT3	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Expert Review Red Genomics England PanelApp Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937) Tags
Green Green List (high evidence)	AL117258.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Heterotaxy congenital heart defects Tags
Green Green List (high evidence)	ALB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Analbuminemia, MIM#616000 Tags
Green Green List (high evidence)	ALDH18A1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Cutis laxa, autosomal dominant 3, MIM# 616603 Cutis laxa, autosomal recessive, type IIIA, MIM# 219150 Tags
Green Green List (high evidence)	ALDH1A2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Diaphragmatic hernia 4, with cardiovascular defects, MIM# 620025 Tags
Green Green List (high evidence)	ALDH1A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Microphthalmia, isolated 8, MIM# 615113 Tags
Green Green List (high evidence)	ALG1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Congenital disorder of glycosylation, type Ik, MIM# 608540 Tags
Green Green List (high evidence)	ALG12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Congenital disorder of glycosylation, type Ig, MIM# 607143 Tags
Green Green List (high evidence)	ALG14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Myasthenic syndrome, congenital, 15, without tubular aggregates 616227 Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036 Tags
Green Green List (high evidence)	ALG3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Congenital disorder of glycosylation, type Id, MIM# 601110 Tags
Green Green List (high evidence)	ALG6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Congenital disorder of glycosylation, type Ic (MIM#603147) Tags
Green Green List (high evidence)	ALG8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Congenital disorder of glycosylation, type Ih, MIM# 608104 Tags
Green Green List (high evidence)	ALG9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Congenital disorder of glycosylation, type Il, MIM#608776 Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210 Tags
Green Green List (high evidence)	ALMS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Alstrom syndrome, MIM# 203800 Tags
Green Green List (high evidence)	ALPK3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Expert Review Green Literature Phenotypes Cardiomyopathy, familial hypertrophic 27 - #618052 Tags
Green Green List (high evidence)	ALPL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Hypophosphatasia, infantile MIM# 241500 Tags
Green Green List (high evidence)	ALX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Frontonasal dysplasia 3, MIM#613456 Tags
Green Green List (high evidence)	ALX3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Frontonasal dysplasia 1, MIM#136760 Tags
Green Green List (high evidence)	ALX4	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Frontonasal dysplasia 2, MIM# 613451 Parietal foramina 2, MIM# 609597 Tags
Green Green List (high evidence)	AMBRA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Neural tube defects Tags
Green Green List (high evidence)	AMER1	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genomics England PanelApp Phenotypes Osteopathia striata with cranial sclerosis, MIM# 300373 Tags
Green Green List (high evidence)	AMOTL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Orofacial clefting syndrome, MONDO:0015335, AMOTL1-related Tags
Green Green List (high evidence)	AMPD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Pontocerebellar hypoplasia, type 9, MIM#615809 Tags
Green Green List (high evidence)	AMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Glycine encephalopathy, MIM# 605899 Tags
Green Green List (high evidence)	ANAPC1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Rothmund-Thomson syndrome, type 1, MIM# 618625 Tags
Green Green List (high evidence)	ANGPT2	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hydrops fetalis, MONDO:0015193 Lymphatic malformation-10, MIM#619369 Tags
Green Green List (high evidence)	ANKH	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Craniometaphyseal dysplasia, MIM#123000 Tags
Green Green List (high evidence)	ANKLE2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Microcephaly 16, primary, autosomal recessive, MIM# 616681 Tags
Green Green List (high evidence)	ANKRD11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes KBG syndrome, MIM# 148050 Tags
Green Green List (high evidence)	ANKRD17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Chopra-Amiel-Gordon syndrome - MIM#619504 multiple congenital malformations Tags
Green Green List (high evidence)	ANKS6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Phenotypes Nephronophthisis 16, MIM# 615382 MONDO:0014158 Tags
Green Green List (high evidence)	ANOS1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Phenotypes Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700 Tags
Green Green List (high evidence)	ANTXR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes GAPO syndrome, MIM# 230740 Tags
Green Green List (high evidence)	ANTXR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Hyaline fibromatosis syndrome, MIM# 228600 MONDO:0009229 Tags
Green Green List (high evidence)	AP1S2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Pettigrew syndrome, OMIM:304340 Tags
Green Green List (high evidence)	AP4B1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Spastic paraplegia 47, autosomal recessive, OMIM:614066 Hereditary spastic paraplegia 47, MONDO:0013551 Tags
Green Green List (high evidence)	AP4E1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Spastic paraplegia 51, autosomal recessive, MIM# 613744 MONDO:0013401 Tags
Green Green List (high evidence)	AP4M1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Spastic paraplegia 50, autosomal recessive, MIM# 612936 Tags
Green Green List (high evidence)	AP4S1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Spastic paraplegia 52, autosomal recessive, MIM# 614067 Tags
Green Green List (high evidence)	APC2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cortical dysplasia, complex, with other brain malformations 10, MIM#618677 Tags
Green Green List (high evidence)	AR	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Androgen insensitivity, MIM# 300068 Androgen insensitivity syndrome, MONDO:0019154 Tags
Green Green List (high evidence)	ARCN1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164 Microcephalic dwarfism Tags
Green Green List (high evidence)	ARF1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Periventricular nodular heterotopia 8 (MIM#618185) Tags
Green Green List (high evidence)	ARFGEF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Periventricular heterotopia with microcephaly, OMIM:608097 Tags
Green Green List (high evidence)	ARHGAP29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Clefting disorder, MONDO:0000358, ARHGAP29-related Tags
Green Green List (high evidence)	ARHGAP31	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Adams-Oliver syndrome 1, MIM#100300 Tags
Green Green List (high evidence)	ARID1A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Coffin-Siris syndrome 2 (MIM#614607) Tags
Green Green List (high evidence)	ARID1B	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Coffin-Siris syndrome 1, MIM 135900 Tags
Green Green List (high evidence)	ARID2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Coffin-Siris syndrome 6, MIM# 617808 Tags
Green Green List (high evidence)	ARL13B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Joubert syndrome 8, 612291 Tags
Green Green List (high evidence)	ARL3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome 35- MIM#618161 Tags
Green Green List (high evidence)	ARL6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Phenotypes Bardet-Biedl syndrome 3, MIM# 600151 Tags
Green Green List (high evidence)	ARMC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 23, MIM# 615451 Tags new gene name
Green Green List (high evidence)	ARMC9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Joubert syndrome 30, MIM# 617622 Tags
Green Green List (high evidence)	ARSB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200 MONDO:0009661 Tags
Green Green List (high evidence)	ARSE	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Chondrodysplasia punctata, X-linked recessive, MIM# 302950 Tags
Green Green List (high evidence)	ARX	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Hydranencephaly with abnormal genitalia, MIM# 300215 Lissencephaly, X-linked 2, MIM# 300215 Tags
Green Green List (high evidence)	ASAH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Farber lipogranulomatosis, MIM# 228000 Tags
Green Green List (high evidence)	ASCC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Spinal muscular atrophy with congenital bone fractures 2 MIM#616867 Tags
Green Green List (high evidence)	ASNS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Asparagine synthetase deficiency, MIM#615574 Tags
Green Green List (high evidence)	ASPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Canavan disease, MIM# 271900 Tags
Green Green List (high evidence)	ASPM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Microcephaly 5, primary, autosomal recessive, MIM#608716 Tags
Green Green List (high evidence)	ASXL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Bohring-Opitz syndrome , MIM#605039 Tags
Green Green List (high evidence)	ASXL2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes Shashi-Pena syndrome, MIM# 617190 Tags
Green Green List (high evidence)	ATAD1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Hyperekplexia 4 - #618011 Tags
Green Green List (high evidence)	ATAD3A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Harel-Yoon syndrome, MIM# 617183 Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME) 618810 Tags
Green Green List (high evidence)	ATIC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes AICA-ribosiduria due to ATIC deficiency, MIM# 608688 Tags
Green Green List (high evidence)	ATN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Phenotypes Congenital hypotonia, epilepsy, developmental delay, and digital anomalies - MIM#618494 Tags
Green Green List (high evidence)	ATP1A2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602 Developmental and epileptic encephalopathy 98, MIM# 619605 Tags
Green Green List (high evidence)	ATP1A3	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Literature Phenotypes Developmental and epileptic encephalopathy 99, MIM# 619606 Polymicrogyria Tags
Green Green List (high evidence)	ATP5O	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359 Tags
Green Green List (high evidence)	ATP6V0A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Cutis laxa, autosomal recessive, type IIA, MIM# 219200 Wrinkly skin syndrome, MIM#278250 Tags
Green Green List (high evidence)	ATP6V1B2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Zimmermann-Laband syndrome 2, MIM# 616455 Deafness, congenital, with onychodystrophy, autosomal dominant, MIM# 124480 Tags
Green Green List (high evidence)	ATP7A	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Phenotypes Menkes disease, MIM# 309400 Tags treatable
Green Green List (high evidence)	ATR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Seckel syndrome 1, MONDO:0008869 Seckel syndrome 1, OMIM:210600 Tags
Green Green List (high evidence)	ATRX	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes ATR-X-related syndrome MONDO:0016980 Tags
Green Green List (high evidence)	AUTS2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Intellectual developmental disorder, autosomal dominant 26, MIM# 615834 Tags SV/CNV
Green Green List (high evidence)	B3GALNT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181 MONDO:0014071 Tags
Green Green List (high evidence)	B3GALT6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Al-Gazali syndrome, MIM# 609465 Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM#615349 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM#271640 Tags
Green Green List (high evidence)	B3GAT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600 Tags
Green Green List (high evidence)	B3GLCT	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Literature Phenotypes Peters-plus syndrome, MIM#261540 Tags
Green Green List (high evidence)	B4GALT7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070 Tags
Green Green List (high evidence)	B4GAT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287 Tags
Green Green List (high evidence)	B9D1	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Meckel syndrome 9, MONDO:0013630 Joubert syndrome 27, OMIM:617120 Meckel syndrome 9, OMIM:614209 Joubert syndrome 27, MONDO:0014927 Tags
Green Green List (high evidence)	B9D2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Joubert syndrome 34, OMIM:614175 Meckel syndrome 10, OMIM:614175 Meckel syndrome, type 10, MONDO:0013609 Tags
Green Green List (high evidence)	BBS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 1 MONDO:0008854 Bardet-Biedl syndrome 1 OMIM:209900 Tags
Green Green List (high evidence)	BBS10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 10, MIM# 615987 Tags
Green Green List (high evidence)	BBS12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 12, MIM# 615989 Tags
Green Green List (high evidence)	BBS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 2, MIM# 615981 Tags
Green Green List (high evidence)	BBS4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Phenotypes Bardet-Biedl syndrome 4, MIM#615982 MONDO:0014433 Tags
Green Green List (high evidence)	BBS5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Phenotypes Bardet-Biedl syndrome 5, MIM#615983 MONDO:0014434 Tags
Green Green List (high evidence)	BBS7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Phenotypes Bardet-Biedl syndrome 7, MIM# 615984 MONDO:0014435 Tags
Green Green List (high evidence)	BBS9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Phenotypes Bardet-Biedl syndrome 9, MIM#615986 MONDO:0014437 Tags
Green Green List (high evidence)	BCAP31	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Deafness, dystonia, and cerebral hypomyelination, MIM# 300475 Tags
Green Green List (high evidence)	BCAS3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Hengel-Maroofian-Schols syndrome, MIM# 619641 Tags
Green Green List (high evidence)	BCL11A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Dias-Logan syndrome, MIM# 617101 Tags
Green Green List (high evidence)	BCOR	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Microphthalmia, syndromic 2, MIM# 300166 Oculofaciocardiodental syndrome Lenz microphthalmia Tags
Green Green List (high evidence)	BCS1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Bjornstad syndrome, MIM# 262000 Leigh syndrome, MIM# 256000 BCS1L-related mitochondrial disease Tags
Green Green List (high evidence)	BFSP2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Cataract 12, multiple types, MIM# 611597 Tags
Green Green List (high evidence)	BHLHA9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Syndactyly, mesoaxial synostotic, with phalangeal reduction, MIM# 609432 Tags
Green Green List (high evidence)	BICD2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Literature Phenotypes Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant 615290 Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant 618291 Tags
Green Green List (high evidence)	BIN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Centronuclear myopathy 2, MIM# 255200 Tags
Green Green List (high evidence)	BLM	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Bloom Syndrome MIM# 210900 Tags
Green Green List (high evidence)	BMP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Osteogenesis imperfecta, type XIII , MIM#614856 Tags
Green Green List (high evidence)	BMP2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1, MIM# 617877 Tags
Green Green List (high evidence)	BMP4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Orofacial cleft 11 600625 Microphthalmia, syndromic 6, MIM# 607932 Tags SV/CNV
Green Green List (high evidence)	BMPER	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Diaphanospondylodysostosis, MIM#608022 Tags
Green Green List (high evidence)	BMPR1B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Acromesomelic dysplasia, Demirhan type, MIM# 609441 Tags
Green Green List (high evidence)	BNC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Lower urinary tract obstruction, congenital, MIM #618612 Tags
Green Green List (high evidence)	BRAF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Noonan syndrome 7, MIM# 613706 Cardiofaciocutaneous syndrome, MIM# 115150 Tags
Green Green List (high evidence)	BRAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056 Rigidity and multifocal seizure syndrome, lethal neonatal, MIM# 614498 Tags
Green Green List (high evidence)	BRCA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Fanconi anaemia, complementation group S, MIM# 617883 Tags
Green Green List (high evidence)	BRCA2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Fanconi anaemia, complementation group D1, MIM# 605724 Tags
Green Green List (high evidence)	BRD4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Cornelia de Lange syndrome, MONDO:0016033 Tags
Green Green List (high evidence)	BRF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebellofaciodental syndrome - MIM#616202 Tags
Green Green List (high evidence)	BRIP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Victorian Clinical Genetics Services Phenotypes Fanconi anemia, complementation group J, MIM# 609054 Tags
Green Green List (high evidence)	BRPF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Intellectual developmental disorder with dysmorphic facies and ptosis, MIM# 617333 MONDO:0015022 Tags
Green Green List (high evidence)	BSND	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Bartter syndrome, type 4a, MIM#602522 Tags
Green Green List (high evidence)	BUB1B	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Mosaic variegated aneuploidy syndrome 1, MIM# 257300 Tags
Green Green List (high evidence)	C11orf70	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 38, MIM# 618063 Tags
Green Green List (high evidence)	C12orf57	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Temtamy syndrome, MIM#218340 Tags
Green Green List (high evidence)	C16orf62	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135 Tags
Green Green List (high evidence)	C1QBP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Combined oxidative phosphorylation deficiency 33, MIM# 617713 severe neonatal cardiomyopathy Tags
Green Green List (high evidence)	C21orf2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Spondylometaphyseal dysplasia, axial, MIM# 602271 Tags
Green Green List (high evidence)	C21orf59	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Primary ciliary dyskinesia 26, MONDO:0014211 Ciliary dyskinesia, primary, 26, OMIM:615500 Tags founder new gene name
Green Green List (high evidence)	C2CD3	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Orofaciodigital syndrome XIV, MIM# 615948 MONDO:0014413 Tags
Green Green List (high evidence)	C2orf69	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423 Tags
Green Green List (high evidence)	C5orf42	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Joubert syndrome 17, MIM# 614615 MONDO:0013824 Orofaciodigital syndrome VI, MIM# 277170 Tags new gene name
Green Green List (high evidence)	CA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730 Tags
Green Green List (high evidence)	CACHD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes syndromic complex neurodevelopmental disorder MONDO:0800439 Tags
Green Green List (high evidence)	CACNA1C	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Timothy syndrome, MIM# 601005 Long QT syndrome 8, MIM# 618447 Tags
Green Green List (high evidence)	CACNA1D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474 Tags
Green Green List (high evidence)	CACNA1E	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Literature Phenotypes Epileptic encephalopathy, early infantile, 69, MIM#618285 Tags
Green Green List (high evidence)	CANT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Desbuquois dysplasia 1, MIM# 251450 Tags
Green Green List (high evidence)	CAPN15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Oculogastrointestinal neurodevelopmental syndrome, MIM# 619318 microphthalmia HP:0000568 coloboma HP:0000589 Tags
Green Green List (high evidence)	CASK	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes FG syndrome 4, MIM# 300422 Mental retardation, with or without nystagmus, MIM# 300422 Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749 Tags
Green Green List (high evidence)	CASP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, MIM# 620653 Tags
Green Green List (high evidence)	CBL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563 Tags
Green Green List (high evidence)	CC2D2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Joubert syndrome 9, MIM# 612285 Meckel syndrome 6, MIM# 612284 COACH syndrome 2, MIM# 619111 Tags
Green Green List (high evidence)	CCBE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510 Tags
Green Green List (high evidence)	CCDC103	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 17, MIM# 614679 Tags
Green Green List (high evidence)	CCDC114	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 20, MIM# 615067 Tags new gene name
Green Green List (high evidence)	CCDC151	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Primary ciliary dyskinesia 30, MONDO:0014465 Ciliary dyskinesia, primary, 30, OMIM:616037 Tags new gene name
Green Green List (high evidence)	CCDC22	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Phenotypes Ritscher-Schinzel syndrome 2, MIM# 300963 Tags
Green Green List (high evidence)	CCDC39	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 14, MIM# 613807 Tags
Green Green List (high evidence)	CCDC40	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 15, MIM#613808 Tags
Green Green List (high evidence)	CCDC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes 3M syndrome 3, MONDO:0013627 3-M syndrome 3, OMIM:614205 Tags
Green Green List (high evidence)	CCDC88C	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Hydrocephalus, nonsyndromic, autosomal recessive 1, MONDO:0009360 Hydrocephalus, congenital, 1, OMIM:236600 Tags
Green Green List (high evidence)	CCND2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 MIM#615938 Tags
Green Green List (high evidence)	CDAN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Dyserythropoietic anemia, congenital, type Ia, OMIM#224120 Tags
Green Green List (high evidence)	CDC45	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Meier-Gorlin syndrome 7, MIM 617063 Tags
Green Green List (high evidence)	CDH1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Blepharocheilodontic syndrome 1, MIM# 119580 Tags
Green Green List (high evidence)	CDH3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280 Tags
Green Green List (high evidence)	CDK10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Al Kaissi syndrome MIM#617694 Tags
Green Green List (high evidence)	CDK13	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360 Tags
Green Green List (high evidence)	CDK5RAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Microcephaly 3, primary, autosomal recessive, MONDO:0011488 Microcephaly 3, primary, autosomal recessive, OMIM:604804 Tags
Green Green List (high evidence)	CDK8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability dysmorphism congenital abnormalities seizures Tags
Green Green List (high evidence)	CDKL5	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genomics England PanelApp Phenotypes Developmental and epileptic encephalopathy 2, MIM# 300672 Tags
Green Green List (high evidence)	CDKN1C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Beckwith-Wiedemann syndrome, MIM# 130650 IMAGe syndrome, MIM# 614732 Silver-Russell syndrome Tags
Green Green List (high evidence)	CDON	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Holoprosencephaly 11, MIM# 614226 MONDO:0013642 Tags
Green Green List (high evidence)	CDT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Meier-Gorlin syndrome 4, MIM#613804 Tags
Green Green List (high evidence)	CDX2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Genetic multiple congenital anomalies/dysmorphic syndrome, MONDO:0043005 Congenital abnormalities of anus, renal and urogenital system, vertebrae and/or the limbs Tags
Green Green List (high evidence)	CELSR1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Lymphatic malformation 9, MIM# 619319 Tags
Green Green List (high evidence)	CELSR3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), CELSR3-related Tags
Green Green List (high evidence)	CENPF	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Genomics England PanelApp Literature Phenotypes Stromme syndrome, MIM#243605 Tags
Green Green List (high evidence)	CENPJ	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Microcephaly 6, primary, autosomal recessive, MIM# 608393 Seckel syndrome 4, MIM# 613676 Tags
Green Green List (high evidence)	CEP104	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Joubert syndrome 25, MIM# 616781 MONDO:0014770 Tags
Green Green List (high evidence)	CEP120	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Joubert syndrome 31, MIM# 617761 Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300 Tags
Green Green List (high evidence)	CEP135	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Microcephaly 8, primary, autosomal recessive, OMIM:614673 Microcephaly 8, primary, autosomal recessive, MONDO:0013849 Microcephalic primordial dwarfism Tags
Green Green List (high evidence)	CEP152	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Microcephaly 9, primary, autosomal recessive, MIM# 614852 MONDO:0013923 Seckel syndrome 5, MIM# 613823 MONDO:0013443 Tags
Green Green List (high evidence)	CEP164	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Phenotypes Bardet-Biedl syndrome Nephronophthisis 15, MIM# 614845 Oro-facio-digital syndrome Tags
Green Green List (high evidence)	CEP290	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 14, MIM# 615991 Joubert syndrome 5, MIM# 610188 Meckel syndrome 4, MIM# 611134 Tags
Green Green List (high evidence)	CEP41	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Joubert syndrome 15, MIM# 614464 Tags
Green Green List (high evidence)	CEP55	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500 lethal CEP55-related syndromes Tags
Green Green List (high evidence)	CEP57	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Mosaic variegated aneuploidy syndrome 2, #MIM 614114 Tags
Green Green List (high evidence)	CEP83	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Nephronophthisis 18, MIM# 615862 MONDO:0014374 Hydrocephalus ID Tags
Green Green List (high evidence)	CEP85L	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Lissencephaly 10, posterior predominant (MIM618873) Tags
Green Green List (high evidence)	CFAP45	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Heterotaxy, visceral, 11, autosomal, with male infertility, MIM#619608 Tags
Green Green List (high evidence)	CFAP52	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Heterotaxy, visceral, 10, autosomal, with male infertility, MIM#619607 Tags
Green Green List (high evidence)	CFAP53	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Heterotaxy, visceral, 6, autosomal recessive 614779 Tags
Green Green List (high evidence)	CFC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Heterotaxy, visceral, 2, autosomal 605376 Tags
Green Green List (high evidence)	CFTR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Cystic fibrosis, MIM# 219700 Tags
Green Green List (high evidence)	CHAMP1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Mental retardation, autosomal dominant 40 (MIM#616579) microcephaly Tags
Green Green List (high evidence)	CHAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Myasthenic syndrome, congenital, 6, presynaptic 254210 Tags
Green Green List (high evidence)	CHD4	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Sifrim-Hitz-Weiss syndrome MONDO:0014946 Sifrim-Hitz-Weiss syndrome OMIM:617159 Tags
Green Green List (high evidence)	CHD7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes CHARGE syndrome, MIM# 214800 Tags
Green Green List (high evidence)	CHKB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Muscular dystrophy, congenital, megaconial type, MIM# 602541 Tags
Green Green List (high evidence)	CHMP1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Pontocerebellar hypoplasia type 8, MONDO:0013990 Pontocerebellar hypoplasia, type 8, OMIM:614961 Tags
Green Green List (high evidence)	CHRNA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Multiple pterygium syndrome, lethal type, MIM# 253290 MONDO:0009668 Tags
Green Green List (high evidence)	CHRNA3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, MIM# 191800 Tags
Green Green List (high evidence)	CHRNB1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313 Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 Tags
Green Green List (high evidence)	CHRND	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Multiple pterygium syndrome, lethal type, MIM# 253290 MONDO:0009668 Tags
Green Green List (high evidence)	CHRNE	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Myasthenic syndrome, congenital, 4A, slow-channel, 605809 Myasthenic syndrome, congenital, 4B, fast-channel, 616324 Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 Tags
Green Green List (high evidence)	CHRNG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Escobar syndrome, MIM# 265000 Multiple pterygium syndrome, lethal type, MIM# 253290 MONDO:0009926 MONDO:0009668 Tags
Green Green List (high evidence)	CHST14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1, MIM#601776 Tags
Green Green List (high evidence)	CHST3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations, MIM# 143095 Tags
Green Green List (high evidence)	CHSY1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Temtamy preaxial brachydactyly syndrome, MIM# 605282 CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Tags
Green Green List (high evidence)	CIT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Microcephaly 17, primary, autosomal recessive, OMIM:617090 Microcephaly 17, primary, autosomal recessive, MONDO:0014908 Tags
Green Green List (high evidence)	CITED2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Atrial septal defect 8 - MIM#614433 Ventricular septal defect 2 - MIM#614431 Congenital heart disease Tags
Green Green List (high evidence)	CKAP2L	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Filippi syndrome, MIM# 272440 Tags
Green Green List (high evidence)	CLCN7	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541 Osteopetrosis, autosomal recessive 4, MIM# 611490 Tags
Green Green List (high evidence)	CLCNKB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Bartter syndrome, type 3, MIM#607364 Bartter syndrome, type 4b, digenic, MIM#613090 Tags
Green Green List (high evidence)	CLMP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Congenital short bowel syndrome , MIM#615237 Tags
Green Green List (high evidence)	CLP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Pontocerebellar hypoplasia, type 10, OMIM:615803 Pontocerebellar hypoplasia type 10, MONDO:0014349 Tags
Green Green List (high evidence)	CLPB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271 Tags
Green Green List (high evidence)	CLTC	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Mental retardation, autosomal dominant 56, MIM# 617854 Tags
Green Green List (high evidence)	CNOT2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies 618608 Tags
Green Green List (high evidence)	CNOT3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Intellectual developmental disorder with speech delay, autism, and dysmorphic facies , MIM#618672 Tags
Green Green List (high evidence)	CNTNAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Hypomyelinating neuropathy, congenital, 3, MIM#618186 Lethal congenital contracture syndrome 7, MIM# 616286 Tags
Green Green List (high evidence)	CNTNAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Cortical dysplasia-focal epilepsy syndrome, MIM# 610042 Tags
Green Green List (high evidence)	COASY	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Literature Phenotypes Pontocerebellar hypoplasia microcephaly arthrogryposis Tags
Green Green List (high evidence)	COG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIg, MIM# 611209 Tags
Green Green List (high evidence)	COG4	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIj 613489 Saul-Wilson syndrome, MIM #618150 Tags
Green Green List (high evidence)	COG5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes COG5-CDG, MONDO:0013325 Congenital disorder of glycosylation, type III, OMIM:613612 Tags
Green Green List (high evidence)	COG6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Congenital disorder of glycosylation, type IIl, 614576 Shaheen syndrome, 615328 Tags
Green Green List (high evidence)	COG7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIe , MIM#608779 Tags
Green Green List (high evidence)	COG8	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Literature Phenotypes Congenital disorder of glycosylation, type IIh, MIM# 611182 Tags
Green Green List (high evidence)	COL10A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Metaphyseal chondrodysplasia, Schmid type, MIM#156500 Tags
Green Green List (high evidence)	COL11A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Fibrochondrogenesis 1, MIM# 228520 Marshall syndrome, MIM# 154780 Tags
Green Green List (high evidence)	COL11A2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Fibrochondrogenesis 2, MIM# 614524 Otospondylomegaepiphyseal dysplasia, autosomal recessive, MIM# 215150 Tags
Green Green List (high evidence)	COL12A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Ullrich congenital muscular dystrophy 2, 616470 Bethlem myopathy 2, 616471 Tags
Green Green List (high evidence)	COL13A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Myasthenic syndrome, congenital, 19, OMIM:616720 Congenital myasthenic syndrome 19, MONDO:0014745 Tags
Green Green List (high evidence)	COL18A1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Knobloch syndrome, type 1 MIM# 267750 Tags
Green Green List (high evidence)	COL1A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes Caffey disease, MIM#114000 Ehlers-Danlos syndrome, arthrochalasia type, 1, MIM#130060 Osteogenesis imperfecta, type I, MIM#166200 Osteogenesis imperfecta, type II, MIM#166210 Osteogenesis imperfecta, type III, MIM#259420 Osteogenesis imperfecta, type IV, MIM#166220 Tags
Green Green List (high evidence)	COL1A2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, MIM# 619120 Ehlers-Danlos syndrome, arthrochalasia type, 2, MIM# 617821 Ehlers-Danlos syndrome, cardiac valvular type, MIM# 225320 Osteogenesis imperfecta, type II, MIM# 166210 Osteogenesis imperfecta, type III, MIM# 259420 Osteogenesis imperfecta, type IV, MIM# 166220 Tags
Green Green List (high evidence)	COL25A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Arthrogryposis multiplex congenita MONDO:0015168 Tags
Green Green List (high evidence)	COL27A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Steel syndrome, OMIM #615155 Tags
Green Green List (high evidence)	COL2A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes Collagenopathy type 2 alpha 1, MONDO:0022800 Tags
Green Green List (high evidence)	COL3A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Polymicrogyria with or without vascular-type ehlers-danlos syndrome, MIM # 618343 Ehlers-Danlos syndrome, vascular type, MIM# 130050 Tags
Green Green List (high evidence)	COL4A1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Brain small vessel disease with or without ocular anomalies, MIM#175780 Porenecphaly Tags
Green Green List (high evidence)	COL4A2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Brain small vessel disease 2, MIM# 614483 Porencephaly Tags
Green Green List (high evidence)	COL6A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Bethlem myopathy 1, MIM# 158810 Ullrich congenital muscular dystrophy 1, MIM# 254090 Tags
Green Green List (high evidence)	COL6A2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Bethlem myopathy 1, MIM# 158810 Ullrich congenital muscular dystrophy 1, MIM# 254090 Tags
Green Green List (high evidence)	COL6A3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Bethlem myopathy 1, MIM# 158810 Ullrich congenital muscular dystrophy 1, MIM# 254090 Tags
Green Green List (high evidence)	COL9A1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Stickler syndrome, type IV, MIM# 614134 Tags
Green Green List (high evidence)	COL9A2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Stickler syndrome, type V, MIM# 614284 Tags
Green Green List (high evidence)	COL9A3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epiphyseal dysplasia, multiple, 3, with or without myopathy - MIM#600969 Stickler syndrome Tags
Green Green List (high evidence)	COLEC10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes 3MC syndrome 3, MONDO:0009554 3MC syndrome 3, OMIM:248340 Tags
Green Green List (high evidence)	COLEC11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes 3MC syndrome 2, MIM# 265050 Tags
Green Green List (high evidence)	COLGALT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Brain small vessel disease 3, MIM# 618360 Tags
Green Green List (high evidence)	COQ4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Coenzyme Q10 deficiency, primary, 7, MIM# 616276 Tags
Green Green List (high evidence)	COQ7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Coenzyme Q10 deficiency, primary, 8 - MIM#616733 Tags
Green Green List (high evidence)	COQ9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Coenzyme Q10 deficiency, primary, 5, MIM#614654 Tags
Green Green List (high evidence)	COX7B	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Linear skin defects with multiple congenital anomalies 2, MIM#300887 Tags
Green Green List (high evidence)	CPAMD8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Anterior segment dysgenesis 8, MIM# 617319 Tags
Green Green List (high evidence)	CPT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes CPT II deficiency, lethal neonatal, MIM# 608836 Tags
Green Green List (high evidence)	CRADD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Mental retardation, autosomal recessive 34, with variant lissencephaly, MIM# 614499 Tags
Green Green List (high evidence)	CRB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Ventriculomegaly with cystic kidney disease, MIM# 219730 Tags
Green Green List (high evidence)	CREB3L1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Osteogenesis imperfecta, type XVI, 616229 Tags
Green Green List (high evidence)	CREBBP	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Literature Phenotypes Rubinstein-Taybi syndrome 1, MIM# 180849 Menke-Hennekam syndrome 1, MIM# 618332 Tags
Green Green List (high evidence)	CRIPT	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Short stature with microcephaly and distinctive facies (MIM#615789) Rothmund-Thomson syndrome MONDO:0010002 Tags
Green Green List (high evidence)	CRLF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Cold-induced sweating syndrome 1, MIM#272430 Tags
Green Green List (high evidence)	CRTAP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type VII, MIM# 610682 Tags
Green Green List (high evidence)	CRYAA	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Cataract 9, multiple types, MIM# 604219 Tags
Green Green List (high evidence)	CRYBA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Cataract 10, multiple types, MIM# 600881 Tags
Green Green List (high evidence)	CRYBA4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Cataract 23, MIM# 610425 Tags
Green Green List (high evidence)	CRYBB1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Cataract 17, multiple types, MIM# 611544 Tags
Green Green List (high evidence)	CRYBB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Cataract 3, multiple types, MIM# 601547 Tags
Green Green List (high evidence)	CRYBB3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Cataract 22, MIM# 609741 Tags
Green Green List (high evidence)	CRYGC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Cataract 2, multiple types, MIM# 604307 Tags
Green Green List (high evidence)	CRYGD	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Cataract 4, multiple types, MIM# 115700 Tags
Green Green List (high evidence)	CSF1R	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476 BANDDOS Tags
Green Green List (high evidence)	CSNK2A1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Okur-Chung neurodevelopmental syndrome, MIM# 617062 Tags
Green Green List (high evidence)	CSPP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Joubert syndrome 21, MIM# 615636 MONDO:0014288 Tags
Green Green List (high evidence)	CTC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199 Tags
Green Green List (high evidence)	CTCF	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Mental retardation, autosomal dominant 21 (MIM#615502) Tags
Green Green List (high evidence)	CTDP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Congenital cataracts, facial dysmorphism, and neuropathy, MIM# 604168 Tags deep intronic founder
Green Green List (high evidence)	CTNNA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cortical dysplasia, complex, with other brain malformations 9, MIM#618174 Tags
Green Green List (high evidence)	CTNNB1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Neurodevelopmental disorder with spastic diplegia and visual defects , MIM#615075 Tags
Green Green List (high evidence)	CTNND1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Blepharocheilodontic syndrome 2, MIM# 617681 Tags
