Intellectual disability syndromic and non-syndromic (Version 0.6063)

Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: Intellectual disability, HP:0001249; Neurodevelopmental delay, HP:0012758
Panel types: Victorian Clinical Genetics Services, Genetic Health Queensland, Royal Melbourne Hospital, Rare Disease

Description

This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.

This is a consensus panel used by VCGS, GHQ and RMH.

This panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.

Panel Activity

103 reviewers

Kristin Rigbye (Victorian Clinical Genetics Services)
Andrew Fennell (Monash Genetics)
Elizabeth Palmer (University of New South Wales)
Belinda Chong (Victorian Clinical Genetics Services)
Natasha Brown (Victorian Clinical Genetics Services)
Sebastian Lunke (Victorian Clinical Genetics Services)
Chris Richmond (Genetic Health Queensland)
Sue White (Victorian Clinical Genetics Services)
Tiong Tan (Victorian Clinical Genetics Services)
Abhijit Kulkarni (Monash Genetics)
Alison Yeung (Victorian Clinical Genetics Services)
Lauren Rogers (Victorian Clinical Genetics Services)
Anna Le Fevre (Victorian Clinical Genetics Services)
Konstantinos Varvagiannis (Other)
Paul De Fazio (Victorian Clinical Genetics Services)
Vivian WEI (Victorian Clinical Genetics Services)
Kaitlyn Dianna Weldon (University of Melbourne)
Sarah Pantaleo (Victorian Clinical Genetics Services)
Mark Williams (Other)
Arina Puzriakova (Genomics England)
Laura Raiti (Royal Children's Hospital, Melbourne)
Danielle Ariti (University of Melbourne)
Lorraine Skalicka (Genomic Diagnostics, Healius)
Shannon Nicolson (University of Melbourne Centre for Cancer Research)
Belinda Chong (Victorian Clinical Genetics Services)
Manny Jacobs (Victorian Clinical Genetics Services)
Ken Lee Wan (Genomic Diagnostics, Healius)
Savige Judy (University of Melbourne)
Deepak Subramanian (Peter MacCallum Cancer Centre)
Christa Whelan (Genomic Diagnostics)
Mitchell O'Brien (CSIRO)
Renee Crooks (Other)
Lloyd Pereira (Peter MacCallum Cancer Centre)
Philip Adam Harraka (University of Melbourne)
Nicolle Hua (University of Melbourne)
Nicholas Clark (Other)
Sindhu V (Other)
Liyan Song (Monash Health)
Layla Zhu (Melbourne University, Centre for Cancer Research)
Michelle Dang (University of Melbourne)
Jacqueline Montgomery (University of Melbourne)
Lyndon Gallacher (Victorian Clinical Genetics Services)
Ben Lundie (Queensland Pathology)
Jessica Wright (Genomic Diagnostics, Healius)
Sarah Leigh (Genomics England)
Rylee Peters (Victorian Clinical Genetics Services)
Mark Cleghorn (Royal Melbourne Hospital)
Caleb Cartagena (Monash University)
Gemma O'Farrell (Victorian Clinical Genetics Services)
Katie Thompson (Other)
Ibrahim El-Deek (Other)
Teresa Zhao (Victorian Clinical Genetics Services)
Lisa Norbart (Victorian Clinical Genetics Services)
Chirag Patel (Genetic Health Queensland)
Anna Ritchie (Victorian Clinical Genetics Services)
David Fairbairn (Other)
Achchuthan Shanmugasundram (Genomics England)
Yetong Chen (University of Melbourne)
Yixin JIANG (University of Melbourne)
Lovepreet Gill (Other)
Rajkumar Krishnaswamy (Other)
Ain Roesley (Victorian Clinical Genetics Services)
Aaron Meyers (University of Melbourne)
Krithika Murali (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Suliman Khan (Victorian Clinical Genetics Services)
Amy Chiang (Other)
Lucy Spencer (Victorian Clinical Genetics Services)
Hazel Phillimore (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)
Claire Fryer-Smith (University of Melbourne)
Naomi Baker (Victorian Clinical Genetics Services)
Sangavi Sivagnanasundram (Melbourne Health)
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)
Hali Van Niel (University of Melbourne)
Chris Ciotta (Victorian Clinical Genetics Services)
Michelle Torres (Victorian Clinical Genetics Services)
Chern Lim (Victorian Clinical Genetics Services)
James The (Monash University)
Adam Ivey (The Alfred Hospital)
sabitha sateesh (Other)
Gunjan Garg (Other)
Tinashe Nhindiri (Other)
Alyson Lewis (Other)
Laura Mazurkijevic (Other)
Hnin Aung (Other)
Raluca Rusu (Other)
Leanne Baxter (Other)
Shani Stuart (Other)
Kirsty Choi (University of Melbourne)
Santosh Varughese (University of Melbourne)
Reetoo Ramessur (Other)
Tashunka Taylor-Miller (Victorian Clinical Genetics Services)
Jane Lin (The Alfred Hospital)
Bryony Thompson (Royal Melbourne Hospital)
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

2281 Entities

2061 reviewed, 1621 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 2281 Entitiess
Green Green List (high evidence)	AAAS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Achalasia-addisonianism-alacrimia syndrome, MIM#231550 Tags
Green Green List (high evidence)	AARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Epileptic encephalopathy, early infantile, 29, MIM# 616339 Tags
Green Green List (high evidence)	ABAT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes GABA-transaminase deficiency, MIM#613163 Tags
Green Green List (high evidence)	ABCA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with poor growth and with or without seizures or ataxia, 618808 Tags
Green Green List (high evidence)	ABCC9	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual disability and myopathy syndrome, MIM# 619719 Hypertrichotic osteochondrodysplasia, MIM# 239850 Cantu syndrome Tags
Green Green List (high evidence)	ABCD1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Adrenoleukodystrophy, MIM# 300100 Tags
Green Green List (high evidence)	ABCD4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Methylmalonic aciduria and homocystinuria, cblJ type, MIM# 614857 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 Intellectual Disability Corpus callosum abnormalities Tags
Green Green List (high evidence)	ABHD5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Chanarin-Dorfman syndrome MIM#275630 neutral lipid storage disease with ichthyosis non-bullous congenital ichthyosiform erythroderma Tags
Green Green List (high evidence)	ACAD9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mitochondrial complex I deficiency, nuclear type 20 MIM#611126 Tags treatable
Green Green List (high evidence)	ACADM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450 Tags treatable
Green Green List (high evidence)	ACBD6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with progressive movement abnormalities, MIM# 620785 Tags
Green Green List (high evidence)	ACO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Infantile cerebellar-retinal degeneration, MIM#614559 Tags
Green Green List (high evidence)	ACOX1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470 Mitchell syndrome, MIM# 618960 Tags
Green Green List (high evidence)	ACSL4	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 Genetic Health Queensland Phenotypes Mental retardation, X-linked 63, MIM# 300387 XLD Tags
Green Green List (high evidence)	ACTB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Baraitser-Winter syndrome 1, MIM# 243310 Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475 ACTB-related neurodevelopment disorder Tags
Green Green List (high evidence)	ACTG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Baraitser-Winter syndrome 2, MIM#614583 Tags
Green Green List (high evidence)	ACTL6A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder, MONDO:0700092, ACTL6A-related Tags
Green Green List (high evidence)	ACTL6B	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 76, MIM# 618468 Intellectual developmental disorder with severe speech and ambulation defects, MIM# 618470 Tags
Green Green List (high evidence)	ACY1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Aminoacylase 1 deficiency, MIM# 609924 Tags
Green Green List (high evidence)	ADAM22	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Developmental and epileptic encephalopathy 61 (MIM#617933) Tags
Green Green List (high evidence)	ADAMTS10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Weill-Marchesani syndrome 1, recessive, MIM#277600 Tags
Green Green List (high evidence)	ADAR	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Aicardi-Goutieres syndrome 6, MIM# 615010 Tags
Green Green List (high evidence)	ADARB1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862 Intellectual disability microcephaly seizures Tags
Green Green List (high evidence)	ADAT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal recessive 36, MIM#615286 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 Green Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, ADD1-related Intellectual disability, corpus callosum dysgenesis, and ventriculomegaly no OMIM # Tags
Green Green List (high evidence)	ADD3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Cerebral palsy, spastic quadriplegic, 3, MIM#617008 Tags
Green Green List (high evidence)	ADGRG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Polymicrogyria, bilateral frontoparietal, MIM# 606854 Tags 5'UTR
Green Green List (high evidence)	ADGRL1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, MIM# 620065 Tags
Green Green List (high evidence)	ADK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300 Tags
Green Green List (high evidence)	ADNP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland 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 Genetic Health Queensland Phenotypes Adenylosuccinase deficiency, MIM# 103050 Tags
Green Green List (high evidence)	AFF2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual disability, X-linked, FRAXE type 309548 Tags
Green Green List (high evidence)	AFF3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland 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 Phenotypes CHOPS syndrome, MIM#616368 MONDO:0014609 Tags
Green Green List (high evidence)	AGA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Aspartylglucosaminuria, MIM#208400 Tags
Green Green List (high evidence)	AGMO	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, AGMO-related Tags
Green Green List (high evidence)	AGO1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, MIM# 620292 Tags
Green Green List (high evidence)	AGO2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Lessel-Kreienkamp syndrome (LESKRES), MIM#619149 Intellectual disability Tags
Green Green List (high evidence)	AGTPBP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276 Tags
Green Green List (high evidence)	AHCY	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752 Tags treatable
Green Green List (high evidence)	AHDC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland 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	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Joubert Syndrome 3 OMIM #608629 Tags
Green Green List (high evidence)	AIFM1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Combined oxidative phosphorylation deficiency 6, 300816 Cowchock syndrome, 310490 Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232 Tags
Green Green List (high evidence)	AIMP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual disability Leukodystrophy, hypomyelinating, 3, MIM# 260600 Tags
Green Green List (high evidence)	AKT3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937 Tags
Green Green List (high evidence)	ALDH18A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Spastic paraplegia 9B, autosomal recessive, MIM# 616586 Tags
Green Green List (high evidence)	ALDH3A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Sjogren-Larsson syndrome MIM#270200 spasticity ichthyosis intellectual disability Tags
Green Green List (high evidence)	ALDH4A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Hyperprolinemia, type II MIM#239510 disorders of ornithine or proline metabolism Tags
Green Green List (high evidence)	ALDH5A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 Tags
Green Green List (high evidence)	ALDH7A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Epilepsy, pyridoxine-dependent, MIM# 266100 Tags treatable
Green Green List (high evidence)	ALG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Congenital disorder of glycosylation, type Ik, MIM# 608540 Tags
Green Green List (high evidence)	ALG11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Congenital disorder of glycosylation, type Ip, MIM# 613661 Tags
Green Green List (high evidence)	ALG12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Congenital disorder of glycosylation, type Ig, MIM# 607143 Tags
Green Green List (high evidence)	ALG13	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 Phenotypes Congenital disorder of glycosylation, type Is (MIM# 300884) Tags
Green Green List (high evidence)	ALG14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031 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 Phenotypes Congenital disorder of glycosylation, type Id, MIM# 601110 Tags
Green Green List (high evidence)	ALG6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Congenital disorder of glycosylation, type Ic (MIM#603147) Tags
Green Green List (high evidence)	ALG8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland 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 Phenotypes Congenital disorder of glycosylation, type Il, MIM#608776 Tags
Green Green List (high evidence)	ALKBH8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal recessive 71, MIM#618504 Tags
Green Green List (high evidence)	ALMS1	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Alstrom syndrome, MIM# 203800 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 Genetic Health Queensland Phenotypes Osteopathia striata with cranial sclerosis, OMIM: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 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 Genetic Health Queensland Phenotypes Glycine encephalopathy MIM#605899 Tags
Green Green List (high evidence)	ANK2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Complex neurodevelopmental disorder, MONDO:0100038 Tags
Green Green List (high evidence)	ANK3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal recessive, 37 615493 Intellectual disability, autosomal dominant Tags
Green Green List (high evidence)	ANKRD11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes KBG syndrome, MIM # 148050 Tags
Green Green List (high evidence)	ANKRD17	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Research Phenotypes Chopra-Amiel-Gordan syndrome, MIM# 619504 Intellectual disability dysmorphic features Tags
Green Green List (high evidence)	ANO4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO:0700092, ANO4-related Tags
Green Green List (high evidence)	AP1B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability enteropathy deafness ichthyosis keratoderma Tags
Green Green List (high evidence)	AP1G1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Usmani-Riazuddin syndrome, autosomal dominant, MIM# 619467 Usmani-Riazuddin syndrome, autosomal recessive, MIM# 619548 Neurodevelopmental disorder (NDD) Intellectual Disability Epilepsy Tags
Green Green List (high evidence)	AP1S1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes MEDNIK syndrome, MIM# 609313 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 Genetic Health Queensland Phenotypes Pettigrew syndrome, MIM# 304340 Tags
Green Green List (high evidence)	AP2M1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Intellectual developmental disorder 60 with seizures, MIM# 618587 Tags
Green Green List (high evidence)	AP3B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Hermansky-Pudlak syndrome 2, MIM# 608233 MONDO:0011997 Tags clinical trial treatable
Green Green List (high evidence)	AP3B2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Early-onset epileptic encephalopathy with optic atrophy, MIM#617276 Tags
Green Green List (high evidence)	AP4B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Spastic paraplegia 47, autosomal recessive, MIM# 614066 Tags
Green Green List (high evidence)	AP4E1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Spastic paraplegia 51, autosomal recessive, MIM# 613744 Tags
Green Green List (high evidence)	AP4M1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Spastic paraplegia 50, autosomal recessive, MIM# 612936 Tags
Green Green List (high evidence)	AP4S1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Spastic paraplegia 52, autosomal recessive, MIM# 614067 Tags
Green Green List (high evidence)	APC2	1 review 1 green	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)	APOPT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mitochondrial complex IV deficiency, nuclear type 17, MIM#619061 Tags
Green Green List (high evidence)	ARCN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164) Tags