Green Green List (high evidence)	CTSA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Galactosialidosis, MIM# 256540 Tags
Green Green List (high evidence)	CTSD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Ceroid lipofuscinosis, neuronal, 10, MIM# 610127 Tags
Green Green List (high evidence)	CTSK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Pycnodysostosis, MIM# 265800 Tags
Green Green List (high evidence)	CTU2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142 Tags
Green Green List (high evidence)	CUL3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with or without autism or seizures (MIM#619239) Pseudohypoaldosteronism, type IIE (MIM#614496) Tags
Green Green List (high evidence)	CUL4B	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Phenotypes Mental retardation, X-linked, syndromic 15 (Cabezas type), MIM# 300354 Tags
Green Green List (high evidence)	CUL7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes 3-M syndrome 1, MIM# 273750 Yakut short stature syndrome Tags
Green Green List (high evidence)	CWC27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410 Tags
Green Green List (high evidence)	CWF19L1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia, autosomal recessive 17 - MIM#616127 Tags
Green Green List (high evidence)	CYP11A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743 Tags
Green Green List (high evidence)	CYP11B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010 Tags
Green Green List (high evidence)	CYP17A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110 Tags
Green Green List (high evidence)	CYP1B1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Anterior segment dysgenesis 6, multiple subtypes, MIM# 617315 Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, MIM# 231300 Tags
Green Green List (high evidence)	CYP21A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, MIM# 201910 Tags SV/CNV
Green Green List (high evidence)	CYP26B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416 Tags
Green Green List (high evidence)	D2HGDH	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes D-2-hydroxyglutaric aciduria, MIM# 600721 Tags
Green Green List (high evidence)	DARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281 Tags new gene name
Green Green List (high evidence)	DCC	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Mirror movements 1 and/or agenesis of the corpus callosum, OMIM #157600 Gaze palsy, familial horizontal, with progressive scoliosis, 2,OMIM # 617542 Tags
Green Green List (high evidence)	DCHS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Van Maldergem syndrome 1, MIM# 601390 Tags
Green Green List (high evidence)	DCX	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Lissencephaly, X-linked, MIM# 300067 Subcortical laminal heterotopia, X-linked 300067 Tags
Green Green List (high evidence)	DDR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665, AR Tags
Green Green List (high evidence)	DDX11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Literature Phenotypes Warsaw breakage syndrome, MIM# 613398 MONDO:0013252 Tags
Green Green List (high evidence)	DDX3X	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genomics England PanelApp Phenotypes Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type MIM# 300958 Tags
Green Green List (high evidence)	DDX59	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Phenotypes Orofaciodigital syndrome V, MONDO:0008267 Orofaciodigital syndrome V, OMIM:174300 Tags
Green Green List (high evidence)	DDX6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Intellectual developmental disorder with impaired language and dysmorphic facies, MIM#618653 Tags
Green Green List (high evidence)	DEAF1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures 617171 Vulto-van Silfout-de Vries syndrome 615828 Tags
Green Green List (high evidence)	DENND5A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy, 49, MONDO:0015002 Developmental and epileptic encephalopathy 49, OMIM:617281 Tags
Green Green List (high evidence)	DEPDC5	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Epilepsy, familial focal, with variable foci 1 MIM#604364 Tags
Green Green List (high evidence)	DHCR24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Desmosterolosis, MIM# 602398 Tags
Green Green List (high evidence)	DHCR7	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Green Genomics England PanelApp Literature Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Smith-Lemli-Opitz syndrome, MIM# 270400 Tags
Green Green List (high evidence)	DHODH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Miller syndrome, MIM# 263750 Tags
Green Green List (high evidence)	DIAPH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Genomics England PanelApp Phenotypes Seizures, cortical blindness, microcephaly syndrome, MIM#616632 Tags
Green Green List (high evidence)	DICER1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes GLOW syndrome, somatic mosaic - MIM#618272 Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors - MIM#138800 Pleuropulmonary blastoma - MIM#601200 Tags
Green Green List (high evidence)	DIS3L2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Perlman syndrome MIM# 267000 Tags
Green Green List (high evidence)	DISP1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Holoprosencephaly (MONDO:0016296), DISP1-related Tags
Green Green List (high evidence)	DKC1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Phenotypes Dyskeratosis congenita, X-linked MIM#305000 Hoyeraal-Hreidarsson syndrome (HHS) Tags
Green Green List (high evidence)	DLG5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Yuksel-Vogel-Bauer syndrome, MIM#620703 Tags
Green Green List (high evidence)	DLL1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Red Literature Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures - #618709 Tags
Green Green List (high evidence)	DLL3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300 Tags
Green Green List (high evidence)	DLL4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Adams-Oliver syndrome 6, MIM#616589 Tags
Green Green List (high evidence)	DLX5	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Split-hand/foot malformation 1 with sensorineural hearing loss MIM#220600 Split-hand/foot malformation 1 MIM#183600 Tags
Green Green List (high evidence)	DMPK	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Myotonic dystrophy 1, MIM#160900 Tags STR
Green Green List (high evidence)	DNA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Seckel syndrome 8, MIM#615807 Tags
Green Green List (high evidence)	DNAAF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 13, MIM# 613193 Tags
Green Green List (high evidence)	DNAAF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Ciliary dyskinesia, primary, 10, 612518 Tags
Green Green List (high evidence)	DNAAF3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 2, MIM# 606763 Tags
Green Green List (high evidence)	DNAAF4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 25, MIM# 615482 Tags
Green Green List (high evidence)	DNAAF5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Primary ciliary dyskinesia 18, MONDO:0013940 Ciliary dyskinesia, primary, 18, OMIM:614874 Tags
Green Green List (high evidence)	DNAH11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884 Tags
Green Green List (high evidence)	DNAH5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644) Heterotaxy Tags
Green Green List (high evidence)	DNAH9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Ciliary dyskinesia, primary, 40, MIM# 618300 Tags
Green Green List (high evidence)	DNAI1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400 Tags
Green Green List (high evidence)	DNAI2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM#612444 Tags
Green Green List (high evidence)	DNAJB11	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Polycystic kidney disease 6 with or without polycystic liver disease, 618061 Tags
Green Green List (high evidence)	DNAJC19	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes 3-methylglutaconic aciduria, type V 610198 Tags
Green Green List (high evidence)	DNM1L	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 Tags
Green Green List (high evidence)	DNMT3A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Literature Phenotypes Tatton-Brown-Rahman syndrome, MIM# 615879 Heyn-Sproul-Jackson syndrome, MIM# 618724 Tags
Green Green List (high evidence)	DNMT3B	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 1, MIM# 242860 Tags
Green Green List (high evidence)	DOCK6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Adams-Oliver syndrome 2, MIM#614219 Tags
Green Green List (high evidence)	DOCK7	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Developmental and epileptic encephalopathy 23 MIM#615859 Tags
Green Green List (high evidence)	DOHH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066 Tags
Green Green List (high evidence)	DOK7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Myasthenic syndrome, congenital, 10, MIM# 254300 Fetal akinesia deformation sequence 3, MIM# 618389 Tags
Green Green List (high evidence)	DONSON	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Genomics England PanelApp Phenotypes Microcephaly, short stature, and limb abnormalities, MIM# 617604 Microcephaly-micromelia syndrome, MIM# 251230 MONDO:0009619 Tags
Green Green List (high evidence)	DPAGT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Congenital disorder of glycosylation, type Ij, MIM# 608093 DPAGT1-CDG MONDO:0011964 Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750 Tags
Green Green List (high evidence)	DPF2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes Coffin-Siris syndrome 7, MIM#618027 Tags
Green Green List (high evidence)	DPH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Developmental delay with short stature, dysmorphic facial features, and sparse hair, OMIM:616901 Tags
Green Green List (high evidence)	DPM1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ie, 608799 Tags
Green Green List (high evidence)	DPM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Congenital disorder of glycosylation, type Iu, 615042 Tags
Green Green List (high evidence)	DRG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Tan-Almurshedi syndrome, MIM# 620641 Tags
Green Green List (high evidence)	DSP	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821 Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676 Epidermolysis bullosa, lethal acantholytic, MIM# 609638 Tags
Green Green List (high evidence)	DVL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Genomics England PanelApp Phenotypes Robinow syndrome, autosomal dominant 2 (MIM#616331) Tags
Green Green List (high evidence)	DVL3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Robinow syndrome, autosomal dominant 3 MIM#616894 Tags
Green Green List (high evidence)	DYM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Smith-McCort dysplasia , MM#607326 Dyggve-Melchior-Clausen disease, MIM#223800 Tags
Green Green List (high evidence)	DYNC1H1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228 Mental retardation, autosomal dominant 13, MIM# 614563 Spinal muscular atrophy, lower extremity-predominant 1, MIM# 158600 Tags
Green Green List (high evidence)	DYNC1I1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Split-hand/split-foot malformation (SHFM) MONDO:0016576, DYNC1I1-related Tags SV/CNV
Green Green List (high evidence)	DYNC1I2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492 Tags
Green Green List (high evidence)	DYNC2H1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091 MONDO:0013127 Tags
Green Green List (high evidence)	DYNC2LI1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 15 with polydactyly, MIM#617088 Tags
Green Green List (high evidence)	DYRK1A	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Mental retardation, autosomal dominant 7, MIM# 614104 Tags SV/CNV
Green Green List (high evidence)	EBF3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Hypotonia, ataxia, and delayed development syndrome MONDO:0015021 Hypotonia, ataxia, and delayed development syndrome OMIM:617330 Tags
Green Green List (high evidence)	EBP	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Chondrodysplasia punctata, X-linked dominant MIM#302960 Conradi-Hunermann syndrome MEND syndrome, MIM#300960 Tags
Green Green List (high evidence)	ECEL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Arthrogryposis, distal, type 5D, MIM# 615065 Tags
Green Green List (high evidence)	EDN3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Central hypoventilation syndrome, congenital, MIM# 209880 Waardenburg syndrome, type 4B, MIM# 613265 {Hirschsprung disease, susceptibility to, 4}, MIM# 613712 Tags
Green Green List (high evidence)	EDNRA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes Mandibulofacial dysostosis with alopecia, MIM# 616367 Tags
Green Green List (high evidence)	EDNRB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Waardenburg syndrome, type 4A, MIM#277580 ABCD syndrome, MIM# 600501 Tags
Green Green List (high evidence)	EED	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Literature Phenotypes Cohen-Gibson syndrome, MONDO:0060510 Cohen-Gibson syndrome, OMIM:617561 Tags
Green Green List (high evidence)	EEF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Phenotypes Neurodevelopmental disorder macrocephaly hydrocephalus Tags
Green Green List (high evidence)	EFCAB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ciliary dyskinesia, primary, 53, MIM# 620642 Tags new gene name
Green Green List (high evidence)	EFEMP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Autosomal recessive cutis laxa type 1B (ARCL1B), MIM# 614437 Tags
Green Green List (high evidence)	EFNB1	2 reviews 1 green	Other	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Craniofrontonasal dysplasia, MIM# 304110 Diaphragmatic hernia Tags
Green Green List (high evidence)	EFTUD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536 Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516 Tags
Green Green List (high evidence)	EHBP1L1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Literature Phenotypes non-immune hydrops fetalis MONDO:0009369, EHBP1L1-related Tags
Green Green List (high evidence)	EHMT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Kleefstra syndrome 1, MIM# 610253 MONDO:0027407 Tags
Green Green List (high evidence)	EIF2AK3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Wolcott-Rallison syndrome MIM#226980 Tags
Green Green List (high evidence)	EIF2B2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Literature Phenotypes Leukoencephalopathy with vanishing white matter, MIM#603896 congenital cataract Tags
Green Green List (high evidence)	EIF2S3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes MEHMO syndrome, OMIM:300148 MEHMO syndrome, MONDO:0010258 Tags
Green Green List (high evidence)	EIF3F	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal recessive 67- MIM#618295 Tags
Green Green List (high evidence)	EIF4A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Robin sequence with cleft mandible and limb anomalies, MIM# 268305 Richieri-Costa-Pereira syndrome Tags STR
Green Green List (high evidence)	EIF5A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Faundes-Banka syndrome, MIM# 619376 Intellectual disability microcephaly dysmorphism Tags
Green Green List (high evidence)	ELAC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Combined oxidative phosphorylation deficiency 17, MIM#615440 Tags
Green Green List (high evidence)	ELN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes Cutis laxa 123700 Supravalvar aortic stenosis 185500 Tags
Green Green List (high evidence)	ELOVL4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Ichthyosis, spastic quadriplegia, and mental retardation MIM#614457 Tags
Green Green List (high evidence)	EMC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Cerebellar atrophy, visual impairment, and psychomotor retardation, MIM# 616875 Tags
Green Green List (high evidence)	EML1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Band heterotopia, OMIM:600348 Tags
Green Green List (high evidence)	EN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes ENDOVE syndrome, limb-brain type - OMIM#619218 Tags 5'UTR SV/CNV
Green Green List (high evidence)	EOGT	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Adams-Oliver syndrome 4, MIM#615297 Tags
Green Green List (high evidence)	EP300	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Rubinstein-Taybi syndrome 2, MIM# 613684 Menke-Hennekam syndrome , MIM#2 618333 Tags
Green Green List (high evidence)	EPG5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Vici syndrome, MIM# 242840 Tags
Green Green List (high evidence)	EPHB4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Capillary malformation-arteriovenous malformation 2 (MIM#618196), AD Lymphatic malformation 7 (MIM#617300), AD hydrops fetalis Tags
Green Green List (high evidence)	ERBB3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lethal congenital contractural syndrome 2, MIM# 607598 Hirschsprung disease (HSCR, aganglionic megacolon) MIM#142623 Tags
Green Green List (high evidence)	ERCC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Cerebrooculofacioskeletal syndrome 4, MIM# 610758 MONDO:0012554 Tags
Green Green List (high evidence)	ERCC2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Cerebrooculofacioskeletal syndrome 2, MIM# 610756 MONDO:0012553 Tags
Green Green List (high evidence)	ERCC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Xeroderma pigmentosum, group B 61, MIM#0651 Trichothiodystrophy 2, photosensitive, MIM# 616390 Tags
Green Green List (high evidence)	ERCC4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group Q, MIM# 615272 MONDO:0014108 XFE progeroid syndrome, MIM# 610965 Tags
Green Green List (high evidence)	ERCC5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Literature Phenotypes Cerebrooculofacioskeletal syndrome 3, MIM# 616570 MONDO:0014696 Xeroderma pigmentosum, group G, MIM# 278780 MONDO:0010216 Tags
Green Green List (high evidence)	ERCC6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Cockayne syndrome, type B, MIM#133540 Cerebrooculofacioskeletal syndrome 1, MIM#214150 De Sanctis-Cacchione syndrome, MIM#278800 Tags
Green Green List (high evidence)	ERCC8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Cockayne syndrome, type A, MIM# 216400 Tags
Green Green List (high evidence)	ERF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Chitayat syndrome, MIM#617180 Craniosynostosis 4, MIM#600775 Tags
Green Green List (high evidence)	ERGIC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Arthrogryposis multiplex congenita 2, neurogenic type OMIM # 208100 Tags
Green Green List (high evidence)	ERI1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spondyloepimetaphyseal dysplasia, Guo-Salian type, MIM# 620663 Tags
Green Green List (high evidence)	ESAM	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with intracranial haemorrhage, seizures, and spasticity, MIM# 620371 Tags
Green Green List (high evidence)	ESCO2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature NHS GMS Phenotypes Juberg-Hayward syndrome, MIM# 216100 Roberts-SC phocomelia syndrome, MIM#268300 Tags
Green Green List (high evidence)	ETFA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Glutaric acidemia IIA, MIM#231680 Tags
Green Green List (high evidence)	ETFB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Glutaric acidaemia IIB, MIM#231680 Tags
Green Green List (high evidence)	ETFDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Glutaric acidemia IIC, MIM#231680 Tags
Green Green List (high evidence)	EVC	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Ellis-van Creveld syndrome, MIM# 225500 Tags
Green Green List (high evidence)	EVC2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Ellis-van Creveld syndrome (MIM#225500) Tags
Green Green List (high evidence)	EXOC3L2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Dandy-Walker malformation, MONDO:0009072 Meckel-Gruber-like syndrome Tags
Green Green List (high evidence)	EXOC7	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with seizures and brain atrophy MIM#619072 Tags
Green Green List (high evidence)	EXOSC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Pontocerebellar hypoplasia, type 1B 614678 Tags
Green Green List (high evidence)	EXOSC5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebellar ataxia, brain abnormalities, and cardiac conduction defects - MIM#619576 Tags
Green Green List (high evidence)	EXOSC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pontocerebellar hypoplasia, type 1C - MIM#616081 Tags
Green Green List (high evidence)	EXOSC9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pontocerebellar hypoplasia, type 1D - MIM#618065 Tags
Green Green List (high evidence)	EXT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Exostoses, multiple, type 1 133700 Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) Tags
Green Green List (high evidence)	EXT2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Seizures, scoliosis, and macrocephaly syndrome, MIM#616682 Exostoses, multiple, type 2, MIM# 133701 Tags
Green Green List (high evidence)	EXTL3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425 Tags
Green Green List (high evidence)	EYA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Anterior segment anomalies with or without cataract MIM#602588 Branchiootic syndrome 1 MIM#602588 Branchiootorenal syndrome 1, with or without cataracts MIM#113650 Tags
Green Green List (high evidence)	EZH2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Weaver syndrome MIM#277590 Tags
Green Green List (high evidence)	FAM111A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Kenny-Caffey syndrome, type 2, MIM# 127000 Tags
Green Green List (high evidence)	FAM126A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Leukodystrophy, hypomyelinating, 5 MIM#610532 Tags
Green Green List (high evidence)	FAM149B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome 36 - MIM#618763 Tags
Green Green List (high evidence)	FAM20C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Raine syndrome MIM#259775 Tags
Green Green List (high evidence)	FAM46A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Osteogenesis imperfecta, type 18, MONDO:0044329 Osteogenesis imperfecta, type XVIII, OMIM:617952 Tags new gene name
Green Green List (high evidence)	FAM58A	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genomics England PanelApp Phenotypes STAR syndrome MIM#300707 Tags
Green Green List (high evidence)	FANCA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group A, MIM# 227650 MONDO:0009215 Tags
Green Green List (high evidence)	FANCB	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group B, MIM# 300514 MONDO:0010351 Tags
Green Green List (high evidence)	FANCC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Victorian Clinical Genetics Services Phenotypes Fanconi anemia, complementation group C, MIM# 227645 MONDO:0009213 Tags
Green Green List (high evidence)	FANCD2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group D2, MIM# 227646 Tags
Green Green List (high evidence)	FANCE	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group E, MIM# 600901 MONDO:0010953 Tags
Green Green List (high evidence)	FANCF	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group F 603467 MONDO:0011325 Tags
Green Green List (high evidence)	FANCG	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group G, MIM# 614082 MONDO:0013565 Tags
Green Green List (high evidence)	FANCI	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group I, MIM# 609053 MONDO:0012186 Tags
Green Green List (high evidence)	FANCL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Fanconi anemia, complementation group L, OMIM:614083 Fanconi anemia complementation group L, MONDO:0013566 Tags
Green Green List (high evidence)	FAR1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Literature Phenotypes Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154 Cataracts, spastic paraparesis, and speech delay, MIM#619338 Tags
Green Green List (high evidence)	FAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes multiple congenital anomalies nephropathy ocular anomalies hand and foot anomalies Tags
Green Green List (high evidence)	FAT4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006 Van Maldergem syndrome 2 MIM#615546 Tags
Green Green List (high evidence)	FBLN5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Cutis laxa, autosomal recessive, type IA, MIM#219100 Tags
Green Green List (high evidence)	FBN1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Marfan syndrome, MIM# 154700 Tags
Green Green List (high evidence)	FBN2	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Contractural arachnodactyly, congenital OMIM:121050 congenital contractural arachnodactyly MONDO:0007363 Tags
Green Green List (high evidence)	FBRSL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Congenital malformations congenital heart defect Tags
Green Green List (high evidence)	FBXL4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471 Tags
Green Green List (high evidence)	FBXW11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Neurodevelopmental, eye, jaw, and digital syndrome (NDEJD), MIM#618914 Tags
Green Green List (high evidence)	FGD1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Aarskog-Scott syndrome, MIM # 305400 Mental retardation, X-linked syndromic 16, MIM# 305400 Tags
Green Green List (high evidence)	FGF10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes Lacrimoauriculodentodigital syndrome (149730) Tags
Green Green List (high evidence)	FGF3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706 Tags
Green Green List (high evidence)	FGF8	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Holoprosencephaly MONDO:0016296 Tags
Green Green List (high evidence)	FGF9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Multiple synostoses syndrome 3, OMIM # 612961 Craniosynostosis Tags
Green Green List (high evidence)	FGFR1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Pfeiffer syndrome, MIM# 101600 Tags
Green Green List (high evidence)	FGFR2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes LADD syndrome, MIM#149730 Apert syndrome, MIM# 101200 Crouzon syndrome, MIM# 123500 Jackson-Weiss syndrome, MIM# 123150 Pfeiffer syndrome, MIM# 101600 Saethre-Chotzen syndrome, MIM# 101400 Tags
Green Green List (high evidence)	FGFR3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes LADD syndrome, MIM#149730 Achondroplasia, MIM# 100800 Thanatophoric dysplasia, type I, MIM# 187600 Thanatophoric dysplasia, type II, MIM# 187601 Tags
Green Green List (high evidence)	FH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Fumarase deficiency, MIM# 606812 Tags
Green Green List (high evidence)	FIG4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Yunis-Varon syndrome, OMIM:216340 Yunis-Varon syndrome, MONDO:0008995 ?Polymicrogyria, bilateral temporooccipital, OMIM:612691 Bilateral parasagittal parieto-occipital polymicrogyria, MONDO:0012986 Tags
Green Green List (high evidence)	FILIP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes ANeuromuscular disorder, congenital, with dysmorphic facies, MIM# 620775 Tags
Green Green List (high evidence)	FKBP10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Bruck syndrome 1, MONDO:0009806 Osteogenesis imperfecta, type XI, OMIM:610968 Osteogenesis imperfecta type 11, MONDO:0012592 Bruck syndrome 1, OMIM:259450 Tags
Green Green List (high evidence)	FKBP14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Ehlers-Danlos syndrome, kyphoscoliotic type, 2, MIM# 614557 Tags
Green Green List (high evidence)	FKRP	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153 Tags
Green Green List (high evidence)	FKTN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800 Tags
Green Green List (high evidence)	FLNA	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Melnick-Needles syndrome, 309350 Otopalatodigital syndrome, type I 311300 Otopalatodigital syndrome, type II 304120 Terminal osseous dysplasia 300244 Heterotopia, periventricular, 1 MIM# 300049 Cardiac valvular dysplasia, X-linked MIM# 314400 Tags
Green Green List (high evidence)	FLNB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Larsen syndrome, MIM#150250 Atelosteogenesis, type I, MIM# 108720 Atelosteogenesis, type III, MIM# 108721 Boomerang dysplasia, MIM# 112310 Spondylocarpotarsal synostosis syndrome, MIM# 272460 Tags
Green Green List (high evidence)	FLNC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Arthrogryposis congenital myopathy Myopathy, myofibrillar, 5 - MIM#609524 Tags
Green Green List (high evidence)	FLT4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Congenital heart defects, multiple types, 7, MIM# 618780 Lymphatic malformation 1, MIM# 153100 Tags
Green Green List (high evidence)	FLVCR2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Other Phenotypes Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790 Tags
Green Green List (high evidence)	FOSL2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Aplasia cutis-enamel dysplasia syndrome, MIM# 620789 Tags
Green Green List (high evidence)	FOXC1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Axenfeld-Rieger syndrome, type 3, MIM# 602482 Tags
Green Green List (high evidence)	FOXC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Lymphoedema-distichiasis syndrome, MIM# 153400 Tags
Green Green List (high evidence)	FOXE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Bamforth-Lazarus syndrome, MIM# 241850 MONDO:0009437 Tags
Green Green List (high evidence)	FOXE3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256 Cataract 34, multiple types, OMIM:612968 Tags
Green Green List (high evidence)	FOXF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380 Tags
Green Green List (high evidence)	FOXG1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Rett Syndrome, congenital variant OMIM:613454 Rett syndrome, congenital variant MONDO:0013270 Tags
Green Green List (high evidence)	FOXJ1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Phenotypes Ciliary dyskinesia, primary, 43 - MIM# 618699 Tags
Green Green List (high evidence)	FOXP3	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Phenotypes Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 Tags
Green Green List (high evidence)	FOXRED1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Mitochondrial complex I deficiency, nuclear type 19 MIM#618241 Tags
Green Green List (high evidence)	FRA10AC1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113 Tags
Green Green List (high evidence)	FRAS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Fraser syndrome 1, MIM#219000 Tags
Green Green List (high evidence)	FREM1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Manitoba oculotrichoanal syndrome 248450 Bifid nose with or without anorectal and renal anomalies, MIM# 608980 Trigonocephaly 2, MIM# 614485 Tags
Green Green List (high evidence)	FREM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Cryptophthalmos, unilateral or bilateral, isolated MIM#123570 Fraser syndrome 2 MIM#617666 Tags
Green Green List (high evidence)	FRMPD4	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Intellectual Disability, X-linked 104, MIM#300983 Tags
Green Green List (high evidence)	FRYL	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO:0700092, FRYL-related Tags
Green Green List (high evidence)	FTL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Hyperferritinemia-cataract syndrome, MIM# 600886 Tags
Green Green List (high evidence)	FTO	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Growth retardation, developmental delay, facial dysmorphism - MIM#612938 multiple congenital malformations Tags
Green Green List (high evidence)	FUT8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Congenital disorder of glycosylation with defective fucosylation 1, OMIM:618005 Congenital disorder of glycosylation with defective fucosylation 1, MONDO:0020775 Tags
Green Green List (high evidence)	FUZ	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Neural tube defects 182940 Ciliopathy_MONDO_0005308, FUZ-related skeletal ciliopathy Tags
Green Green List (high evidence)	FYCO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Cataract 18 (MIM#610019) AR Tags
Green Green List (high evidence)	FZD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Autosomal dominant omodysplasia, MONDO:0008123 Omodysplasia 2, OMIM:164745 Tags
Green Green List (high evidence)	G6PC3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Dursun syndrome 612541 Neutropenia, severe congenital 4, autosomal recessive 612541 Tags
Green Green List (high evidence)	GAA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Glycogen storage disease II MIM#232300 Tags
Green Green List (high evidence)	GABRB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Developmental and epileptic encephalopathy 92 MIM#617829 Tags
Green Green List (high evidence)	GALE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Galactose epimerase deficiency MIM#230350 Tags
Green Green List (high evidence)	GALK1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Galactokinase deficiency with cataracts MIM#230200 Tags
Green Green List (high evidence)	GALNS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Mucopolysaccharidosis IVA, MIM# 253000 MONDO:0009659 Tags
Green Green List (high evidence)	GATA1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Anaemia, X-linked, with/without neutropaenia and/or platelet abnormalities, MIM#300835 Tags
Green Green List (high evidence)	GATA3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM:146255 Hypoparathyroidism-deafness-renal disease syndrome, MONDO:0007797 Tags
Green Green List (high evidence)	GATA4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Atrial septal defect 2 MIM#607941 Atrioventricular septal defect 4 MIM#614430 Ventricular septal defect 1 MIM#614429 Tags
Green Green List (high evidence)	GATA6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Pancreatic agenesis and congenital heart defects, MIM# 600001 Tags
Green Green List (high evidence)	GBA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Gaucher disease, perinatal lethal, MIM# 608013 Tags
Green Green List (high evidence)	GBE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Fetal akinesia deformation sequence Glycogen storage disease IV, OMIM:232500 Tags
Green Green List (high evidence)	GCDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Glutaric aciduria, type I MIM#231670 Tags
Green Green List (high evidence)	GDF1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Congenital heart defects, multiple types, 6 613854 Right atrial isomerism (Ivemark) 208530 Tags
Green Green List (high evidence)	GDF11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Vertebral hypersegmentation and orofacial anomalies (VHO), MIM#619122 Tags
Green Green List (high evidence)	GDF5	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Grebe type chondrodysplasia (MIM#200700) Du Pan syndrome (MIM#228900) Tags
Green Green List (high evidence)	GDF6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes Multiple synostoses syndrome 4 (MIM#617898) Tags
Green Green List (high evidence)	GFAP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Alexander disease MIM#203450 Tags
Green Green List (high evidence)	GFM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Combined oxidative phosphorylation deficiency 1 MIM#609060 Tags
Green Green List (high evidence)	GFRA1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Renal hypodysplasia/aplasia 4, MIM# 619887 Tags
Green Green List (high evidence)	GHR	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Growth hormone insensitivity, partial, MIM#604271 Laron dwarfism, MIM#262500 Tags
Green Green List (high evidence)	GJA1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Atrioventricular septal defect 3, MIM#600309 Craniometaphyseal dysplasia, autosomal recessive, MIM#218400 Hypoplastic left heart syndrome 1, MIM#241550 Oculodentodigital dysplasia, MIM#164200 Oculodentodigital dysplasia, autosomal recessive, MIM#257850 Syndactyly, type III, MIM# 186100 Tags
Green Green List (high evidence)	GJA3	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Cataract 14, multiple types MIM#601885 Tags
Green Green List (high evidence)	GJA8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Cataract 1, multiple types, MIM# 116200 Microphthalmia Tags
Green Green List (high evidence)	GJC2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Leukodystrophy, hypomyelinating, 2 MIM#608804 Tags
Green Green List (high evidence)	GLB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes GM1-gangliosidosis, type I MIM#230500 GM1-gangliosidosis, type II MIM# 230600 GM1-gangliosidosis, type III MIM#230650 Mucopolysaccharidosis type IVB (Morquio) MIM#253010 Tags
Green Green List (high evidence)	GLDN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Lethal congenital contracture syndrome 11, MIM# 617194 MONDO:0014965 Tags
Green Green List (high evidence)	GLE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Lethal congenital contracture syndrome 1, MIM# 253310 Tags
Green Green List (high evidence)	GLI1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Polydactyly, preaxial I, OMIM:174400 Polydactyly, postaxial, type A8, MONDO:0029130 Polydactyly, postaxial, type A8, OMIM:618123 Preaxial polydactyly of fingers, MONDO:0017425 Tags
Green Green List (high evidence)	GLI2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Culler-Jones syndrome, MIM#615849 Holoprosencephaly 9, MIM# 61082 Tags
Green Green List (high evidence)	GLI3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Expert Review Green Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Greig cephalopolysyndactyly syndrome, MIM# 175700 Polydactyly Tags
Green Green List (high evidence)	GLIS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM#610199 Tags
Green Green List (high evidence)	GLUL	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Glutamine deficiency, congenital MIM#610015 Tags
Green Green List (high evidence)	GMNN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Meier-Gorlin syndrome 6, OMIM:616835 Meier-Gorlin syndrome 6, MONDO:0014794 Tags
Green Green List (high evidence)	GMPPB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350 Tags
Green Green List (high evidence)	GNAI3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Auriculocondylar syndrome 1, OMIM #602483 Tags
Green Green List (high evidence)	GNAO1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Epileptic encephalopathy, early infantile, 17, MIM#615473 Neurodevelopmental disorder with involuntary movements, MIM# 617493 Tags
Green Green List (high evidence)	GNAS	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Genomics England PanelApp Phenotypes Pseudohypoparathyroidism Ia, MIM# 103580 Tags
Green Green List (high evidence)	GNB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Intellectual developmental disorder, autosomal dominant 42, MIM# 616973 intellectual disability, autosomal dominant 42 MONDO:0014855 Tags
Green Green List (high evidence)	GNPAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Rhizomelic chondrodysplasia punctata, type 2, MIM# 222765 MONDO:0009112 Tags
Green Green List (high evidence)	GNPTAB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Mucolipidosis II alpha/beta MIM#252500 Mucolipidosis III alpha/beta MIM#252600 Tags
Green Green List (high evidence)	GNS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Mucopolysaccharidosis type IIID, MIM# 252940 Sanfilippo syndrome type D, MONDO:0009658 Tags
Green Green List (high evidence)	GORAB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Literature Phenotypes Geroderma osteodysplasticum MIM#231070 Tags
Green Green List (high evidence)	GPC3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870 Tags
Green Green List (high evidence)	GPC6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Omodysplasia 1, OMIM:258315 Autosomal recessive omodysplasia, MONDO:0009779 Tags SV/CNV
Green Green List (high evidence)	GPI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency 613470 Tags
Green Green List (high evidence)	GPSM2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Chudley-McCullough syndrome, MIM# 604213 Tags
Green Green List (high evidence)	GPX4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Spondylometaphyseal dysplasia, Sedaghatian type MIM#250220 Tags
Green Green List (high evidence)	GREB1L	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Renal hypodysplasia/aplasia 3, MIM#617805 renal agenesis Tags
Green Green List (high evidence)	GRHL3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Van der Woude syndrome 2 MIM#606713 Tags
Green Green List (high evidence)	GRIN1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820 Tags
Green Green List (high evidence)	GRIN2B	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Mental retardation, autosomal dominant 6, MIM# 613970 Epileptic encephalopathy, early infantile, 27, MIM# 616139 Tags
Green Green List (high evidence)	GRIP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Fraser syndrome 3 MIM#617667 Tags
Green Green List (high evidence)	GRM7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities MIM#618922 Tags
Green Green List (high evidence)	GSC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome, MONDO:0011227 Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, OMIM:602471 Tags
Green Green List (high evidence)	GTF2H5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Trichothiodystrophy 3, photosensitive (MIM# 616395) Tags
Green Green List (high evidence)	GTPBP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Jaberi-Elahi syndrome MIM#617988 Tags
Green Green List (high evidence)	GTPBP3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Combined oxidative phosphorylation deficiency 23 MIM#616198 Tags
Green Green List (high evidence)	GUCY2C	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Meconium ileus, MIM# 614665 Tags
Green Green List (high evidence)	GUSB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Mucopolysaccharidosis VII, MIM# 253220 MONDO:0009662 Tags
Green Green List (high evidence)	GZF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Joint laxity, short stature, and myopia, OMIM:617662 Joint laxity, short stature, and myopia, MONDO:0060556 Tags
Green Green List (high evidence)	H3F3A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Bryant-Li-Bhoj neurodevelopmental syndrome 1, MIM# 619720 Tags
Green Green List (high evidence)	HAAO	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Vertebral, cardiac, renal, and limb defects syndrome 1 617660 Tags
Green Green List (high evidence)	HADHA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes LCHAD deficiency, MIM# 609016 Tags
Green Green List (high evidence)	HADHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Trifunctional protein deficiency, OMIM:609015 Mitochondrial trifunctional protein deficiency, MONDO:0012172 Tags
Green Green List (high evidence)	HBA1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Thalassaemia, alpha-, 604131 Fetal hydrops Tags
Green Green List (high evidence)	HBA2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Thalassaemia, alpha-, 604131 Fetal hydrops Tags
Green Green List (high evidence)	HCCS	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Linear skin defects with multiple congenital anomalies 1, MIM# 309801 Tags
Green Green List (high evidence)	HCFC1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Mental retardation, X-linked 3 (methylmalonic acidaemia and homocysteinaemia, cblX type) MIM# 309541 Tags
Green Green List (high evidence)	HDAC8	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Cornelia de Lange syndrome 5, MIM# 300882 Tags
Green Green List (high evidence)	HERC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Macrocephaly, dysmorphic facies, and psychomotor retardation - MIM#617011 Tags
Green Green List (high evidence)	HES7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Spondylocostal dysostosis 4, autosomal recessive 613686 Tags
Green Green List (high evidence)	HESX1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Septooptic dysplasia, OMIM:182230 Septooptic dysplasia, MONDO:0008428 Tags
Green Green List (high evidence)	HHAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Nivelon-Nivelon-Mabille syndrome 600092 Tags
Green Green List (high evidence)	HIBCH	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620 Tags
Green Green List (high evidence)	HIST1H1E	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Rahman syndrome, OMIM:617537 Rahman syndrome, MONDO:0044323 Tags
Green Green List (high evidence)	HIST1H4C	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Tessadori-van Haaften neurodevelopmental syndrome 1 MIM#619758 Tags new gene name
Green Green List (high evidence)	HIVEP2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Mental retardation, autosomal dominant 43, MIM# 616977 Tags
Green Green List (high evidence)	HMGA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Silver-Russell syndrome 5, OMIM:618908 Silver-Russell syndrome 5, MONDO:0020795 Tags SV/CNV
Green Green List (high evidence)	HMGB1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, HMGB1-related microcephaly intellectual disability brachyphalangy, polydactyly, and tibial aplasia/hypoplasia MIM#163905 Tags
Green Green List (high evidence)	HMX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Oculoauricular syndrome, MIM#612109 Tags
Green Green List (high evidence)	HNF1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Renal cysts and diabetes syndrome, MIM# 137920 Tags SV/CNV
Green Green List (high evidence)	HNF4A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young MIM#616026 Tags
Green Green List (high evidence)	HNRNPH2	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genomics England PanelApp Phenotypes Intellectual developmental disorder, X-linked, syndromic, Bain type MIM#300986 Tags
Green Green List (high evidence)	HNRNPK	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Other Phenotypes Au-Kline syndrome, MIM#616580 Tags
Green Green List (high evidence)	HOXA1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Athabaskan brainstem dysgenesis syndrome MIM#601536 Bosley-Salih-Alorainy syndrome MIM#601536 Tags founder
Green Green List (high evidence)	HOXA13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Hand-foot-uterus syndrome, MIM# 140000 Tags
Green Green List (high evidence)	HOXA2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Microtia with or without hearing impairment (AD) - MIM#612290 Tags
Green Green List (high evidence)	HOXD13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Brachydactyly, type D MIM#113200 Brachydactyly, type E MIM#113300 Syndactyly, type V MIM#186300 Synpolydactyly 1 MIM#186000 Tags
Green Green List (high evidence)	HPSE2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Urofacial syndrome 1 MIM#236730 Tags
Green Green List (high evidence)	HRAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Costello syndrome, MIM# 218040 Tags
Green Green List (high evidence)	HS2ST1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurofacioskeletal syndrome with or without renal agenesis-MIM#619194 multiple congenital anomalies arthrogryposis Tags
Green Green List (high evidence)	HSD17B3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Pseudohermaphroditism, male, with gynecomastia 264300 Tags
Green Green List (high evidence)	HSD17B4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes D-bifunctional protein deficiency, AR (MIM#261515) Tags
Green Green List (high evidence)	HSPA9	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Even-plus syndrome - MIM#616854 Anemia, sideroblastic, 4- #182170 Tags
Green Green List (high evidence)	HSPD1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Leukodystrophy, hypomyelinating, 4, MIM# 612233 Tags
Green Green List (high evidence)	HSPG2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Dyssegmental dysplasia, Rolland-Desbuquois type (MONDO:0009139) Schwartz-Jampel syndrome, MONDO:0009717 Silverman-Handmaker type dyssegmental dysplasia, MONDO:0009140 Schwartz-Jampel syndrome, type 1, OMIM:255800 Dyssegmental dysplasia, Silverman-Handmaker type, OMIM:224410 Tags
Green Green List (high evidence)	HUWE1	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Mental retardation, X-linked syndromic, Turner type, MIM#309590 Tags
Green Green List (high evidence)	HYAL2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cleft lip and palate cor triatriatum congenital cardiac malformations Tags
Green Green List (high evidence)	HYLS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Hydrolethalus syndrome (MIM#236680) Ciliopathy Tags founder
Green Green List (high evidence)	IARS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, OMIM# 617093 Tags
Green Green List (high evidence)	ICK	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Endocrine-cerebroosteodysplasia, OMIM:612651 Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 Tags
Green Green List (high evidence)	IDS	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Phenotypes Mucopolysaccharidosis II MIM#309900 MONDO:0010674 Hunter syndrome Tags
Green Green List (high evidence)	IDUA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis Ih (MIM#607014) Mucopolysaccharidosis Ih/s (MIM#607015) Mucopolysaccharidosis Is (MIM#6070) Mucopolysaccharidosis type 1, MONDO:0001586 Tags
Green Green List (high evidence)	IER3IP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647 Tags
Green Green List (high evidence)	IFIH1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Aicardi-Goutieres syndrome 7 MIM#615846 Singleton-Merten syndrome 1, MIM# 182250 Tags
Green Green List (high evidence)	IFITM5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Osteogenesis imperfecta, type V MIM#610967 Tags 5'UTR
Green Green List (high evidence)	IFT122	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Cranioectodermal dysplasia 1, MIM# 218330 Beemer-Langer syndrome Tags
Green Green List (high evidence)	IFT140	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920 Tags
Green Green List (high evidence)	IFT172	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630 Bardet-Biedl syndrome Tags
Green Green List (high evidence)	IFT27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Bardet-Biedl syndrome 19-MIM#615996 Tags
Green Green List (high evidence)	IFT43	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866 Cranioectodermal dysplasia 3, MIM# 614099 Tags
Green Green List (high evidence)	IFT52	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102 Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915 Tags
Green Green List (high evidence)	IFT74	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Bardet-Biedl syndrome 22 - MIM#617119 Joubert syndrome 40 - MIM#619582 Tags
Green Green List (high evidence)	IFT80	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263 MONDO:0012644 Tags
Green Green List (high evidence)	IGF1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Growth retardation with deafness and mental retardation due to IGF1 deficiency, MIM # 608747 Tags
Green Green List (high evidence)	IGF1R	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Insulin-like growth factor I, resistance to, MIM# 270450 Tags
Green Green List (high evidence)	IGF2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Literature Phenotypes Growth restriction, severe, with distinctive facies, MIM#616489 Tags
Green Green List (high evidence)	IGHMBP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Neuronopathy, distal hereditary motor, type VI MIM#604320 SMA with respiratory distress, SMARD1 Tags
Green Green List (high evidence)	IHH	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Acrocapitofemoral dysplasia MIM#607778 Brachydactyly, type A1 MIM#112500 Tags
Green Green List (high evidence)	IKBKG	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes ncontinentia pigmenti, MIM# 308300 Tags
Green Green List (high evidence)	IL11RA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Craniosynostosis and dental anomalies, MIM# 614188 Tags
Green Green List (high evidence)	IMPAD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Chondrodysplasia with joint dislocations, GPAPP type MIM#614078 Tags
Green Green List (high evidence)	INPP5E	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Joubert syndrome 1, MIM# 213300 MONDO:0008944 Tags
Green Green List (high evidence)	INPPL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Opsismodysplasia MIM#258480 Tags
Green Green List (high evidence)	INSR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Leprechaunism, MIM# 246200 Tags
Green Green List (high evidence)	INTS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies - MIM#618571 Tags
Green Green List (high evidence)	INTS13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Oral-facial-digital syndrome, MONDO:0015375, INTS13-related Tags
Green Green List (high evidence)	INTU	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Orofaciodigital syndrome XVII MIM#617926 Short-rib thoracic dysplasia 20 with polydactyly MIM#617925 Tags
Green Green List (high evidence)	INVS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Nephronophthisis 2, MIM# 602088 Tags
Green Green List (high evidence)	IQCE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Polydactyly, postaxial, type A7 - MIM#617642 Tags
Green Green List (high evidence)	IRF6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Popliteal pterygium syndrome 1MIM#119500 van der Woude syndrome MIM#119300 Tags
Green Green List (high evidence)	IRX5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Hamamy syndrome, MIM# 611174 Tags
Green Green List (high evidence)	ISPD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643 Tags
Green Green List (high evidence)	ITGA3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748 Tags
Green Green List (high evidence)	ITGA6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Epidermolysis bullosa, junctional, with pyloric stenosis MIM#226730 Tags
Green Green List (high evidence)	ITGA8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Renal hypodysplasia/aplasia 1, OMIM:191830 Renal hypodysplasia/aplasia 1, MONDO:0024519 Tags
Green Green List (high evidence)	ITGB4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Epidermolysis bullosa, junctional, with pyloric atresia MIM#226730 Tags
Green Green List (high evidence)	JAG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Alagille syndrome 1, MIM#118450 Tags
Green Green List (high evidence)	JAM3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Haemorrhagic destruction of the brain, subependymal calcification, and cataracts, MIM# 613730 Tags
Green Green List (high evidence)	KANSL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Koolen-De Vries syndrome (MIM#610443) Tags
Green Green List (high evidence)	KAT5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities- MIM#619103 Tags
Green Green List (high evidence)	KAT6A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes Arboleda-Tham syndrome MIM#616268 Tags
Green Green List (high evidence)	KAT6B	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Other Phenotypes SBBYSS syndrome MIM#603736 Genitopatellar syndrome MIM#606170 Tags
Green Green List (high evidence)	KATNB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Lissencephaly 6, with microcephaly, OMIM:616212, MONDO:0014534 Tags
Green Green List (high evidence)	KCNH1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Zimmermann-Laband syndrome 1, OMIM:135500 Tags
Green Green List (high evidence)	KCNJ1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Bartter syndrome, type 2, MIM#241200 Tags
Green Green List (high evidence)	KCNJ2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Andersen syndrome, OMIM:170390 Andersen-Tawil syndrome, MONDO:0008222 Tags
Green Green List (high evidence)	KCNJ8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Cantu syndrome Tags
Green Green List (high evidence)	KCNK3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, KCNK3-related developmental delay with sleep apnoea (DDSA) Tags
Green Green List (high evidence)	KCNQ1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Genomics England PanelApp Phenotypes Long QT syndrome 1, 192500 Tags
Green Green List (high evidence)	KDM1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Cleft palate, psychomotor retardation, and distinctive facial features 616728 Tags
Green Green List (high evidence)	KDM2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO#0700092, KDM2B-related Tags
Green Green List (high evidence)	KDM5C	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534 MONDO:0010355 Tags
Green Green List (high evidence)	KDM6A	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Kabuki syndrome 2, MIM# 300867 Tags
Green Green List (high evidence)	KDR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Tetralogy of Fallot Tags
Green Green List (high evidence)	KIAA0556	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome 26 - MIM#616784 Tags new gene name
Green Green List (high evidence)	KIAA0586	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Other Victorian Clinical Genetics Services Phenotypes Joubert syndrome 23 616490 Short-rib thoracic dysplasia 14 with polydactyly 616546 Hydrolethalus Tags
Green Green List (high evidence)	KIAA0753	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Orofaciodigital syndrome XV, MONDO:0014932 Orofaciodigital syndrome XV, OMIM:617127 Joubert syndrome Tags
Green Green List (high evidence)	KIAA0825	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Polydactyly, postaxial, type A10 - MIM#618498 Tags
Green Green List (high evidence)	KIAA1109	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Alkuraya-Kucinskas syndrome MIM#617822 Tags
Green Green List (high evidence)	KIDINS220	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity OMIM:617296 cerebral ventriculomegaly limb contractures spastic paraplegia, intellectual disability, nystagmus, and obesity MONDO:0015007 Tags
Green Green List (high evidence)	KIF11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950 MONDO:0007918 Tags
Green Green List (high evidence)	KIF14	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552 Microcephaly 20, primary, autosomal recessive, OMIM:617914 Meckel syndrome 12, OMIM:616258 Microcephaly 20, primary, autosomal recessive, MONDO:0054761 Tags
Green Green List (high evidence)	KIF1A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes NESCAV syndrome, MIM# 614255 Tags
Green Green List (high evidence)	KIF1BP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Goldberg-Shprintzen megacolon syndrome, MIM# 609460 Tags
Green Green List (high evidence)	KIF21B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092 Global developmental delay Intellectual disability Abnormality of brain morphology Microcephaly Tags
Green Green List (high evidence)	KIF22	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 2 MIM#603546 Tags
Green Green List (high evidence)	KIF26A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156 Tags
Green Green List (high evidence)	KIF2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Complex cortical dysplasia with other brain malformations 3, MONDO:0014170 Cortical dysplasia, complex, with other brain malformations 3, OMIM:615411 Tags
Green Green List (high evidence)	KIF4A	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Literature Phenotypes Intellectual developmental disorder, X-linked 100 - OMIM# 300923 Hydrocephalus Tags
Green Green List (high evidence)	KIF5B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Kyphomelic dysplasia, no OMIM # Tags
Green Green List (high evidence)	KIF5C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Cortical dysplasia, complex, with other brain malformations 2, OMIM:615282 Complex cortical dysplasia with other brain malformations 2, MONDO:0014116 Tags
Green Green List (high evidence)	KIF7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Hydrolethalus syndrome 2, MIM# 614120 Acrocallosal syndrome Tags
Green Green List (high evidence)	KLF1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Dyserythropoietic anaemia, congenital, type IV MIM#613673 Tags
Green Green List (high evidence)	KLHL40	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Nemaline myopathy 8, autosomal recessive, MIM# 615348 Tags
Green Green List (high evidence)	KLHL41	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Nemaline myopathy 9, MIM# 615731 Tags
Green Green List (high evidence)	KLHL7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes PERCHING syndrome, MONDO:0014890 PERCHING syndrome, OMIM:617055 Tags
Green Green List (high evidence)	KMT2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Wiedemann-Steiner syndrome, MIM# 605130 Tags
Green Green List (high evidence)	KMT2C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Kleefstra syndrome 2, MIM#617768 Tags
Green Green List (high evidence)	KMT2D	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Kabuki syndrome 1, MIM# 147920 KMT2D-associated syndrome Tags
Green Green List (high evidence)	KNL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Microcephaly 4, primary, autosomal recessive, OMIM:604321 Microcephaly 4, primary, autosomal recessive, MONDO:0011437 Tags
Green Green List (high evidence)	KRAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Noonan syndrome 3, MIM# 609942 Cardiofaciocutaneous syndrome 2, MIM# 615278 Tags
Green Green List (high evidence)	KYNU	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Vertebral, cardiac, renal, and limb defects syndrome 2 , MIM#617661 Tags
Green Green List (high evidence)	L1CAM	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Hydrocephalus due to aqueductal stenosis, MIM# 307000 Tags
Green Green List (high evidence)	LAGE3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Galloway-Mowat syndrome 2, X-linked - MIM#301006 Tags
Green Green List (high evidence)	LAMA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Poretti-Boltshauser syndrome, MIM# 615960 Tags
Green Green List (high evidence)	LAMA2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855 Tags
Green Green List (high evidence)	LAMB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Cobblestone lissencephaly without muscular or ocular involvement, MONDO:0014077 Lissencephaly 5, OMIM:615191 Tags
Green Green List (high evidence)	LAMC3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Cortical malformations, occipital, MIM#614115 Tags
Green Green List (high evidence)	LARGE1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154 Tags
Green Green List (high evidence)	LARP7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Alazami syndrome, MIM# 615071 Microcephalic primordial dwarfism, Alazami type MONDO:0014031 Tags
Green Green List (high evidence)	LARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021 Tags
Green Green List (high evidence)	LBR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Greenberg skeletal dysplasia, MIM#215140 Tags
Green Green List (high evidence)	LFNG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Spondylocostal dysostosis 3, autosomal recessive, MIM# 609813 Tags
Green Green List (high evidence)	LGI4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Arthrogryposis multiplex congenita, neurogenic, with myelin defect, MIM#617468 Tags
Green Green List (high evidence)	LIFR	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559 CAKUT Tags
Green Green List (high evidence)	LIG4	4 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes LIG4 syndrome, MIM#606593 Tags
Green Green List (high evidence)	LIPA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Wolman disease, 278000 Fetal hydrops Lysosomal Acid Lipase Deficiency Tags
Green Green List (high evidence)	LMBR1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Laurin-Sandrow syndrome, MIM# 135750 Polydactyly, preaxial type II 174500 Triphalangeal thumb, type I, MIM# 174500 Syndactyly, type IV, MIM# 186200 Acheiropody, MIM# 200500 Triphalangeal thumb-polysyndactyly syndrome, MIM# 174500 Hypoplastic or aplastic tibia with polydactyly, MIM# 188740 Tags
Green Green List (high evidence)	LMNA	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Restrictive dermopathy, lethal, MIM# 275210 Mandibuloacral dysplasia, MIM# 248370 Tags
Green Green List (high evidence)	LMNB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Microcephaly 26, primary, autosomal dominant - MIM#619179 Tags
Green Green List (high evidence)	LMNB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Microcephaly 27, primary, autosomal dominant - MIM#619180 Tags
Green Green List (high evidence)	LMOD3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Nemaline myopathy 10, MIM# 616165 Tags
Green Green List (high evidence)	LMX1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Nail-patella syndrome, MIM# 161200, MONDO:0008061 Tags
Green Green List (high evidence)	LNPK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum MIM#618090 Tags
Green Green List (high evidence)	LONP1	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Literature Phenotypes CODAS syndrome, OMIM:600373 CODAS syndrome, MONDO:0010879 Tags
Green Green List (high evidence)	LRIG2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Urofacial syndrome 2 (MIM#615112) Tags
Green Green List (high evidence)	LRP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Donnai-Barrow syndrome, MIM# 222448 Tags
Green Green List (high evidence)	LRP4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Cenani-Lenz syndactyly syndrome (MIM#212780) Tags
Green Green List (high evidence)	LRP5	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Osteoporosis-pseudoglioma syndrome, MIM# 259770 Polycystic liver disease 4 with or without kidney cysts, MIM# 617875 Tags
Green Green List (high evidence)	LRRC56	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Ciliary dyskinesia, primary, 39, OMIM:618254 Ciliary dyskinesia, primary, 39, MONDO:0032637 Tags
Green Green List (high evidence)	LRRC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 19, MIM# 614935 Tags
Green Green List (high evidence)	LTBP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cutis laxa, autosomal recessive, type IIE - MIM#619451 Tags
Green Green List (high evidence)	LTBP3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Dental anomalies and short stature, MIM# 601216 Geleophysic dysplasia 3, MIM# 617809 Thoracic aneurysm Tags
Green Green List (high evidence)	LTBP4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Cutis laxa, autosomal recessive, type IC, MIM# 613177 Tags
Green Green List (high evidence)	LZTFL1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Phenotypes Bardet-Biedl syndrome 17, MIM# 615994 Tags
Green Green List (high evidence)	LZTR1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Noonan syndrome 10, MIM#616564 Noonan syndrome 2, MIM#605275 Fetal hydrops Tags
Green Green List (high evidence)	MAB21L1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Cerebellar, ocular, craniofacial, and genital syndrome OMIM#618479 Tags
Green Green List (high evidence)	MAB21L2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877 Tags
Green Green List (high evidence)	MACF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Lissencephaly 9 with complex brainstem malformation, MONDO:0032677 Lissencephaly 9 with complex brainstem malformation, OMIM:618325 Tags
Green Green List (high evidence)	MAF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Ayme-Gripp syndrome (MIM#601088) Tags
Green Green List (high evidence)	MAGEL2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Schaaf-Yang syndrome, MIM# 615547 Tags
Green Green List (high evidence)	MAMLD1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Phenotypes Hypospadias 2 (MIM#300758) Tags
Green Green List (high evidence)	MAN2C1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Congenital disorder of deglycosylation 2, MIM# 619775 Tags
Green Green List (high evidence)	MAP1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Polymicrogyria Periventricular nodular heterotopia 9, MIM# 618918 Tags
Green Green List (high evidence)	MAP2K1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Cardiofaciocutaneous syndrome 3, MIM# 615279 Tags
Green Green List (high evidence)	MAP2K2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Cardiofaciocutaneous syndrome 4, MIM# 615280 Tags
Green Green List (high evidence)	MAP3K1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes 46XY sex reversal 6 (MIM#613762) Tags
Green Green List (high evidence)	MAP3K20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Split-foot malformation-mesoaxial polydactyly syndrome, MONDO:0014816 Myopathy, centronuclear, 6, with fiber-type disproportion, MONDO:0054695 Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760 Split-foot malformation with mesoaxial polydactyly, OMIM:616890 Tags
Green Green List (high evidence)	MAP3K7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Cardiospondylocarpofacial syndrome, OMIM:157800 Frontometaphyseal dysplasia 2, MONDO:0014935 Frontometaphyseal dysplasia 2, OMIM:617137 Cardiospondylocarpofacial syndrome, MONDO:0008005 Tags
Green Green List (high evidence)	MAP4K4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes RASopathy, MONDO:0021060, MAP4K4-related Tags
Green Green List (high evidence)	MAPK1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Noonan syndrome 13 - MIM#619087 Tags
Green Green List (high evidence)	MAPK8IP3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with or without variable brain abnormalities - #618443 cerebral atrophy corpus callosum anomalies polymicrogyria Tags
Green Green List (high evidence)	MAPKAPK5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Neurocardiofaciodigital syndrome, MIM# 619869 Tags
Green Green List (high evidence)	MAPRE2	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Symmetric circumferential skin creases, congenital, 2, MIM#616734 Tags
Green Green List (high evidence)	MASP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes 3MC syndrome 1, MIM# 257920 MONDO:0009770 Tags
Green Green List (high evidence)	MAST1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations - #61827 corpus callosum anomalies cortical malformations cerebellar hypoplasia Tags
Green Green List (high evidence)	MATN3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type, MIM# 608728 Tags
Green Green List (high evidence)	MAX	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Polydactyly-macrocephaly syndrome, MIM# 620712 Tags
Green Green List (high evidence)	MBTPS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Skeletal dysplasia, no OMIM # Tags
Green Green List (high evidence)	MBTPS2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Phenotypes IFAP syndrome with or without BRESHECK syndrome MIM#308205 Osteogenesis imperfecta, type XIX, MIM#301014 Tags
Green Green List (high evidence)	MCIDAS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hydrocephalus Arachnoid cyst Choroid plexus hyperplasia Ciliary dyskinesia, primary, 42 - #618695 Tags
Green Green List (high evidence)	MCOLN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Mucolipidosis IV, MIM# 252650 MONDO:0009653 Tags
Green Green List (high evidence)	MCPH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Microcephaly 1, primary, autosomal recessive, MIM# 251200 Tags
Green Green List (high evidence)	MDFIC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lymphatic malformation 12, MIM# 620014 Tags
Green Green List (high evidence)	MECOM	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 MIM#616738 Tags
Green Green List (high evidence)	MED12	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Lujan-Fryns syndrome, MIM# 309520 Opitz-Kaveggia syndrome, MIM# 305450 Tags
Green Green List (high evidence)	MED13L	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Impaired intellectual development and distinctive facial features with or without cardiac defects MIM#616789 Tags
Green Green List (high evidence)	MED17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668 Tags
Green Green List (high evidence)	MED25	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes multiple congenital anomalies congenital heart defects hypospadias, thin corpus callosum, cerebral ventricular dilatation Basel-Vanagait-Smirin-Yosef syndrome - #616449 Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643 Tags
Green Green List (high evidence)	MED27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia - MIM#619286 Tags
Green Green List (high evidence)	MEF2C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443 MONDO:0013266 Tags SV/CNV
Green Green List (high evidence)	MEGF10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Myopathy, areflexia, respiratory distress, and dysphagia, early-onset (MIM#614399) Tags
Green Green List (high evidence)	MEGF8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Carpenter syndrome 2, MIM #614976 Tags
Green Green List (high evidence)	MEIS2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, MONDO:0010970 Cleft palate, cardiac defects, and mental retardation, OMIM:600987 Tags
Green Green List (high evidence)	MEOX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Klippel-Feil syndrome 2, OMIM:214300 Klippel-Feil syndrome 2, autosomal recessive, MONDO:0008958 Tags
Green Green List (high evidence)	MESD	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Other Phenotypes Osteogenesis imperfecta, type XX, OMIM:618644 Osteogenesis imperfecta, type 20, MONDO:0032846 Tags
Green Green List (high evidence)	MESP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Spondylocostal dysostosis 2, autosomal recessive (MIM#608681) Tags
Green Green List (high evidence)	MFSD2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, MIM# 616486 Tags
Green Green List (high evidence)	MGP	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Keutel syndrome, MIM #245150 Tags
Green Green List (high evidence)	MID1	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Expert Review Red Genomics England PanelApp Phenotypes Opitz GBBB syndrome, type I (MIM#300000) Tags
Green Green List (high evidence)	MINPP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pontocerebellar hypoplasia, type 16 - MIM#619527 Tags
Green Green List (high evidence)	MITF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes COMMAD syndrome, MIM# 617306 Tags
Green Green List (high evidence)	MKKS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Phenotypes McKusick-Kaufman syndrome, MIM# 236700 Bardet-Biedl syndrome 6, MIM# 605231 Tags
Green Green List (high evidence)	MKS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Joubert syndrome 28, MIM# 617121 MONDO:0014928 Meckel syndrome 1, MIM# 249000 MONDO:0009571 Tags
Green Green List (high evidence)	MLC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts (MIM#604004) Tags
Green Green List (high evidence)	MLYCD	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Malonyl-CoA decarboxylase deficiency, MIM# 248360 Tags
Green Green List (high evidence)	MMACHC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Methylmalonic aciduria and homocystinuria, cblC type, (MIM#277400) Tags
Green Green List (high evidence)	MMP21	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Heterotaxy, visceral, 7, autosomal, MIM# 616749 Tags
Green Green List (high evidence)	MN1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes CEBALID syndrome, OMIM:618774 CEBALID syndrome, MONDO:0032908 Tags
Green Green List (high evidence)	MNS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Heterotaxy male infertility Heterotaxy, visceral, 9, autosomal, with male infertility 618948 Tags
Green Green List (high evidence)	MNX1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Currarino syndrome, MIM# 176450 Tags
Green Green List (high evidence)	MOCS1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Molybdenum cofactor deficiency A, MIM# 252150 Tags
Green Green List (high evidence)	MOCS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Molybdenum cofactor deficiency B (MIM#252160) Tags
Green Green List (high evidence)	MOGS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Congenital disorder of glycosylation, type IIb, OMIM:606056 MOGS-CDG, MONDO:0011629 Tags
Green Green List (high evidence)	MPDU1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Congenital disorder of glycosylation, type If, MIM# 609180 MPDU1-CDG, MONDO:0012211 Tags
Green Green List (high evidence)	MPDZ	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Hydrocephalus, congenital, 2, with or without brain or eye anomalies- #615219 Tags founder
Green Green List (high evidence)	MPLKIP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Trichothiodystrophy 4, nonphotosensitive, MIM# 234050 MONDO:0021013 Tags
Green Green List (high evidence)	MPZ	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Hypomyelinating neuropathy, congenital, 2, MIM# 618184 Tags
Green Green List (high evidence)	MRAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Noonan syndrome 11, MONDO:0032786 Noonan syndrome 11, OMIM:618499 Tags
Green Green List (high evidence)	MRPS22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Combined oxidative phosphorylation deficiency 5 (MIM#611719) Tags
Green Green List (high evidence)	MSL3	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Basilicata-Akhtar syndrome, MIM# 301032 Tags
Green Green List (high evidence)	MSMO1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793 Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834 Tags
Green Green List (high evidence)	MSTO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Myopathy, mitochondrial, and ataxia, OMIM:617675 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, MONDO:0044714 Tags
Green Green List (high evidence)	MSX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Orofacial cleft 5 (MIM#608874) Tags
Green Green List (high evidence)	MSX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Craniosynostosis 2 (MIM#604757) Parietal foramina 1 (MIM#168500) Parietal foramina with cleidocranial dysplasia (MIM#168550) Tags
Green Green List (high evidence)	MTM1	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Myotubular myopathy, X-linked, MIM# 310400 Tags
Green Green List (high evidence)	MTO1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Combined oxidative phosphorylation deficiency 10, MIM# 61702 Tags
Green Green List (high evidence)	MTOR	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Smith-Kingsmore syndrome, MIM# 616638 Tags
Green Green List (high evidence)	MTX2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mandibuloacral dysplasia progeroid syndrome - MIM#619127 Tags
Green Green List (high evidence)	MUSK	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Fetal akinesia deformation sequence 1, MIM# 208150 MONDO:0100101 Tags
Green Green List (high evidence)	MVK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mevalonic aciduria-#610377 Hyper-IgD syndrome - #260920 Tags
Green Green List (high evidence)	MYBPC1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Arthrogryposis, distal, type 1B 614335 Lethal congenital contracture syndrome 4, MIM# 614915 Tags
Green Green List (high evidence)	MYBPC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Neonatal hypertrophic cardiomyopathy Cardiomyopathy, hypertrophic, 4 - MIM#115197 Tags
Green Green List (high evidence)	MYCN	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Feingold syndrome 1 (MIM#164280) Megalencephaly-polydactyly syndrome, MIM# 620748 Tags
Green Green List (high evidence)	MYH10	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Literature Phenotypes AD complex neurodevelopmental disorder with or without congenital anomalies (MONDO:0100465) Tags
Green Green List (high evidence)	MYH11	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 (MIM#619351) Tags
Green Green List (high evidence)	MYH2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Proximal myopathy and ophthalmoplegia, OMIM:605637 Myopathy, proximal, and ophthalmoplegia, MONDO:0011577 Tags
Green Green List (high evidence)	MYH3	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Arthrogryposis, distal, type 2A (Freeman-Sheldon) MIM# 193700 Arthrogryposis, distal, type 2B3 (Sheldon-Hall) MIM# 618436 Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A, MIM#178110 Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B, MIM# 618469 Tags
Green Green List (high evidence)	MYH6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Atrial septal defect 3 (MIM#614089) Tags
Green Green List (high evidence)	MYH7	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Ebstein anomaly Laing distal myopathy, MIM# 160500 Tags
Green Green List (high evidence)	MYH8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Trismus-pseudocamptodactyly syndrome (MIM#158300) Tags
Green Green List (high evidence)	MYL9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365 Tags
Green Green List (high evidence)	MYMK	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Carey-Fineman-Ziter syndrome, MONDO:0009700 Carey-Fineman-Ziter syndrome, OMIM:254940 Tags
Green Green List (high evidence)	MYO18B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, MONDO:0014689 Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, OMIM:616549 Tags
Green Green List (high evidence)	MYOCD	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Megabladder, congenital, OMIM:618719 Megabladder, congenital, MONDO:0032879 Tags
Green Green List (high evidence)	MYOD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, OMIM:618975 Tags
Green Green List (high evidence)	MYRF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Cardiac-urogenital syndrome, MIM# 618280 Tags
Green Green List (high evidence)	MYT1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Hemifacial microsomia, MONDO:0015398 Tags
Green Green List (high evidence)	NAA10	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Microphthalmia, syndromic 1, MIM# 309800 Ogden syndrome MIM#300855 Tags
Green Green List (high evidence)	NAA15	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities, MIM 617787 Tags
Green Green List (high evidence)	NACC1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination delayed brain myelination, MIM# 617393) Tags
Green Green List (high evidence)	NADSYN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077 Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845 Tags
Green Green List (high evidence)	NALCN	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Congenital contractures of the limbs and face, hypotonia, and developmental delay (MIM#616266) Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (MIM#615419) Tags
Green Green List (high evidence)	NANS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Spondyloepimetaphyseal dysplasia, Camera-Genevieve type (MIM#610442) Tags
Green Green List (high evidence)	NARS	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive - MIM#619091 Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant - MIM#619092 Tags
Green Green List (high evidence)	NBAS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly (MIM#614800) bone fragility developmental delay immunodeficiency autism Tags
Green Green List (high evidence)	NBN	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Nijmegen breakage syndrome, MIM# 251260 Tags
Green Green List (high evidence)	NCAPD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Microcephaly 21, primary, autosomal recessive OMIM #617983 Tags
Green Green List (high evidence)	NDE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Lissencephaly 4 (with microcephaly), MIM# 614019 MONDO:0013527 Microhydranencephaly, MIM# 605013 MONDO:0011504 Tags