Green Green List (high evidence)	ARF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Periventricular nodular heterotopia 8, MIM# 618185 Tags
Green Green List (high evidence)	ARF3	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO:0700092), ARF3-related Global developmental delay Intellectual disability Seizures Morphological abnormality of the central nervous system Tags
Green Green List (high evidence)	ARFGEF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental delay, impaired speech, and behavioral abnormalities, MIM# 619964 Tags
Green Green List (high evidence)	ARFGEF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Periventricular heterotopia with microcephaly (MIM#608097) Tags
Green Green List (high evidence)	ARG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Argininaemia MIM#207800 Tags treatable
Green Green List (high evidence)	ARHGAP35	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder, ARHGAP35-related MONDO#0700092 Tags
Green Green List (high evidence)	ARHGEF9	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 Phenotypes Developmental and epileptic encephalopathy 8, MIM# 300607 Tags
Green Green List (high evidence)	ARID1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Coffin-Siris syndrome 2 (MIM#614607) Tags
Green Green List (high evidence)	ARID1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland 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 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 Genetic Health Queensland Phenotypes Joubert syndrome 8, MIM# 612291 Tags
Green Green List (high evidence)	ARL6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Bardet-Biedl syndrome 3, MIM# 600151 Tags
Green Green List (high evidence)	ARMC9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Joubert syndrome 30, MIM# 617622 Tags
Green Green List (high evidence)	ARPC4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental delay, language impairment, and ocular abnormalities, MIM# 620141 Tags
Green Green List (high evidence)	ARSA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Metachromatic leukodystrophy, MIM# 250100 Tags clinical trial treatable
Green Green List (high evidence)	ARSB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200 MONDO:0009661 Tags clinical trial treatable
Green Green List (high evidence)	ARSE	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Chondrodysplasia punctata, X-linked recessive, MIM# 302950 Tags new gene name
Green Green List (high evidence)	ARV1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Developmental and epileptic encephalopathy 38, MIM# 617020 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 Genetic Health Queensland Phenotypes 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 Genetic Health Queensland Phenotypes Farber lipogranulomatosis MIM #228000 Tags
Green Green List (high evidence)	ASCC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Intellectual developmental disorder, autosomal recessive 81, MIM# 620700 Tags
Green Green List (high evidence)	ASH1L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Mental retardation, autosomal dominant 52, MIM#617796 Tags
Green Green List (high evidence)	ASL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Argininosuccinic aciduria, MIM#207900 Tags treatable
Green Green List (high evidence)	ASNS	1 review 1 green	Unknown	Sources Expert Review Green Genetic Health Queensland 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 Genetic Health Queensland 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 Phenotypes Microcephaly 5, primary, autosomal recessive, MIM#608716 Tags
Green Green List (high evidence)	ASS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Citrullinemia MIM#215700 Tags treatable
Green Green List (high evidence)	ASTN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Tags
Green Green List (high evidence)	ASXL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Bohring-Opitz syndrome , MIM#605039 Tags
Green Green List (high evidence)	ASXL2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Shashi-Pena syndrome, MIM# 617190 Tags
Green Green List (high evidence)	ASXL3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Bainbridge-Ropers syndrome (OMIM # 615485) Tags
Green Green List (high evidence)	ATAD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hyperekplexia 4, MIM#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 Phenotypes Harel-Yoon syndrome, MIM# 617183 Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME) 618810 Tags SV/CNV
Green Green List (high evidence)	ATG4D	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, ATG4D-related Tags
Green Green List (high evidence)	ATG7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia, SCAR31, MIM#619422 Tags
Green Green List (high evidence)	ATIC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland 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 Review Green Literature Phenotypes Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, MIM#618494 Tags
Green Green List (high evidence)	ATP1A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability seizures hypomagnesaemia Tags
Green Green List (high evidence)	ATP1A2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Alternating hemiplegia of childhood 1, MIM# 104290 Developmental and epileptic encephalopathy 98, MIM# 619605 Tags
Green Green List (high evidence)	ATP1A3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Alternating hemiplegia of childhood 2, MIM#614820 Developmental and epileptic encephalopathy, polymicrogyria Tags
Green Green List (high evidence)	ATP2B1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Intellectual developmental disorder, autosomal dominant 66, MIM# 619910 Tags
Green Green List (high evidence)	ATP2B2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related 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)	ATP6AP1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 47, MIM#300972 Tags
Green Green List (high evidence)	ATP6AP2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Congenital disorder of glycosylation, type IIr MIM#301045 Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423 Tags
Green Green List (high evidence)	ATP6V0A1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 104 MIM#619970 Neurodevelopmental disorder with epilepsy and brain atrophy MIM#619971 Tags
Green Green List (high evidence)	ATP6V0A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Cutis laxa, autosomal recessive, type IIA, MIM# 219200 Wrinkly skin syndrome, MIM#278250 Tags
Green Green List (high evidence)	ATP6V0C	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Epilepsy, early-onset, with or without developmental delay, MIM#620465 Epilepsy Intellectual Disability microcephaly Tags SV/CNV
Green Green List (high evidence)	ATP6V1A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Epileptic encephalopathy, infantile or early childhood, 3 618012 Cutis laxa, autosomal recessive, type IID 617403 Tags
Green Green List (high evidence)	ATP6V1B2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Zimmermann-Laband syndrome 2, MIM# 616455 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 Genetic Health Queensland Phenotypes Menkes disease MIM#309400 Tags treatable
Green Green List (high evidence)	ATP8A2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, MIM#615268 Tags
Green Green List (high evidence)	ATP9A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with poor growth and behavioural abnormalities, MIM# 620242 Tags
Green Green List (high evidence)	ATR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Seckel syndrome 1, MIM# 210600 Tags
Green Green List (high evidence)	ATRX	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 Phenotypes ATR-X-related syndrome MONDO:0016980 Tags
Green Green List (high evidence)	ATXN7L3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO_0100500, ATXN7L3-related Tags
Green Green List (high evidence)	AUH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes 3-methylglutaconic aciduria, type I, MIM# 250950 Tags
Green Green List (high evidence)	AUTS2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual developmental disorder, autosomal dominant 26, MIM# 615834 Tags SV/CNV
Green Green List (high evidence)	AXIN1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM# 620558 Tags
Green Green List (high evidence)	B3GALNT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181 MONDO:0014071 Tags
Green Green List (high evidence)	B3GLCT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Peters Plus Syndrome (MIM 261540) Peters anomaly Growth retardation Brachydactyly ID Tags
Green Green List (high evidence)	B4GALNT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Spastic paraplegia 26, autosomal recessive (MIM #609195) Tags
Green Green List (high evidence)	B4GALT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Congenital disorder of glycosylation, type Iid, MIM#607091 Tags
Green Green List (high evidence)	B4GALT7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070 Tags
Green Green List (high evidence)	B9D2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Joubert syndrome 34, MIM#614175 Meckel syndrome 10, MIM#614175 Tags
Green Green List (high evidence)	BAP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Kury-Isidor syndrome , MIM#619762 Tags
Green Green List (high evidence)	BBS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Bardet-Biedl syndrome 1 MONDO:0008854 Tags
Green Green List (high evidence)	BBS10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Bardet-Biedl syndrome 10 MONDO:0014438 Tags
Green Green List (high evidence)	BBS12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Bardet-Biedl syndrome 12 MONDO:0014440 Tags
Green Green List (high evidence)	BBS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Bardet-Biedl syndrome 2 MONDO:0014432 Tags
Green Green List (high evidence)	BBS4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland 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 Genetic Health Queensland 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 Genetic Health Queensland 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 Genetic Health Queensland 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 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 Green Literature Phenotypes Hengel-Maroofian-Schols syndrome, MIM# 619641 Tags
Green Green List (high evidence)	BCKDHA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes maple syrup urine disease type 1A MONDO:0023691 Tags treatable
Green Green List (high evidence)	BCKDHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes maple syrup urine disease type 1B MONDO:0023692 Tags treatable
Green Green List (high evidence)	BCKDK	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Branched-chain ketoacid dehydrogenase kinase deficiency MIM#614923 Tags treatable
Green Green List (high evidence)	BCL11A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Dias-Logan syndrome, MIM# 617101 Tags
Green Green List (high evidence)	BCL11B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, MIM# 618092 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 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 Genetic Health Queensland Phenotypes Bjornstad syndrome MONDO:0009872 Tags
Green Green List (high evidence)	BICRA	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Coffin-Siris syndrome-12, MIM#619325 Developmental delay, intellectual disability, autism spectrum disorder,behavioral abnormalities, dysmorphic features Tags
Green Green List (high evidence)	BLOC1S1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, BLOC1S1-related Tags
Green Green List (high evidence)	BMP4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Microphthalmia, syndromic 6, MIM# 607932 Tags
Green Green List (high evidence)	BOLA3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (MMDS2, OMIM #614299) Tags
Green Green List (high evidence)	BORCS8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), BORCS8-related Tags
Green Green List (high evidence)	BPTF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies AD, MIM#617755 Tags
Green Green List (high evidence)	BRAF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Cardiofaciocutaneous syndrome (MIM# 115150) Noonan syndrome (MIM# 613706) LEOPARD syndrome (MIM# 613707) Tags
Green Green List (high evidence)	BRAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056 Tags
Green Green List (high evidence)	BRD4	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Cornelia de Lange syndrome Tags
Green Green List (high evidence)	BRF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Cerebellofaciodental syndrome, MIM# 616202 Tags
Green Green List (high evidence)	BRPF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual developmental disorder with dysmorphic facies and ptosis, MIM# 617333 MONDO:0015022 Tags
Green Green List (high evidence)	BRSK2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability autism Tags
Green Green List (high evidence)	BRWD3	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 Phenotypes Intellectual developmental disorder, X-linked 93, MIM # 300659 Tags
Green Green List (high evidence)	BSCL2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes congenital generalized lipodystrophy type 2 MONDO:0010020 Tags
Green Green List (high evidence)	BSND	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Bartter syndrome, type 4a, MIM#602522 Tags
Green Green List (high evidence)	BTD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes biotinidase deficiency MONDO:0009665 Tags treatable
Green Green List (high evidence)	BUB1B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mosaic variegated aneuploidy syndrome 1, MIM# 257300 Tags
Green Green List (high evidence)	C12orf4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual developmental disorder, autosomal recessive 66 MIM#618221 Tags
Green Green List (high evidence)	C12orf57	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Temtamy syndrome MIM#218340 Tags
Green Green List (high evidence)	C12orf65	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes hereditary spastic paraplegia 55 MONDO:0014020 Tags
Green Green List (high evidence)	C16orf62	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135 Tags new gene name
Green Green List (high evidence)	C2CD3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Orofaciodigital syndrome XIV, MIM# 615948 Tags
Green Green List (high evidence)	C2orf69	1 review 1 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 Genetic Health Queensland 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 Phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730 Tags
Green Green List (high evidence)	CA8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, MIM#613227 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)	CACNA1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes developmental and epileptic encephalopathy, 42 MONDO:0014917 Tags
Green Green List (high evidence)	CACNA1B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM# 618497 Tags
Green Green List (high evidence)	CACNA1C	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures, MIM# 620029 Tags
Green Green List (high evidence)	CACNA1D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474 intellectual disability autism epilepsy Tags
Green Green List (high evidence)	CACNA1E	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 69, MIM#618285 Tags
Green Green List (high evidence)	CACNA1G	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM#618087 Tags
Green Green List (high evidence)	CACNA1I	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with variable intellectual disability and speech impairment, with or without seizures (NEDISS), MIM#620114 Tags
Green Green List (high evidence)	CACNA2D1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 110, MIM# 620149 Tags
Green Green List (high evidence)	CACNA2D2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cerebellar atrophy with seizures and variable developmental delay, MIM#618501 Tags
Green Green List (high evidence)	CAD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 50, MIM# MIM 616457 Tags
Green Green List (high evidence)	CAMK2A	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal recessive 63 MIM#618095 Mental retardation, autosomal dominant 53 MIM#617798 Tags
Green Green List (high evidence)	CAMK2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal dominant 54, MIM# 617799 Tags
Green Green List (high evidence)	CAMK2D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), CAMK2D-related Tags