Green Green List (high evidence)	NDP	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Norrie disease, MIM# 310600 Tags
Green Green List (high evidence)	NDUFAF5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Mitochondrial complex I deficiency, nuclear type 16, MIM# 618238 Tags
Green Green List (high evidence)	NDUFB11	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genomics England PanelApp Phenotypes Mitochondrial complex I deficiency, nuclear type 30 MIM#301021 Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952) Tags
Green Green List (high evidence)	NEB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Arthrogryposis multiplex congenita 6, MIM# 619334 Tags
Green Green List (high evidence)	NECTIN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Orofacial cleft 7, OMIM:225060 Cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 Zlotogora-Ogur syndrome Tags
Green Green List (high evidence)	NECTIN4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Ectodermal dysplasia-syndactyly syndrome 1 (MIM#613573) Tags
Green Green List (high evidence)	NEDD4L	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Literature Phenotypes Periventricular nodular heterotopia 7, MONDO:0014966 Periventricular nodular heterotopia 7, OMIM:617201 Tags
Green Green List (high evidence)	NEK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520 Orofaciodigital syndrome II , MIM# 252100 Tags
Green Green List (high evidence)	NEK8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Phenotypes Renal-hepatic-pancreatic dysplasia 2, MONDO:0014174 Renal-hepatic-pancreatic dysplasia 2, OMIM:615415 Nephronophthisis 9, OMIM:613824 Nephronophthisis 9, MONDO:0013444 Tags
Green Green List (high evidence)	NEU1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Sialidosis, type I, type II (MIM#256550) Tags
Green Green List (high evidence)	NEXN	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lethal fetal cardiomyopathy Hydrops fetalis Cardiomyopathy, dilated 1CC - MIM#613122 Tags
Green Green List (high evidence)	NF1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Neurofibromatosis, type 1, MIM# 162200 Neurofibromatosis-Noonan syndrome, MIM# 601321 Tags
Green Green List (high evidence)	NFIA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Phenotypes Brain malformations with or without urinary tract defects - MIM#613735 Tags
Green Green List (high evidence)	NFIB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Macrocephaly, acquired, with impaired intellectual development - MIM#618286 Tags
Green Green List (high evidence)	NFIX	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Sotos syndrome 2 (MIM#614753) Marshall-Smith syndrome, MIM# 602535 Tags
Green Green List (high evidence)	NHEJ1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291 Cernunnos-XLF deficiency MONDO:0012650 Tags
Green Green List (high evidence)	NHS	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Nance-Horan syndrome, MIM# 302350 Tags
Green Green List (high evidence)	NID1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Dandy-Walker malformation and occipital cephalocele Hydrocephalus with or without seizures Tags
Green Green List (high evidence)	NIPBL	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Cornelia de Lange syndrome 1, MIM# 122470 Tags
Green Green List (high evidence)	NKX2-5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Atrial septal defect 7, with or without AV conduction defects, MIM# 108900 Hypoplastic left heart syndrome 2, MIM# 614435 Tetralogy of Fallot, MIM# 187500 Ventricular septal defect 3, MIM# 614432 Hypothyroidism, congenital nongoitrous, 5, MIM# 225250 Tags
Green Green List (high evidence)	NKX2-6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Conotruncal heart malformations - MIM#217095 Persistent truncus arteriosus - MIM#217095 Tags
Green Green List (high evidence)	NKX3-2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Spondylo-megaepiphyseal-metaphyseal dysplasia (MIM#613330) Tags
Green Green List (high evidence)	NME8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes CINCA syndrome, OMIM # 607115 Tags
Green Green List (high evidence)	NONO	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Mental retardation, X-linked, syndromic 34, MIM# 300967 Ventricular septal defect (VSD) Pulmonary stenosis Ebstein s anomaly Left ventricular non-compaction cardiomyopathy (LVNC) Tags
Green Green List (high evidence)	NOTCH1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Adams-Oliver syndrome 5 (MIM#616028) Tags
Green Green List (high evidence)	NOTCH2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Alagille syndrome 2 (MIM#610205) Hajdu-Cheney syndrome (MIM#102500) Tags
Green Green List (high evidence)	NOVA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, MIM# 618859 Tags
Green Green List (high evidence)	NPC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Niemann-Pick disease, type C1/ type D (MIM#257220) Tags
Green Green List (high evidence)	NPHP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Joubert syndrome 4, MIM# 609583 Tags
Green Green List (high evidence)	NPHP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Meckel syndrome 7, MIM# 267010 Nephronophthisis 3, MIM# 604387 Renal-hepatic-pancreatic dysplasia 1, MIM# 208540 Tags
Green Green List (high evidence)	NPHP4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Phenotypes Nephronophthisis 4, MIM# 606966 Senior-Loken syndrome 4, MIM# 606996 Tags
Green Green List (high evidence)	NPHS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Nephrotic syndrome, type 1 (MIM#256300) Tags
Green Green List (high evidence)	NPNT	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Renal agenesis, MONDO:0018470, NPNT-related Tags
Green Green List (high evidence)	NPR2	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Acromesomelic dysplasia 1, Maroteaux type (MIM#602875) Epiphyseal chondrodysplasia, Miura type (MIM#615923) Short stature with nonspecific skeletal abnormalities (MIM#616255) Tags
Green Green List (high evidence)	NPRL2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Epilepsy, familial focal, with variable foci 2 - MIM#617116 Tags
Green Green List (high evidence)	NPRL3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Epilepsy, familial focal, with variable foci 3- MIM#617118 Tags
Green Green List (high evidence)	NR2F2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Literature Phenotypes Congenital heart defects, multiple types, 4, MIM# 615779 Tags
Green Green List (high evidence)	NR5A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes 46, XX sex reversal 4 (MIM#617480) 46XY sex reversal 3 (MIM#612965) Tags
Green Green List (high evidence)	NRAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Noonan syndrome 6, MIM# 613224 Tags
Green Green List (high evidence)	NSD1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Sotos syndrome 1, MIM# 117550 Tags
Green Green List (high evidence)	NSD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Rauch-Steindl syndrome, MIM# 619695 Tags
Green Green List (high evidence)	NSDHL	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Phenotypes CK syndrome , MIM#300831 Tags
Green Green List (high evidence)	NSRP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Neurodevelopmental disorder, MONDO:0700092, NSRP1-related Epilepsy Cerebral palsy microcephaly Intellectual disability Tags
Green Green List (high evidence)	NUBPL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Mitochondrial complex I deficiency, nuclear type 21 (MIM#618242) Tags
Green Green List (high evidence)	NUDT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with or without peripheral neuropathy MIM#619844 Tags
Green Green List (high evidence)	NUP107	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Galloway-Mowat syndrome 7, MIM# 618348 Tags
Green Green List (high evidence)	NUP188	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Sandestig-Stefanova syndrome, 618804 microcephaly ID cataract structural brain abnormalities Tags
Green Green List (high evidence)	NUP88	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Fetal akinesia deformation sequence 4, MONDO:0100104 Fetal akinesia deformation sequence 4, OMIM:618393 Tags
Green Green List (high evidence)	NXN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Robinow syndrome, autosomal recessive 2, OMIM:618529 Robinow syndrome, autosomal recessive 2, MONDO:0032800 Tags
Green Green List (high evidence)	OBSL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes 3-M syndrome 2 (MIM#612921) Tags
Green Green List (high evidence)	OCLN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Pseudo-TORCH syndrome 1 (MIM#251290) Tags
Green Green List (high evidence)	OCRL	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Lowe syndrome, OMIM:309000 Dent disease 2, OMIM:300555 Tags
Green Green List (high evidence)	OFD1	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Orofaciodigital syndrome I, MIM# 311200 Joubert syndrome 10, MIM# 300804 Tags
Green Green List (high evidence)	OPHN1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Phenotypes Intellectual developmental disorder, X-linked syndromic, Billuart type (MIM#300486) Tags
Green Green List (high evidence)	ORAI1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Myopathy, tubular aggregate, 2 - #615883 Tags
Green Green List (high evidence)	ORC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Meier-Gorlin syndrome 1, MIM# 224690 Tags
Green Green List (high evidence)	ORC4	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Meier-Gorlin syndrome 2, MIM# 613800 MONDO:0013428 Tags
Green Green List (high evidence)	ORC6	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Meier-Gorlin syndrome 3, MIM# 613803 Tags
Green Green List (high evidence)	OSGEP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Galloway-Mowat syndrome 3, OMIM:617729 Galloway-Mowat syndrome 3, MONDO:0033007 Tags
Green Green List (high evidence)	OSTM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Osteopetrosis, autosomal recessive 5 (MIM#259720) Tags
Green Green List (high evidence)	OTUD5	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, OMIM:301056 Tags
Green Green List (high evidence)	OTUD6B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452 Tags
Green Green List (high evidence)	OTX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Microphthalmia, syndromic 5, MIM# 610125 Tags
Green Green List (high evidence)	P3H1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Osteogenesis imperfecta, type VIII 610915 Tags
Green Green List (high evidence)	P4HB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Cole-Carpenter syndrome 1, OMIM:112240 Cole-Carpenter syndrome 1, MONDO:0007204 Tags
Green Green List (high evidence)	PACS1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Literature Phenotypes Schuurs-Hoeijmakers syndrome (MIM# 615009) Tags
Green Green List (high evidence)	PACS2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 66 - MIM#618067 Tags
Green Green List (high evidence)	PAFAH1B1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Lissencephaly 1, MIM# 607432 Subcortical laminar heterotopia, MIM# 607432 MONDO:0011830 Tags
Green Green List (high evidence)	PAK3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Mental retardation, X-linked 30/47, MIM# 300558 Agenesis of the corpus callosum Tags
Green Green List (high evidence)	PALB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group N, MIM# 610832 Tags
Green Green List (high evidence)	PAM16	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM # 613320 Tags
Green Green List (high evidence)	PAN2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Syndromic disease MONDO:0002254 Tags
Green Green List (high evidence)	PAPSS2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847 Tags
Green Green List (high evidence)	PARN	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Dyskeratosis congenita, autosomal recessive 6, MIM# 616353 Tags
Green Green List (high evidence)	PARP6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability Epilepsy Microcephaly Tags
Green Green List (high evidence)	PAX2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Papillorenal syndrome, MIM# 120330 Renal coloboma syndrome, MONDO:0007352 Tags
Green Green List (high evidence)	PAX3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Craniofacial-deafness-hand syndrome, MIM#122880 Waardenburg syndrome, type 1, MIM#193500 Waardenburg syndrome, type 3, MIM#148820 Tags
Green Green List (high evidence)	PAX6	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Microphthalmia Coloboma, ocular, MIM# 120200 Tags
Green Green List (high evidence)	PBX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM:617641 Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, MONDO:0060549 Tags
Green Green List (high evidence)	PCDH12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280 Tags
Green Green List (high evidence)	PCGF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Turnpenny-Fry syndrome, MIM# 618371 Tags
Green Green List (high evidence)	PCNT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720 MONDO:0008872 Tags
Green Green List (high evidence)	PDCD10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Cerebral cavernous malformations 3 MIM#603285 Tags
Green Green List (high evidence)	PDE3A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Hypertension and brachydactyly syndrome - #112410 Tags
Green Green List (high evidence)	PDE4D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Acrodysostosis 2, with or without hormone resistance, MIM# 614613 Tags
Green Green List (high evidence)	PDE6D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome 22 - MIM#615665 Tags
Green Green List (high evidence)	PDGFRB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Premature aging syndrome, Penttinen type, MIM# 601812 Tags
Green Green List (high evidence)	PDHA1	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170 Tags
Green Green List (high evidence)	PET100	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055 Tags
Green Green List (high evidence)	PEX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Peroxisome biogenesis disorder 1A (Zellweger) (MIM#214100) Tags
Green Green List (high evidence)	PEX10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Peroxisome biogenesis disorder 6A (Zellweger), MIM# 614870 Tags
Green Green List (high evidence)	PEX11B	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Peroxisome biogenesis disorder 14B, MIM# 614920 Tags
Green Green List (high evidence)	PEX12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Peroxisome biogenesis disorder 3A (Zellweger), MIM# 614859 Tags
Green Green List (high evidence)	PEX13	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Peroxisome biogenesis disorder 11A (Zellweger), MIM# 614883 Tags
Green Green List (high evidence)	PEX14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887 Tags
Green Green List (high evidence)	PEX16	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Peroxisome biogenesis disorder 8A (Zellweger), MIM# 614876 Tags
Green Green List (high evidence)	PEX19	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Peroxisome biogenesis disorder 12A (Zellweger), MIM# 614886 Tags
Green Green List (high evidence)	PEX2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Peroxisome biogenesis disorder 5A (Zellweger), MIM# 614866 Tags
Green Green List (high evidence)	PEX26	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Peroxisome biogenesis disorder 7A (Zellweger), MIM# 614872 Tags
Green Green List (high evidence)	PEX3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882 Tags
Green Green List (high evidence)	PEX5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110 Tags
Green Green List (high evidence)	PEX6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862) Tags
Green Green List (high evidence)	PEX7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Peroxisome biogenesis disorder 9B, OMIM# 614879 Rhizomelic chondrodysplasia punctata, type 1, OMIM# 215100 Tags
Green Green List (high evidence)	PGAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, MIM# 615802 Tags
Green Green List (high evidence)	PGAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628 Tags
Green Green List (high evidence)	PGAP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318 Tags
Green Green List (high evidence)	PGM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type It 614921 Tags
Green Green List (high evidence)	PHEX	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes Hypophosphatemic rickets, X-linked dominant - MIM#307800 Tags
Green Green List (high evidence)	PHF21A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, MIIM# 618725 Tags
Green Green List (high evidence)	PHF5A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder (MONDO#0700092), PHF5A-related Tags
Green Green List (high evidence)	PHF8	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Intellectual developmental disorder, X-linked, syndromic, Siderius type, MIM# 300263 Tags
Green Green List (high evidence)	PHGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Neu-Laxova syndrome 1, MIM# 256520 Tags
Green Green List (high evidence)	PHOX2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, OMIM #209880 Tags
Green Green List (high evidence)	PI4KA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MIM#616531 Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679 Tags
Green Green List (high evidence)	PIBF1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Literature Phenotypes Joubert syndrome 33, MONDO:0033311 Joubert syndrome 33, OMIM:617767 Tags
Green Green List (high evidence)	PIDD1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827 Pachygyria Lissencephaly Abnormality of the corpus callosum Tags
Green Green List (high evidence)	PIEZO1	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, OMIM #194380 Lymphatic malformation 6, OMIM #616843 Tags
Green Green List (high evidence)	PIEZO2	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Marden-Walker syndrome, MIM# 248700 Arthrogryposis, distal, type 3, MIM# 114300 Tags
Green Green List (high evidence)	PIGA	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868 Tags
Green Green List (high evidence)	PIGH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010 Tags
Green Green List (high evidence)	PIGL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes CHIME syndrome, MIM# 280000, MONDO:0010221 Tags SV/CNV
Green Green List (high evidence)	PIGN	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 1, MONDO:0013563 Multiple congenital anomalies-hypotonia-seizures syndrome 1, OMIM:614080 Tags
Green Green List (high evidence)	PIGO	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882 Tags
Green Green List (high evidence)	PIGT	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165 Tags
Green Green List (high evidence)	PIGV	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398 Tags
Green Green List (high evidence)	PIH1D3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 36, X-linked, OMIM:300991 Ciliary dyskinesia, primary, 36, X-linked, MONDO:0010517 Tags
Green Green List (high evidence)	PIK3C2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Oculocerebrodental syndrome, MONDO:0034145 Oculoskeletodental syndrome, OMIM:618440 Tags
Green Green List (high evidence)	PIK3CA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937 Tags
Green Green List (high evidence)	PIK3R1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes SHORT syndrome, MIM#269880 Tags
Green Green List (high evidence)	PIK3R2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM# 603387 Tags
Green Green List (high evidence)	PIP5K1C	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Lethal congenital contractural syndrome 3 - #611369 Tags
Green Green List (high evidence)	PITX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Brachydactyly-elbow wrist dysplasia syndrome, MONDO:0008520 Clubfoot, MONDO:0007342 Liebenberg syndrome, OMIM:186550 Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, OMIM:119800 Tags
Green Green List (high evidence)	PITX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Anterior segment dysgenesis 4, OMIM #137600 Axenfeld-Rieger syndrome, type 1, OMIM #180500 Tags
Green Green List (high evidence)	PITX3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250 Cataract 11, multiple types, MIM# 610623 Microphthalmia Tags
Green Green List (high evidence)	PKD1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Polycystic kidney disease 1, OMIM #173900 Tags
Green Green List (high evidence)	PKD1L1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Heterotaxy, visceral, 8, autosomal (MIM#617205) Tags
Green Green List (high evidence)	PKD2	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Polycystic kidney disease 2, OMIM #613095 Tags
Green Green List (high evidence)	PKHD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Genomics England PanelApp Phenotypes Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200 Tags
Green Green List (high evidence)	PKLR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Pyruvate kinase deficiency 266200 Tags
Green Green List (high evidence)	PKP2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dilated cardiomyopathy, MONDO:0005021, PKP2-related dilated cardiomyopathy hypoplastic left heart syndrome hydrops fetalis ventricular septal defect left ventricular non-compaction Tags
Green Green List (high evidence)	PLAA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, MIM# 617527 Tags
Green Green List (high evidence)	PLAG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Silver-Russell syndrome 4, OMIM:618907 Silver-russell syndrome 4, MONDO:0030118 Tags
Green Green List (high evidence)	PLCB4	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Auriculocondylar syndrome 2A, MIM# 614669 Auriculocondylar syndrome 2B, MIM# 620458 Tags
Green Green List (high evidence)	PLD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Cardiac valvular defect, developmental, OMIM:212093 Tags
Green Green List (high evidence)	PLEC	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epidermolysis bullosa simplex 5C, with pyloric atresia MIM#612138 Epidermolysis bullosa simplex with muscular dystrophy, MIM# 226670 Epidermolysis bullosa simplex 5A, Ogna type MIM#131950 Muscular dystrophy, limb-girdle, autosomal recessive 17 (MIM#613723) Tags
Green Green List (high evidence)	PLG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Plasminogen deficiency, type I, MIM# 217090 Hydrocephalus Tags
Green Green List (high evidence)	PLK4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM #616171 Tags
Green Green List (high evidence)	PLOD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Ehlers-Danlos syndrome, kyphoscoliotic type, 1, OMIM #225400 Tags
Green Green List (high evidence)	PLOD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Bruck syndrome 2 , OMIM #609220 Tags
Green Green List (high evidence)	PLOD3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lysyl hydroxylase 3 deficiency - MIM#612394 Stickler-syndrome like Tags
Green Green List (high evidence)	PLPBP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Epilepsy, early-onset, vitamin B6-dependent, MIM# 617290 Tags
Green Green List (high evidence)	PLS3	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Literature Phenotypes Bone mineral density QTL18, osteoporosis - MIM#300910 Diaphragmatic hernia 5, X-linked, MIM# 306950 Tags
Green Green List (high evidence)	PLXND1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital heart defects, multiple types, 9, MIM# 620294 Tags
Green Green List (high evidence)	PMM2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Congenital disorder of glycosylation, type Ia , MIM#212065 Tags
Green Green List (high evidence)	PNKP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Microcephaly, seizures, and developmental delay, MIM#613402 Tags
Green Green List (high evidence)	POC1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM#614813 Tags
Green Green List (high evidence)	POGZ	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes White-Sutton syndrome, MIM# 616364 MONDO:0014606 Tags
Green Green List (high evidence)	POLD1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 615381 Tags
Green Green List (high evidence)	POLE	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes IMAGE-I syndrome 618336 Tags
Green Green List (high evidence)	POLR1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Acrofacial dysostosis, Cincinnati type, OMIM:616462 Acrofacial dysostosis Cincinnati type, MONDO:0014651 Tags
Green Green List (high evidence)	POLR1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Treacher-Collins syndrome type 4 Tags
Green Green List (high evidence)	POLR1C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Treacher Collins syndrome 3, MIM# 248390 Tags
Green Green List (high evidence)	POLR1D	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Treacher Collins syndrome 2, MIM# 613717 Tags
Green Green List (high evidence)	POLR3A	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Wiedemann-Rautenstrauch syndrome, MIM# 264090 Tags
Green Green List (high evidence)	POMGNT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, 253280 Tags
Green Green List (high evidence)	POMGNT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, MIM# 614830 Tags
Green Green List (high evidence)	POMK	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A 615249 Tags
Green Green List (high evidence)	POMT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670 Walker-Walburg syndrome Tags
Green Green List (high evidence)	POMT2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150 Tags
Green Green List (high evidence)	POP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Anauxetic dysplasia 2, OMIM:617396 Anauxetic dysplasia 2, MONDO:0054561 Tags
Green Green List (high evidence)	POR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750 Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571 Tags
Green Green List (high evidence)	PORCN	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Focal dermal hypoplasia, MIM# 305600 Tags
Green Green List (high evidence)	POU1F1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Pituitary hormone deficiency, combined, 1, MIM# 613038 Tags
Green Green List (high evidence)	PPIB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Osteogenesis imperfecta, type IX, MIM# 259440 Tags
Green Green List (high evidence)	PPIL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pontocerebellar hypoplasia, type 14, MIM# 619301 microcephaly seizures Tags
Green Green List (high evidence)	PPP1CB	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Literature Phenotypes Noonan syndrome-like disorder with loose anlagen hair 2, OMIM # 617506 Tags
Green Green List (high evidence)	PPP1R12A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Intellectual disability holoprosencephaly disorder of sex development Tags
Green Green List (high evidence)	PPP1R13L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519 Tags
Green Green List (high evidence)	PPP2CA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Phenotypes Neurodevelopmental disorder and language delay with or without structural brain abnormalities - MIM#618354 Tags
Green Green List (high evidence)	PPP2R1A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Literature Phenotypes Mental retardation, autosomal dominant 36, MIM#616362 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605 Tags
Green Green List (high evidence)	PPP2R3C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, OMIM # 618419 Tags
Green Green List (high evidence)	PPP2R5D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Mental retardation, autosomal dominant 35, MIM#616355 Tags
Green Green List (high evidence)	PQBP1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Renpenning syndrome, MIM#309500 Tags
Green Green List (high evidence)	PRF1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Other Phenotypes Aplastic anaemia - #609135 Haemophagocytic lymphohistiocytosis, familial, 2 - #603553 Tags
Green Green List (high evidence)	PRG4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 208250 Tags
Green Green List (high evidence)	PRKACA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Phenotypes Cardioacrofacial dysplasia 1-MIM#619142 Tags
Green Green List (high evidence)	PRKACB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Phenotypes Cardioacrofacial dysplasia 2 - MIM#619143 Tags
Green Green List (high evidence)	PRKAG2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes Glycogen storage disease of heart, lethal congenital, OMIM:261740 Lethal congenital glycogen storage disease of heart, MONDO:0009867 Tags
Green Green List (high evidence)	PRKAR1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Acrodysostosis 1, with or without hormone resistance, MIM#101800 Tags
Green Green List (high evidence)	PRKD1	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Congenital heart defects and ectodermal dysplasia, MIM#617364 Tags
Green Green List (high evidence)	PRMT7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Short stature, brachydactyly, intellectual developmental disability, and seizures, OMIM #617157 Tags
Green Green List (high evidence)	PRR12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Neuroocular syndrome, MIM#619539 Complex microphthalmia Tags
Green Green List (high evidence)	PRRX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Agnathia-otocephaly complex, MIM# 202650 Tags
Green Green List (high evidence)	PRSS56	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Microphthalmia, isolated 6, MIM# 613517 Tags
Green Green List (high evidence)	PRUNE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, OMIM:617481 Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, MONDO:0060490 Tags
Green Green List (high evidence)	PSAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Neu-Laxova syndrome 2, MONDO:0014466 Neu-Laxova syndrome 2, OMIM:616038 Tags
Green Green List (high evidence)	PSMF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related Tags
Green Green List (high evidence)	PSPH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Phosphoserine phosphatase deficiency , MIM#614023 Neu-Luxova syndrome Tags
Green Green List (high evidence)	PTCH1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Holoprosencephaly 7, MIM# 610828 Tags
Green Green List (high evidence)	PTDSS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Lenz-Majewski hyperostotic dwarfism MIM#151050 Tags
Green Green List (high evidence)	PTF1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Pancreatic and cerebellar agenesis, MIM# 609069 Tags
Green Green List (high evidence)	PTH1R	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Chondrodysplasia, Blomstrand type, MIM# 215045 Tags
Green Green List (high evidence)	PTPN11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes LEOPARD syndrome 1, AD, MIM#151100 AD Noonan syndrome 1, AD, MIM#163950 Tags
Green Green List (high evidence)	PTPN14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Lymphedema-posterior choanal atresia syndrome, MONDO:0013324 Choanal atresia and lymphedema, OMIM:613611 Tags
Green Green List (high evidence)	PTPN23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890 Tags
Green Green List (high evidence)	PTS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640 Tags
Green Green List (high evidence)	PUF60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Verheij syndrome, MIM# 615583 Tags
Green Green List (high evidence)	PXDN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Anterior segment dysgenesis 7, with sclerocornea, MIM# 269400 Tags
Green Green List (high evidence)	PYCR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Cutis laxa, autosomal recessive, type IIB, MIM# 612940 Tags
Green Green List (high evidence)	QARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760 Tags
Green Green List (high evidence)	RAB11B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, MIM# 617807 Tags
Green Green List (high evidence)	RAB18	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Warburg micro syndrome 3, MIM# 614222 Tags
Green Green List (high evidence)	RAB23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Carpenter syndrome (MIM#201000) Tags
Green Green List (high evidence)	RAB34	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Orofaciodigital syndrome 20, MIM#620718 Tags
Green Green List (high evidence)	RAB3GAP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Warburg micro syndrome 1, MIM# 600118 Martsolf syndrome 2, MIM# 619420 Tags
Green Green List (high evidence)	RAB3GAP2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Warburg micro syndrome 2, MIM# 614225 Tags
Green Green List (high evidence)	RAC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Mental retardation, autosomal dominant 48, MIM# 617751 Tags
Green Green List (high evidence)	RAD21	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Cornelia de Lange syndrome 4, MIM# 614701 Holoprosencephaly Tags
Green Green List (high evidence)	RAD50	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Nijmegen breakage syndrome-like disorder, MIM# 613078 MONDO:0013118 Tags
Green Green List (high evidence)	RAD51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Genomics England PanelApp Phenotypes Fanconi anaemia, complementation group R, MIM# 617244 Tags
Green Green List (high evidence)	RAD51C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Fanconi anemia, complementation group O, MIM# 613390 Tags
Green Green List (high evidence)	RAF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Noonan syndrome 5, MIM# 611553 Tags
Green Green List (high evidence)	RAI1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Smith-Magenis syndrome (MIM#182290) Tags
Green Green List (high evidence)	RAP1B	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654 Tags
Green Green List (high evidence)	RAPSN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, MIM#616326 Fetal akinesia deformation sequence 2, MIM# 618388 Tags
Green Green List (high evidence)	RARB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Microphthalmia, syndromic 12, MIM# 615524 Tags
Green Green List (high evidence)	RARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 6, MIM# 611523 Tags
Green Green List (high evidence)	RASA1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Genomics England PanelApp Literature Phenotypes Capillary malformation-arteriovenous malformation 1, MIM# 608354 Tags
Green Green List (high evidence)	RAX	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Microphthalmia, isolated 3, MIM# 611038 Tags
Green Green List (high evidence)	RBBP8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Jawad syndrome, MIM# 251255 Seckel syndrome 2, MONDO:0011715 Seckel syndrome 2, OMIM:606744 Tags
Green Green List (high evidence)	RBM10	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Tarp syndrome, MONDO:0010711 TARP syndrome, OMIM:311900 Tags
Green Green List (high evidence)	RBM8A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Thrombocytopaenia-absent radius syndrome, MIM# 274000 Tags SV/CNV
Green Green List (high evidence)	RBP4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Microphthalmia, isolated, with coloboma 10 MIM#616428 Tags
Green Green List (high evidence)	RBPJ	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Adams-Oliver syndrome 3, MIM#614814 Tags
Green Green List (high evidence)	RECQL4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Baller-Gerold syndrome, MIM# 218600 RAPADILINO syndrome, MIM# 266280 Rothmund-Thomson syndrome, type 2,MIM#268400 Tags
Green Green List (high evidence)	RELN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Lissencephaly 2 (Norman-Roberts type), MIM# 257320 Tags
Green Green List (high evidence)	REN	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Renal tubular dysgenesis, MIM#267430 Tags
Green Green List (high evidence)	RERE	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975 Tags
Green Green List (high evidence)	RET	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Central hypoventilation syndrome, congenital, MIM#209880 Multiple endocrine neoplasia IIA, MIM#171400 Multiple endocrine neoplasia IIB, MIM#162300 Tags
Green Green List (high evidence)	RFX6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Mitchell-Riley syndrome, MIM#615710 Tags
Green Green List (high evidence)	RHEB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability Macrocephaly Focal cortical dysplasia Tags
Green Green List (high evidence)	RIN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Macrocephaly, alopecia, cutis laxa, and scoliosis, MIM#613075 Tags
Green Green List (high evidence)	RIPK4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Popliteal pterygium syndrome, Bartsocas-Papas type, MIM# 263650 Tags
Green Green List (high evidence)	RIT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Noonan syndrome 8, MIM# 615355 Tags
Green Green List (high evidence)	RLIM	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Tonne-Kalscheuer syndrome, MIM# 300978 Tags
Green Green List (high evidence)	RMND1	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Combined oxidative phosphorylation deficiency 11, MIM# MIM#614922 Tags
Green Green List (high evidence)	RMRP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Anauxetic dysplasia 1, MIM#607095 Tags
Green Green List (high evidence)	RNASEH2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Aicardi-Goutieres syndrome 4 MIM#610333 Tags
Green Green List (high evidence)	RNASEH2B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Aicardi-Goutieres syndrome 2, MIM# 610181 Tags
Green Green List (high evidence)	RNASEH2C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Aicardi-Goutieres syndrome 3 (MIM# 610329), AR Tags
Green Green List (high evidence)	RNF113A	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Trichothiodystrophy 5, nonphotosensitive OMIM #300953 Tags
Green Green List (high evidence)	RNF125	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Tenorio syndrome - MIM# 616260 Tags
Green Green List (high evidence)	RNU12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes CDAGS syndrome MIM#603116 Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations Tags
Green Green List (high evidence)	RNU4ATAC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Microcephalic osteodysplastic primordial dwarfism, type I, MIM#210710 Roifman syndrome, MIM#616651 Tags
Green Green List (high evidence)	ROBO1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Tetralogy of Fallot and septal defects Congenital heart disease, MONDO:0005453 Tags
Green Green List (high evidence)	ROBO2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Vesicoureteral reflux 2 - MIM#610878 CAKUT Tags
Green Green List (high evidence)	ROBO3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Gaze palsy, familial horizontal, with progressive scoliosis 1, MONDO:0020790 Gaze palsy, familial horizontal, with progressive scoliosis, 1, OMIM:607313 Tags
Green Green List (high evidence)	ROGDI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Kohlschutter-Tonz syndrome, MIM# 226750 Tags
Green Green List (high evidence)	ROR2	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Brachydactyly, type B1 MIM#113000 Robinow syndrome, autosomal recessive MIM#268310 Tags
Green Green List (high evidence)	RPGRIP1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Joubert syndrome 7, MIM# 611560 Meckel syndrome 5, MIM# 611561 Tags
Green Green List (high evidence)	RPL10	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Intellectual disability, X-linked, syndromic, 35, MONDO:0030908 Mental retardation, X-linked, syndromic, 35, OMIM:300998 Tags
Green Green List (high evidence)	RPL11	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia with cleft palate and abnormal thumbs Diamond-Blackfan anaemia 7, MIM# 612562 MONDO:0012938 Tags
Green Green List (high evidence)	RPL15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Diamond-Blackfan anemia 12 - MIM#615550 multiple congenital malformations hydrops Tags
Green Green List (high evidence)	RPL35A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 5, OMIM:612528 Diamond-Blackfan anemia 5, MONDO:0012925 Tags
Green Green List (high evidence)	RPL5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anaemia 6, MIM# 612561 MONDO:0012937 Tags
Green Green List (high evidence)	RPS10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anaemia 9, MIM# 613308 Tags
Green Green List (high evidence)	RPS17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anaemia 4, MIM# 612527 Tags
Green Green List (high evidence)	RPS19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anaemia 1, MIM# 105650 MONDO:0007110 Tags
Green Green List (high evidence)	RPS24	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Diamond-blackfan anemia 3, OMIM:610629 Diamond-Blackfan anemia 3, MONDO:0012529 Tags
Green Green List (high evidence)	RPS26	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 10, MIM# 613309 MONDO:0013217 Tags
Green Green List (high evidence)	RPS6KA3	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genomics England PanelApp Phenotypes Coffin-Lowry syndrome MIM#303600 Intellectual developmental disorder, X-linked 19 MIM#300844 Tags
Green Green List (high evidence)	RPS7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 8, MONDO:0012939 Diamond-Blackfan anemia 8, OMIM:612563 Tags
Green Green List (high evidence)	RRAS2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Noonan syndrome 12, MONDO:0032839 Noonan syndrome 12, OMIM:618624 Tags
Green Green List (high evidence)	RSPO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Tetraamelia syndrome 2, MIM# 618021 Tags
Green Green List (high evidence)	RTEL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Dyskeratosis congenita, autosomal recessive 5 MIM#615190 Hoyeraal-Hreidarsson syndrome Tags
Green Green List (high evidence)	RTTN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Microcephaly, short stature, and polymicrogyria with seizures, MIM# 614833 Microcephalic primordial dwarfism due to RTTN deficiency MONDO:0018764 Tags
Green Green List (high evidence)	RUNX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Cleidocranial dysplasia MIM#119600 Cleidocranial dysplasia, forme fruste, with brachydactyly MIM#119600 Tags
Green Green List (high evidence)	RYR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Fetal akinesia sequence Tags
Green Green List (high evidence)	SALL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Townes-Brocks syndrome 1, MIM#107480 MONDO:0054581 Tags
Green Green List (high evidence)	SALL4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Duane-radial ray syndrome, MIM# 607323 MONDO:0011812 IVIC syndrome, MIM# 147750 MONDO:0007836 Tags
Green Green List (high evidence)	SAMD9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes MIRAGE syndrome, MIM#617053 Tags
Green Green List (high evidence)	SAMHD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Aicardi-Goutieres syndrome 5, MIM#612952 Tags
Green Green List (high evidence)	SASS6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Microcephaly 14, primary, autosomal recessive, MIM# 616402 Tags
Green Green List (high evidence)	SATB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Glass syndrome, MIM# 612313 MONDO:0100147 Tags
Green Green List (high evidence)	SBDS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Shwachman-Diamond syndrome, MIM#260400 Tags
Green Green List (high evidence)	SC5D	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Lathosterolosis, MIM#607330 Tags
Green Green List (high evidence)	SCAF4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Fliedner-Zweier syndrome, MIM#620511 Tags
Green Green List (high evidence)	SCARF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Van den Ende-Gupta syndrome, MIM# 600920 Tags
Green Green List (high evidence)	SCLT1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Orofaciodigital syndrome type IX Senior-Loken syndrome Bardet-Biedl syndrome Tags
Green Green List (high evidence)	SCN1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Dravet syndrome, OMIM:607208 Arthrogryposis multiplex congenita Tags
Green Green List (high evidence)	SCN2A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes Developmental and epileptic encephalopathy 11, MIM#613721 Tags
Green Green List (high evidence)	SCN3A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Literature Phenotypes Epilepsy, familial focal, with variable foci 4, MIM# 617935 Epileptic encephalopathy, early infantile, 62, MIM# 617938 Intellectual disability Malformations of cortical development Tags
Green Green List (high evidence)	SCN4A	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Congenital myopathy 22B, severe fetal, MIM# 620369 Myasthenic syndrome, congenital, 16 MIM#614198 Tags
Green Green List (high evidence)	SCN5A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Expert Review Green Literature Phenotypes Sudden infant death syndrome, susceptibility to - #272120 Long QT syndrome 3 - #603830 Tags
Green Green List (high evidence)	SCNN1A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pseudohypoaldosteronism, type I - MIM#264350 Tags
Green Green List (high evidence)	SCNN1B	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pseudohypoaldosteronism, type I - MIM#264350 Tags
Green Green List (high evidence)	SCNN1G	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pseudohypoaldosteronism, type I - MIM#264350 Tags
Green Green List (high evidence)	SCO2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377 Tags
Green Green List (high evidence)	SCUBE3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 MONDO:0030953 Tags
Green Green List (high evidence)	SDCCAG8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Phenotypes Bardet-Biedl syndrome 16, MIM# 615993 MONDO:0014444 Senior-Loken syndrome 7, MIM# 613615 MONDO:0013326 Nephronophthisis Tags
Green Green List (high evidence)	SEC23B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Dyserythropoietic anemia, congenital, type II 224100 COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies) Tags
Green Green List (high evidence)	SEC24D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Cole-Carpenter syndrome 2, MIM# 616294 Tags
Green Green List (high evidence)	SEMA3A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes {Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897 congenital heart disease skeletal anomalies Tags
Green Green List (high evidence)	SEPSECS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Pontocerebellar hypoplasia type 2D, MIM#613811 Tags
Green Green List (high evidence)	SERPINH1	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Osteogenesis imperfecta type 10, MONDO:0013459 Osteogenesis imperfecta, type X, OMIM:613848 Tags
Green Green List (high evidence)	SETBP1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Schinzel-Giedion midface retraction syndrome, MIM# 269150 Tags
Green Green List (high evidence)	SETD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Luscan-Lumish syndrome, MIM#616831 Tags
Green Green List (high evidence)	SETD5	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Intellectual disability, autosomal dominant 23 (MIM # 615761) Tags
Green Green List (high evidence)	SF3B2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Craniofacial microsomia, MIM#164210 Tags
Green Green List (high evidence)	SF3B4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Acrofacial dysostosis 1, Nager type, MIM# 154400 Tags
Green Green List (high evidence)	SGPL1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Sphingosine Phosphate Lyase Insufficiency Syndrome Nephrotic syndrome, type 14, MIM#617575 Tags
Green Green List (high evidence)	SH3PXD2B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Frank-ter Haar syndrome, MIM#249420 Tags
Green Green List (high evidence)	SHH	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes 1. Holoprosencephaly 3 (MIM#142945), AD 2. Microphthalmia with coloboma 5 (MIM#611638), AD 3. Schizencephaly (MIM#269160) 4. Single median maxillary central incisor (MIM#147250) AD Tags
Green Green List (high evidence)	SHMT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Polymicrogyria corpus callosum anomalies Microcephaly Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities - #619121 Tags
Green Green List (high evidence)	SHOC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Noonan syndrome-like with loose anagen hair 1, MIM# 607721 Tags
Green Green List (high evidence)	SHOX	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Leri-Weill dyschondrosteosis, MIM# 127300 Langer mesomelic dysplasia, MIM#249700 Tags SV/CNV
Green Green List (high evidence)	SHROOM4	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Stocco dos Santos X-linked mental retardation syndrome, 300434 Tags
Green Green List (high evidence)	SIL1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Marinesco-Sjogren syndrome, 248800 Tags
Green Green List (high evidence)	SIN3A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Witteveen-Kolk syndrome, MIM # 613406 Tags
Green Green List (high evidence)	SIX3	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Holoprosencephaly 2, MIM# 157170 Schizencephaly (MIM#269160) Tags
Green Green List (high evidence)	SKI	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Shprintzen-Goldberg syndrome, MIM#182212 Tags
Green Green List (high evidence)	SKIV2L	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Trichohepatoenteric syndrome 2, MIM#614602 Tags
Green Green List (high evidence)	SLC10A7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, MIM# 618363 Tags
Green Green List (high evidence)	SLC12A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Bartter syndrome, type 1, MIM#601678 Tags
Green Green List (high evidence)	SLC12A6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Agenesis of the corpus callosum with peripheral neuropathy, MIM#218000 Tags
Green Green List (high evidence)	SLC13A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905 MONDO:0014392 Tags
Green Green List (high evidence)	SLC17A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Sialic acid storage disorder, infantile, MIM#269920 MONDO:0010027 Tags
Green Green List (high evidence)	SLC20A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Bladder-Exstrophy-Epispadias Complex (BEEC), MONDO:0017919, SLC20A1-related Tags
Green Green List (high evidence)	SLC25A24	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Fontaine progeroid syndrome, MIM#612289 Tags
Green Green List (high evidence)	SLC25A4	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184 Tags
Green Green List (high evidence)	SLC26A2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Achondrogenesis 1B, MIM#600972 Atelosteogenesis, type II, MIM#256050 Diastrophic dysplasia, MIM#222600 Epiphyseal dysplasia, multiple, 4, MIM#226900 Tags
Green Green List (high evidence)	SLC26A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Diarrhea 1, secretory chloride, congenital, MIM#214700 Tags
Green Green List (high evidence)	SLC27A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Ichthyosis prematurity syndrome, MIM#608649 Tags
Green Green List (high evidence)	SLC29A3	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Green Genomics England PanelApp Phenotypes H syndrome, MONDO:0011273 Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782 Tags
Green Green List (high evidence)	SLC2A10	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Arterial tortuosity syndrome, MIM# 208050 Tags
Green Green List (high evidence)	SLC33A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482 Tags
Green Green List (high evidence)	SLC35A2	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genomics England PanelApp Phenotypes Congenital disorder of glycosylation, type IIm (MIM #300896) Tags
Green Green List (high evidence)	SLC35D1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Schneckenbecken dysplasia 269250, MONDO:0010013 O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation) Tags
Green Green List (high evidence)	SLC39A8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Congenital disorder of glycosylation, type IIn , MIM#16721 Tags
Green Green List (high evidence)	SLC5A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Thyroid dyshormonogenesis 1 - MIM#274400 Tags
Green Green List (high evidence)	SLC5A7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Congenital myasthenic syndrome 20, MONDO:0014939 Myasthenic syndrome, congenital, 20, presynaptic, OMIM:617143 Tags
Green Green List (high evidence)	SLC6A9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Glycine encephalopathy with normal serum glycine 617301 Arthrogryposis Tags
Green Green List (high evidence)	SLX4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group P, MIM# 613951 MONDO:0013499 Tags
Green Green List (high evidence)	SMAD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Loeys-Dietz syndrome 6, MIM# 619656 Congenital heart defects, multiple types, 8, with or without heterotaxy, MIM# 619657 Tags
Green Green List (high evidence)	SMAD3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes Loeys-Dietz syndrome, SMAD3 related, MIM#613795, MONDO:0018954 Tags
Green Green List (high evidence)	SMAD4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes Myhre syndrome, OMIM#139210, MONDO:0007688 Tags
Green Green List (high evidence)	SMAD6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Phenotypes Aortic valve disease 2 - MIM#614823 {Craniosynostosis 7, susceptibility to} - MIM#617439 {Radioulnar synostosis, nonsyndromic} - #179300 Tags
Green Green List (high evidence)	SMARCA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Nicolaides-Baraitser syndrome, MIM #601358 Blepharophimosis-intellectual disability syndrome Tags
Green Green List (high evidence)	SMARCA4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Coffin-Siris syndrome 4, MIM# 614609 Tags
Green Green List (high evidence)	SMARCAL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Schimke immunoosseous dysplasia (MIM#242900) Tags
Green Green List (high evidence)	SMARCB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Coffin-Siris syndrome 3, OMIM #614608 Tags
Green Green List (high evidence)	SMARCC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Corpus callosum abnormalities Aqueductal stenosis Septal agenesis Congenital hydrocephalus Tags
Green Green List (high evidence)	SMARCE1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes Coffin-Siris syndrome 5, MIM# 616938 Tags
Green Green List (high evidence)	SMC1A	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771 Cornelia de Lange syndrome 2, OMIM:300590 Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044 Cornelia de Lange syndrome 2, MONDO:0010370 Tags
Green Green List (high evidence)	SMC3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Cornelia de Lange syndrome 3, MIM# 610759 Tags
Green Green List (high evidence)	SMCHD1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Bosma arhinia microphthalmia syndrome (MIM#603457) Tags
Green Green List (high evidence)	SMG9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Heart and brain malformation syndrome, MIM# 616920 Tags
Green Green List (high evidence)	SMN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Spinal muscular atrophy 253400 Spinal muscular atrophy 271150 Spinal muscular atrophy 253550 Spinal muscular atrophy 253300 Tags SV/CNV
Green Green List (high evidence)	SMO	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Literature Phenotypes Curry-Jones syndrome, somatic mosaic, MIM#601707 Tags
Green Green List (high evidence)	SMOC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Microphthalmia with limb anomalies, MIM# 206920 Tags
Green Green List (high evidence)	SMPD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Niemann-Pick disease, type A, MIM# 257200 MONDO:0009756 Tags
Green Green List (high evidence)	SMPD4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Literature Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, MONDO:0032838 Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, OMIM:618622 Tags
Green Green List (high evidence)	SNAP29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes CEDNIK syndrome, MONDO:0012290 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528 Tags
Green Green List (high evidence)	SNORD118	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Leukoencephalopathy, brain calcifications, and cysts, MIM# 614561 Tags
Green Green List (high evidence)	SNRPB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Cerebrocostomandibular syndrome, MIM# 117650 Tags
Green Green List (high evidence)	SON	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes ZTTK syndrome, MIM# 617140 Tags
Green Green List (high evidence)	SOS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Noonan syndrome 4, MIM# 610733 Tags
Green Green List (high evidence)	SOS2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Noonan syndrome 9, 616559 Fetal hydrops Tags
Green Green List (high evidence)	SOST	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Sclerosteosis 1, OMIM#269500 Craniodiaphyseal dysplasia, OMIM#122860 Tags SV/CNV
Green Green List (high evidence)	SOX10	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes PCWH syndrome (MIM#609136) Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584) Waardenburg syndrome, type 4C (MIM#613266) Tags
Green Green List (high evidence)	SOX11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Coffin-Siris syndrome 9, OMIM # 615866 Tags
Green Green List (high evidence)	SOX18	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Hypotrichosis-lymphedema-telangiectasia syndrome, MIM# 607823 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940 Tags
Green Green List (high evidence)	SOX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Microphthalmia, syndromic 3, MIM# 206900 Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900 Tags
Green Green List (high evidence)	SOX6	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Tolchin-Le Caignec syndrome, MONDO:0033544 Tolchin-Le Caignec syndrome, OMIM:618971 Tags
Green Green List (high evidence)	SOX9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Campomelic dysplasia with autosomal sex reversal (MIM#114290) Campomelic dysplasia (MIM#114290) Acampomelic campomelic dysplasia (MIM#114290) Tags
Green Green List (high evidence)	SPAG1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 28 (MIM#615505) Tags
Green Green List (high evidence)	SPATA5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Literature Phenotypes Epilepsy, hearing loss, and mental retardation syndrome MIM#616577 Tags
Green Green List (high evidence)	SPECC1L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Opitz GBBB syndrome, type II, MIM# 145410 Autosomal dominant Opitz G/BBB syndrome, MONDO:0007779 Tags
Green Green List (high evidence)	SPEG	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Centronuclear myopathy 5, MIM# 615959 Tags
Green Green List (high evidence)	SPEN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Phenotypes Radio-Tartaglia syndrome - MIM#619312 Tags
Green Green List (high evidence)	SPINT2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Diarrhoea 3, secretory sodium, congenital, syndromic - MIM#270420 congenital secretory sodium diarrhea 3 - MONDO#0010036 Tags
Green Green List (high evidence)	SPRED2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Noonan syndrome 14, MIM# 619745 Tags
Green Green List (high evidence)	SPTA1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Spherocytosis type 3 #270970 Elliptocytosis-2 #130600 pyropoikilocytosis #266140 Tags
Green Green List (high evidence)	SRCAP	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Floating-Harbor syndrome, MIM# 136140 Tags
Green Green List (high evidence)	SRD5A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Pseudovaginal perineoscrotal hypospadias 264600 Tags
Green Green List (high evidence)	SRD5A3	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Iq, MIM# 612379 Kahrizi syndrome, MIM# 612713 Tags
Green Green List (high evidence)	SRY	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Phenotypes 46XY sex reversal 1, OMIM #400044 46XX sex reversal 1, OMIM #400045 Tags
Green Green List (high evidence)	STAC3	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Bailey-Bloch congenital myopathy, MONDO:0009722 Myopathy, congenital, Baily-Bloch, OMIM:255995 Tags
Green Green List (high evidence)	STAG2	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Genomics England PanelApp Literature Phenotypes Mullegama-Klein-Martinez syndrome, MIM# 301022 Holoprosencephaly 13, X-linked, MIM# 301043 Tags
Green Green List (high evidence)	STAMBP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Microcephaly-capillary malformation syndrome, MIM# 614261 MONDO:0013659 Tags
Green Green List (high evidence)	STAR	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Lipoid adrenal hyperplasia (MIM#201710) Tags
Green Green List (high evidence)	STAT3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Hyper-IgE recurrent infection syndrome - MIM#147060 Autoimmune disease, multisystem, infantile-onset, 1 - MIM#615952 Tags
Green Green List (high evidence)	STIL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Microcephaly 7, primary, autosomal recessive, MONDO:0012989 Microcephaly 7, primary, autosomal recessive, OMIM:612703 Tags
Green Green List (high evidence)	STIM1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Immunodeficiency 10 - #612783 Myopathy, tubular aggregate, 1 - #160565 Stormorken syndrome - #185070 Tags
Green Green List (high evidence)	STK4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations - MIM#614868 Tags
Green Green List (high evidence)	STRA6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Microphthalmia, syndromic 9, MIM# 601186 Tags
Green Green List (high evidence)	STRADA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087 Polyhydramnios, megalencephaly, and symptomatic epilepsy, MONDO:0012611 Tags
Green Green List (high evidence)	STT3A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type Iw, autosomal dominant - MIM#619714 Congenital disorder of glycosylation, type Iw, autosomal recessive - MIM#615596 Tags
Green Green List (high evidence)	SUCLG1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400 Tags
Green Green List (high evidence)	SUFU	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Basal cell nevus syndrome, MIM# 109400 Tags
Green Green List (high evidence)	SUMF1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Multiple sulfatase deficiency, MIM# 272200 Tags
Green Green List (high evidence)	SUZ12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Imagawa-Matsumoto syndrome #618786 Tags
Green Green List (high evidence)	SYNE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484 Arthrogryposis multiplex congenita 3, myogenic type, MONDO:0032778 Tags
Green Green List (high evidence)	SYT2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Myasthenic syndrome, congenital, 7, presynaptic, MIM# 616040 Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive MIM#619461 Tags
Green Green List (high evidence)	SZT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Developmental and epileptic encephalopathy 18, MIM #615476 Tags
Green Green List (high evidence)	TAB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like Congenital heart defects, nonsyndromic, 2 (MIM#614980) Tags
Green Green List (high evidence)	TAF1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Literature Phenotypes Mental retardation, X-linked, syndromic 33, MIM# 300966 Tags
Green Green List (high evidence)	TALDO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Transaldolase deficiency, 606003 Fetal hydrops Tags
Green Green List (high evidence)	TAOK1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental delay with or without intellectual impairment or behavioral abnormalities - MIM#619575 Tags
Green Green List (high evidence)	TAZ	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Barth syndrome, MIM#302060 Tags
Green Green List (high evidence)	TBC1D1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes CAKUT Tags
Green Green List (high evidence)	TBC1D20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Warburg micro syndrome 4, MIM# 615663 Tags
Green Green List (high evidence)	TBC1D24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes DOORS syndrome MIM#220500 Tags
Green Green List (high evidence)	TBC1D32	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Orofacial digital syndrome type IX Tags
Green Green List (high evidence)	TBCD	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Genetic Health Queensland Genomics England PanelApp Literature Victorian Clinical Genetics Services Phenotypes Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, MONDO:0044646 Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, OMIM:617193 Tags
Green Green List (high evidence)	TBCE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410 Kenny-Caffey syndrome, type 1, OMIM #244460 Encephalopathy, progressive, with amyotrophy and optic atrophy OMIM #617207 Tags
Green Green List (high evidence)	TBCK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900 Tags
Green Green List (high evidence)	TBX1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes DiGeorge syndrome, MIM# 188400 Tags
Green Green List (high evidence)	TBX15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Cousin syndrome, MIM# 260660 Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature Tags
Green Green List (high evidence)	TBX18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Congenital anomalies of kidney and urinary tract 2, MIM# 143400 Tags
Green Green List (high evidence)	TBX20	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Atrial septal defect 4, MIM# 611363 Tags
Green Green List (high evidence)	TBX22	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Cleft palate with ankyloglossia, MIM# 303400 Abruzzo-Erickson syndrome, MIM# 302905 Tags
Green Green List (high evidence)	TBX3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Ulnar-mammary syndrome, MIM# 181450 MONDO:0008411 Tags
Green Green List (high evidence)	TBX4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, MIM# 601360 Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, MIM# 147891 Tags
Green Green List (high evidence)	TBX5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Holt-Oram syndrome, MIM# 142900 Tags
Green Green List (high evidence)	TBX6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Spondylocostal dysostosis 5 , MIM#122600 Tags
Green Green List (high evidence)	TCF12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Craniosynostosis 3, MIM# 615314 Tags
Green Green List (high evidence)	TCF4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Pitt-Hopkins syndrome, MIM# 610954 Tags
Green Green List (high evidence)	TCIRG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Osteopetrosis, infantile malignant 259700 Tags
Green Green List (high evidence)	TCOF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Treacher Collins syndrome 1, MIM# 154500 Tags
Green Green List (high evidence)	TCTEX1D2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565 JATD Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405 Tags
Green Green List (high evidence)	TCTN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Joubert syndrome 13, MIM# 614173 Tags
Green Green List (high evidence)	TCTN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Joubert syndrome 24, MIM# 616654 MONDO:0014724 Meckel syndrome 8, MIM# 613885 MONDO:0013482 Tags
Green Green List (high evidence)	TCTN3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Joubert syndrome 18, OMIM #614815 Orofaciodigital syndrome IV, OMIM #258860 Tags
Green Green List (high evidence)	TELO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes TELO2-related intellectual disability-neurodevelopmental disorder, MONDO:0014848 You-Hoover-Fong syndrome, OMIM:616954 Tags
Green Green List (high evidence)	TENM3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Microphthalmia, isolated, with coloboma 9, MONDO:0014059 Microphthalmia, syndromic 15, MIM#615145 coloboma Tags
Green Green List (high evidence)	TFAP2A	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Branchiooculofacial syndrome, MIM# 113620 Tags
Green Green List (high evidence)	TFAP2B	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Char syndrome, MIM# 169100 Syndromic craniosynostosis Tags
Green Green List (high evidence)	TG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Thyroid dyshormonogenesis 3 - MIM#274700 Tags
Green Green List (high evidence)	TGDS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Catel-Manzke syndrome, MIM# 616145 Tags
Green Green List (high evidence)	TGFB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Loeys-Dietz syndrome 4, MIM# 614816 Tags
Green Green List (high evidence)	TGFB3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Loeys-Dietz syndrome 5, MIM# 615582 Tags
Green Green List (high evidence)	TGFBR1	3 reviews 2 green 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Loeys-Dietz syndrome 1, MIM# 609192 Tags
Green Green List (high evidence)	TGFBR2	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Loeys-Dietz syndrome 2, MIM# 610168 Tags
Green Green List (high evidence)	TGIF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Holoprosencephaly 4, MIM# 142946 MONDO:0007734 Tags
Green Green List (high evidence)	THOC2	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Phenotypes Mental retardation, X-linked 12/35 MIM#300957 Arthrogryposis (MONDO:0008779), THOC2-related Tags
Green Green List (high evidence)	THOC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Beaulieu-Boycott-Innes syndrome, MIM# 613680 Tags
Green Green List (high evidence)	THRA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450 Tags
Green Green List (high evidence)	THSD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Lymphatic malformation 13, MIM# 620244 Tags
Green Green List (high evidence)	TINF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Revesz syndrome, MIM# 268130 Tags
Green Green List (high evidence)	TLK2	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal dominant 57 - MIM#618050 Tags
Green Green List (high evidence)	TLL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Phenotypes Atrial septal defect 6 - MIM#613087 congenital heart disease Tags
Green Green List (high evidence)	TMCO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, MIM# 213980 Tags
Green Green List (high evidence)	TMEM107	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Phenotypes Joubert syndrome 29, OMIM:617562 Orofaciodigital syndrome 16, MONDO:0033045 Meckel syndrome 13, MONDO:0033044 Orofaciodigital syndrome XVI, OMIM:617563 Meckel syndrome 13, OMIM:617562 Tags
Green Green List (high evidence)	TMEM138	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Joubert syndrome 16, MIM# 614465 MONDO:0013764 Tags
Green Green List (high evidence)	TMEM165	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Congenital disorder of glycosylation, type IIk, MIM# 614727 TMEM165-CDG, MONDO:0013870 Tags
Green Green List (high evidence)	TMEM216	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Joubert syndrome 2, MIM# 608091 Meckel syndrome 2, OMIM:603194 Meckel syndrome, type 2, MONDO:0011296 Tags
Green Green List (high evidence)	TMEM218	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome 39 - MIM#619562 Tags
Green Green List (high evidence)	TMEM231	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Joubert syndrome 20, MIM# 614970 MONDO:0013994 Meckel syndrome 11, MIM# 615397 MONDO:0014164 Tags
Green Green List (high evidence)	TMEM237	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Joubert syndrome 14, MIM# 614424 Tags
Green Green List (high evidence)	TMEM260	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Structural heart defects and renal anomalies syndrome, OMIM:617478 Structural heart defects and renal anomalies syndrome, MONDO:0044321 Tags
Green Green List (high evidence)	TMEM38B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Osteogenesis imperfecta, type XIV, OMIM:615066 Osteogenesis imperfecta type 14, MONDO:0014029 Tags
Green Green List (high evidence)	TMEM5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041, MONDO:0014022 Tags
Green Green List (high evidence)	TMEM67	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Joubert syndrome 6, MIM# 610688 Meckel syndrome 3, MIM# 607361 Tags
Green Green List (high evidence)	TMEM94	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Intellectual developmental disorder with cardiac defects and dysmorphic facies, OMIM:618316 Tags
Green Green List (high evidence)	TMEM98	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Nanophthalmos 4, MONDO:0014426 Nanophthalmos 4, OMIM:615972 Tags
Green Green List (high evidence)	TMTC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Lissencephaly 8 (MIM#617255) Tags
Green Green List (high evidence)	TMX2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887 Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730 Tags
Green Green List (high evidence)	TNFRSF11A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Osteopetrosis, autosomal recessive 7 - MIM# 612301 Tags
Green Green List (high evidence)	TNNI2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Arthrogryposis multiplex congenita, distal, type 2B MIM#601680 Tags
Green Green List (high evidence)	TNNT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Nemaline myopathy 5, Amish type, MIM# 605355 Tags
Green Green List (high evidence)	TNNT3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Arthrogryposis, distal, type 2B2, OMIM:618435 Arthrogryposis, distal, type 2B2, MONDO:0032750 Tags
Green Green List (high evidence)	TOE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Pontocerebellar hypoplasia, type 7, OMIM:614969 Pontocerebellar hypoplasia type 7, MONDO:0013993 Tags
Green Green List (high evidence)	TOP2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296 Tags
Green Green List (high evidence)	TOP3A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097 Tags
Green Green List (high evidence)	TOR1A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Arthrogryposis multiplex congenita 5, OMIM:618947 Arthrogryposis multiplex congenita 5, MONDO:0100218 Tags
Green Green List (high evidence)	TOR1AIP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures - #61707 congenital myasthenic syndrome Tags
Green Green List (high evidence)	TP63	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes ADULT syndrome, OMIM #103285 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM #604292 Hay-Wells syndrome, OMIM #106260 Limb-mammary syndrome, OMIM #603543 Orofacial cleft 8, OMIM #618149 Rapp-Hodgkin syndrome, OMIM #129400 Split-hand/foot malformation 4, OMIM #605289 Tags
Green Green List (high evidence)	TP73	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ciliary dyskinesia, primary, 47, and lissencephaly - MIM# 619466 Tags
Green Green List (high evidence)	TPM2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Arthrogryposis multiplex congenita, distal, type 1, 108120 Arthrogryposis, distal, type 2B, 601680 Multiple pterygium syndrome Tags
Green Green List (high evidence)	TPM3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Myopathy, congenital, with fiber-type disproportion, MIM# 255310 Tags
Green Green List (high evidence)	TPO	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Thyroid dyshormonogenesis 2A - MIM#274500 Tags
Green Green List (high evidence)	TRAF3IP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Phenotypes Senior-Loken syndrome 9, MIM# 616629 MONDO:0014712 Tags
Green Green List (high evidence)	TRAF7	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Expert Review Green Genomics England PanelApp Phenotypes Cardiac, facial, and digital anomalies with developmental delay, MIM# 618164 Tags
Green Green List (high evidence)	TRAIP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Seckel syndrome 9, MIM#616777 Tags
Green Green List (high evidence)	TRAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes VACTERL CAKUT Tags
Green Green List (high evidence)	TRAPPC11	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Literature Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 18 MIM# 615356 Tags
Green Green List (high evidence)	TRAPPC12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Hydrocephaly Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696 Tags
Green Green List (high evidence)	TRAPPC9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Intellectual disability, autosomal recessive 13 (MIM# 613192) Tags
Green Green List (high evidence)	TREX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750 Tags
Green Green List (high evidence)	TRIM37	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Mulibrey nanism, OMIM #253250 Tags
Green Green List (high evidence)	TRIM71	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Phenotypes Hydrocephalus, congenital communicating, 1 - #618667 Tags
Green Green List (high evidence)	TRIO	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Mental retardation, autosomal dominant 44, MIM# 617061 Tags
Green Green List (high evidence)	TRIP11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Achondrogenesis, type IA, MIM# 200600 Tags
Green Green List (high evidence)	TRIP4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866 Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806 Tags
Green Green List (high evidence)	TRIT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 35, MIM#617873 Tags
Green Green List (high evidence)	TRMT10A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033 MONDO:0000208 Tags
Green Green List (high evidence)	TRPV4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Brachyolmia type 3, MIM# 113500 Metatropic dysplasia, MIM# 156530 SED, Maroteaux type, MIM# 184095 Spondylometaphyseal dysplasia, Kozlowski type, MIM# 184252 Tags
Green Green List (high evidence)	TRPV6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Hyperparathyroidism, transient neonatal, MIM#618188 Tags
Green Green List (high evidence)	TRRAP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental delay with or without dysmorphic facies and autism- #618454 multiple congenital anomalies Tags
Green Green List (high evidence)	TSC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Tuberous sclerosis-1, MIM# 191100 Tags
Green Green List (high evidence)	TSC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Tuberous sclerosis-2, MIM# 613254 Tags
Green Green List (high evidence)	TSEN15	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Literature Phenotypes Pontocerebellar hypoplasia, type 2F MIM#617026 Tags
Green Green List (high evidence)	TSEN2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Pontocerebellar hypoplasia type 2B (MIM#612389) Tags
Green Green List (high evidence)	TSEN54	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Pontocerebellar hypoplasia type 5, OMIM:610204 Pontocerebellar hypoplasia type 4, OMIM:225753 Pontocerebellar hypoplasia type 2A, OMIM:277470 Tags
Green Green List (high evidence)	TSFM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Combined oxidative phosphorylation deficiency 3, MIM#610505 Tags
Green Green List (high evidence)	TSHR	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hyperthyroidism, nonautoimmune - MIM#609152 Hypothyroidism, congenital, nongoitrous, 1 - MIM#275200 Tags
Green Green List (high evidence)	TTC21B	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Phenotypes Nephronophthisis 12, MIM# 613820 Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819 Tags
Green Green List (high evidence)	TTC25	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 35 (MIM#617092) Tags new gene name
Green Green List (high evidence)	TTC7A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Gastrointestinal defects and immunodeficiency syndrome, MIM# 243150 Tags
Green Green List (high evidence)	TTC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 8, MIM# 615985 Tags
Green Green List (high evidence)	TTI2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Mental retardation, autosomal recessive 39 (MIM#615541) Microcephaly Tags
Green Green List (high evidence)	TTN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Salih myopathy Muscular dystrophy, limb-girdle, autosomal recessive 10 Tags
Green Green List (high evidence)	TUBA1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Lissencephaly 3, MIM# 611603 Tags
Green Green List (high evidence)	TUBB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Cortical dysplasia, complex, with other brain malformations 6, MIM#615771 Tags
Green Green List (high evidence)	TUBB2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763 Complex cortical dysplasia with other brain malformations 5, MONDO:0014337 Tags
Green Green List (high evidence)	TUBB2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes Cortical dysplasia, complex, with other brain malformations 7 MIM#610031 Tags
Green Green List (high evidence)	TUBB3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Cortical dysplasia, complex, with other brain malformations 1, OMIM # 614039 Tags
Green Green List (high evidence)	TUBB4A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes Leukodystrophy, hypomyelinating, 6, MIM# 602662 Tags
Green Green List (high evidence)	TUBG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Cortical dysplasia, complex, with other brain malformations 4, OMIM #615412 Tags
Green Green List (high evidence)	TUBGCP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM # 618737 Tags
Green Green List (high evidence)	TUBGCP4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Literature Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, MIM#616335 Tags
Green Green List (high evidence)	TUBGCP6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM#251270 Tags
Green Green List (high evidence)	TUFM	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Combined oxidative phosphorylation deficiency 4, MIM #610678 Tags
Green Green List (high evidence)	TWIST1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes Craniosynostosis 1, MIM# 123100 Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400 Sweeny-Cox syndrome, MIM# 617746 Robinow-Sorauf syndrome, MIM# 180750 Tags 5'UTR SV/CNV
Green Green List (high evidence)	TWIST2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Ablepharon-macrostomia syndrome, 200110 Barber-Say syndrome, 209885 Tags
Green Green List (high evidence)	TXNDC15	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Phenotypes Meckel syndrome 14, MIM# 619879 Tags
Green Green List (high evidence)	TXNL4A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Burn-McKeown syndrome, MIM# 608572 Tags 5'UTR SV/CNV
Green Green List (high evidence)	UBA1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830 Tags
Green Green List (high evidence)	UBA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes ACCES syndrome, MIM# 619959 Split-Hand/Foot Malformation Aplasia Cutis Congenita Ectrodactyly Tags
Green Green List (high evidence)	UBE2T	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Fanconi anaemia, complementation group T, MIM# 616435 Tags SV/CNV
Green Green List (high evidence)	UBE3B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Kaufman oculocerebrofacial syndrome, MIM# 244450 MONDO:0009485 Tags
Green Green List (high evidence)	UBR1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Johanson-Blizzard syndrome (MIM#243800) Tags
Green Green List (high evidence)	UBR7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Li-Campeau syndrome - MIM#619189 Tags
Green Green List (high evidence)	UMPS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Orotic aciduria MIM# 258900 Tags