Green Green List (high evidence)	CAMK4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Other Phenotypes Global developmental delay Intellectual disability Autism Behavioral abnormality Abnormality of movement Dystonia Ataxia Chorea Myoclonus Tags
Green Green List (high evidence)	CAMSAP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cortical dysplasia, complex, with other brain malformations 12, MIM# 620316 Tags
Green Green List (high evidence)	CAMTA1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD) Tags SV/CNV
Green Green List (high evidence)	CAPN15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Oculogastrointestinal neurodevelopmental syndrome, MIM# 619318 Tags
Green Green List (high evidence)	CAPRIN1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder, MIM# 620782 Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636 Tags
Green Green List (high evidence)	CARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability microcephaly brittle hair and nails Tags
Green Green List (high evidence)	CARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 27, MIM#616672 Tags
Green Green List (high evidence)	CASK	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes FG syndrome 4 MIM#300422 Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749 Intellectual disability, with or without nystagmus MIM#300422 Tags
Green Green List (high evidence)	CASP2	2 reviews 2 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 Genetic Health Queensland Phenotypes CBL-related disorder MONDO:0013308 Tags
Green Green List (high evidence)	CBS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Homocystinuria (MIM# 236200) Tags treatable
Green Green List (high evidence)	CBX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder (MONDO#0700092), CBX1-related Tags
Green Green List (high evidence)	CBY1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes intellectual disability cerebellar ataxia molar tooth sign polydactyly Joubert syndrome Tags
Green Green List (high evidence)	CC2D1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Autosomal recessive mental retardation, (MIM#608443) Tags
Green Green List (high evidence)	CC2D2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes COACH syndrome 2, MIM# 619111 Joubert syndrome 9, MIM#612285 Meckel syndrome 6, MIM#612284 Tags
Green Green List (high evidence)	CCBE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510 lymphangiectasia and lymphoedema facial abnormalities dysmorphic features hypoalbuminaemia intellectual disability hypoglobulinaemia Tags
Green Green List (high evidence)	CCDC115	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type IIo MIM# 616828 Tags
Green Green List (high evidence)	CCDC22	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Ritscher-Schinzel syndrome 2, MIM# 300963 Tags
Green Green List (high evidence)	CCDC47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Trichohepatoneurodevelopmental syndrome, 618268 Tags
Green Green List (high evidence)	CCDC82	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, CCDC82-related Tags
Green Green List (high evidence)	CCDC88A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes PEHO syndrome-like, MIM# 617507 Tags
Green Green List (high evidence)	CCDC88C	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR Tags
Green Green List (high evidence)	CCND2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, MIM# 615938 Neurodevelopmental disorder, CCND2-related MONDO: 0700092 Microcephaly, MONDO: 0001149 Tags
Green Green List (high evidence)	CDC42	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Takenouchi-Kosaki syndrome, MIM#616737 Tags
Green Green List (high evidence)	CDC42BPB	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Chilton-Okur-Chung neurodevelopmental syndrome, MIM# 619841 Tags
Green Green List (high evidence)	CDH11	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Elsahy-Waters syndrome, MIM# 211380 Teebi hypertelorism syndrome Tags
Green Green List (high evidence)	CDH2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability corpus callosum abnormalities congenital abnormalities Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MIM# 618929 Tags
Green Green List (high evidence)	CDK10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Al Kaissi syndrome MIM#617694 Tags
Green Green List (high evidence)	CDK13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360 Tags
Green Green List (high evidence)	CDK16	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder (MONDO#0700092) CDK16-related Tags
Green Green List (high evidence)	CDK19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability epileptic encephalopathy Epileptic encephalopathy, early infantile, 87, MIM# 618916 Tags
Green Green List (high evidence)	CDK5RAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Microcephaly 3, primary, autosomal recessive, MIM# 604804 MONDO:0011488 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	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 Phenotypes Developmental and epileptic encephalopathy 2, MIM# 300672 Tags
Green Green List (high evidence)	CDON	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes holoprosencephaly 11 MONDO:0013642 Tags
Green Green List (high evidence)	CELF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 97, MIM#619561 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	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Stromme syndrome (MIM#243605) Tags
Green Green List (high evidence)	CENPJ	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Microcephaly 6, primary, autosomal recessive, MIM# 608393, MONDO:0012029 Seckel syndrome 4, MIM# 613676, MONDO:0013358 Tags
Green Green List (high evidence)	CEP104	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Joubert syndrome 25, MIM# 616781 MONDO:0014770 Neurodevelopmental disorder MONDO:0014770, CEP104-related Tags
Green Green List (high evidence)	CEP120	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature 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 Phenotypes Microcephalic primordial dwarfism Microcephaly 8, primary, autosomal recessive, 614673 Tags
Green Green List (high evidence)	CEP152	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland 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 Expert Review Green 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 Genetic Health Queensland Phenotypes Joubert syndrome 5, MIM# 610188 Meckel syndrome 4, MIM# 611134 Bardet-Biedl syndrome 14, MIM# 615991 Tags
Green Green List (high evidence)	CEP295	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Seckel syndrome 11, OMIM # 620767 Tags
Green Green List (high evidence)	CEP41	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland 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 Literature Phenotypes Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM# 236500 Microcephaly Intellectual disability Tags
Green Green List (high evidence)	CEP57	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland 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 Genetic Health Queensland Phenotypes Nephronophthisis 18, MIM# 615862 MONDO:0014374 Retinal dystrophy ID Tags
Green Green List (high evidence)	CEP85L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Lissencephaly, posterior predominant Tags
Green Green List (high evidence)	CHAMP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal dominant 40 (MIM#616579) Tags
Green Green List (high evidence)	CHD1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Pilarowski-Bjornsson syndrome, MIM#617682 Tags
Green Green List (high evidence)	CHD2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Epileptic encephalopathy, childhood-onset (MIM # 615369) Tags
Green Green List (high evidence)	CHD3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Snijders Blok-Campeau syndrome, MIM#618205 Tags
Green Green List (high evidence)	CHD4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Sifrim-Hitz-Weiss syndrome, MIM 617159 Tags
Green Green List (high evidence)	CHD5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability Epilepsy Tags
Green Green List (high evidence)	CHD7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes CHARGE syndrome, MIM# 214800 Tags
Green Green List (high evidence)	CHD8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes {Autism, susceptibility to, 18} 615032 Neurodevelopmental disorder, MONDO:0700092, CHD8-associated Tags
Green Green List (high evidence)	CHKA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, MIM#620023 Tags
Green Green List (high evidence)	CHKB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland 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 Phenotypes Pontocerebellar hypoplasia, type 8, MIM# 614961 Tags
Green Green List (high evidence)	CIC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual developmental disorder, autosomal dominant 45 MIM#617600 Tags
Green Green List (high evidence)	CIT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Microcephaly 17, primary, autosomal recessive (MIM#617090) Tags
Green Green List (high evidence)	CKAP2L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Filippi syndrome, MIM# 272440 Tags
Green Green List (high evidence)	CLCN3	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 Neurodevelopmental disorder with hypotonia and brain abnormalities, MIM# 619512 Neurodevelopmental disorder with seizures and brain abnormalities, MIM# 619517 Tags
Green Green List (high evidence)	CLCN4	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 Phenotypes Raynaud-Claes syndrome, MIM#300114 intellectual disability epilepsy autistic features mood disorders cerebral white matter changes progressive appendicular spasticity Tags
Green Green List (high evidence)	CLCN6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities, MIM# 619173 Developmental delay neurodegeneration Tags
Green Green List (high evidence)	CLCNKB	1 review 1 green	Other	Sources Expert Review Green Genetic Health Queensland Phenotypes Bartter syndrome, type 3, MIM#607364 Bartter syndrome, type 4b, digenic, MIM#613090 Tags
Green Green List (high evidence)	CLDN5	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Syndromic disorder, MONDO:0002254, CLDN5-related Tags
Green Green List (high evidence)	CLN3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Ceroid lipofuscinosis, neuronal, 3 MIM#204200 Tags
Green Green List (high evidence)	CLN5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Ceroid lipofuscinosis, neuronal, 5, MIM# 256731 MONDO:0009745 Tags
Green Green List (high evidence)	CLN6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Ceroid lipofuscinosis, neuronal, 6, MIM# 601780 Tags
Green Green List (high evidence)	CLN8	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	CLP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Pontocerebellar hypoplasia type 10, MIM# 615803 Tags founder
Green Green List (high evidence)	CLPB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835 Tags
Green Green List (high evidence)	CLTC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal dominant 56, MIM# 617854 Tags
Green Green List (high evidence)	CNKSR2	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 Phenotypes Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008 Tags
Green Green List (high evidence)	CNNM2	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Hypomagnesemia 6, renal MIM#613882 Hypomagnesemia, seizures, and mental retardation MIM#616418 Tags
Green Green List (high evidence)	CNOT1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Vissers-Bodmer syndrome, MIM#619033 Holoprosencephaly 12, with or without pancreatic agenesis 618500 Tags
Green Green List (high evidence)	CNOT2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list 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 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 618672 Tags
Green Green List (high evidence)	CNOT9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 Tags
Green Green List (high evidence)	CNPY3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 60 (MIM 617929) Tags
Green Green List (high evidence)	CNTNAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland 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 Genetic Health Queensland Phenotypes Cortical dysplasia-focal epilepsy syndrome, MIM# 610042 Tags
Green Green List (high evidence)	COASY	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodegeneration with brain iron accumulation 6 615643 Pontocerebellar hypoplasia, type 12 618266 Tags
Green Green List (high evidence)	COG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Congenital disorder of glycosylation, type IIg, MIM# 611209 Tags
Green Green List (high evidence)	COG4	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Saul-Wilson syndrome, OMIM #618150 Congenital disorder of glycosylation, type IIj, OMIM #613489 Tags
Green Green List (high evidence)	COG5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Congenital disorder of glycosylation, type IIi, MIM# 613612 Tags
Green Green List (high evidence)	COG6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Congenital disorder of glycosylation, type Iil, MIM#614576 Tags
Green Green List (high evidence)	COG7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Congenital disorder of glycosylation, type IIe , MIM#608779 Tags
Green Green List (high evidence)	COG8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Congenital disorder of glycosylation, type IIh, MIM# 611182 Tags
Green Green List (high evidence)	COL4A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes COL4A1-related disorder MONDO:0800461 Tags
Green Green List (high evidence)	COL4A2	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	COL4A3BP	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual developmental disorder 34 (MIM#616351) Tags new gene name
Green Green List (high evidence)	COLEC11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes 3MC syndrome 2, MIM# 265050 Tags
Green Green List (high evidence)	COPB2	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM# 619884 Tags
Green Green List (high evidence)	COQ4	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags treatable
Green Green List (high evidence)	COQ8A	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags treatable
Green Green List (high evidence)	COX10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mitochondrial complex IV deficiency, nuclear type 3, MIM# 619046 Tags
Green Green List (high evidence)	COX11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial disease (MONDO:0044970), COX11-related Tags
Green Green List (high evidence)	COX15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	CPE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Intellectual developmental disorder and hypogonadotropic hypogonadism, MIM# 619326 Tags
Green Green List (high evidence)	CPS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Carbamoylphosphate synthetase I deficiency MIM#237300 Tags treatable
Green Green List (high evidence)	CPSF3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, hypotonia, and seizures (NEDMHS), MIM#619876 Tags
Green Green List (high evidence)	CRADD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland 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 Genetic Health Queensland Phenotypes Ventriculomegaly with cystic kidney disease, MIM# 219730 Tags
Green Green List (high evidence)	CREBBP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Rubinstein-Taybi syndrome 1, MIM# 180849 Menke-Hennekam syndrome 1, MIM# 618332 Tags
Green Green List (high evidence)	CRELD1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Jeffries-Lakhani neurodevelopmental syndrome, MIM# 620771 Tags
Green Green List (high evidence)	CRIPT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Short stature with microcephaly and distinctive facies (MIM#615789) : Rothmund-Thomson syndrome MONDO:0010002 Tags
Green Green List (high evidence)	CRLS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 57, MIM# 620167 Tags
Green Green List (high evidence)	CRNKL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes complex neurodevelopmental disorder MONDO:0100038 Tags
Green Green List (high evidence)	CSDE1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, CSDE1-related Tags
Green Green List (high evidence)	CSNK1G1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, CSNK1G-related Tags
Green Green List (high evidence)	CSNK2A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Okur-Chung neurodevelopmental syndrome, MIM# 617062 Tags