Green Green List (high evidence)	UQCC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial complex III deficiency, nuclear type 7 - MIM#615824 Tags
Green Green List (high evidence)	UROS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Porphyria, congenital erythropoietic - MIM#263700 hydrops fetalis multiple congenital anomalies Tags
Green Green List (high evidence)	USP14	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Syndromic disease MONDO:0002254, USP14-related Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features Tags
Green Green List (high evidence)	USP18	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Pseudo-TORCH syndrome 2, MIM#617397 Tags
Green Green List (high evidence)	USP9X	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genomics England PanelApp Phenotypes Mental retardation, X-linked 99, XLR (MIM#300919) and XLD (MIM#300968) Tags
Green Green List (high evidence)	VAMP1	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Myasthenic syndrome, congenital, 25, MIM# 618323 Tags
Green Green List (high evidence)	VIPAS39	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM #613404 Tags
Green Green List (high evidence)	VLDLR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM# 224050 Tags
Green Green List (high evidence)	VPS33B	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085) Tags
Green Green List (high evidence)	VPS4A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes CIMDAG syndrome MIM# 619273 Tags
Green Green List (high evidence)	VPS53	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Pontocerebellar hypoplasia, type 2E, OMIM #615851 Tags founder
Green Green List (high evidence)	VRK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Pontocerebellar hypoplasia type 1A MIM#607596 Tags
Green Green List (high evidence)	VSX2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Microphthalmia with coloboma 3, MIM# 610092 Microphthalmia, isolated 2, MIM# 610093 Tags
Green Green List (high evidence)	WASHC5	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Ritscher-Schinzel syndrome 1, MIM# 220210 Tags founder
Green Green List (high evidence)	WBP11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Vertebral, cardiac, tracheoesophageal, renal, and limb defects, #MIM:619227 Tags
Green Green List (high evidence)	WBP4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, WBP4-related Tags
Green Green List (high evidence)	WDPCP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Phenotypes Bardet-Biedl syndrome 15, MIM# 615992 OFD Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 Tags
Green Green List (high evidence)	WDR19	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Nephronophthisis 13, MIM# 614377 Senior-Loken syndrome 8, MIM# 616307 Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376 Cranioectodermal dysplasia 4, MIM# 614378 Tags
Green Green List (high evidence)	WDR34	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, MIM# 615633 Tags
Green Green List (high evidence)	WDR35	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091 MONDO:0013569 Tags
Green Green List (high evidence)	WDR37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Neurooculocardiogenitourinary syndrome MIM#618652 Tags
Green Green List (high evidence)	WDR4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Microcephaly, growth deficiency, seizures, and brain malformations, OMIM # 618346 Tags
Green Green List (high evidence)	WDR44	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Ciliopathy, MONDO:0005308, WDR44-related Tags
Green Green List (high evidence)	WDR60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503 Tags
Green Green List (high evidence)	WDR62	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317 MONDO:0011435 Tags
Green Green List (high evidence)	WDR73	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Galloway-Mowat syndrome 1, MIM#251300 Tags
Green Green List (high evidence)	WLS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Zaki syndrome, MIM#619648 Tags
Green Green List (high evidence)	WNT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type XV, OMIM:615220 Tags
Green Green List (high evidence)	WNT10B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Split-hand/foot malformation 6, OMIM:225300 Tags
Green Green List (high evidence)	WNT5A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Robinow syndrome, autosomal dominant 1 OMIM# 180700 Tags
Green Green List (high evidence)	WNT7A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Fuhrmann syndrome, MIM# 228930 Ulna and fibula, absence of, with severe limb deficiency, MIM# 276820 Tags
Green Green List (high evidence)	WNT7B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia and Cardiac defects syndrome Multiple congenital anomalies/dysmorphic features syndrome MONDO:0043005, WNT7B-related Tags
Green Green List (high evidence)	WT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Denys-Drash syndrome, MIM# 194080 Frasier syndrome, MIM#136680 Tags
Green Green List (high evidence)	WWOX	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Developmental and epileptic encephalopathy 28, MIM# 616211 Tags SV/CNV
Green Green List (high evidence)	XRCC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Short stature, microcephaly, and endocrine dysfunction, MIM#616541 Tags
Green Green List (high evidence)	XYLT1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Desbuquois dysplasia 2, MIM# 615777 Baratela-Scott syndrome Tags
Green Green List (high evidence)	XYLT2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Literature Phenotypes Spondyloocular syndrome MIM# 605822 Tags
Green Green List (high evidence)	YAP1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, MIM#120433 Tags
Green Green List (high evidence)	YIF1B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Kaya-Barakat-Masson syndrome, MIM# 619125 Tags
Green Green List (high evidence)	YIPF5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278 Tags
Green Green List (high evidence)	YRDC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Galloway-Mowat syndrome 10, OMIM # 619609 Tags
Green Green List (high evidence)	YY1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Gabriele-de Vries syndrome, OMIM #617557 Tags
Green Green List (high evidence)	ZBTB18	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Mental retardation, autosomal dominant 22, MIM# 612337 Intellectual disability microcephaly corpus callosum abnormalities Tags
Green Green List (high evidence)	ZBTB20	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Primrose syndrome, MIM# 259050 Tags
Green Green List (high evidence)	ZBTB24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 2 - MIM#614069 Tags
Green Green List (high evidence)	ZC4H2	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Wieacker-Wolff syndrome, OMIM#314580 Wieacker-Wolff syndrome, female-restricted, OMIM#301041 Tags
Green Green List (high evidence)	ZEB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Mowat-Wilson syndrome, MIM# 235730 MONDO:0009341 Tags
Green Green List (high evidence)	ZFP57	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Diabetes mellitus, transient neonatal 1, OMIM #601410 Tags
Green Green List (high evidence)	ZFPM2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Phenotypes Diaphragmatic hernia 3 - MIM#610187 Tetralogy of Fallot - MIM# 187500 Tags
Green Green List (high evidence)	ZIC1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Structural brain anomalies with impaired intellectual development and craniosynostosis OMIM#618736 Tags
Green Green List (high evidence)	ZIC2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Holoprosencephaly 5, OMIM #609637 MONDO:0012322 Tags
Green Green List (high evidence)	ZIC3	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Expert Review Green Genomics England PanelApp Phenotypes Congenital heart defects, nonsyndromic, 1, X-linked, MIM#306955 Heterotaxy, visceral, 1, X-linked, MIM#306955 VACTERL association, X-linked, MIM#314390 Tags
Green Green List (high evidence)	ZMIZ1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Phenotypes Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies - MIM#618659 Tags
Green Green List (high evidence)	ZMPSTE24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612 MONDO:0012074 Restrictive dermopathy, lethal, MIM# 275210 MONDO:0010143 Tags
Green Green List (high evidence)	ZMYM2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Phenotypes Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities - MIM#619522 Tags
Green Green List (high evidence)	ZMYND10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 22, MIM#615444 Tags
Green Green List (high evidence)	ZMYND8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Neurodevelopmental disorder, MONDO:0700092, ZMYND8-related Delayed speech and language development Motor delay Intellectual disability Abnormality of cardiovascular system morphology Hearing abnormality Abnormality of vision Abnormality of the face Seizures Tags
Green Green List (high evidence)	ZNF335	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Microcephaly 10, primary, autosomal recessive (MIM#615095) Tags
Green Green List (high evidence)	ZNF462	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Weiss-Kruszka syndrome OMIM#618619 Tags
Green Green List (high evidence)	ZNF526	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Dentici-Novelli neurodevelopmental syndrome, MIM# 619877 Tags
Green Green List (high evidence)	ZNF699	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes DEGCAGS syndrome - #619488 Tags
Green Green List (high evidence)	ZNHIT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes PEHO syndrome, MIM# 260565 Tags
Green Green List (high evidence)	ZRSR2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Orofacialdigital syndrome MONDO:0015375, ZRSR2-related Tags
Green Green List (high evidence)	ZSWIM6	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Genomics England PanelApp Phenotypes Acromelic frontonasal dysostosis (MIM#603671) Tags
Amber Amber List (moderate evidence)	ABCD4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Genomics England PanelApp Phenotypes Methylmalonic aciduria and homocystinuria, cblJ type, MIM# 614857 Tags
Amber Amber List (moderate evidence)	ABHD5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Chanarin-Dorfman syndrome, MIM# 275630 Tags
Amber Amber List (moderate evidence)	ACO2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Infantile cerebellar-retinal degeneration, MIM# 614559 Tags
Amber Amber List (moderate evidence)	ADARB1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, MIM#618862 Tags
Amber Amber List (moderate evidence)	AGRN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Literature Phenotypes Fetal akinesia deformation sequence (FADS) Tags
Amber Amber List (moderate evidence)	AHCY	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Genetic Health Queensland Genomics England PanelApp Phenotypes S-adenosylhomocysteine hydrolase deficiency Fetal hydrops Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752 Tags
Amber Amber List (moderate evidence)	AIFM1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Genomics England PanelApp Phenotypes Combined oxidative phosphorylation deficiency 6, MIM# 300816 Cowchock syndrome, MIM# 310490 Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, MIM# 300232 Tags
Amber Amber List (moderate evidence)	ALG11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Genomics England PanelApp Phenotypes Congenital disorder of glycosylation, type Ip, MIM# 613661 Tags
Amber Amber List (moderate evidence)	ALG13	3 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Genetic Health Queensland Genomics England PanelApp Phenotypes Congenital disorder of glycosylation, type Is (MIM# 300884) Developmental and epileptic encephalopathy. Tags
Amber Amber List (moderate evidence)	AP3B2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Genomics England PanelApp Phenotypes Developmental and epileptic encephalopathy 48, MIM# 617276 Tags
Amber Amber List (moderate evidence)	ASPH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Traboulsi syndrome, OMIM:601552 Tags
Amber Amber List (moderate evidence)	ASTN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Polymicrogyria hypoplastic corpus callosum Tags
Amber Amber List (moderate evidence)	ASXL3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genomics England PanelApp Phenotypes Bainbridge-Ropers syndrome (OMIM # 615485) Tags
Amber Amber List (moderate evidence)	ATP11A	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Leukodystrophy, hypomyelinating, 24 , MIM# 619851 Tags
Amber Amber List (moderate evidence)	ATP9A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with poor growth and behavioural abnormalities, MIM# 620242 Tags
Amber Amber List (moderate evidence)	ATXN2L	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes macrocephaly intellectual disability Tags
Amber Amber List (moderate evidence)	B3GNT2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Walker-Warburg syndrome Tags
Amber Amber List (moderate evidence)	BCL9L	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Genomics England PanelApp Literature Other Phenotypes Heterotaxy Congenital Heart Disease Tags
Amber Amber List (moderate evidence)	BCORL1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Amber Phenotypes Congenital anomaly of the kidney and urinary tract, MONDO:0019719, BCORL1-related Tags
Amber Amber List (moderate evidence)	BMP3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes coloboma, MONDO:0001476 microphthalmia, MONDO:0021129 Tags
Amber Amber List (moderate evidence)	BOLA3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299 Tags
Amber Amber List (moderate evidence)	BPTF	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Genomics England PanelApp Phenotypes Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies AD, MIM#617755 Tags
Amber Amber List (moderate evidence)	BRWD3	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Genomics England PanelApp Phenotypes Intellectual developmental disorder, X-linked 93, MIM# 300659 Tags
Amber Amber List (moderate evidence)	C7orf43	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Microcephaly 25, primary, autosomal recessive, MIM# 618351 Tags new gene name
Amber Amber List (moderate evidence)	C8orf37	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Genomics England PanelApp Phenotypes Bardet-Biedl syndrome 21, MIM#617406 Tags
Amber Amber List (moderate evidence)	CACNA1G	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Genomics England PanelApp Phenotypes Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087 Tags
Amber Amber List (moderate evidence)	CAMK2B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Genetic Health Queensland Genomics England PanelApp Literature Phenotypes Mental retardation, autosomal dominant 54, MIM# 617799 Tags
Amber Amber List (moderate evidence)	CCDC28B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Joubert syndrome, MONDO:0018772 Tags
Amber Amber List (moderate evidence)	CCDC88A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes PEHO syndrome-like (MIM#617507) Tags
Amber Amber List (moderate evidence)	CDK5	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Lissencephaly 7 with cerebellar hypoplasia (MIM#616342) Tags
Amber Amber List (moderate evidence)	CDK6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Microcephaly 12, primary, autosomal recessive, MIM#616080 Tags
Amber Amber List (moderate evidence)	CEP63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Genomics England PanelApp Phenotypes Seckel syndrome 6, OMIM:614728 Seckel syndrome 6, MONDO:0013871 Tags
Amber Amber List (moderate evidence)	CHD3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Genomics England PanelApp Phenotypes Snijders Blok-Campeau syndrome, MIM#618205 Tags
Amber Amber List (moderate evidence)	CHD8	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genomics England PanelApp Phenotypes {Autism, susceptibility to, 18} 615032 CHD8-related neurodevelopmental syndrome Tags
Amber Amber List (moderate evidence)	CHST11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Osteochondrodysplasia, brachydactyly, and overlapping malformed digits, MIM# 618167 Tags
Amber Amber List (moderate evidence)	CHUK	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Popliteal pterygium syndrome, Bartsocas-Papas type 2, MIM# 619339 Cocoon syndrome, MIM# 613630 AEC-like syndrome Tags
Amber Amber List (moderate evidence)	CLPP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Genomics England PanelApp Phenotypes Perrault syndrome 3, MIM# 614129 Tags
Amber Amber List (moderate evidence)	CNOT1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Genomics England PanelApp Literature Phenotypes Holoprosencephaly 12, with or without pancreatic agenesis, 618500 Vissers-Bodmer syndrome, MIM#619033 Tags
Amber Amber List (moderate evidence)	CNTN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Myopathy, congenital, Compton-North, OMIM:612540 Tags
Amber Amber List (moderate evidence)	COX10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Genomics England PanelApp Phenotypes Mitochondrial complex IV deficiency, nuclear type 3, MIM# 619046 Tags
Amber Amber List (moderate evidence)	COX15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119 Tags
Amber Amber List (moderate evidence)	CRELD1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Genomics England PanelApp Phenotypes Atrioventricular septal defect, partial, with heterotaxy syndrome 606217 Tags
Amber Amber List (moderate evidence)	CYB5R3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Methaemoglobinemia, type II, MIM# 250800 Tags
Amber Amber List (moderate evidence)	DAG1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Literature Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MIM#616538) Tags
Amber Amber List (moderate evidence)	DBR1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Ichthyosis (MONDO#0019269), DBR1-related Tags founder
Amber Amber List (moderate evidence)	DCAF15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes Cornelia de Lange syndrome, MONDO:0016033, DCAF15-related Tags
Amber Amber List (moderate evidence)	DCDC2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Phenotypes Nephronophthisis 19, MIM# 616217 Tags
Amber Amber List (moderate evidence)	DHTKD1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes 2-aminoadipic 2-oxoadipic aciduria MIM#204750 Disorders of histidine, tryptophan or lysine metabolism Tags
Amber Amber List (moderate evidence)	DNAH1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Situs inversus primary ciliary dyskinesia, MIM#617577 infertility, MIM#617576 Tags
Amber Amber List (moderate evidence)	DNAH6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Heterotaxy Tags
Amber Amber List (moderate evidence)	DNAL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 16, MIM# 614017 Tags
Amber Amber List (moderate evidence)	DOLK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Genomics England PanelApp Phenotypes DK1-CDG, MONDO:0012556 Congenital disorder of glycosylation, type Im, MIM# 610768 Tags
Amber Amber List (moderate evidence)	DSG1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508) Tags
Amber Amber List (moderate evidence)	DZIP1L	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Polycystic kidney disease 5, 617610 Tags
Amber Amber List (moderate evidence)	EDN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Auriculocondylar syndrome 3, MIM# 615706 Tags
Amber Amber List (moderate evidence)	EFNA4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Craniosynostosis Tags
Amber Amber List (moderate evidence)	EIF2B3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Genomics England PanelApp Phenotypes Leukoencephalopathy with vanishing white matter, MIM#603896 Tags
Amber Amber List (moderate evidence)	EMG1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Genomics England PanelApp Phenotypes Bowen-Conradi syndrome, MIM#211180 Tags founder
Amber Amber List (moderate evidence)	EMX2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Genomics England PanelApp Phenotypes Schizencephaly, MIM# 269160 Tags disputed
Amber Amber List (moderate evidence)	ENPP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Arterial calcification, generalized, of infancy, 1, MIM3 208000 Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312 Tags
Amber Amber List (moderate evidence)	ERCC6L2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Bone marrow failure syndrome 2, MIM# 615715 Tags
Amber Amber List (moderate evidence)	ESRP2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Cleft lip Tags
Amber Amber List (moderate evidence)	FAM92A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Polydactyly, postaxial, type A9 - MIM#618219 Tags
Amber Amber List (moderate evidence)	FGF20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Renal hypodysplasia/aplasia 2, MIM#615721 Tags
Amber Amber List (moderate evidence)	FIBP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Thauvin-Robinet-Faivre syndrome - MIM#617107 Tags
Amber Amber List (moderate evidence)	FKBP8	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genomics England PanelApp Phenotypes Spina bifida, MONDO:0008449 Tags
Amber Amber List (moderate evidence)	FMN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes oligosyndactyly radioulnar synostosis hearing loss renal defects Tags
Amber Amber List (moderate evidence)	FN1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genomics England PanelApp Phenotypes Spondylometaphyseal dysplasia, corner fracture type (MIM#184255) Tags
Amber Amber List (moderate evidence)	FOXH1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Literature Phenotypes Congenital heart disease holoprosencephaly Tags
Amber Amber List (moderate evidence)	FOXP4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genomics England PanelApp Literature Phenotypes multiple congenital abnormalities Neurodevelopmental disorder Tags
Amber Amber List (moderate evidence)	FRMD4A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Genomics England PanelApp Phenotypes Intellectual disability microcephaly Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, MIM# 616819 Tags
Amber Amber List (moderate evidence)	FZD5	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Genomics England PanelApp Literature Phenotypes Microphthalmia/coloboma 11, MIM# 620731 Tags
Amber Amber List (moderate evidence)	GALNT2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Literature Phenotypes Congenital disorder of glycosylation, type IIt OMIM:618885 Tags
Amber Amber List (moderate evidence)	GATA2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Genomics England PanelApp Phenotypes Emberger syndrome, MIM# 614038 Tags
Amber Amber List (moderate evidence)	GATA5	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Literature Phenotypes Congenital heart defects, multiple types, 5 - MIM#617912 Tags
Amber Amber List (moderate evidence)	GATAD2A	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, GATAD2A-related Tags
Amber Amber List (moderate evidence)	GATAD2B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genomics England PanelApp Phenotypes GAND syndrome, MIM# 615074 Tags
Amber Amber List (moderate evidence)	GLDC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Glycine encephalopathy (MIM#605899) Tags
Amber Amber List (moderate evidence)	GLIS2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Phenotypes Nephronophthisis 7, OMIM#611498 MONDO:0012680 Tags
Amber Amber List (moderate evidence)	GM2A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes GM2-gangliosidosis, AB variant MIM#272750 Tags
Amber Amber List (moderate evidence)	GNPNAT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Rhizomelic dysplasia, Ain-Naz type, MIM#619598 Tags
Amber Amber List (moderate evidence)	GOLGA2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Developmental delay with hypotonia, myopathy, and brain abnormalities, MIM 620240 Tags
Amber Amber List (moderate evidence)	GON7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Galloway-Mowat syndrome 9, MIM# 619603 Tags
Amber Amber List (moderate evidence)	GRHL2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Ectodermal dysplasia/short stature syndrome MIM#616029 Tags
Amber Amber List (moderate evidence)	GRIA3	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Genomics England PanelApp Phenotypes Intellectual developmental disorder, X-linked, syndromic, Wu type (MIM#300699) Tags
Amber Amber List (moderate evidence)	GRIK2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genomics England PanelApp Phenotypes Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580 Tags
Amber Amber List (moderate evidence)	GRK2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Jeune asphyxiating thoracic dystrophy (ATD), MONDO:0018770 Tags
Amber Amber List (moderate evidence)	HACE1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Genomics England PanelApp Phenotypes Spastic paraplegia and psychomotor retardation with or without seizures, 616756 MONDO:0014764 Tags
Amber Amber List (moderate evidence)	HAND1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Literature Phenotypes Congenital heart disease, MONDO:0005453 Tags
Amber Amber List (moderate evidence)	HAND2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Literature Phenotypes Congenital heart disease, MONDO:0005453, HAND2-related Tags
Amber Amber List (moderate evidence)	HDAC4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Genomics England PanelApp Phenotypes Brachydactyly mental retardation syndrome Brachydactyly without intellectual disability Tags
Amber Amber List (moderate evidence)	HOXA11	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 , OMIM #605432 Tags
Amber Amber List (moderate evidence)	HOXD12	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Clubfoot (non-syndromic) MONDO:0007342 Tags
Amber Amber List (moderate evidence)	HSD17B10	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Genomics England PanelApp Phenotypes HSD10 mitochondrial disease, MIM# 300438 Tags
Amber Amber List (moderate evidence)	HSF4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genomics England PanelApp Phenotypes Cataract 5, multiple types MIM#116800 Tags
Amber Amber List (moderate evidence)	IFT81	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 19 with or without polydactyly, MONDO:0033485 Short-rib thoracic dysplasia 19 with or without polydactyly, OMIM:617895 Tags
Amber Amber List (moderate evidence)	INPP5K	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404 Tags
Amber Amber List (moderate evidence)	ISLR2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Literature Phenotypes Hydrocephalus arthrogryposis Tags
Amber Amber List (moderate evidence)	JAGN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Neutropenia, severe congenital, 6, autosomal recessive (MIM#616022) Tags
Amber Amber List (moderate evidence)	KCNJ11	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Diabetes mellitus, transient neonatal 3 (MIM#610582) Diabetes, permanent neonatal 2, with or without neurologic features (MIM#618856) Tags
Amber Amber List (moderate evidence)	KCTD1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Genomics England PanelApp Phenotypes Scalp-ear-nipple syndrome MIM#181270 Tags
Amber Amber List (moderate evidence)	KIF21A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Severe fetal akinesia with arthrogryposis multiplex Tags
Amber Amber List (moderate evidence)	KMT2E	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Genetic Health Queensland Genomics England PanelApp Literature Phenotypes O'Donnell-Luria-Rodan syndrome MIM#618512 Tags
Amber Amber List (moderate evidence)	KPTN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Genomics England PanelApp Phenotypes Mental retardation, autosomal recessive 41 (MIM#615637) Tags
Amber Amber List (moderate evidence)	KRIT1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genomics England PanelApp Phenotypes Cavernous malformations of CNS and retina MIM#116860 Cerebral cavernous malformations-1 MIM#116860 Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations MIM#116860 Tags
Amber Amber List (moderate evidence)	LAMB2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Pierson syndrome-MIM#609049 Nephrotic syndrome, type 5, with or without ocular abnormalities-MIM#614199 Tags
Amber Amber List (moderate evidence)	LINGO1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mental retardation, autosomal recessive 64 - MIM#618103 Tags
Amber Amber List (moderate evidence)	LINS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Mental retardation, autosomal recessive 27 (MIM#614340) autosomal recessive intellectual disability (MIM#614340) Tags
Amber Amber List (moderate evidence)	LMOD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, MIM# 619362 Tags
Amber Amber List (moderate evidence)	LOXL3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Stickler syndrome cleft lip/palate Tags
Amber Amber List (moderate evidence)	LRP6	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Tooth agenesis, selective, 7 - MIM#616724 cleft lip/palate Tags
Amber Amber List (moderate evidence)	LRPPRC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111 Tags
Amber Amber List (moderate evidence)	LRRC32	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cleft palate, proliferative retinopathy, and developmental delay - MIM#619074 Tags
Amber Amber List (moderate evidence)	MAFB	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Genomics England PanelApp Phenotypes Multicentric carpotarsal osteolysis syndrome (MIM#166300) Tags
Amber Amber List (moderate evidence)	MBOAT7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Intellectual disability MIM#617188 Tags
Amber Amber List (moderate evidence)	MCM7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Meier-Gorlin syndrome Microcephaly Intellectual disability Lipodystrophy Adrenal insufficiency Tags
Amber Amber List (moderate evidence)	MED11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, MIM# 620327 Tags
Amber Amber List (moderate evidence)	MESP1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Literature Phenotypes Congenital heart disease Tags
Amber Amber List (moderate evidence)	MFN2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial disease, MONDO:0044970, MFN2-related Tags
Amber Amber List (moderate evidence)	MGAT2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Genomics England PanelApp Phenotypes Congenital disorder of glycosylation, type IIa, MIM# 212066 MGAT2-CDG, MONDO:0008908 Tags
Amber Amber List (moderate evidence)	MIA3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Ondontochondrodysplasia 2 with hearing loss and diabetes , MIM#619269 Tags
Amber Amber List (moderate evidence)	MIB1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Literature Phenotypes Congenital heart disease Tags
Amber Amber List (moderate evidence)	MIR17HG	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Genomics England PanelApp Phenotypes Feingold syndrome 2, MIM #614326 Tags SV/CNV
Amber Amber List (moderate evidence)	MMP15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Literature Phenotypes Congenital heart disease Tags
Amber Amber List (moderate evidence)	MMP9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Literature Phenotypes Metaphyseal anadysplasia 2 - MIM# 613073 Tags
Amber Amber List (moderate evidence)	MRPS34	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Genomics England PanelApp Phenotypes Combined oxidative phosphorylation deficiency 32, MIM# 617664 Tags
Amber Amber List (moderate evidence)	MYLK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 MIM#249210 Tags
Amber Amber List (moderate evidence)	MYLPF	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Literature Phenotypes Distal arthrogryposis type 1C (DA1C), MIM#619110 Tags
Amber Amber List (moderate evidence)	MYO9A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Literature Phenotypes Myasthenic syndrome, congenital, 24, presynaptic, OMIM:618198 Myasthenic syndrome, congenital, 24, presynaptic, MONDO:0032597 Tags
Amber Amber List (moderate evidence)	NAGA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Kanzaki disease (MIM# 609242) Schindler disease, type I and type II (MIM#609241) alpha-N-acetylgalactosaminidase deficiency (MONDO:0017779) Tags
Amber Amber List (moderate evidence)	NDUFA10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Genomics England PanelApp Phenotypes Mitochondrial complex I deficiency, nuclear type 22, MIM#618243 Tags
Amber Amber List (moderate evidence)	NEK9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Genomics England PanelApp Phenotypes Arthrogryposis, Perthes disease, and upward gaze palsy, MONDO:0013660 NEK9-related lethal skeletal dysplasia, MONDO:0014870 Lethal congenital contracture syndrome 10, OMIM:617022 Arthrogryposis, Perthes disease, and upward gaze palsy, OMIM:614262 Tags
Amber Amber List (moderate evidence)	NKX2-1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress - MIM#610978 Tags
Amber Amber List (moderate evidence)	NMNAT2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Hydrops fetalis and multiple fetal anomalies polyneuropathy erythromelalgia Tags
Amber Amber List (moderate evidence)	NODAL	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Heterotaxy, visceral, 5 (MIM#270100) Tags
Amber Amber List (moderate evidence)	NOG	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genomics England PanelApp Phenotypes Brachydactyly, type B2 (MIM#611377) Multiple synostoses syndrome 1 (MIM#186500) Stapes ankylosis with broad thumbs and toes (MIM#184460) Symphalangism, proximal, 1A (MIM#185800) Tarsal-carpal coalition syndrome (MIM#186570) Tags
Amber Amber List (moderate evidence)	NPC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Genomics England PanelApp Phenotypes Niemann-pick disease, type C2, MIM# 607625 Tags
Amber Amber List (moderate evidence)	NPM1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Dyskeratosis congenita, MONDO:0015780, NPM1-related Tags
Amber Amber List (moderate evidence)	NR0B1	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Genomics England PanelApp Phenotypes 46XY sex reversal 2, dosage-sensitive MIM#300018 Tags SV/CNV
Amber Amber List (moderate evidence)	NSUN2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Literature Phenotypes Mental retardation, autosomal recessive 5, MIM# 611091 Tags
Amber Amber List (moderate evidence)	NT5C2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Genomics England PanelApp Phenotypes Spastic paraplegia 45, autosomal recessive, MIM# 613162 MONDO:0013165 Tags
Amber Amber List (moderate evidence)	NUAK2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Anencephaly 2, OMIM #619452 Tags
Amber Amber List (moderate evidence)	NUDCD2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Multiple congenital anomalies (MONDO:0019042), NUDCD2-related Tags
Amber Amber List (moderate evidence)	NUP85	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Microcephaly, MONDO:0001149, NUP85-related Tags
Amber Amber List (moderate evidence)	NUS1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Literature Phenotypes Congenital disorder of glycosylation, type 1aa, MIM#617082 Tags
Amber Amber List (moderate evidence)	OXR1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay - MIM#213000 Tags
Amber Amber List (moderate evidence)	PAX8	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genomics England PanelApp Phenotypes Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700 Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) Tags
Amber Amber List (moderate evidence)	PDCD6IP	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Microcephaly 29, primary, autosomal recessive, MIM# 620047 Tags
Amber Amber List (moderate evidence)	PDHB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Genomics England PanelApp Phenotypes Pyruvate dehydrogenase E1-beta deficiency, MIM#614111 Tags
Amber Amber List (moderate evidence)	PDHX	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Lactic acidaemia due to PDX1 deficiency MIM#245349 Tags
Amber Amber List (moderate evidence)	PDIA6	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes Tags
Amber Amber List (moderate evidence)	PGM3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Genomics England PanelApp Phenotypes PGM3-CDG, MONDO:0014353 Immunodeficiency 23, OMIM:615816 Tags
Amber Amber List (moderate evidence)	PIGG	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Genetic Health Queensland Genomics England PanelApp Phenotypes Intellectual developmental disorder, autosomal recessive 53, MIM#616917 Tags
Amber Amber List (moderate evidence)	PIGY	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Genomics England PanelApp Phenotypes Hyperphosphatasia with mental retardation syndrome 6, MIM# 616809 Tags
Amber Amber List (moderate evidence)	PJA1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Trigonocephaly, intellectual disability Tags
Amber Amber List (moderate evidence)	PLCH1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Holoprosencephaly 14, MIM# 619895 Tags
Amber Amber List (moderate evidence)	PLEKHA5	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Literature Phenotypes cleft lip cleft palate Tags
Amber Amber List (moderate evidence)	PLEKHA7	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Cleft palate Tags
Amber Amber List (moderate evidence)	PLK1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Epilepsy microcephaly intellectual disability Tags
Amber Amber List (moderate evidence)	PNPLA6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Oliver-McFarlane syndrome - MIM#275400 Tags
Amber Amber List (moderate evidence)	POLG	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes POLG-related disorders Tags
Amber Amber List (moderate evidence)	PPP1R15B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Microcephaly, short stature, and impaired glucose metabolism 2, MIM# 616817 Tags
Amber Amber List (moderate evidence)	PPP2R5C	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes macrocephaly overgrowth Tags
Amber Amber List (moderate evidence)	PPP3CA	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Genomics England PanelApp Phenotypes Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development MIM#618265 Tags
Amber Amber List (moderate evidence)	PRDM15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Holoprosenephaly Steroid resistant nephrotic syndrome Multiple congenital anomalies Tags
Amber Amber List (moderate evidence)	PRDM6	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Literature Phenotypes Patent ductus arteriosus 3 - MIM#617039 Tags
Amber Amber List (moderate evidence)	PREPL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Genomics England PanelApp Phenotypes Myasthenic syndrome, congenital, 22, MIM#616224 Hypotonia-cystinuria syndrome Tags
Amber Amber List (moderate evidence)	PRIM1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005 Tags deep intronic founder
Amber Amber List (moderate evidence)	PRPS1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Genomics England PanelApp Phenotypes Arts syndrome MIM#301835 Tags
Amber Amber List (moderate evidence)	PSAP	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Genomics England PanelApp Phenotypes Combined SAP deficiency, MIM# 611721 Tags
Amber Amber List (moderate evidence)	PTEN	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genomics England PanelApp Literature Phenotypes Macrocephaly/autism syndrome, MIM# 605309 Tags
Amber Amber List (moderate evidence)	PTHLH	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Genomics England PanelApp Phenotypes Brachydactyly, type E2, MIM# 613382 Tags
Amber Amber List (moderate evidence)	PURA	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Genomics England PanelApp Phenotypes Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158) Tags
Amber Amber List (moderate evidence)	PUS7	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature OMIM #618342 Tags
Amber Amber List (moderate evidence)	QRICH1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Genomics England PanelApp Phenotypes Ververi-Brady syndrome, MIM#617982 Tags
Amber Amber List (moderate evidence)	RASA2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Noonan syndrome Tags
Amber Amber List (moderate evidence)	RBFOX2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Tags
Amber Amber List (moderate evidence)	RFT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Genomics England PanelApp Phenotypes Congenital disorder of glycosylation, type In, OMIM:612015 RFT1-CDG, MONDO:0012783 Tags
Amber Amber List (moderate evidence)	RNASET2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Leukoencephalopathy, cystic, without megalencephaly MIM#612951 Tags
Amber Amber List (moderate evidence)	ROBO4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Literature Phenotypes Aortic valve disease 3- MIM#618496 Tags
Amber Amber List (moderate evidence)	RORA	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Genomics England PanelApp Phenotypes Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM#618060 Tags
Amber Amber List (moderate evidence)	RPS23	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Genomics England PanelApp Phenotypes Brachycephaly, trichomegaly, and developmental delay, MIM# 617412 Tags
Amber Amber List (moderate evidence)	RPS28	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Diamond Blackfan anemia 15 with mandibulofacial dysostosis - MIM#606164 Tags
Amber Amber List (moderate evidence)	RPS29	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Diamond-Blackfan anemia 13 - MIM#615909 Tags
Amber Amber List (moderate evidence)	RRAS	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Noonan syndrome Tags
Amber Amber List (moderate evidence)	RSPRY1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Genomics England PanelApp Phenotypes Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585 Tags