Green Green List (high evidence)	CSNK2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Poirier-Bienvenu neurodevelopmental syndrome , MIM#618732 Tags
Green Green List (high evidence)	CSPP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Joubert syndrome 21, MIM# 615636 MONDO:0014288 Tags
Green Green List (high evidence)	CTBP1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915 Tags
Green Green List (high evidence)	CTCF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal dominant 21 (MIM#615502) Tags
Green Green List (high evidence)	CTDP1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	CTNNA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cortical dysplasia, complex, with other brain malformations 9, MIM#618174 Tags
Green Green List (high evidence)	CTNNB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with spastic diplegia and visual defects , MIM#615075 Tags
Green Green List (high evidence)	CTR9	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO:0700092), CTR9-related Tags
Green Green List (high evidence)	CTSA	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	CTSD	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	CTU2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142 Tags
Green Green List (high evidence)	CUL3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with or without autism or seizures, MIM# 619239 Global developmental delay Intellectual disability Seizures Abnormality of cardiovascular system morphology Abnormality of the palate 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 Genetic Health Queensland Phenotypes Mental retardation, X-linked, syndromic 15 (Cabezas type), MIM# 300354 Tags
Green Green List (high evidence)	CUX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Global developmental delay with or without impaired intellectual development, MIM#618330 Tags
Green Green List (high evidence)	CUX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Epileptic encephalopathy, early infantile, 67, MIM#618141 Tags
Green Green List (high evidence)	CWC27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland 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 list Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 17, MIM#616127 intellectual disability, developmental delay Tags
Green Green List (high evidence)	CXorf56	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Mental retardation, X-linked 107, MIM# 301013 Tags
Green Green List (high evidence)	CYB5R3	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	CYFIP2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 65, MIM#618008 Intellectual disability Tags
Green Green List (high evidence)	CYHR1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Neurodevelopmental disorder and microcephaly, MONDO:0700092, CYHR1-related Tags new gene name
Green Green List (high evidence)	D2HGDH	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	DAG1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 Tags
Green Green List (high evidence)	DAGLA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neuroocular syndrome 2, paroxysmal type, MIM# 168885 Tags
Green Green List (high evidence)	DARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281 Tags new gene name
Green Green List (high evidence)	DARS2	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	DBT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Maple syrup urine disease, type II (MIM#248600) Tags treatable
Green Green List (high evidence)	DCAF17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Woodhouse-Sakati syndrome, MIM# 241080 Tags
Green Green List (high evidence)	DCHS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Van Maldergem syndrome 1, MIM# 601390 Tags
Green Green List (high evidence)	DCPS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Al-Raqad syndrome, MIM#616459 Tags
Green Green List (high evidence)	DCX	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	DDB1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Research Phenotypes White-Kernohan syndrome, MIM# 619426 Syndromic intellectual disability Tags
Green Green List (high evidence)	DDC	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	DDHD2	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	DDX11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Warsaw breakage syndrome, MIM# 613398 MONDO:0013252 Tags
Green Green List (high evidence)	DDX17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), DDX17-related Tags
Green Green List (high evidence)	DDX23	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, DDX23-related Tags
Green Green List (high evidence)	DDX3X	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 Genetic Health Queensland Phenotypes Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type MIM# 300958 Tags
Green Green List (high evidence)	DDX59	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Orofaciodigital syndrome V, MIM#174300 Tags
Green Green List (high evidence)	DDX6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green 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 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)	DEGS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukodystrophy hypomyelinating 18, MIM#618404 Tags
Green Green List (high evidence)	DENND5A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 49, MIM# 617281 Tags
Green Green List (high evidence)	DENND5B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Neurodevelopmental disorder with white matter anomalies, MONDO:0700092, DENND5B-related Tags
Green Green List (high evidence)	DEPDC5	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland 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 Review Green Genetic Health Queensland Phenotypes Desmosterolosis, MIM# 602398 Tags
Green Green List (high evidence)	DHCR7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Smith-Lemli-Opitz syndrome MONDO:0010035 Tags
Green Green List (high evidence)	DHDDS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Developmental delay and seizures with or without movement abnormalities, MIM#617836 Tags
Green Green List (high evidence)	DHFR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Megaloblastic anemia due to dihydrofolate reductase deficiency, MIM# 613839 Tags
Green Green List (high evidence)	DHPS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with seizures and speech and walking impairment, MIM#618480 Tags
Green Green List (high evidence)	DHTKD1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	DHX30	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with severe motor impairment and absent language, MIM#617804 Tags
Green Green List (high evidence)	DHX37	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, MIM#618731 Tags
Green Green List (high evidence)	DHX9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, DHX9-related Tags
Green Green List (high evidence)	DIAPH1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	DIP2C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), DIP2C-related Tags
Green Green List (high evidence)	DIS3L2	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland 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 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 Genetic Health Queensland Phenotypes DKC1-related disorder MONDO:0100152 Tags
Green Green List (high evidence)	DLD	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Dihydrolipoamide dehydrogenase deficiency MIM#246900 Tags
Green Green List (high evidence)	DLG3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, X-linked 90, MIM#300850 Tags
Green Green List (high evidence)	DLG4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual developmental disorder 62, MIM# 618793 Tags
Green Green List (high evidence)	DLL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability autism seizures variable brain abnormalities scoliosis Tags
Green Green List (high evidence)	DM1 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Myotonic dystrophy 1 MIM#160900 Tags
Green Green List (high evidence)	DMAP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Neurodevelopmental disorder, MONDO:0700092, DMAP1-related Tags
Green Green List (high evidence)	DMD	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Duchenne muscular dystrophy MIM#310200 Tags SV/CNV
Green Green List (high evidence)	DMXL2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 81, MIM# 618663 Tags
Green Green List (high evidence)	DNAJC12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384 Tags
Green Green List (high evidence)	DNAJC19	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	DNM1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Developmental and epileptic encephalopathy 31A, autosomal dominant, MIM# 616346 Developmental and epileptic encephalopathy 31B, autosomal recessive, MIM# 620352 Tags
Green Green List (high evidence)	DNM1L	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MIM#614388 Tags
Green Green List (high evidence)	DNMT3A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Tatton-Brown-Rahman syndrome, MIM#615879 primordial dwarfism with intellectual disability and microcephaly Tags
Green Green List (high evidence)	DNMT3B	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	DOCK3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292 Tags
Green Green List (high evidence)	DOCK4	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes DOCK4-related neurodevelopmental disorder (MONDO:0060490) Tags
Green Green List (high evidence)	DOCK6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Adams-Oliver syndrome 2, MIM#614219 Tags
Green Green List (high evidence)	DOCK7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Developmental and epileptic encephalopathy 23 MIM#615859 MONDO:0014371 Tags
Green Green List (high evidence)	DOHH	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066 Tags
Green Green List (high evidence)	DOLK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes DK1-CDG, MONDO:0012556 Congenital disorder of glycosylation, type Im, MIM# 610768 Tags
Green Green List (high evidence)	DOT1L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, DOT1L-related Tags
Green Green List (high evidence)	DPAGT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Congenital disorder of glycosylation, type Ij, MIM# 608093 DPAGT1-CDG MONDO:0011964 Tags
Green Green List (high evidence)	DPF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland 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 Phenotypes Developmental delay with short stature, dysmorphic facial features, and sparse hair, MIM#616901 Tags
Green Green List (high evidence)	DPH5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties 620070 Tags
Green Green List (high evidence)	DPM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Congenital disorder of glycosylation, type Ie, MIM# 608799 Tags
Green Green List (high evidence)	DPM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Congenital disorder of glycosylation, type Iu, MIM#615042 Tags
Green Green List (high evidence)	DPYS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Dihydropyrimidinuria, MIM#222748 Tags
Green Green List (high evidence)	DPYSL5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Ritscher-Schinzel syndrome 4, MIM# 619435 Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities 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)	DTYMK	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodegeneration, childhood-onset, with progressive microcephaly (MIM# 619847) Tags
Green Green List (high evidence)	DYM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Dyggve-Melchior-Clausen disease, MIM#223800 Tags
Green Green List (high evidence)	DYNC1H1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
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)	DYRK1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal dominant 7 (MIM#614104) Tags
Green Green List (high evidence)	EARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Combined oxidative phosphorylation deficiency 12, MIM#614924 Tags
Green Green List (high evidence)	EBF3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Hypotonia, ataxia, and delayed development syndrome, MIM# 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 Phenotypes Chondrodysplasia punctata, X-linked dominant MIM#302960 Conradi-Hunermann syndrome MEND syndrome, MIM#300960 Tags somatic
Green Green List (high evidence)	EDEM3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type 2V, MIM# 619493 Tags
Green Green List (high evidence)	EED	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Cohen-Gibson syndrome, MIM# 617561 Tags
Green Green List (high evidence)	EEF1A2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal dominant 38, MIM# 616393 MONDO:0014617 Developmental and epileptic encephalopathy 33, MIM# 616409 MONDO:0014625 Tags
Green Green List (high evidence)	EEF1B2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO:0700092 non-syndromic ID and seizures Intellectual disability Tags
Green Green List (high evidence)	EEF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder macrocephaly hydrocephalus Tags
Green Green List (high evidence)	EFTUD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536 Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516 Tags
Green Green List (high evidence)	EHMT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Kleefstra syndrome 1, MIM# 610253 MONDO:0027407 Tags
Green Green List (high evidence)	EIF2AK2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability white matter abnormalities ataxia regression with febrile illness Tags
Green Green List (high evidence)	EIF2AK3	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland 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 Phenotypes MEHMO syndrome, MIM# 300148 Tags
Green Green List (high evidence)	EIF3F	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mental retardation, autosomal recessive 67, MIM# 618295 Tags
Green Green List (high evidence)	EIF4A2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, MIM# 620455 Tags
Green Green List (high evidence)	EIF4A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland 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 Green Literature 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 Genetic Health Queensland Phenotypes Combined oxidative phosphorylation deficiency 17, MIM#615440 Tags
Green Green List (high evidence)	ELOVL4	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	ELP2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes intellectual disability, autosomal recessive 58 MONDO:0014996 Tags
Green Green List (high evidence)	EMC1	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cerebellar atrophy, visual impairment, and psychomotor retardation, MIM# 616875 Tags
Green Green List (high evidence)	EMC10	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with dysmorphic facies and variable seizures, MIM# 619264 Tags founder
Green Green List (high evidence)	EML1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Band heterotopia (MIM# 600348) Tags
Green Green List (high evidence)	ENTPD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 64, autosomal recessive, MIM# 615683 Tags
Green Green List (high evidence)	EP300	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	EPG5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Vici syndrome, MIM# 242840 Tags
Green Green List (high evidence)	EPRS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leukodystrophy, hypomyelinating, 15 (MIM#617951) Tags
Green Green List (high evidence)	ERCC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Cerebrooculofacioskeletal syndrome 4, MIM# 610758 MONDO:0012554 Tags
Green Green List (high evidence)	ERCC2	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	ERCC3	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	ERCC5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Cerebrooculofacioskeletal syndrome 3, MIM# 616570 MONDO:0014696 Xeroderma pigmentosum, group G, MIM# 278780 MONDO:0010216 Tags
Green Green List (high evidence)	ERCC6	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	ERCC6L2	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	ERCC8	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	ERF	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Chitayat syndrome, MIM#617180 Craniosynostosis 4, MIM#600775 Tags
Green Green List (high evidence)	ERI1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hoxha-Aliu syndrome, MIM# 620662 Tags