Amber Amber List (moderate evidence)	SCYL2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Literature Phenotypes Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum - #618766 Tags
Amber Amber List (moderate evidence)	SDHA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Cardiomyopathy, dilated, 1GG (MIM#613642) Mitochondrial complex II deficiency, nuclear type 1 (MIM#252011) Tags
Amber Amber List (moderate evidence)	SEMA3E	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes CHARGE syndrome - MIM#214800 Tags
Amber Amber List (moderate evidence)	SENP7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related Tags
Amber Amber List (moderate evidence)	SHROOM3	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Anencephaly cleft lip and palate Tags
Amber Amber List (moderate evidence)	SIK3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Spondyloepimetaphyseal dysplasia, Krakow type, 618162 Tags
Amber Amber List (moderate evidence)	SIX6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Optic disc anomalies with retinal and/or macular dystrophy, OMIM:212550 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome, MONDO:0008927 Tags
Amber Amber List (moderate evidence)	SLC16A2	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Genetic Health Queensland Genomics England PanelApp Phenotypes Allan-Herndon-Dudley syndrome, MIM# 300523 Tags
Amber Amber List (moderate evidence)	SLC18A3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Genomics England PanelApp Phenotypes Myasthenic syndrome, congenital, 21, presynaptic, OMIM:617239 Congenital myasthenic syndrome 21, MONDO:0014983 Tags
Amber Amber List (moderate evidence)	SLC25A20	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Genomics England PanelApp Phenotypes Carnitine-acylcarnitine translocase deficiency, MIM#212138 Tags
Amber Amber List (moderate evidence)	SLC25A26	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Combined oxidative phosphorylation deficiency 28 (MIM#616794) Tags
Amber Amber List (moderate evidence)	SLC25A38	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Anaemia, sideroblastic, 2, pyridoxine-refractory, MIM#205950 Tags
Amber Amber List (moderate evidence)	SLC30A5	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Literature Phenotypes Perinatal lethal cardiomyopathy Tags
Amber Amber List (moderate evidence)	SLC31A1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Neurodegeneration and seizures due to copper transport defect, MIM# 620306 Tags
Amber Amber List (moderate evidence)	SLC35A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIf, MIM# 603585 Tags
Amber Amber List (moderate evidence)	SLC35C1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953 Tags
Amber Amber List (moderate evidence)	SLC37A4	6 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Literature Phenotypes Glycogen storage disease Ib 232220 Congenital disorder of glycosylation, type IIw 619525 Tags
Amber Amber List (moderate evidence)	SLC6A8	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Genomics England PanelApp Phenotypes Cerebral creatine deficiency syndrome 1 (MIM#300352) Tags
Amber Amber List (moderate evidence)	SLIT2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes CAKUT vesicoureteric reflux Tags
Amber Amber List (moderate evidence)	SLIT3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Literature Phenotypes Congenital diaphragmatic hernia Tags
Amber Amber List (moderate evidence)	SNAP25	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Genomics England PanelApp Phenotypes Myasthenic syndrome, congenital, 18, MIM# 616330 Developmental and epileptic encephalopathy Tags
Amber Amber List (moderate evidence)	SNX14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354) Tags
Amber Amber List (moderate evidence)	SOX3	3 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Genetic Health Queensland Genomics England PanelApp Phenotypes Panhypopituitarism, X-linked, OMIM:312000 Panhypopituitarism, X-linked, MONDO:0010712 Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252 Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123 Tags SV/CNV
Amber Amber List (moderate evidence)	SPG11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Genomics England PanelApp Phenotypes Spastic paraplegia 11, autosomal recessive, MIM# 604360 Tags
Amber Amber List (moderate evidence)	SRGAP1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes congenital anomalies of the kidney and urinary tract Tags
Amber Amber List (moderate evidence)	STAT5B	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Genomics England PanelApp Phenotypes Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, MIM# 245590 Tags
Amber Amber List (moderate evidence)	STX5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes congenital disorder of glycosylation MONDO#0015286, STX5-related Tags
Amber Amber List (moderate evidence)	TAF13	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Genomics England PanelApp Phenotypes Mental retardation, autosomal recessive 60, MIM# 617432 Microcephaly Tags
Amber Amber List (moderate evidence)	TAPT1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897) Tags
Amber Amber List (moderate evidence)	TBC1D23	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Pontocerebellar hypoplasia, type 11, MIM# 617695 Tags
Amber Amber List (moderate evidence)	TBC1D7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Macrocephaly/megalencephaly syndrome, autosomal recessive - MIM#248000 Tags
Amber Amber List (moderate evidence)	TBL1XR1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genomics England PanelApp Phenotypes Mental retardation, autosomal dominant 41, MIM# 616944 Pierpont syndrome, MIM# 602342 Tags
Amber Amber List (moderate evidence)	TBR1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Genomics England PanelApp Phenotypes Intellectual developmental disorder with autism and speech delay, MIM# 606053 Tags
Amber Amber List (moderate evidence)	TBX2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Literature Phenotypes Vertebral anomalies and variable endocrine and T-cell dysfunction - MIM#618223 Congenital heart disease skeletal abnormalities thymus aplasia Tags
Amber Amber List (moderate evidence)	TECPR2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Genomics England PanelApp Phenotypes Spastic paraplegia 49, autosomal recessive, 615031 Autonomic-sensory neuropathy Intellectual disability Tags
Amber Amber List (moderate evidence)	TERT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Genomics England PanelApp Phenotypes Dyskeratosis congenita, autosomal recessive 4, OMIM #613989 Hoyeraal-Hreidarsson syndrome Tags
Amber Amber List (moderate evidence)	THRB	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Thyroid hormone resistance, autosomal recessive - MIM#274300 Thyroid hormone resistance - MIM#188570 Thyroid hormone resistance, selective pituitary - MIM#145650 Tags
Amber Amber List (moderate evidence)	TKT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Genomics England PanelApp Phenotypes Short stature, developmental delay, and congenital heart defects OMIM #617044 Tags
Amber Amber List (moderate evidence)	TMEM126B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Mitochondrial complex I deficiency, nuclear type 29 (MIM#618250) Tags
Amber Amber List (moderate evidence)	TMEM70	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Genomics England PanelApp Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 MIM#614052 Tags
Amber Amber List (moderate evidence)	TNNI1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Arthrogryposis MONDO:0008779, TNNI1-related Tags
Amber Amber List (moderate evidence)	TOPORS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes MONDO:0005308 ciliopathy postaxial polydactyly multiple lingual hamartomas dysmorphic features Tags
Amber Amber List (moderate evidence)	TRIP13	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Genomics England PanelApp Phenotypes Mosaic variegated aneuploidy syndrome 3, MIM# 617598 Tags
Amber Amber List (moderate evidence)	TRMT10C	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Combined oxidative phosphorylation deficiency 30, MIM# 616974 Tags
Amber Amber List (moderate evidence)	TRPM7	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genomics England PanelApp Phenotypes Cardiac arrhythmia, stillbirth Tags
Amber Amber List (moderate evidence)	UNC50	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Literature Phenotypes Arthrogryposis multiplex congenita Tags
Amber Amber List (moderate evidence)	UNC80	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Genomics England PanelApp Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801 MONDO:0014777 Tags
Amber Amber List (moderate evidence)	VEGFC	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genomics England PanelApp Phenotypes Lymphatic malformation 4, MIM# 615907 Tags
Amber Amber List (moderate evidence)	VPS13B	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Genomics England PanelApp Phenotypes Cohen syndrome (MIM# 216550) Tags
Amber Amber List (moderate evidence)	VPS50	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685 Tags
Amber Amber List (moderate evidence)	VPS51	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Pontocerebellar hypoplasia, type 13, MIM# 618606 Tags
Amber Amber List (moderate evidence)	WDR11	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Literature Phenotypes Intellectual disability Microcephaly Short stature Tags
Amber Amber List (moderate evidence)	WDR26	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Genomics England PanelApp Phenotypes Skraban-Deardorff syndrome, MIM#617616 Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features Tags
Amber Amber List (moderate evidence)	WDR81	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Genomics England PanelApp Phenotypes Hydrocephalus, congenital, 3, with brain anomalies, MONDO:0054794 Hydrocephalus, congenital, 3, with brain anomalies, OMIM:617967 Tags
Amber Amber List (moderate evidence)	WDR91	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Literature Phenotypes Hydrocephaly Hygroma Tags
Amber Amber List (moderate evidence)	WNT4	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Mullerian aplasia and hyperandrogenism (MIM#158330) SERKAL syndrome, OMIM #611812 Tags
Amber Amber List (moderate evidence)	WNT9B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Renal agenesis/hypoplasia/dysplasia, no OMIM # Tags
Amber Amber List (moderate evidence)	ZBTB42	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Literature Phenotypes Lethal congenital contracture syndrome 6- #616248 Tags
Amber Amber List (moderate evidence)	ZDHHC9	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Genomics England PanelApp Phenotypes Mental retardation, X-linked syndromic, Raymond type, MIM# 300799 Tags
Amber Amber List (moderate evidence)	ZNF423	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Amber Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Phenotypes Joubert syndrome 19 614844 Nephronophthisis 14 614844 Tags
Amber Amber List (moderate evidence)	ZNF668	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, MIM# 620194 Tags
Red Red List (low evidence)	AAAS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Triple-A syndrome, MONDO:0009279 Achalasia-addisonianism-alacrimia syndrome, OMIM:231550 Tags
Red Red List (low evidence)	AASS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Hyperlysinemia (disease), MONDO:0009388 Hyperlysinemia, OMIM:238700 Tags
Red Red List (low evidence)	ABCB11	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479 AR Cholestasis, progressive familial intrahepatic 2, MIM# 601847 AR Tags
Red Red List (low evidence)	ABCB7	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genomics England PanelApp Phenotypes Anaemia, sideroblastic, with ataxia, MIM# 301310 Tags
Red Red List (low evidence)	ABCC8	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Diabetes mellitus, permanent neonatal 3, with or without neurologic features, MIM# 618857 Tags
Red Red List (low evidence)	ABCD1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genomics England PanelApp Phenotypes Adrenoleukodystrophy, MIM# 300100 Tags
Red Red List (low evidence)	ACADM	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450 Tags
Red Red List (low evidence)	ACADS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470 Tags
Red Red List (low evidence)	ACAT1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Alpha-methylacetoacetic aciduria, MIM# 203750 Tags
Red Red List (low evidence)	ACBD5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Retinal dystrophy with leukodystrophy - MIM#618863 Tags
Red Red List (low evidence)	ACVR2B	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Heterotaxy, visceral, 4, autosomal 613751 Tags
Red Red List (low evidence)	ADA	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Severe combined immunodeficiency due to ADA deficiency, MIM# 102700 MONDO:0007064 Tags
Red Red List (low evidence)	ADAR	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Aicardi-Goutieres syndrome 6, MIM# 615010 Tags
Red Red List (low evidence)	ADD3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Cerebral palsy, spastic quadriplegic, 3 MIM#617008 Tags
Red Red List (low evidence)	AFF2	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Mental retardation, X-linked, FRAXE type 309548 Tags STR SV/CNV
Red Red List (low evidence)	AGA	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Aspartylglucosaminuria, MIM#208400 Tags
Red Red List (low evidence)	AGL	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Glycogen storage disease IIIa, MIM# 232400 Tags
Red Red List (low evidence)	AGMO	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes neurodevelopmental disorder, AGMO-related MONDO#0700092 Tags
Red Red List (low evidence)	AGPAT2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Lipodystrophy, congenital generalized, type 1, MIM# 608594 Tags
Red Red List (low evidence)	AGXT	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Hyperoxaluria, primary, type 1, MIM# 259900 MONDO:0009823 Tags
Red Red List (low evidence)	AIPL1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Leber congenital amaurosis 4, 604393 Cone-rod dystrophy, 604393 Retinitis pigmentosa, juvenile, 604393 Tags
Red Red List (low evidence)	AIRE	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300 Tags
Red Red List (low evidence)	AK2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Reticular dysgenesis, MIM# 267500 MONDO:0009973 Tags
Red Red List (low evidence)	AKR1D1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Bile acid synthesis defect, congenital, 2, MIM# 235555 Tags
Red Red List (low evidence)	ALAD	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Porphyria, acute hepatic , MIM#612740 Tags
Red Red List (low evidence)	ALDH3A2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Sjogren-Larsson syndrome MIM#270200 spasticity ichthyosis intellectual disability Tags
Red Red List (low evidence)	ALDH4A1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Hyperprolinaemia, type II, MIM# 239510 Tags
Red Red List (low evidence)	ALDH5A1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 Tags
Red Red List (low evidence)	ALDH7A1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Epilepsy, pyridoxine-dependent, MIM# 266100 Tags
Red Red List (low evidence)	ALDOA	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Glycogen storage disease XII, MIM#611881 Tags
Red Red List (low evidence)	ALDOB	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Fructose intolerance, hereditary, MIM#229600 Tags
Red Red List (low evidence)	ALG2	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228 Congenital disorder of glycosylation, type Ii, MIM# 607906 Tags
Red Red List (low evidence)	ALOX12B	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Ichthyosis, congenital, autosomal recessive 2, MIM#242100 Tags
Red Red List (low evidence)	ALOXE3	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Ichthyosis, congenital, autosomal recessive 3, MIM#606545 Tags
Red Red List (low evidence)	ALS2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Spastic paralysis, infantile onset ascending, MIM#607225 Tags
Red Red List (low evidence)	AMACR	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Bile acid synthesis defect, congenital, 4, MIM# 214950 Tags
Red Red List (low evidence)	AMMECR1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genomics England PanelApp Phenotypes Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990 Tags
Red Red List (low evidence)	ANKRD26	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Thrombocytopaenia 2, MIM# 188000 Tags
Red Red List (low evidence)	ANO5	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Gnathodiaphyseal dysplasia, MIM# 166260 Miyoshi muscular dystrophy 3, MIM# 613319 Muscular dystrophy, limb-girdle, autosomal recessive 12, MIM# 611307 Tags
Red Red List (low evidence)	AP3B1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Hermansky-Pudlak syndrome 2, MIM# 608233 MONDO:0011997 Tags
Red Red List (low evidence)	APOPT1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Mitochondrial complex IV deficiency, nuclear type 17, MIM#619061 Tags
Red Red List (low evidence)	APTX	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia, MIM#208920 Tags
Red Red List (low evidence)	ARG1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Argininaemia, MIM# 207800 Tags
Red Red List (low evidence)	ARPC4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes neurodevelopmental disorder, ARPC4-related MONDO#0700092 Tags
Red Red List (low evidence)	ARSA	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Metachromatic leukodystrophy, MIM# 250100 Tags
Red Red List (low evidence)	ASL	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Argininosuccinic aciduria, MIM#207900 Tags
Red Red List (low evidence)	ASS1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Citrullinemia, MIM# 215700 Tags
Red Red List (low evidence)	ATM	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Ataxia-telangiectasia, MIM# 208900 Tags
Red Red List (low evidence)	ATP13A2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Kufor-Rakeb syndrome, MIM# 606693 Spastic paraplegia 78, autosomal recessive, MIM# 617225 Tags
Red Red List (low evidence)	ATP6V1B1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300 Tags
Red Red List (low evidence)	ATP8B1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Cholestasis, progressive familial intrahepatic 1, MIM# 211600 Tags
Red Red List (low evidence)	ATRIP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Seckel Syndrome Tags
Red Red List (low evidence)	AUH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes 3-methylglutaconic aciduria, type I, MIM# 250950 Tags
Red Red List (low evidence)	BANF1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Nestor-Guillermo progeria syndrome, MIM# 614008 Tags
Red Red List (low evidence)	BCKDHA	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Maple syrup urine disease, type Ia, MIM# 248600 Tags
Red Red List (low evidence)	BCKDHB	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Maple syrup urine disease, type Ib, MIM# 248600 Tags
Red Red List (low evidence)	BGN	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genomics England PanelApp Phenotypes Spondyloepimetaphyseal dysplasia, X-linked, MIM# 300106 Tags
Red Red List (low evidence)	BLOC1S6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Hermansky-Pudlak syndrome 9, MIM# 614171 Tags
Red Red List (low evidence)	BMPR2	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Persistent pulmonary hypertension of the neonate Pulmonary hypertension, familial primary, 1, with or without HHT - MIM#178600 Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated- MIM#178600 Pulmonary venoocclusive disease 1-#265450 Tags
Red Red List (low evidence)	BRWD1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Literature Phenotypes Situs inversus Ciliary dyskinesia, primary, 51, MIM# 620438 Tags disputed
Red Red List (low evidence)	BTD	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Biotinidase deficiency, MIM# 253260 Tags
Red Red List (low evidence)	C12orf65	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Combined oxidative phosphorylation deficiency 7, MIM# 613559 Spastic paraplegia 55, autosomal recessive, MIM# 615035 Tags
Red Red List (low evidence)	CA5A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Hyperammonemia due to carbonic anhydrase VA deficiency, MIM# 615751 Tags
Red Red List (low evidence)	CA8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, MIM#613227 Tags
Red Red List (low evidence)	CACNA1A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Developemental and epileptic encephalopathy 42, MIM# 617106 Episodic ataxia, type 2, MIM# 108500 Migraine, familial hemiplegic, 1, MIM# 141500 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500 Spinocerebellar ataxia 6, MIM# 183086 Tags
Red Red List (low evidence)	CAD	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Genomics England PanelApp Phenotypes Epileptic encephalopathy, early infantile, 50, MIM# MIM 616457 Tags
Red Red List (low evidence)	CALCRL	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Literature Phenotypes Lymphatic malformation 8, MONDO:0032907 Lymphatic malformation 8, OMIM:618773 Hydrops fetalis Tags
Red Red List (low evidence)	CAMK2A	1 review 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Mental retardation, autosomal recessive 63 MIM#618095 Mental retardation, autosomal dominant 53 MIM#617798 Tags
Red Red List (low evidence)	CAMTA1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD) Tags
Red Red List (low evidence)	CARS2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Genomics England PanelApp Phenotypes Combined oxidative phosphorylation deficiency 27, MIM#616672 Tags
Red Red List (low evidence)	CASR	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Hyperparathyroidism, neonatal, MIM# 239200 Tags
Red Red List (low evidence)	CAVIN1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Lipodystrophy, congenital generalized, type 4 , MIM# 613327 Tags
Red Red List (low evidence)	CBS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Homocystinuria, B6-responsive and nonresponsive types, MIM# 236200 Tags
Red Red List (low evidence)	CC2D1A	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Mental retardation, autosomal recessive 3, MIM# 608443 Tags
Red Red List (low evidence)	CCDC115	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Literature Phenotypes Congenital disorder of glycosylation, type IIo, MIM# 616828 Tags
Red Red List (low evidence)	CCDC65	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 27, MIM# 615504 Tags
Red Red List (low evidence)	CCDC78	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Centronuclear myopathy 4, MIM#614807 Tags
Red Red List (low evidence)	CCNO	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Ciliary dyskinesia, primary, 29 615872 Tags
Red Red List (low evidence)	CD151	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057 Tags
Red Red List (low evidence)	CD96	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes C syndrome, MIM#211750 Tags
Red Red List (low evidence)	CDC6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Meier-Gorlin syndrome 5 (MIM#613805) Tags
Red Red List (low evidence)	CDCA8	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Congenital hypothyroidism, thyroid dysgenesis, no OMIM # Tags
Red Red List (low evidence)	CENPE	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Microcephaly 13, primary, autosomal recessive (MIM#616051) Tags
Red Red List (low evidence)	CERS3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Ichthyosis, congenital, autosomal recessive 9, MIM# 615023 Tags
Red Red List (low evidence)	CFAP43	1 review 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hydrocephalus, normal pressure, 1 236690 Spermatogenic failure 19 617592 Tags
Red Red List (low evidence)	CFAP57	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Van der Woude syndrome primary ciliary dyskinesia like Tags
Red Red List (low evidence)	CFAP74	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes infertility primary ciliary dyskinesia Tags
Red Red List (low evidence)	CFL2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Nemaline myopathy 7, MONDO:0012538 Nemaline myopathy 7, autosomal recessive, OMIM:610687 Tags
Red Red List (low evidence)	CHD2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Developmental and epileptic encephalopathy 94, MIM# 615369 Tags
Red Red List (low evidence)	CHKA	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, MIM#620023 Tags
Red Red List (low evidence)	CHRDL1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genomics England PanelApp Phenotypes Megalocornea 1, X-linked, MIM# 309300 Tags
Red Red List (low evidence)	CNBP	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Myotonic dystrophy 2, MIM#602668 Tags STR
Red Red List (low evidence)	CNKSR2	1 review 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Genomics England PanelApp Phenotypes Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008 Tags
Red Red List (low evidence)	COL4A3BP	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Mental retardation, autosomal dominant 34, MIM# 616351 Tags
Red Red List (low evidence)	COLQ	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Myasthenic syndrome, congenital, 5, MIM#603034 Tags
Red Red List (low evidence)	COPB1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Baralle-Macken syndrome, MIM# 619255 Severe intellectual disability variable microcephaly cataracts Tags
Red Red List (low evidence)	COPB2	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Microcephaly 19, primary, autosomal recessive, MIM# 617800 Tags
Red Red List (low evidence)	COX6B1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051 Tags
Red Red List (low evidence)	CPS1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Carbamoylphosphate synthetase I deficiency MIM#237300 Tags
Red Red List (low evidence)	CSTA	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Peeling skin syndrome 4, MIM# 607936 Tags
Red Red List (low evidence)	CSTB	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800 Tags
Red Red List (low evidence)	CTNS	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Cystinosis, late-onset juvenile or adolescent nephropathic MIM#219900 Cystinosis, nephropathic MIM#219800 Cystinosis, ocular nonnephropathic MIM#219750 Tags
Red Red List (low evidence)	CUX2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Epileptic encephalopathy, early infantile, 67, MIM#618141 Tags
Red Red List (low evidence)	CYC1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Mitochondrial complex III deficiency, nuclear type 6, MIM# 615453 Tags
Red Red List (low evidence)	CYP19A1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Aromatase deficiency (MIM#613546), AR Aromatase excess syndrome (MIM#139300), AD Tags
Red Red List (low evidence)	CYP2U1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Spastic paraplegia 56, autosomal recessive, MIM#615030 Tags
Red Red List (low evidence)	CYP4F22	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Ichthyosis, congenital, autosomal recessive 5, MIM# 604777 Tags
Red Red List (low evidence)	DARS2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105 Tags
Red Red List (low evidence)	DBT	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Maple syrup urine disease, type II (MIM#248600) Tags
Red Red List (low evidence)	DDB2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Xeroderma pigmentosum, group E, DDB-negative subtype MIM#278740 Tags
Red Red List (low evidence)	DDC	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Aromatic L-amino acid decarboxylase deficiency, OMIM:608643 Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084 Tags
Red Red List (low evidence)	DDHD1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Spastic paraplegia 28, autosomal recessive, 609340 MONDO:0012256 Tags
Red Red List (low evidence)	DDHD2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Spastic paraplegia 54, autosomal recessive, MIM# 615033 MONDO:0014018 Tags
Red Red List (low evidence)	DDOST	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Congenital disorder of glycosylation, type Ir, MIM# 614507 Tags
Red Red List (low evidence)	DHDDS	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Genomics England PanelApp Phenotypes Developmental delay and seizures with or without movement abnormalities, MIM#617836 Tags
Red Red List (low evidence)	DHFR	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Megaloblastic anaemia due to dihydrofolate reductase deficiency, MIM# 613839 Tags
Red Red List (low evidence)	DHH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes 46XY gonadal dysgenesis with minifascicular neuropathy MIM#607080 Tags
Red Red List (low evidence)	DHX30	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Neurodevelopmental disorder with severe motor impairment and absent language, MIM#617804 Tags
Red Red List (low evidence)	DLAT	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Pyruvate dehydrogenase E2 deficiency, MIM#245348 Tags
Red Red List (low evidence)	DLD	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Dihydrolipoamide dehydrogenase deficiency MIM#246900 Tags
Red Red List (low evidence)	DLG3	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Mental retardation, X-linked 90, MIM#300850 Tags
Red Red List (low evidence)	DLG4	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Intellectual developmental disorder 62, MIM# 618793 Tags
Red Red List (low evidence)	DMP1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Hypophosphatemic rickets, AR MIM#241520 Tags
Red Red List (low evidence)	DNAH2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Literature Phenotypes Hydrops complex congenital heart disease heterotaxy Tags
Red Red List (low evidence)	DNAH8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes primary ciliary dyskinesia Tags
Red Red List (low evidence)	DNAJB13	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Primary ciliary dyskinesia Tags
Red Red List (low evidence)	DNAJC12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Genomics England PanelApp Phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384 Tags
Red Red List (low evidence)	DNM1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Developmental and epileptic encephalopathy 31A, autosomal dominant, MIM# 616346 Developmental and epileptic encephalopathy 31B, autosomal recessive, MIM# 620352 Tags
Red Red List (low evidence)	DNM2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Genomics England PanelApp Phenotypes Lethal congenital contracture syndrome 5, MIM#615368 Tags
Red Red List (low evidence)	DPM3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, 618992 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937 Tags
Red Red List (low evidence)	DRC1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Ciliary dyskinesia, primary, 21, MIM# 615294 Tags
Red Red List (low evidence)	DSTYK	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Congenital anomalies of kidney and urinary tract 1, MIM# 610805 Spastic paraplegia 23, MIM# 270750 Tags
Red Red List (low evidence)	DUOX1	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes congenital hypothyroidism, No OMIM # Tags
Red Red List (low evidence)	DUOX2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Thyroid dyshormonogenesis 6 - MIM#607200 Tags
Red Red List (low evidence)	DUOXA1	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes congenital hypothyroidism, No OMIM # Tags
Red Red List (low evidence)	DUOXA2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Thyroid dyshormonogenesis 5, MIM# 274900 Tags
Red Red List (low evidence)	DUSP6	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Hypogonadotropic hypogonadism 19 with or without anosmia 615269 Tags
Red Red List (low evidence)	EEF1A2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Mental retardation, autosomal dominant 38, MIM# 616393 MONDO:0014617 Developmental and epileptic encephalopathy 33, MIM# 616409 MONDO:0014625 Tags
Red Red List (low evidence)	EGR2	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Charcot-Marie-Tooth disease, type 1D, MIM# 607678 Dejerine-Sottas disease, MIM# 145900 Hypomyelinating neuropathy, congenital, 1, MIM# 605253 Tags
Red Red List (low evidence)	ELMO2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Vascular malformation, primary intraosseous, MIM# 606893 Tags
Red Red List (low evidence)	EMD	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genomics England PanelApp Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked 310300 Tags
Red Red List (low evidence)	ENO1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Polymicrogyria, MONDO:0000087, ENO1-related Tags
Red Red List (low evidence)	EOMES	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes microcephaly polymicrogyria corpus callosum agenesis Tags
Red Red List (low evidence)	ERMARD	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Periventricular nodular heterotopia 6 (MIM#615544) Tags
Red Red List (low evidence)	ETHE1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Ethylmalonic encephalopathy, MIM# 602473 Tags
Red Red List (low evidence)	ETV2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes multiple fetal anomalies congenital heart disease MONDO:000545, ETV2-related vertebral malformations Tags
Red Red List (low evidence)	EXPH5	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive, OMIM #615028 Tags
Red Red List (low evidence)	FAH	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Tyrosinemia, type I, MIM#276700 Tags
Red Red List (low evidence)	FANCM	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Fanconi anaemia Tags
Red Red List (low evidence)	FARS2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Combined oxidative phosphorylation deficiency 14, MIM#614946 Tags
Red Red List (low evidence)	FBXO11	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, MIM# 618089 Tags
Red Red List (low evidence)	FDXR	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Auditory neuropathy and optic atrophy, MIM# 617717 Tags
Red Red List (low evidence)	FERMT3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Leukocyte adhesion deficiency, type III - MIM#612840 Tags
Red Red List (low evidence)	FEZF1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Hypogonadotropic hypogonadism 22, with or without anosmia, MIM# 616030 Tags
Red Red List (low evidence)	FGF12	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Developmental and epileptic encephalopathy 47, MIM# 617166 Tags
Red Red List (low evidence)	FGF17	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Hypogonadotropic hypogonadism 20 with or without anosmia 615270 Tags
Red Red List (low evidence)	FLAD1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100 Tags
Red Red List (low evidence)	FLRT3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Hypogonadotropic hypogonadism 21 with anosmia (MIM# 615271) Tags
Red Red List (low evidence)	FLVCR1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Ataxia, posterior column, with retinitis pigmentosa, MIM#609033 Tags
Red Red List (low evidence)	FMN2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Intellectual developmental disorder, autosomal recessive 47, MIM#616193 Tags
Red Red List (low evidence)	FOLR1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068 Tags
Red Red List (low evidence)	FOXL2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Blepharophimosis, epicanthus inversus, and ptosis, type 1 with premature ovarian insufficiency (POI) and type II without POI (MIM# 110100) Tags
Red Red List (low evidence)	FOXP1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Literature Phenotypes Mental retardation with language impairment and with or without autistic features, MIM# 613670 Tags
Red Red List (low evidence)	FOXP2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Speech-language disorder-1, MIM# 602081 Tags
Red Red List (low evidence)	FOXR1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Postnatal microcephaly, progressive brain atrophy and global developmental delay Tags
Red Red List (low evidence)	FRRS1L	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Genomics England PanelApp Phenotypes Epileptic encephalopathy, early infantile, 37, MIM#616981 Tags
Red Red List (low evidence)	FTSJ1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genomics England PanelApp Phenotypes Intellectual developmental disorder, X-linked 9, MIM# 309549 Tags
Red Red List (low evidence)	FUCA1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Genomics England PanelApp Phenotypes Fucosidosis, MIM# 230000 Tags
Red Red List (low evidence)	G6PD	1 review 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Literature Phenotypes Haemolytic anaemia, G6PD deficient (300908) Tags
Red Red List (low evidence)	GABRA1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Epileptic encephalopathy, early infantile, 19 615744 Rett syndrome Rett-like phenotypes idiopathic generalized Epilepsy Dravet syndrome Tags
Red Red List (low evidence)	GABRB3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Epileptic encephalopathy, early infantile, 43, MIM# 617113 Tags
Red Red List (low evidence)	GABRG2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Epileptic encephalopathy, early infantile, 74 618396 Epilepsy, generalized, with febrile seizures plus, type 3, 607681 Tags
Red Red List (low evidence)	GALC	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Genomics England PanelApp Phenotypes Krabbe disease, OMIM:245200 Tags
Red Red List (low evidence)	GALT	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Galactosaemia, MIM#230400 Tags
Red Red List (low evidence)	GAMT	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Cerebral creatine deficiency syndrome 2 MIM#612736 Tags
Red Red List (low evidence)	GANAB	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Polycystic kidney disease 3 with or without polycystic liver disease, MONDO:0010916 Polycystic kidney disease 3, OMIM:600666 Tags
Red Red List (low evidence)	GAS2L2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes ?Ciliary dyskinesia, primary, 41 - OMIM#618449 Tags
Red Red List (low evidence)	GAS8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 33, MIM# 616726 Tags
Red Red List (low evidence)	GATM	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Cerebral creatine deficiency syndrome 3, MIM# 612718 Tags
Red Red List (low evidence)	GBA2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Spastic paraplegia 46, autosomal recessive, MIM#614409 Tags
Red Red List (low evidence)	GDF2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Literature Phenotypes hydrops hydrothorax Lymphatic dysplasia Tags
Red Red List (low evidence)	GDF3	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Microphthalmia with coloboma 6, OMIM #613703 Microphthalmia, isolated 7, OMIM # 613704 Tags
Red Red List (low evidence)	GDI1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genomics England PanelApp Phenotypes Intellectual developmental disorder, X-linked 41 MIM#300849 Tags
Red Red List (low evidence)	GFPT1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Myasthenia, congenital, 12, with tubular aggregates, OMIM:610542 Congenital myasthenic syndrome 12, MONDO:0012518 Tags
Red Red List (low evidence)	GINS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Meier-Gorlin syndrome, MONDO:0016817, GINS3-related Tags
Red Red List (low evidence)	GK	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genomics England PanelApp Phenotypes Glycerol kinase deficiency MIM#307030 Tags
Red Red List (low evidence)	GLA	1 review 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Genomics England PanelApp Phenotypes Fabry disease, 301500 Tags
Red Red List (low evidence)	GLMN	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Glomuvenous malformations MIM#138000 Tags
Red Red List (low evidence)	GLUD1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Hyperinsulinism-hyperammonemia syndrome, MIM#606762 Tags
Red Red List (low evidence)	GMPPA	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Alacrima, achalasia, and mental retardation syndrome (MIM# 615510) Tags
Red Red List (low evidence)	GNA11	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Hypocalcemia, autosomal dominant 2 MIM#615361 Hypocalciuric hypercalcemia, type II MIM#145981 Congenital Haemangioma Tags
Red Red List (low evidence)	GNA14	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Congenital vascular tumours Tags
Red Red List (low evidence)	GNAI1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes GNAI1 syndrome Developmental delay, seizures, and hypotonia Tags
Red Red List (low evidence)	GNAQ	1 review 1 red	Other	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Sturge-Weber syndrome, somatic, mosaic, MIM#185300 Tags
Red Red List (low evidence)	GNB5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Genomics England PanelApp Phenotypes Intellectual developmental disorder with cardiac arrhythmia, 617173 Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182 Early infantile epileptic encephalopathy (EIEE) Tags
Red Red List (low evidence)	GNPTG	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Mucolipidosis III gamma, MIM# 252605 MONDO:0009652 Tags
Red Red List (low evidence)	GPAA1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810 Tags
Red Red List (low evidence)	GPKOW	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genomics England PanelApp Phenotypes male-lethal microcephaly with intrauterine growth restriction Tags
Red Red List (low evidence)	GPT2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder with microcephaly and spastic paraplegia MIM#616281 Tags
Red Red List (low evidence)	GRIN2A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570 Tags