Green Green List (high evidence)	ERLIN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Spastic paraplegia 18, autosomal recessive, MIM#611225 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	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	ETFA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Glutaric acidemia IIA, MIM#231680 Tags treatable
Green Green List (high evidence)	ETFB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Glutaric acidemia IIB, MIM#231680 Tags treatable
Green Green List (high evidence)	ETFDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Glutaric acidemia IIC, MIM#231680 Tags treatable
Green Green List (high evidence)	ETHE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Ethylmalonic encephalopathy , MIM#602473 Tags treatable
Green Green List (high evidence)	EXOC7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes brain atrophy seizures developmental delay microcephaly Tags
Green Green List (high evidence)	EXOSC3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Pontocerebellar hypoplasia, type 1B, MIM# 614678 Tags
Green Green List (high evidence)	EXOSC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Pontocerebellar hypoplasia, type 1C, MIM#616081 Tags
Green Green List (high evidence)	EXT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Seizures, scoliosis, and macrocephaly syndrome, MIM#616682 Tags
Green Green List (high evidence)	EXTL3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425 Tags
Green Green List (high evidence)	EZH1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO:0700092), EZH1-related Tags
Green Green List (high evidence)	EZH2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Weaver syndrome MIM#277590 Tags
Green Green List (high evidence)	FAM126A	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	FAM149B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert Ciliopathy Tags
Green Green List (high evidence)	FAM177A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO_0100500, FAM177a1-related Tags
Green Green List (high evidence)	FAM20C	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	FAM50A	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 Mental retardation syndrome, X-linked, Armfield type (MIM #300261) Tags
Green Green List (high evidence)	FAR1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154 Cataracts, spastic paraparesis, and speech delay, MIM#619338 Tags
Green Green List (high evidence)	FARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Combined oxidative phosphorylation deficiency 14, MIM#614946 Tags
Green Green List (high evidence)	FARSA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Rajab interstitial lung disease with brain calcifications 2 Tags
Green Green List (high evidence)	FARSB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Rajab syndrome, MIM#613658 interstitial lung disease brain calcifications microcephaly intellectual disability Tags
Green Green List (high evidence)	FASTKD2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mitochondrial complex IV deficiency, MIM#220110 Tags
Green Green List (high evidence)	FAT4	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	FBRSL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Malformation and intellectual disability syndrome Tags
Green Green List (high evidence)	FBXL3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with short stature, facial anomalies, and speech defects OMIM #606220 Tags
Green Green List (high evidence)	FBXL4	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	FBXO11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual Developmental Disorder with Dysmorphic Facies and Behavioural Abnormalities, MIM#618089 Tags
Green Green List (high evidence)	FBXO28	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 100, MIM# 619777 Tags
Green Green List (high evidence)	FBXO31	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal recessive 45, MIM#615979 Spastic-dystonic cerebral palsy, de novo dominant Tags
Green Green List (high evidence)	FBXW11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental, eye, jaw, and digital syndrome (NDEJD), MIM#618914 Intellectual disability developmental eye anomalies digital anomalies Tags
Green Green List (high evidence)	FBXW7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental delay, hypotonia, and impaired language, MIM# 620012 Tags
Green Green List (high evidence)	FDFT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Squalene synthase deficiency, MIM#618156 Tags
Green Green List (high evidence)	FDXR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887 Auditory neuropathy and optic atrophy, MIM# 617717 Tags
Green Green List (high evidence)	FEM1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Syndromic disease MONDO:0002254, FEM1B-related Tags
Green Green List (high evidence)	FEM1C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, FEM1C-related MONDO:0700092 Tags
Green Green List (high evidence)	FEZF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO:0700092, FEZF2-related 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 Phenotypes Aarskog-Scott syndrome, MIM # 305400 Mental retardation, X-linked syndromic 16, MIM# 305400 Tags
Green Green List (high evidence)	FGF12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Developmental and epileptic encephalopathy 47, MIM# 617166 Tags
Green Green List (high evidence)	FGF13	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 90, MIM# 301058 Intellectual developmental disorder, X-linked 110, MIM# 301095 Tags 5'UTR
Green Green List (high evidence)	FGF14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Spinocerebellar ataxia 27, MIM# 609307 Vestibulocerebellar disorder with predominant ocular signs, MIM# 193003 Tags
Green Green List (high evidence)	FGFR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Hartsfield syndrome, MIM# 615465 Tags
Green Green List (high evidence)	FGFR3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes CATSHL syndrome 610474 Hypochondroplasia 146000 SADDAN 616482 Muenke syndrome 602849 Thanatophoric dysplasia, type I 187600 Tags
Green Green List (high evidence)	FH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Fumarase deficiency (MIM# 606812) Tags
Green Green List (high evidence)	FIG4	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	FITM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Siddiqi syndrome MIM#618635 Tags
Green Green List (high evidence)	FKRP	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	FKTN	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland 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 Review Green Genetic Health Queensland Phenotypes Heterotopia, periventricular, 1, MIM# 300049 Tags
Green Green List (high evidence)	FLVCR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790 Tags
Green Green List (high evidence)	FMN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual developmental disorder, autosomal recessive 47, MIM#616193 Tags
Green Green List (high evidence)	FMR1	1 review 1 green	Unknown	Sources Expert Review Green Genetic Health Queensland Tags STR
Green Green List (high evidence)	FOLR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068 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)	FOXG1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	FOXP1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation with language impairment and with or without autistic features, MIM# 613670 Tags
Green Green List (high evidence)	FOXP2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Speech-language disorder-1, MIM# 602081 Tags
Green Green List (high evidence)	FOXP4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), FOXP4-related Tags
Green Green List (high evidence)	FOXRED1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	FRA10AC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature 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 Phenotypes Fraser syndrome 1, MIM#219000 Tags
Green Green List (high evidence)	FRAXE STR	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Fragile X syndrome, FRAXE type (OMIM 309548) Tags
Green Green List (high evidence)	FRMD5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094 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 Phenotypes Mental retardation, X-linked 104, MIM#300983 Tags
Green Green List (high evidence)	FRRS1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 37, MIM#616981 Tags
Green Green List (high evidence)	FRYL	1 review 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)	FSD1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Neurodevelopmental disorder, MONDO:0700092, FSD1L-related Tags
Green Green List (high evidence)	FTO	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Growth retardation, developmental delay, facial dysmorphism, MIM# 612938 Tags
Green Green List (high evidence)	FTSJ1	1 review 1 green	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	FUCA1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	FUK	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324 Tags
Green Green List (high evidence)	FUT8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Congenital disorder of glycosylation with defective fucosylation 1, MIM#618005 Tags
Green Green List (high evidence)	FZR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Developmental and epileptic encephalopathy 109, MIM# 620145 Tags
Green Green List (high evidence)	GABBR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with language delay and variable cognitive abnormalities, MIM#620502 Tags
Green Green List (high evidence)	GABBR2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with poor language and loss of hand skills, 617903 Tags
Green Green List (high evidence)	GABRA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Epileptic encephalopathy, early infantile, 19 615744 Rett syndrome Rett-like phenotypes idiopathic generalized Epilepsy Dravet syndrome Tags
Green Green List (high evidence)	GABRA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 78, 618557 Tags
Green Green List (high evidence)	GABRA3	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 Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, MIM# 301091 Tags
Green Green List (high evidence)	GABRA4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, GABRA4-related Tags
Green Green List (high evidence)	GABRA5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 79 OMIM #618559 Tags
Green Green List (high evidence)	GABRB2	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	GABRB3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Epileptic encephalopathy, early infantile, 43, MIM# 617113 Tags
Green Green List (high evidence)	GABRD	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability Epilepsy Susceptibility to epilepsy, MIM#613060 Tags
Green Green List (high evidence)	GABRG2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Epileptic encephalopathy, early infantile, 74 618396 Epilepsy, generalized, with febrile seizures plus, type 3 607681 Tags
Green Green List (high evidence)	GAD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Cerebral palsy, spastic quadriplegic, 1, MIM#603513 Developmental and epileptic encephalopathy 89, MIM# 619124 Tags
Green Green List (high evidence)	GALC	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	GALE	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags treatable
Green Green List (high evidence)	GALNT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation Tags
Green Green List (high evidence)	GALT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Galactosemia, MIM#230400 Tags treatable
Green Green List (high evidence)	GAMT	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags treatable
Green Green List (high evidence)	GATA6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Pancreatic agenesis and congenital heart defects, MIM#600001 Tags
Green Green List (high evidence)	GATAD2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, GATAD2A-related Tags
Green Green List (high evidence)	GATAD2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal dominant 18, OMIM # 615074 Tags
Green Green List (high evidence)	GATM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Cerebral creatine deficiency syndrome 3, MIM# 612718 Tags
Green Green List (high evidence)	GCDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Glutaric aciduria, type I MIM#231670 Tags treatable
Green Green List (high evidence)	GCH1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	GCSH	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Multiple mitochondrial dysfunctions syndrome 7, MIM# 620423 Tags
Green Green List (high evidence)	GDI1	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 Genetic Health Queensland Phenotypes Intellectual developmental disorder, X-linked 41 MIM#300849 Tags
Green Green List (high evidence)	GEMIN4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, MIM# 617913 Tags
Green Green List (high evidence)	GEMIN5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, MIM# 619333 Tags
Green Green List (high evidence)	GFAP	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	GFER	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (MIM #613076) Tags
Green Green List (high evidence)	GFM1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	GFM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 39, OMIM #618397 Tags
Green Green List (high evidence)	GIGYF1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Autism spectrum disorder (MONDO:0005258), GIGYF1-related Tags
Green Green List (high evidence)	GJC2	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	GK	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	GLB1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	GLDC	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	GLI2	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	GLI3	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	GLIS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM#610199 Tags
Green Green List (high evidence)	GLRA2	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 Phenotypes Intellectual developmental disorder, X-linked, syndromic, Pilorge type, MIM# 301076 Tags
Green Green List (high evidence)	GLS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Global developmental delay, progressive ataxia, and elevated glutamine, MIM# 618412 Tags
Green Green List (high evidence)	GLUL	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Glutamine deficiency, congenital MIM#610015 Developmental and epileptic encephalopathy 116, MIM# 620806 Tags
Green Green List (high evidence)	GLYCTK	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	GM2A	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	GMPPA	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	GMPPB	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	GNAI1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, MIM# 619854 Tags
Green Green List (high evidence)	GNAO1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Epileptic encephalopathy, early infantile, 17 Neurodevelopmental disorder with involuntary movements Tags
Green Green List (high evidence)	GNAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genetic Health Queensland Phenotypes Pseudohypoparathyroidism Ia (103580) Pseudohypoparathyroidism Ib (603233) Pseudohypoparathyroidism Ic (612462) Pseudopseudohypoparathyroidism (612463) Tags
Green Green List (high evidence)	GNB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal dominant 42, MIM# 616973 Tags
Green Green List (high evidence)	GNB2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia and dysmorphic facies, MIM# 619503 Tags
Green Green List (high evidence)	GNB5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green 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
Green Green List (high evidence)	GNE	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Sialuria, MIM#269921 Tags
Green Green List (high evidence)	GNPAT	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	GNPTAB	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	GNPTG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mucolipidosis III gamma, MIM# 252605 MONDO:0009652 Tags
Green Green List (high evidence)	GNS	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	GOLGA2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental delay with hypotonia, myopathy, and brain abnormalities, MIM 620240 Tags
Green Green List (high evidence)	GOT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 82, MIM# 618721 Tags
Green Green List (high evidence)	GPAA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810 Tags
Green Green List (high evidence)	GPATCH11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Neurodevelopmental disorder, MONDO:0700092, GPATCH11-related Leber congenital amaurosis and developmental delay Tags
Green Green List (high evidence)	GPC3	1 review 1 green	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	GPC4	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 Keipert syndrome OMIM# 301026 Tags
Green Green List (high evidence)	GPRC5B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 3 MIM#620447 Tags
Green Green List (high evidence)	GPT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281 Tags
Green Green List (high evidence)	GRIA1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Intellectual developmental disorder, autosomal dominant 67, MIM# 619927 Intellectual developmental disorder, autosomal recessive 76, MIM# 619931 Tags
Green Green List (high evidence)	GRIA2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with language impairment and behavioral abnormalities, MIM# 618917 Tags
Green Green List (high evidence)	GRIA3	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 Phenotypes Intellectual developmental disorder, X-linked, syndromic, Wu type (MIM#300699) Tags
Green Green List (high evidence)	GRIA4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864 Tags
Green Green List (high evidence)	GRID2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Spinocerebellar ataxia, autosomal recessive 18 MIM#616204 Tags
Green Green List (high evidence)	GRIK2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal recessive, 6 MIM# 611092 Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580 Tags
Green Green List (high evidence)	GRIN1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Developmental and epileptic encephalopathy 101 , MIM#619814 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)	GRIN2A	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570 Tags
Green Green List (high evidence)	GRIN2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal dominant 6, MIM# 613970 Epileptic encephalopathy, early infantile, 27, MIM# 616139 Tags
Green Green List (high evidence)	GRIN2D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 46, MIM# 617162 intellectual disability Tags
Green Green List (high evidence)	GRM1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	GRM7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epilepsy, microcephaly, developmental delay neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA), MIM#618922 Tags
Green Green List (high evidence)	GSS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Glutathione synthetase deficiency, MIM# 266130 Tags
Green Green List (high evidence)	GTF2H5	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	GTF3C3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder MONDO:0700092, GTF3C3-related Tags
Green Green List (high evidence)	GTF3C5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO:0700092, GTF3C5-related Tags
Green Green List (high evidence)	GTPBP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), GTPBP1-related Tags
Green Green List (high evidence)	GTPBP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Jaberi-Elahi syndrome, MIM#617988 Tags
Green Green List (high evidence)	GTPBP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Combined oxidative phosphorylation deficiency 23, MIM#616198 Tags
Green Green List (high evidence)	GUSB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mucopolysaccharidosis VII, MIM# 253220 MONDO:0009662 Tags
Green Green List (high evidence)	H3F3A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual disability regression seizures Tags
Green Green List (high evidence)	H3F3B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Victorian Clinical Genetics Services Phenotypes Intellectual disability regression seizures Tags
Green Green List (high evidence)	HACE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Spastic paraplegia and psychomotor retardation with or without seizures, 616756 MONDO:0014764 Tags
Green Green List (high evidence)	HADHA	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags treatable
Green Green List (high evidence)	HADHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Trifunctional protein deficiency, MIM#609015 Tags treatable
Green Green List (high evidence)	HCCS	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland 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 Phenotypes Mental retardation, X-linked 3 (methylmalonic acidaemia and homocysteinaemia, cblX type) MIM# 309541 Tags
Green Green List (high evidence)	HCN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Developmental and epileptic encephalopathy 24, MIM# 615871 Generalized epilepsy with febrile seizures plus, type 10, MIM# 618482 Tags
Green Green List (high evidence)	HDAC4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Brachydactyly mental retardation syndrome Brachydactyly without intellectual disability 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 Genetic Health Queensland Phenotypes Cornelia de Lange syndrome 5, MIM# 300882 Tags
Green Green List (high evidence)	HECTD4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, MIM# 620250 Tags
Green Green List (high evidence)	HECW2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with hypotonia, seizures, and absent language (MIM#617268) Tags
Green Green List (high evidence)	HEPACAM	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	HERC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Macrocephaly, dysmorphic facies, and psychomotor retardation, MIM# 617011 Tags
Green Green List (high evidence)	HERC2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal recessive 38, MIM# 615516 Tags
Green Green List (high evidence)	HESX1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	HEXA	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	HEXB	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	HGSNAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930 MONDO:0009657 Tags
Green Green List (high evidence)	HIBCH	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	HID1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Syndromic infantile encephalopathy Hypopituitarism Tags
Green Green List (high evidence)	HIKESHI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 13, MIM# 616881 Tags
Green Green List (high evidence)	HIRA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder Tags
Green Green List (high evidence)	HIST1H1E	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Rahman syndrome, MIM# 617537 Tags
Green Green List (high evidence)	HIST1H4C	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Tessadori-van Haaften neurodevelopmental syndrome 1 MIM#619758 Tags new gene name
Green Green List (high evidence)	HIST1H4E	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Tessadori-van Haaften neurodevelopmental syndrome 3, MIM# 619950 Tags new gene name
Green Green List (high evidence)	HIST1H4I	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental syndrome, MONDO:0700092, HIST1H4I-related 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 Phenotypes Mental retardation, autosomal dominant 43, MIM# 616977 Tags
Green Green List (high evidence)	HK1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with visual defects and brain anomalies, MIM# 618547 Tags
Green Green List (high evidence)	HLCS	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags treatable
Green Green List (high evidence)	HMBS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Encephalopathy, porphyria-related MIM#620704 Leukoencephalopathy, porphyria-related, MIM#620711 Tags
Green Green List (high evidence)	HMGB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental delay and microcephaly, no OMIM # Tags
Green Green List (high evidence)	HMGCL	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags treatable
Green Green List (high evidence)	HNMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal recessive 51, MIM#616739 Tags
Green Green List (high evidence)	HNRNPC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes intellectual developmental disorder-74, MIM#620688 Tags
Green Green List (high evidence)	HNRNPD	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder Tags
Green Green List (high evidence)	HNRNPH1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, MIM# 620083 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 Genetic Health Queensland Phenotypes Intellectual developmental disorder, X-linked, syndromic, Bain type MIM#300986 Tags
Green Green List (high evidence)	HNRNPK	1 review 1 green	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	HNRNPR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM# 620073 Tags
Green Green List (high evidence)	HNRNPU	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Developmental and epileptic encephalopathy 54 MIM# 617391 Tags
Green Green List (high evidence)	HOXA1	1 review 1 green	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	HPD	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	HPDL	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026 Progressive neurological disorder Leigh-like syndrome Tags
Green Green List (high evidence)	HPRT1	1 review 1 green	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	HRAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Costello syndrome, MIM# 218040 Tags
Green Green List (high evidence)	HS2ST1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194 Intellectual disability dysmorphic features congenital anomalies Tags
Green Green List (high evidence)	HSD17B10	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	HSD17B4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes D-bifunctional protein deficiency, AR (MIM#261515) Perrault syndrome 1, AR (MIM#233400) Tags
Green Green List (high evidence)	HSPD1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	HSPG2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Schwartz-Jampel syndrome, type 1, MIM#255800 Tags
Green Green List (high evidence)	HTRA2	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland 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 Phenotypes Mental retardation, X-linked syndromic, Turner type Tags
Green Green List (high evidence)	IARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093 Tags new gene name
Green Green List (high evidence)	IBA57	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Multiple mitochondrial dysfunctions syndrome 3, MIM#615330 Tags
Green Green List (high evidence)	IDH2	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	IDS	1 review 1 green	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	IDUA	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	IER3IP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647 Tags
Green Green List (high evidence)	IFIH1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	IFT172	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	IFT27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Bardet-Biedl syndrome 19, MIM#615996 Tags
Green Green List (high evidence)	IFT74	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Bardet-Biedl syndrome 20, MIM# 617119 Joubert syndrome 40, MIM# 619582 Spermatogenic failure 58, MIM# 619585 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 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 Phenotypes Insulin-like growth factor I, resistance to, MIM# 270450 Tags
Green Green List (high evidence)	IKBKG	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	IL1RAPL1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual developmental disorder, X-linked 21 MIM#300143 Tags
Green Green List (high evidence)	IMPDH2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with dystonia Tags
Green Green List (high evidence)	INPP5E	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Joubert syndrome 1, MIM# 213300 MONDO:0008944 Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156 MONDO:0012423 Tags
Green Green List (high evidence)	INPP5K	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	INTS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571 Tags
Green Green List (high evidence)	INTS11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, MIM# 620428 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)	IQSEC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with short stature and behavioral abnormalities, MIM# 618687 Tags
Green Green List (high evidence)	IQSEC2	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 Phenotypes Intellectual developmental disorder, X-linked 1 MIM#309530, MONDO:0010656 Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347 Tags
Green Green List (high evidence)	IREB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, MIM#618451 Tags
Green Green List (high evidence)	IRF2BPL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM#618088 Tags
Green Green List (high evidence)	IRX5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Hamamy syndrome, MIM# 611174 Tags
Green Green List (high evidence)	ISCA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613 Tags
Green Green List (high evidence)	ISCA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370 Tags
Green Green List (high evidence)	ISPD	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	ITFG2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental abnormality Intellectual disability Developmental regression Ataxia Tags
Green Green List (high evidence)	ITPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Developmental and epileptic encephalopathy 35, MIM# 616647 Tags
Green Green List (high evidence)	ITPR1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	ITSN1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO:0700092 ITSN1-related Tags
Green Green List (high evidence)	IVD	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags treatable
Green Green List (high evidence)	JAM3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, MIM# 613730 Tags
Green Green List (high evidence)	JARID2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Developmental delay with variable intellectual disability and dysmorphic facies (DIDDF), MIM#620098 Tags SV/CNV
Green Green List (high evidence)	JMJD1C	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Intellectual disability (MONDO#0001071), JMJD1C-related Tags
Green Green List (high evidence)	KANSL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Koolen-De Vries syndrome (MIM#610443) Tags SV/CNV
Green Green List (high evidence)	KARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukoencephalopathy with or without deafness (LEPID), MIM#619147 Combined mitochondrial oxidative phosphorylation deficiency epilepsy intellectual disability microcephaly Tags
Green Green List (high evidence)	KAT5	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103 Severe global developmental delay Intellectual disability Seizures Microcephaly Behavioral abnormality Sleep disturbance Morphological abnormality of the central nervous system Short stature Oral cleft Abnormality of the face Tags
Green Green List (high evidence)	KAT6A	1 review 1 green	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	KAT6B	1 review 1 green	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	KAT8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability seizures autism dysmorphic features Li-Ghorbani-Weisz syndrome, MIM#618974 Tags
Green Green List (high evidence)	KATNB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Lissencephaly 6, with microcephaly, MIM# 616212 Tags
Green Green List (high evidence)	KCNA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Early infantile encephalopathy 32, MIM#616366 Tags
Green Green List (high evidence)	KCNA3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Neurodevelopmental disorder, MONDO:0700092, KCNA3-related Tags
Green Green List (high evidence)	KCNB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Epileptic encephalopathy, early infantile, 26, MIM# 616056 Tags
Green Green List (high evidence)	KCNB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO:0700092, KCNB2-related Tags
Green Green List (high evidence)	KCNC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual disability Movement disorders Epilepsy, progressive myoclonic 7 (MIM#616187) Tags
Green Green List (high evidence)	KCNC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Developmental and epileptic encephalopathy 103, MIM# 619913 Tags
Green Green List (high evidence)	KCND1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO:0700092, KCND1-related Tags
Green Green List (high evidence)	KCND2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder MONDO:0700092 global developmental delay, HP:0001263 seizure, HP:0001250 Tags
Green Green List (high evidence)	KCND3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Spinocerebellar ataxia 19, MIM#607346 Tags