Red Red List (low evidence)	GRIN2D	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Genomics England PanelApp Phenotypes Epileptic encephalopathy, early infantile, 46, MIM# 617162 intellectual disability Tags
Red Red List (low evidence)	GRM1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Spinocerebellar ataxia, autosomal recessive 13 MIM#614831 Tags
Red Red List (low evidence)	GSPT2	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes XL intellectual disability Tags
Red Red List (low evidence)	GTF2E2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Literature Phenotypes Trichothiodystrophy 6, nonphotosensitive, MIM #616943 Tags
Red Red List (low evidence)	H19	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Beckwith-Wiedemann syndrome 130650 Silver-Russell syndrome 180860 Wilms tumor 2 194071 Tags
Red Red List (low evidence)	HADH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM#231530 Hyperinsulinemic hypoglycemia, familial, 4, MIM#609975 Tags
Red Red List (low evidence)	HECW2	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Neurodevelopmental disorder with hypotonia, seizures, and absent language (MIM#617268) Tags
Red Red List (low evidence)	HEXA	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Tay-Sachs disease - MIM#272800 Tags
Red Red List (low evidence)	HEXB	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Sandhoff disease, infantile, juvenile, and adult forms-MIM#268800 Tags
Red Red List (low evidence)	HEY2	1 review 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes congenital heart defects and thoracic aortic aneurysms Tags
Red Red List (low evidence)	HGSNAT	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930 MONDO:0009657 Tags
Red Red List (low evidence)	HNRNPU	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Epileptic encephalopathy, early infantile, 54, MIM#617391 Tags
Red Red List (low evidence)	HOXB1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Facial paresis, hereditary congenital, 3, MIM# 614744 MONDO:0013880 Tags
Red Red List (low evidence)	HOXB6	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Hypospadias Tags
Red Red List (low evidence)	HPD	2 reviews 2 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Hawkinsinuria (MIM#140350), AD Tyrosinemia type III (MIM#276710), AR Tags
Red Red List (low evidence)	HPGD	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Hypertrophic osteoarthropathy, primary, autosomal recessive 1 MIM#259100 Cranioosteoarthropathy MIM#259100 Tags
Red Red List (low evidence)	HR	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Atrichia with papular lesions MIM#209500 Tags
Red Red List (low evidence)	HYAL1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Mucopolysaccharidosis type IX, MIM# 601492 MONDO:0011093 Tags
Red Red List (low evidence)	HYDIN	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Ciliary dyskinesia, primary, 5 (MIM#08647) Tags
Red Red List (low evidence)	IDH1	1 review 1 red	Other	Sources Expert Review Red Genomics England PanelApp Phenotypes Ollier disease MONDO:0008145 Maffucci syndrome MONDO:0013808 Tags
Red Red List (low evidence)	IGFBP7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Retinal arterial macroaneurysm with supravalvular pulmonic stenosis MIM#614224 Tags
Red Red List (low evidence)	IGSF1	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genomics England PanelApp Phenotypes Hypothyroidism, central, and testicular enlargement MIM#300888 Tags
Red Red List (low evidence)	IL1RAPL1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genomics England PanelApp Phenotypes Intellectual developmental disorder, X-linked 21 MIM#300143 Tags
Red Red List (low evidence)	INTS8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Neurodevelopmental disorder with cerebellar hypoplasia and spasticity (MIM#618572) Tags
Red Red List (low evidence)	IQCB1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Phenotypes Senior-Loken syndrome 5 609254 Tags
Red Red List (low evidence)	IQSEC2	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656 Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347 Tags
Red Red List (low evidence)	IRS4	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Phenotypes Hypothyroidism, congenital, nongoitrous, 9- MIM#301035 Tags
Red Red List (low evidence)	IRX4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Ventricular septal defect Tags
Red Red List (low evidence)	ITCH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Autoimmune disease, multisystem, with facial dysmorphism, MIM#613385 Tags
Red Red List (low evidence)	ITGA7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204 Tags
Red Red List (low evidence)	ITPR1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Spinocerebellar ataxia 15 MIM#606658 Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360 Gillespie syndrome, MIM# 206700 Tags
Red Red List (low evidence)	IYD	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Thyroid dyshormonogenesis 4 - MIM#274800 Tags
Red Red List (low evidence)	KARS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Genomics England PanelApp Phenotypes Leukoencephalopathy with or without deafness (LEPID), MIM#619147 Tags
Red Red List (low evidence)	KBTBD13	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Nemaline myopathy 6, autosomal dominant (MIM#609273) Tags
Red Red List (low evidence)	KCNC3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Spinocerebellar ataxia 13, MIM#605259 Tags
Red Red List (low evidence)	KCNJ10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes SESAME syndrome (MIM#612780) Enlarged vestibular aqueduct, digenic (MIM#600791) Tags
Red Red List (low evidence)	KCNJ6	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Keppen-Lubinsky syndrome, MIM# 614098 MONDO:0013572 Tags
Red Red List (low evidence)	KCNQ2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Developmental and epileptic encephalopathy 7 (MIM#613720) Myokymia (MIM#121200) Seizures, benign neonatal, 1 (MIM#121200) Tags
Red Red List (low evidence)	KCNQ3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Seizures, benign neonatal, 2, MIM# 121201 Tags
Red Red List (low evidence)	KCNQ5	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Mental retardation, autosomal dominant 46, MIM# 617601 Tags
Red Red List (low evidence)	KCNT1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Epilepsy, nocturnal frontal lobe, 5 (MIM#615005) Epileptic encephalopathy, early infantile, 14 (MIM#614959) Tags
Red Red List (low evidence)	KCTD7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726) Tags
Red Red List (low evidence)	KIF26B	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red Phenotypes Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis Tags
Red Red List (low evidence)	KISS1R	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Hypogonadotropic hypogonadism 8 with or without anosmia 614837 Tags
Red Red List (low evidence)	KMT2B	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Dystonia 28, childhood-onset, MIM#617284 Tags
Red Red List (low evidence)	KMT5B	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Genomics England PanelApp Phenotypes Mental retardation, autosomal dominant 51, MIM#617788 Tags
Red Red List (low evidence)	KRT74	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Woolly hair, autosomal dominant (MIM#194300) Tags
Red Red List (low evidence)	L2HGDH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes L-2-hydroxyglutaric aciduria, MIM#236792 Tags
Red Red List (low evidence)	LAMA3	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Epidermolysis bullosa, junctional, Herlitz type (MIM#226700) Tags
Red Red List (low evidence)	LAMA5	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes bent bone dysplasia nephrotic syndrome Presynaptic congenital myasthenic syndrome multisystem syndrome developmental delay Tags
Red Red List (low evidence)	LAMB3	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Epidermolysis bullosa, junctional 226650 Epidermolysis bullosa, junctional 226700 Tags
Red Red List (low evidence)	LAMP2	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genomics England PanelApp Phenotypes Danon disease (MIM#300257) Tags
Red Red List (low evidence)	LDB3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Cardiomyopathy, dilated, 1C, with or without LVNC MIM#601493 Cardiomyopathy, hypertrophic, 24 MIM#601493 Left ventricular noncompaction 3 MIM#601493 Myopathy, myofibrillar, 4 MIM#609452 Tags
Red Red List (low evidence)	LEMD3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Buschke-Ollendorff syndrome MIM#166700 Osteopoikilosis with or without melorheostosis MIM#166700 Tags
Red Red List (low evidence)	LHX3	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Pituitary hormone deficiency, combined, 3 (MIM#221750) Tags
Red Red List (low evidence)	LHX4	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Pituitary hormone deficiency, combined, 4, MIM#262700 Tags
Red Red List (low evidence)	LIAS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Hyperglycinemia, lactic acidosis, and seizures, MIM#614462 Tags
Red Red List (low evidence)	LIPT1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Lipoyltransferase 1 deficiency, MIM#616299 Tags
Red Red List (low evidence)	LIPT2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Genomics England PanelApp Phenotypes Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668 Tags
Red Red List (low evidence)	LMBRD1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Methylmalonic aciduria and homocystinuria, cblF type, MIM# 277380 Tags
Red Red List (low evidence)	LRBA	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Immunodeficiency, common variable, 8, with autoimmunity MIM#614700 Tags
Red Red List (low evidence)	LTBP2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Glaucoma 3, primary congenital, D 613086 Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, MIM# 251750 Tags
Red Red List (low evidence)	LYST	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Chediak-Higashi syndrome, MIM#214500 Tags
Red Red List (low evidence)	MAN1B1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Rafiq syndrome, MIM# 614202 Tags
Red Red List (low evidence)	MAN2B1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Mannosidosis, alpha-, types I and II, MIM# 248500 MONDO:0009561 Tags
Red Red List (low evidence)	MANBA	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Mannosidosis, beta, MIM# 248510 MONDO:0009562 Tags
Red Red List (low evidence)	MAOA	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Brunner syndrome, MIM# 300615 Tags
Red Red List (low evidence)	MAT1A	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency MIM#250850 Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850 Disorders of the metabolism of sulphur amino acids Tags
Red Red List (low evidence)	MCF2	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Red Phenotypes Perisylvian polymicrogyria Tags
Red Red List (low evidence)	MDH2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Developmental and epileptic encephalopathy 51 MIM#617339 Tags
Red Red List (low evidence)	MECP2	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Rett syndrome, MIM# 312750 Encephalopathy, neonatal severe 300673 Tags
Red Red List (low evidence)	MECR	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282 Tags
Red Red List (low evidence)	METTL23	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Mental retardation, autosomal recessive 44 - #615942 Tags
Red Red List (low evidence)	MFRP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Microphthalmia, isolated 5, MIM# 611040 Tags
Red Red List (low evidence)	MMP13	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Metaphyseal anadysplasia 1 (MIM#602111) Metaphyseal dysplasia, Spahr type (MIM#250400) Tags
Red Red List (low evidence)	MORC2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy - MIM#619090 Tags
Red Red List (low evidence)	MPI	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes MPI-CDG, MONDO:0011257 Congenital disorder of glycosylation, type Ib, OMIM:602579 Tags
Red Red List (low evidence)	MPV17	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Genomics England PanelApp Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), OMIM #256810 Tags
Red Red List (low evidence)	MYBPC2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Literature Phenotypes Hydrops Hygroma Fetal akinesia Multiple pterygium Tags
Red Red List (low evidence)	MYL1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Genomics England PanelApp Phenotypes Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414 Congenital myopathy with reduced type 2 muscle fibers, MONDO:0034109 Tags
Red Red List (low evidence)	MYO5A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Griscelli syndrome, type 1 MIM#214450 Tags
Red Red List (low evidence)	MYPN	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Nemaline myopathy 11, autosomal recessive, MIM# 617336 Tags
Red Red List (low evidence)	MYT1L	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Mental retardation, autosomal dominant 39, MIM# 616521 Tags
Red Red List (low evidence)	NAGLU	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920 Tags
Red Red List (low evidence)	NAXE	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy , MIM#617186 Tags
Red Red List (low evidence)	NDUFA1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genomics England PanelApp Phenotypes Mitochondrial complex I deficiency, nuclear type 12 MIM#301020 Tags
Red Red List (low evidence)	NDUFAF2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Mitochondrial complex I deficiency, nuclear type 10, MIM#618233 Tags
Red Red List (low evidence)	NDUFS1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Mitochondrial complex I deficiency, nuclear type 5, MIM# 618226 Tags
Red Red List (low evidence)	NDUFS4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Mitochondrial complex I deficiency, nuclear type 1, 252010 Leigh syndrome, MIM#252010 Tags
Red Red List (low evidence)	NDUFS7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Mitochondrial complex I deficiency, nuclear type 3, MIM#618224 Tags
Red Red List (low evidence)	NDUFS8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Mitochondrial complex I deficiency, nuclear type 2 MIM#618222 Tags
Red Red List (low evidence)	NDUFV1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Mitochondrial complex I deficiency, nuclear type 4 MIM#618225 Tags
Red Red List (low evidence)	NEK10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Ciliary dyskinesia, primary, 44 - MIM#618781 Tags
Red Red List (low evidence)	NEXMIF	1 review 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Mental retardation, X-linked 98 300912 Tags
Red Red List (low evidence)	NFU1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711 Tags
Red Red List (low evidence)	NGLY1	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Congenital disorder of deglycosylation, MIM# 615273 Tags
Red Red List (low evidence)	NHP2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Dyskeratosis congenita, autosomal recessive 2, MIM# 613987 Høyeraal-Hreidarsson syndrome Tags
Red Red List (low evidence)	NKX6-2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, MIM# 617560 MONDO:0033043 Tags
Red Red List (low evidence)	NR2F1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722 Tags
Red Red List (low evidence)	NRXN2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Autism Tags
Red Red List (low evidence)	NT5C3A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Anaemia, haemolytic, due to UMPH1 deficiency, MIM# 266120 Tags
Red Red List (low evidence)	NTRK2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Genomics England PanelApp Phenotypes Obesity, hyperphagia, and developmental delay, MIM# 613886 Developmental and epileptic encephalopathy 58, MIM# 617830 Tags
Red Red List (low evidence)	NUF2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red Phenotypes Syndromic disease, MONDO:0002254 microcephaly short stature bilateral vocal cord paralysis micrognathia atrial septal defect Tags
Red Red List (low evidence)	NUP62	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Striatonigral degeneration, infantile, MIM#271930 Tags
Red Red List (low evidence)	PAICS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Polyhydramnios multiple congenital abnormalities early neonatal death Tags
Red Red List (low evidence)	PAX7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Myopathy, congenital, progressive, with scoliosis, OMIM:618578 Myopathy, congenital, progressive, with scoliosis, MONDO:0032821 Tags
Red Red List (low evidence)	PCYT1A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy, MIM# 608940 Tags
Red Red List (low evidence)	PCYT2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Spastic paraplegia 82, autosomal recessive MIM#618770 Tags
Red Red List (low evidence)	PDE10A	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Dyskinesia, limb and orofacial, infantile-onset, MIM#616921 Striatal degeneration, autosomal dominant, MIM#616922 Tags
Red Red List (low evidence)	PDSS1	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Coenzyme Q10 deficiency, primary, 2 MIM#614651 Tags
Red Red List (low evidence)	PDSS2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Coenzyme Q10 deficiency, primary, 3 MIM#614652 Tags
Red Red List (low evidence)	PEPD	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Prolidase deficiency, OMIM #170100 Tags
Red Red List (low evidence)	PFKM	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Glycogen storage disease VII, OMIM:232800 Glycogen storage disease VII, MONDO:0009295 Tags
Red Red List (low evidence)	PHC1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Microcephaly 11, primary, autosomal recessive, MIM#615414 Tags
Red Red List (low evidence)	PHF6	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genomics England PanelApp Phenotypes Borjeson-Forssman-Lehmann syndrome, OMIM # 301900 Tags
Red Red List (low evidence)	PHIP	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Genomics England PanelApp Phenotypes Chung-Jansen syndrome, MIM#617991 Tags
Red Red List (low evidence)	PLCB1	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Epileptic encephalopathy, early infantile, 12 (MIM#613722) Tags
Red Red List (low evidence)	PLEKHM1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Osteopetrosis, autosomal recessive 6 - MIM#611497 Osteopetrosis, autosomal dominant 3 - MIM#618107 Tags
Red Red List (low evidence)	PLP1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genomics England PanelApp Phenotypes Pelizaeus-Merzbacher disease MIM#312080 Spastic paraplegia 2, X-linked MIM#312920 Tags
Red Red List (low evidence)	POLG2	2 reviews 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Mitochondrial DNA depletion syndrome 16 (hepatic type), OMIM:618528 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MONDO:0012415 Mitochondrial DNA depletion syndrome 16 (hepatic type), MONDO:0032799 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131 Tags
Red Red List (low evidence)	POLR3B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, OMIM:614381 Tags
Red Red List (low evidence)	PPA2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Sudden cardiac failure, alcohol-induced, 617223 Sudden cardiac failure, infantile, 617222 Tags
Red Red List (low evidence)	PPM1D	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Jansen de Vries syndrome (MIM #617450) Tags
Red Red List (low evidence)	PPT1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Ceroid lipofuscinosis, neuronal, 1, MIM# 256730 MONDO:0009744 Tags
Red Red List (low evidence)	PROP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Pituitary hormone deficiency, combined, 2- #262600 Tags
Red Red List (low evidence)	PRRT2	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Convulsions, familial infantile, with paroxysmal choreoathetosis, MIM# 602066 Episodic kinesigenic dyskinesia 1, MIM# 128200 Seizures, benign familial infantile, 2, MIM# 605751 intellectual disability, autosomal recessive Tags
Red Red List (low evidence)	PRSS12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Intellectual disability, PRSS12 related MIM#249500 Tags
Red Red List (low evidence)	PSMB8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Proteasome-associated autoinflammatory syndrome 1, MIM# 256040 MONDO:0054698 Tags
Red Red List (low evidence)	PTCHD1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genomics England PanelApp Phenotypes intellectual disability MIM#300830 Tags
Red Red List (low evidence)	PTH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Hypoparathyroidism, familial isolated 1, MIM# 146200 Tags
Red Red List (low evidence)	PYCR2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Leukodystrophy, hypomyelinating, 10, MIM# 616420 Tags
Red Red List (low evidence)	PYGM	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Glycogen storage disease V, MONDO:0009293 McArdle disease, OMIM:232600 Tags
Red Red List (low evidence)	PYROXD1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Myopathy, myofibrillar, 8 (MIM#617258) Tags
Red Red List (low evidence)	RAB11A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Literature Phenotypes Epilepsy and intellectual disability Tags
Red Red List (low evidence)	RAB33B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Smith-McCort dysplasia 2, OMIM:615222 Smith-McCort dysplasia 2, MONDO:0014087 Tags
Red Red List (low evidence)	RAB39B	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genomics England PanelApp Phenotypes Intellectual developmental disorder, X-linked 72 MIM#300271 Waisman syndrome MIM#311510 Tags
Red Red List (low evidence)	RASGRP2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Bleeding disorder, platelet-type, 18 - MIM#615888 Tags
Red Red List (low evidence)	RFWD3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Fanconi anaemia, complementation group W, OMIM:617784 Tags
Red Red List (low evidence)	RPH3A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Congenital myasthenic syndrome Tags
Red Red List (low evidence)	RRM2B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075 Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075 Tags
Red Red List (low evidence)	RSPH1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Ciliary dyskinesia, primary, 24 (MIM#615481) Tags
Red Red List (low evidence)	RSPH3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Ciliary dyskinesia, primary, 32 (MIM#616481) Tags
Red Red List (low evidence)	RSPH4A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Ciliary dyskinesia, primary 612649 Tags
Red Red List (low evidence)	RSPH9	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Ciliary dyskinesia, primary, MIM# 612650 Tags
Red Red List (low evidence)	SACS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550 Tags
Red Red List (low evidence)	SCN1B	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Epileptic encephalopathy, early infantile, 52, MIM#617350 Atrial fibrillation, familial, 13, MIM# 615377 Tags
Red Red List (low evidence)	SCN7A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Literature Phenotypes Holoprosencephaly Tags
Red Red List (low evidence)	SCN8A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Genomics England PanelApp Phenotypes Developmental and epileptic encephalopathy 13, MIM#614558, dominant and recessive Myoclonus, familial, 2, MIM# 618364 paroxysmal kinesigenic dyskinesias Cognitive impairment with or without cerebellar ataxia, MIM# 614306 Tags
Red Red List (low evidence)	SCO1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048 Tags
Red Red List (low evidence)	SCYL1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Spinocerebellar ataxia, autosomal recessive 21, MIM# 616719 Tags
Red Red List (low evidence)	SDHAF1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166 Tags
Red Red List (low evidence)	SECISBP2	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Literature Phenotypes Thyroid hormone metabolism, abnormal, MIM# 609698 Tags
Red Red List (low evidence)	SELENON	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Myopathy, congenital, with fiber-type disproportion 255310 Muscular dystrophy, rigid spine 602771 Tags
Red Red List (low evidence)	SEPT9	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Amyotrophy, hereditary neuralgic, MIM# 162100 Tags
Red Red List (low evidence)	SERPINA11	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes pericardial effusion pleural effusion Tags
Red Red List (low evidence)	SERPINF1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Osteogenesis imperfecta, type VI, OMIM:613982 Osteogenesis imperfecta type 6, MONDO:0013515 Tags
Red Red List (low evidence)	SET	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Genomics England PanelApp Phenotypes Mental retardation, autosomal dominant 58, MIM# 618106 Tags
Red Red List (low evidence)	SETD1A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Literature Phenotypes Epilepsy, early-onset, with or without developmental delay, MIM# 618832 Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056 Tags
Red Red List (low evidence)	SGCA	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Muscular dystrophy, limb-girdle, type 2D 608099 Tags
Red Red List (low evidence)	SGCG	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Autosomal recessive limb-girdle muscular dystrophy type 2C, MONDO:0009677 Muscular dystrophy, limb-girdle, autosomal recessive 5, OMIM:253700 Tags
Red Red List (low evidence)	SGMS2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia - MIM#126550 Tags
Red Red List (low evidence)	SGSH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900 MONDO:0009655 Tags
Red Red List (low evidence)	SHANK1	3 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Neurodevelopmental disorder, MONDO:0700092, SHANK1-related Tags
Red Red List (low evidence)	SHANK2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Genomics England PanelApp Phenotypes {Autism susceptibility 17}, MIM# 613436 Tags
Red Red List (low evidence)	SHANK3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Phelan-McDermid syndrome, MONDO:0011652 Phelan-McDermid syndrome, OMIM:606232 Tags
Red Red List (low evidence)	SIK1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Developmental and epileptic encephalopathy 30 (MIM#616341) Tags
Red Red List (low evidence)	SIM1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Severe obesity with neurobehavioral features Tags
Red Red List (low evidence)	SIX1	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Deafness, autosomal dominant 23 (MIM# 605192) Branchiootic syndrome 3 (MIM# 608389) Tags
Red Red List (low evidence)	SIX5	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Genomics England PanelApp Phenotypes Branchiootorenal syndrome 2, MIM#610896 Tags disputed
Red Red List (low evidence)	SLC19A3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) (MIM#607483) Tags
Red Red List (low evidence)	SLC1A2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Genomics England PanelApp Phenotypes Developmental and epileptic encephalopathy 41, MIM# 617105 Tags
Red Red List (low evidence)	SLC22A5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Carnitine deficiency, systemic primary, MIM#212140 Tags
Red Red List (low evidence)	SLC25A1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Myasthenic syndrome, congenital, 23, presynaptic MIM#618197 Combined D-2- and L-2-hydroxyglutaric aciduria MIM#615182 Tags
Red Red List (low evidence)	SLC25A19	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Microcephaly, Amish type, OMIM:607196 Amish lethal microcephaly, MONDO:0011790 Tags
Red Red List (low evidence)	SLC26A4	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Pendred syndrome - MIM#274600 Tags
Red Red List (low evidence)	SLC26A7	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Thyroid dyshormogenesis - no OMIM gene disease association Tags
Red Red List (low evidence)	SLC2A1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes GLUT1 deficiency syndrome 1, infantile onset, severe, MIM# 606777 Tags
Red Red List (low evidence)	SLC2A2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Fanconi-Bickel syndrome, MIM# 227810 Tags
Red Red List (low evidence)	SLC39A13	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Ehlers-Danlos syndrome, spondylodysplastic type, 3 (MIM#612350) Tags
Red Red List (low evidence)	SLC45A1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Intellectual developmental disorder with neuropsychiatric features, MIM# 617532 Tags
Red Red List (low evidence)	SLC46A1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Folate malabsorption, hereditary, MIM# 229050 Tags
Red Red List (low evidence)	SLC4A4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Renal tubular acidosis, proximal, with ocular abnormalities (MIM#604278) Tags
Red Red List (low evidence)	SLC52A2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Brown-Vialetto-Van Laere syndrome 2 (MIM#614707) Tags
Red Red List (low evidence)	SLC52A3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Brown-Vialetto-Van Laere syndrome 1 (MIM#211530) Tags
Red Red List (low evidence)	SLC6A17	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Mental retardation, autosomal recessive 48, MIM# 616269 Tags
Red Red List (low evidence)	SLC9A6	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Mental retardation, X-linked syndromic, Christianson type, MIM# 300243 MONDO:0010278 Tags
Red Red List (low evidence)	SMS	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genomics England PanelApp Phenotypes Mental retardation, X-linked, Snyder-Robinson type, OMIM:309583 Syndromic X-linked intellectual disability Snyder type, MONDO:0010664 Tags
Red Red List (low evidence)	SNRPE	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Literature Phenotypes Hypotrichosis 11, MIM #615059 Tags
Red Red List (low evidence)	SNX10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Osteopetrosis, autosomal recessive 8, OMIM:615085 Autosomal recessive osteopetrosis 8, MONDO:0014040 Tags
Red Red List (low evidence)	SOX17	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Vesicoureteral reflux 3 MIM#613674 Pulmonary arterial hypertension Tags
Red Red List (low evidence)	SOX5	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Lamb-Shaffer syndrome, MIM#616803 Tags
Red Red List (low evidence)	SP110	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Hepatic venoocclusive disease with immunodeficiency 235550 Tags
Red Red List (low evidence)	SP7	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Osteogenesis imperfecta type 12, MONDO:0013460 Osteogenesis imperfecta, type XII, OMIM:613849 Tags
Red Red List (low evidence)	SPARC	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Osteogenesis imperfecta, type XVII, OMIM:616507 Osteogenesis imperfecta type 17, MONDO:0014672 Tags
Red Red List (low evidence)	SPEF2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Spermatogenic failure 43, MIM#618751 Primary ciliary dyskinesia-like phenotype Tags
Red Red List (low evidence)	SPRED1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Legius syndrome, MIM# 611431 Tags
Red Red List (low evidence)	SPTAN1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Developmental and epileptic encephalopathy 5, MIM# 613477 Tags
Red Red List (low evidence)	SPTBN2	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Spinocerebellar ataxia 5 (MIM#600224) Spinocerebellar ataxia, autosomal recessive 14 (MIM#615386) Tags
Red Red List (low evidence)	SPTBN5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Sacral agenesis Multicystic kidney Oligohydramnios Tags
Red Red List (low evidence)	SRP54	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Genomics England PanelApp Phenotypes Neutropenia, severe congenital, 8, autosomal dominant, MIM# 618752 Tags
Red Red List (low evidence)	ST3GAL3	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 12 MIM# 611090 Developmental and epileptic encephalopathy 15, MIM# 615006 Tags
Red Red List (low evidence)	ST3GAL5	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Genomics England PanelApp Phenotypes Salt and pepper developmental regression syndrome OMIM #609056 Tags
Red Red List (low evidence)	STAG1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 47, MIM# 617635 Tags
Red Red List (low evidence)	STX1B	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Genomics England PanelApp Phenotypes Generalized epilepsy with febrile seizures plus, type 9, MIM# 616172 Tags
Red Red List (low evidence)	STXBP1	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Developmental and epileptic encephalopathy 4 (MIM#612164) Tags
Red Red List (low evidence)	SURF1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Mitochondrial complex IV deficiency, nuclear type 1 (MIM#220110) Tags
Red Red List (low evidence)	SYN1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genomics England PanelApp Phenotypes Epilepsy, X-linked, with variable learning disabilities and behaviour disorders, MIM# 300491 Intellectual developmental disorder, X-linked 50, MIM# 300115 Tags
Red Red List (low evidence)	SYNCRIP	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red Phenotypes SYNCRIP-related neurodevelopmental disorder Tags
Red Red List (low evidence)	SYNGAP1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Intellectual disability, autosomal dominant 5 (MIM # 612621) Tags
Red Red List (low evidence)	SYP	2 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genomics England PanelApp Phenotypes Intellectual developmental disorder, X-linked 96 (MIM#300802) Tags
Red Red List (low evidence)	TAC3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Hypogonadotropic hypogonadism 10 with or without anosmia , MIM#614839 Tags
Red Red List (low evidence)	TACO1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Genomics England PanelApp Phenotypes Mitochondrial complex IV deficiency, OMIM #220110 Tags
Red Red List (low evidence)	TANGO2	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MIM#616878) Tags
Red Red List (low evidence)	TBL1X	2 reviews 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Literature Phenotypes Hypothyroidism, congenital, nongoitrous, 8 - MIM#301033 Tags
Red Red List (low evidence)	TBXAS1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Ghosal haematodiaphyseal syndrome (MIM#231095) Tags
Red Red List (low evidence)	TCF20	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes TCF20 syndrome Developmental delay with variable intellectual impairment and behavioral abnormalities 618430 Tags
Red Red List (low evidence)	TCN2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Transcobalamin II deficiency, 275350 Tags
Red Red List (low evidence)	TEK	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Genomics England PanelApp Phenotypes Glaucoma 3, primary congenital, E (MIM#617272) Venous malformations, multiple cutaneous and mucosal (MIM#600195) Tags
Red Red List (low evidence)	TGFB1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Genomics England PanelApp Phenotypes Inflammatory bowel disease, immunodeficiency, and encephalopathy, MIM# 618213 Tags
Red Red List (low evidence)	TIMM8A	2 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Red Genomics England PanelApp Phenotypes Mohr-Tranebjaerg syndrome, MIM# 304700 Tags
Red Red List (low evidence)	TK2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type) (MIM#609560) Tags
Red Red List (low evidence)	TMEM53	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Craniotubular dysplasia, Ikegawa type - MIM#619727 Tags
Red Red List (low evidence)	TNXB	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Vesicoureteral reflux 8 615963 Ehlers-Danlos syndrome due to tenascin X deficiency 606408 Tags
Red Red List (low evidence)	TOGARAM1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Literature Phenotypes Cerebral dysgenesis Cleft of the lip and palate Hydrocephalus Microphthalmia Tags
Red Red List (low evidence)	TRIM32	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Phenotypes Bardet-Biedl syndrome 11, MIM# 615988 Muscular dystrophy, limb-girdle, autosomal recessive 8, MIM# 254110 Tags
Red Red List (low evidence)	TRIP12	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Mental retardation autosomal dominant 49, Clark-Baraitser Syndrome, MIM#617752 Tags
Red Red List (low evidence)	TRPS1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Trichorhinophalangeal syndrome, type I, OMIM #190350 Trichorhinophalangeal syndrome, type III, OMIM #190351 Tags
Red Red List (low evidence)	TRPV3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Genomics England PanelApp Phenotypes Olmsted syndrome 1, MIM# 614594 Tags
Red Red List (low evidence)	TSEN34	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Pontocerebellar hypoplasia type 2C, MIM# 612390 Tags
Red Red List (low evidence)	TSPAN7	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genomics England PanelApp Phenotypes Intellectual developmental disorder, X-linked 58, MIM# 300210 Tags
Red Red List (low evidence)	TTC12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Ciliary dyskinesia, primary, 45 - MIM#618801 Tags
Red Red List (low evidence)	TTC19	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Mitochondrial complex III deficiency, nuclear type 2 (MIM#615157) Tags
Red Red List (low evidence)	TTC37	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Trichohepatoenteric syndrome 1, MIM# 222470 Tags
Red Red List (low evidence)	TUBA8	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180 Tags
Red Red List (low evidence)	TUSC3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Mental retardation, autosomal recessive 7, MIM# 611093, MONDO:0012615 TUSC3-CDG (Disorders of protein N-glycosylation) Tags
Red Red List (low evidence)	UBA5	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Literature Phenotypes Epileptic encephalopathy, early infantile, 44 (MIM#617132) Tags
Red Red List (low evidence)	UBE2A	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genomics England PanelApp Phenotypes Mental retardation, X-linked syndromic, Nascimento-type (MIM#300860) Tags
Red Red List (low evidence)	UBE3A	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Red Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Angelman syndrome MIM#105830 Tags
Red Red List (low evidence)	UBTF	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672 MONDO:0044701 Tags
Red Red List (low evidence)	UFC1	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Genomics England PanelApp Literature Phenotypes Neurodevelopmental disorder with spasticity and poor growth (MIM#618076) Tags
Red Red List (low evidence)	UFM1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Genomics England PanelApp Literature Phenotypes Leukodystrophy, hypomyelinating, 14 MIM#617899 Tags
Red Red List (low evidence)	UNC13A	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Congenital myasthenia dyskinesia autism developmental delay Tags
Red Red List (low evidence)	UPF3B	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Mental retardation, X-linked, syndromic 14, MIM# 300676 Tags
Red Red List (low evidence)	UQCRB	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Genomics England PanelApp Phenotypes Mitochondrial complex III deficiency, nuclear type 3, MIM #615158 Tags
Red Red List (low evidence)	UQCRQ	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Genomics England PanelApp Phenotypes Mitochondrial complex III deficiency, nuclear type 4, MIM #615159 Tags
Red Red List (low evidence)	UROC1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Urocanase deficiency, MIM#276880 Tags
Red Red List (low evidence)	USP27X	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Red Genomics England PanelApp Phenotypes Mental retardation, X-linked 105, MIM#300984 Tags
Red Red List (low evidence)	VDR	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Rickets, vitamin D-resistant, type IIA, MIM# 277440 Tags
Red Red List (low evidence)	WAC	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Desanto-Shinawi syndrome, MIM# 616708 Tags
Red Red List (low evidence)	WDR45	1 review 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Genomics England PanelApp Phenotypes Neurodegeneration with brain iron accumulation 5, MIM# 300894 Rett syndrome Rett-like phenotypes Tags
Red Red List (low evidence)	WNT3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Tetra-amelia syndrome 1, OMIM #273395 Tags
Red Red List (low evidence)	WRAP53	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Genomics England PanelApp Phenotypes Dyskeratosis congenita, autosomal recessive 3, OMIM #613988 Tags
Red Red List (low evidence)	XPA	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Genomics England PanelApp Phenotypes Xeroderma pigmentosum, group A, OMIM# 278700 Tags
Red Red List (low evidence)	XPC	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Xeroderma pigmentosum, group C, MIM# 278720 MONDO:0010211 Tags
Red Red List (low evidence)	YWHAG	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Developmental and epileptic encephalopathy 56, (MIMI#617665) Tags
Red Red List (low evidence)	ZFYVE26	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Spastic paraplegia 15, autosomal recessive MIM#270700 Tags
Red Red List (low evidence)	ZMYND11	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Genomics England PanelApp Phenotypes Mental retardation, autosomal dominant 30, MIM# 616083 Tags
Red Red List (low evidence)	ZNF3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Literature Phenotypes Hydrocephaly Facial cleft Tags
Red Red List (low evidence)	ZNF711	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genomics England PanelApp Phenotypes Mental retardation, X-linked 97, OMIM #300803 Tags
No list No list	ODC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Bachmann-Bupp syndrome (MIM#619075) Tags

Major version comments

2022-03-03 06:06 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
Fully reviewed and promoted to V1.

Fetal anomalies (Version 1.255)

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