Green Green List (high evidence)	KCNH1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Temple-Baraitser syndrome, OMIM:611816 Zimmermann-Laband syndrome 1, OMIM:135500 Intellectual disability Encephalopathy without features of TBS/ZLS Tags
Green Green List (high evidence)	KCNH5	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 112, MIM# 620537 Tags
Green Green List (high evidence)	KCNJ10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes SESAME syndrome, MIM# 612780 Tags
Green Green List (high evidence)	KCNJ6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Keppen-Lubinsky syndrome, MIM# 614098 MONDO:0013572 Tags
Green Green List (high evidence)	KCNK4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 618381 Tags
Green Green List (high evidence)	KCNK9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Genetic Health Queensland Phenotypes Birk-Barel syndrome, MIM# 612292 MONDO:0012856 Tags
Green Green List (high evidence)	KCNMA1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Cerebellar atrophy, developmental delay, and seizures, MIM# 617643 Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM#609446 Tags
Green Green List (high evidence)	KCNN2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725 Tags
Green Green List (high evidence)	KCNN3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Zimmermann-Laband syndrome 3 MIM#618658 Tags
Green Green List (high evidence)	KCNQ2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Developmental and epileptic encephalopathy 7, MIM# 613720 Intellectual disability Tags
Green Green List (high evidence)	KCNQ3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Seizures, benign neonatal, 2, MIM# 121201 Tags
Green Green List (high evidence)	KCNQ5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal dominant 46, MIM# 617601 Tags
Green Green List (high evidence)	KCNT1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	KCNT2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Epileptic encephalopathy, early infantile 57, 617771 Tags
Green Green List (high evidence)	KCTD3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Epilepsy Intellectual disability Posterior fossa abnormalities Tags
Green Green List (high evidence)	KCTD7	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	KDM1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Cleft palate, psychomotor retardation, and distinctive facial features 616728 Tags
Green Green List (high evidence)	KDM2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Neurodevelopmental disorder, MONDO:0700092, KDM2A-related 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)	KDM3B	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Diets-Jongmans syndrome, MIM# 618846 Intellectual disability dysmorphic features short stature Tags
Green Green List (high evidence)	KDM4B	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal dominant 65, MIM# 619320 Global developmental delay, intellectual disability and neuroanatomical defects Tags
Green Green List (high evidence)	KDM5A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, KDM5A-related El Hayek-Chahrour neurodevelopmental syndrome, MIM# 620820 Tags
Green Green List (high evidence)	KDM5B	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal recessive 65 MIM#618109 Neurodevelopmental disorder (MONDO#0700092), KDM5B-related, autosomal dominant 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 Phenotypes Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534 MONDO:0010355 Tags
Green Green List (high evidence)	KDM6A	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	KDM6B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Intellectual disability 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
Green Green List (high evidence)	KIAA0586	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	KIAA1109	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Alkuraya-Kucinskas syndrome, MIM# 617822 Tags
Green Green List (high evidence)	KIDINS220	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296 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 Phenotypes Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950 MONDO:0007918 Tags
Green Green List (high evidence)	KIF14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Microcephaly 20, primary, autosomal recessive, MIM# 617914 Meckel syndrome 12, MIM# 616258 Tags
Green Green List (high evidence)	KIF1A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal dominant 9, MIM#614255 Tags
Green Green List (high evidence)	KIF1BP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Goldberg-Shprintzen megacolon syndrome 609460 Tags new gene name
Green Green List (high evidence)	KIF21B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Global developmental delay Intellectual disability Abnormality of brain morphology Microcephaly Tags
Green Green List (high evidence)	KIF26A	2 reviews 2 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 Phenotypes Cortical dysplasia, complex, with other brain malformations 3, 615411 Tags
Green Green List (high evidence)	KIF4A	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual developmental disorder, X-linked 100 MIM#300923 Tags
Green Green List (high evidence)	KIF5A	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	KIF5C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Cortical dysplasia, complex, with other brain malformations 2, MIM# 615282 Tags
Green Green List (high evidence)	KIF7	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	KLF7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual disability Tags
Green Green List (high evidence)	KLHL20	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO:0700092), KLHL20-related Tags
Green Green List (high evidence)	KLHL7	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	KMT2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Wiedemann-Steiner syndrome, MIM# 605130 AD Tags
Green Green List (high evidence)	KMT2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Dystonia 28, childhood-onset 617284 MONDO:0015004 Intellectual developmental disorder, autosomal dominant 68, MIM# 619934 Tags
Green Green List (high evidence)	KMT2C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Kleefstra syndrome 2, MIM#617768 Tags
Green Green List (high evidence)	KMT2D	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Kabuki syndrome 1, MIM# 147920 KMT2D-associated syndrome Tags
Green Green List (high evidence)	KMT2E	1 review 1 green	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	KMT5B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Mental retardation, autosomal dominant 51, MIM#617788 Tags
Green Green List (high evidence)	KNL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Microcephaly 4, primary, autosomal recessive, MIM# 604321 MONDO:0011437 Tags
Green Green List (high evidence)	KPTN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal recessive 41 (MIM#615637) Tags
Green Green List (high evidence)	KRAS	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	L1CAM	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes L1 syndrome MONDO:0017140 Tags
Green Green List (high evidence)	L2HGDH	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	LAMA1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	LAMA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM#618138 LAMA2-related muscular dystrophy (suggested by PMID: 30055037) Tags
Green Green List (high evidence)	LAMB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Lissencephaly 5, MIM# 615191 Cystic leukoencephalopathy Tags
Green Green List (high evidence)	LAMB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Pierson syndrome, MIM#609049 Tags
Green Green List (high evidence)	LAMP2	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	LARGE1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	LARP7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Alazami syndrome, MIM# 615071 Microcephalic primordial dwarfism, Alazami type MONDO:0014031 Tags
Green Green List (high evidence)	LARS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Infantile liver failure syndrome 1, MIM# 615438 Seizures Intellectual disability Encephalopathy Tags new gene name
Green Green List (high evidence)	LARS2	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	LAS1L	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Wilson-Turner syndrome, MIM# 309585 Tags
Green Green List (high evidence)	LETM1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089 Tags
Green Green List (high evidence)	LGI3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, LGI3-related Global developmental delay Intellectual disability Distal deformities Diminished reflexes Facial myokymia Hyporeflexia/areflexi Tags
Green Green List (high evidence)	LHX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO: 0700092) Tags
Green Green List (high evidence)	LIAS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Hyperglycinemia, lactic acidosis, and seizures, MIM#614462 Tags
Green Green List (high evidence)	LIG4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes LIG4 syndrome, MIM# 606593 Tags
Green Green List (high evidence)	LINGO4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental Delay, Intellectual disability, speech disorder Tags
Green Green List (high evidence)	LINS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual developmental disorder, autosomal recessive 27, MIM# 614340 Tags
Green Green List (high evidence)	LIPT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Lipoyltransferase 1 deficiency, MIM#616299 Tags
Green Green List (high evidence)	LMBRD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Methylmalonic aciduria and homocystinuria, cblF type, MIM# 277380 Tags treatable
Green Green List (high evidence)	LMBRD2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Developmental delay with variable neurologic and brain abnormalities, MIM# 619694 Global developmental delay Intellectual disability Microcephaly Seizures Abnormality of nervous system morphology Abnormality of the eye Tags
Green Green List (high evidence)	LMNB1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Microcephaly 26, primary, autosomal dominant, MIM# 619179 Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis Leukodystrophy, adult-onset, autosomal dominant, MIM#169500 Tags
Green Green List (high evidence)	LMNB2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Microcephaly 27, primary, autosomal dominant, MIM# 619180 Congenital microcephaly Global developmental delay Intellectual disability Tags
Green Green List (high evidence)	LNPK	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090 Tags
Green Green List (high evidence)	LONP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes CODAS syndrome, MIM#600373 Mitochondrial cytopathy Tags
Green Green List (high evidence)	LRP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Donnai-Barrow syndrome, MIM#222448 Tags
Green Green List (high evidence)	LRPPRC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian), MIM#220111 Tags
Green Green List (high evidence)	LSS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cataract 44, OMIM #616509 Hypotrichosis 14, OMIM #618275 intellectual disability and alopecia 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)	LYRM7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mitochondrial complex III deficiency, nuclear type 8, MIM#615838 Tags
Green Green List (high evidence)	LZTFL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	LZTR1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Noonan syndrome 10, MIM#616564 Noonan syndrome 2, MIM#605275 Tags
Green Green List (high evidence)	MAB21L1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebellar, ocular, craniofacial, and genital syndrome MIM#618479 Tags
Green Green List (high evidence)	MAB21L2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland 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 Phenotypes Lissencephaly 9 with complex brainstem malformation, MIM# 618325 Tags
Green Green List (high evidence)	MADD	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes DEEAH syndrome, MIM#619004 (Developmental Delay With Endocrine, Exocrine, Autonomic, and Hematologic Abnormalities) Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia (NEDDISH), MIM# 619005 Tags
Green Green List (high evidence)	MAF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland 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 Phenotypes Schaaf-Yang syndrome, MIM# 615547 Tags
Green Green List (high evidence)	MAN1B1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal recessive 15, MIM#614202 Tags
Green Green List (high evidence)	MAN2B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mannosidosis, alpha-, types I and II, MIM# 248500 MONDO:0009561 Tags treatable
Green Green List (high evidence)	MAN2C1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of deglycosylation 2, MIM# 619775 Tags
Green Green List (high evidence)	MANBA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mannosidosis, beta, MIM# 248510 MONDO:0009562 Tags
Green Green List (high evidence)	MAOA	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Brunner syndrome, MIM# 300615 Tags
Green Green List (high evidence)	MAP1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Literature Phenotypes Intellectual disability seizures PVNH dysmorphic features Periventricular nodular heterotopia 9, MIM# 618918 Tags
Green Green List (high evidence)	MAP2K1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	MAP2K2	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	MAP4K4	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes RASopathy, MONDO:0021060, MAP4K4-related Tags
Green Green List (high evidence)	MAPK1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Noonan syndrome 13, MIM#619087 Global developmental delay Intellectual disability Behavioral abnormality Growth delay Abnormality of the face Abnormality of the neck Abnormality of the cardiovascular system Abnormality of the skin Tags
Green Green List (high evidence)	MAPK8IP3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431 Tags
Green Green List (high evidence)	MAPKAPK5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature 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 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 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 OMIM #618273 Tags
Green Green List (high evidence)	MAST3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 108, MIM#620115 Tags
Green Green List (high evidence)	MAST4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO:0700092, MAST4-related Tags
Green Green List (high evidence)	MAT1A	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	MAX	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Polydactyly-macrocephaly syndrome, MIM# 620712 Tags
Green Green List (high evidence)	MBD5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal dominant 1, MIM# 156200 MONDO:0007974 Tags SV/CNV
Green Green List (high evidence)	MBOAT7	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland 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 Genetic Health Queensland Phenotypes IFAP syndrome 1, with or without BRESHECK syndrome MONDO:0100213 Tags
Green Green List (high evidence)	MCM3AP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, MIM#618124 Tags
Green Green List (high evidence)	MCM6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, MCM6-related Tags
Green Green List (high evidence)	MCOLN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mucolipidosis IV, MIM# 252650 MONDO:0009653 Tags SV/CNV
Green Green List (high evidence)	MCPH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Microcephaly 1, primary, autosomal recessive, MIM# 251200 MONDO:0009617 Tags
Green Green List (high evidence)	MDH2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Developmental and epileptic encephalopathy 51 MIM#617339 Tags
Green Green List (high evidence)	MECP2	1 review 1 green	Other	Sources Expert Review Green Genetic Health Queensland Phenotypes Encephalopathy, neonatal severe 300673 XLR Mental retardation, X-linked, syndromic 13 300055 XLR Rett syndrome 312750 XLD Tags
Green Green List (high evidence)	MED11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, MIM# 620327 Tags
Green Green List (high evidence)	MED12	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 Phenotypes MED12-related intellectual disability syndrome MONDO:0100000 Tags
Green Green List (high evidence)	MED12L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Intellectual disability Seizures Autism Tags
Green Green List (high evidence)	MED13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual developmental disorder 61, MIM# 618009 Tags
Green Green List (high evidence)	MED13L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes syndromic intellectual disability MONDO:0000508 Tags
Green Green List (high evidence)	MED17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Victorian Clinical Genetics Services Phenotypes Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668 Tags
Green Green List (high evidence)	MED23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes syndromic intellectual disability MONDO:0000508 Tags
Green Green List (high evidence)	MED25	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449 Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643 Tags founder
Green Green List (high evidence)	MED27	2 reviews 2 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 Phenotypes Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443 MONDO:0013266 Tags 5'UTR SV/CNV
Green Green List (high evidence)	MEGF8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Carpenter syndrome 2 OMIM #614976 Tags
Green Green List (high evidence)	MEIS2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Cleft palate, cardiac defects, and mental retardation (MIM#600987) Tags
Green Green List (high evidence)	METTL23	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mental retardation, autosomal recessive 44 OMIM#615942 Tags
Green Green List (high evidence)	METTL5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Intellectual developmental disorder, autosomal recessive 72, MIM# 618665 Tags
Green Green List (high evidence)	MFF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2, MIM# 617086 Tags
Green Green List (high evidence)	MFSD2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Microcephaly 15, primary, autosomal recessive, MIM# 616486 Tags
Green Green List (high evidence)	MFSD8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Ceroid lipofuscinosis, neuronal, 7, MIM# 610951 MONDO:0012588 Tags
Green Green List (high evidence)	MGAT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Congenital disorder of glycosylation, type IIa, MIM# 212066 MGAT2-CDG, MONDO:0008908 Tags
Green Green List (high evidence)	MICU1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Myopathy with extrapyramidal signs, MIM# 615673 Tags founder
Green Green List (high evidence)	MID1	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 Phenotypes X-linked Opitz G/BBB syndrome MONDO:0010222 Tags
Green Green List (high evidence)	MIR17HG	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Feingold syndrome 2 OMIM #614326 Tags SV/CNV
Green Green List (high evidence)	MKKS	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	MKS1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	MLC1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	MLYCD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Malonyl-CoA decarboxylase deficiency, MIM# 248360 Tags treatable
Green Green List (high evidence)	MMAA	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags treatable
Green Green List (high evidence)	MMAB	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags treatable
Green Green List (high evidence)	MMACHC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400 Tags treatable
Green Green List (high evidence)	MMADHC	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags treatable
Green Green List (high evidence)	MN1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes CEBALID syndrome, MIM#618774 Intellectual disability dysmophic features rhombencephalosynapsis Tags
Green Green List (high evidence)	MOCS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Molybdenum cofactor deficiency A, MIM# 252150 Tags treatable
Green Green List (high evidence)	MOCS2	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	MOGS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Congenital disorder of glycosylation, type IIb, MIM# 606056 Tags
Green Green List (high evidence)	MORC2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090 Intellectual disability Tags
Green Green List (high evidence)	MPDU1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland 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 Phenotypes Hydrocephalus, congenital, 2, with or without brain or eye anomalies OMIM #615219 Tags
Green Green List (high evidence)	MPLKIP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Trichothiodystrophy 4, nonphotosensitive, MIM# 234050 MONDO:0021013 Tags
Green Green List (high evidence)	MPP5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Global developmental delay Intellectual disability Delayed speech and language development Developmental regression Behavioral abnormality Tags
Green Green List (high evidence)	MPV17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Charcot-Marie-Tooth disease, axonal, type 2EE, OMIM #618400 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), OMIM #256810 Tags
Green Green List (high evidence)	MRPS22	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	MRPS34	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 32, MIM# 617664 Tags
Green Green List (high evidence)	MSL3	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 Phenotypes Basilicata-Akhtar syndrome, OMIM # 301032 Tags
Green Green List (high evidence)	MSMO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Microcephaly, congenital cataract, and psoriasiform dermatitis, MIM# 616834 MONDO:0014793 Tags
Green Green List (high evidence)	MTFMT	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	MTHFR	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	MTHFS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367 Tags
Green Green List (high evidence)	MTO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 10 OMIM #614702 Tags
Green Green List (high evidence)	MTOR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Smith-Kingsmore syndrome, MIM# 616638 Focal cortical dysplasia, type II, somatic, MIM# 607341 Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, MONDO:0100283 Tags
Green Green List (high evidence)	MTR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940 Tags
Green Green List (high evidence)	MTRR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Homocystinuria-megaloblastic anaemia, cbl E type, MIM# 236270 Tags
Green Green List (high evidence)	MTSS1L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086 Tags
Green Green List (high evidence)	MUT	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags treatable
Green Green List (high evidence)	MVK	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	MYCBP2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related corpus callosum abnormalities Tags
Green Green List (high evidence)	MYCN	1 review 1 green	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	MYH10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Phenotypes AD complex neurodevelopmental disorder with or without congenital anomalies (MONDO:0100465) Tags
Green Green List (high evidence)	MYO5A	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	MYT1L	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal dominant 39, MIM# 616521 Tags SV/CNV
Green Green List (high evidence)	NAA10	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 Phenotypes Microphthalmia, syndromic 1, MIM# 309800 Ogden syndrome MIM#300855 Tags 5'UTR
Green Green List (high evidence)	NAA15	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities - MIM#617787 Tags
Green Green List (high evidence)	NAA20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal recessive 73, MIM# 619717 Tags
Green Green List (high evidence)	NACC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination - MIM#617393 Tags
Green Green List (high evidence)	NAE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, MIM# 620210 Tags
Green Green List (high evidence)	NAGA	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	NAGLU	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	NALCN	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	NANS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Spondyloepimetaphyseal dysplasia, Camera-Genevieve type - MIM#610442 Tags
Green Green List (high evidence)	NAPB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 107 MIM#620033 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 (NEDMILG), MIM#619091 Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092 Abnormal muscle tone Microcephaly Global developmental delay Intellectual disability Seizures Ataxia Abnormality of the face Demyelinating peripheral neuropathy Tags new gene name
Green Green List (high evidence)	NBEA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157 Intellectual disability Seizures Tags
Green Green List (high evidence)	NCAPD2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes ?Microcephaly 21, primary, autosomal recessive OMIM #617983 Tags
Green Green List (high evidence)	NCDN	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with infantile epileptic spasms (NEDIES), MIM#619373 Tags
Green Green List (high evidence)	NCKAP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder (MONDO#0700092), NCKAP1-related Tags
Green Green List (high evidence)	NDE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Lissencephaly 4 (with microcephaly), MIM# 614019 MONDO:0013527 Microhydranencephaly, MIM# 605013 MONDO:0011504 Tags
Green Green List (high evidence)	NDP	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Norrie disease MONDO:0010691 Tags
Green Green List (high evidence)	NDST1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal recessive 46 - MIM#616116 Tags
Green Green List (high evidence)	NDUFA1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	NDUFA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mitochondrial complex I deficiency, nuclear type 13, MIM#618235 Tags
Green Green List (high evidence)	NDUFAF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mitochondrial complex I deficiency, nuclear type 11, MIM#618234 Tags
Green Green List (high evidence)	NDUFS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mitochondrial complex I deficiency, nuclear type 5, MIM# 618226 Tags
Green Green List (high evidence)	NDUFS4	1 review 1 green	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	NDUFS7	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	NDUFS8	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	NDUFV1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	NEDD4L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Periventricular nodular heterotopia 7, MIM#617201 Tags
Green Green List (high evidence)	NEMF	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, MIM# 619099 Intellectual disability neuropathy Tags
Green Green List (high evidence)	NEU1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	NEUROD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 72, MIM# 618374 Intellectual disability Tags
Green Green List (high evidence)	NEUROG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469 Tags
Green Green List (high evidence)	NEXMIF	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 Phenotypes Mental retardation, X-linked 98, MIM# 300912 Tags
Green Green List (high evidence)	NF1	1 review 1 green	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	NFASC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with central and peripheral motor dysfunction OMIM #618356 Tags
Green Green List (high evidence)	NFIA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland 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 list Expert Review Green Phenotypes Macrocephaly, acquired, with impaired intellectual development, MIM#618286 Tags
Green Green List (high evidence)	NFIX	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	NFU1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711 Tags
Green Green List (high evidence)	NGLY1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	NHS	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 Phenotypes Nance-Horan syndrome - MIM#302350 Cataract 40, X-linked - MIM#302200 Tags
Green Green List (high evidence)	NIPBL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Cornelia de Lange syndrome 1, MIM # 122470 Tags
Green Green List (high evidence)	NKAP	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 Phenotypes Intellectual disability Tags
Green Green List (high evidence)	NKX2-1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	NLGN3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes X-linked complex neurodevelopmental disorder MONDO:0100148 {Asperger syndrome susceptibility, X-linked 1} - MIM#300494 {Autism susceptibility, X-linked 1} - MIM#300425 Tags
Green Green List (high evidence)	NLGN4X	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, X-linked, MIM# 300495 Tags
Green Green List (high evidence)	NONO	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual developmental disorder, X-linked syndromic 34 - MIM#300967 Tags
Green Green List (high evidence)	NOTCH1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related Tags
Green Green List (high evidence)	NOTCH3	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes neurodevelopmental disorder MONDO:0700092, NOTCH3-related Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM#125310 Tags
Green Green List (high evidence)	NOVA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability autism hypotonia spasticity ataxia Tags
Green Green List (high evidence)	NPC1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	NPC2	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	NPHP1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	NPHP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Meckel syndrome 7, MIM# 267010 Tags
Green Green List (high evidence)	NR2F1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722 Tags
Green Green List (high evidence)	NR2F2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Syndromic disease, MONDO:0002254, NR2F2-related Tags
Green Green List (high evidence)	NR4A2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, MIM# 619911 Tags
Green Green List (high evidence)	NRAS	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	NRCAM	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, MIM# 619833 Tags
Green Green List (high evidence)	NRROS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes neurodegeneration intracranial calcification epilepsy Tags
Green Green List (high evidence)	NRXN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Pitt-Hopkins-like syndrome 2 - MIM#614325 Tags
Green Green List (high evidence)	NSD1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Sotos syndrome MONDO:0019349 Tags
Green Green List (high evidence)	NSD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Rauch-Steindl syndrome, MIM# 619695 Microcephaly intellectual disability Neurodevelopmental disorder, NSD2-associated, GoF, MONDO:0700092 Tags
Green Green List (high evidence)	NSDHL	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes CK syndrome (MIM#300831) Tags
Green Green List (high evidence)	NSRP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epilepsy Cerebral palsy microcephaly Intellectual disability Tags
Green Green List (high evidence)	NSUN2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal recessive 5 - MIM#611091 Tags
Green Green List (high evidence)	NSUN6	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal recessive 82, MIM# 620779 Tags
Green Green List (high evidence)	NT5C2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Spastic paraplegia 45, autosomal recessive, MIM# 613162 MONDO:0013165 Tags
Green Green List (high evidence)	NTNG2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability autism dysmorphic features Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718 Tags
Green Green List (high evidence)	NTRK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Insensitivity to pain, congenital, with anhidrosis - MIM#256800 Tags
Green Green List (high evidence)	NTRK2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Obesity, hyperphagia, and developmental delay, MIM# 613886 Tags
Green Green List (high evidence)	NUBPL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland 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 list Expert Review Green Phenotypes Muscular hypotonia Global developmental delay Intellectual disability Polyneuropathy Tags
Green Green List (high evidence)	NUP188	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Sandestig-Stefanova syndrome, 618804 microcephaly ID cataract structural brain abnormalities hypoventilation Tags
Green Green List (high evidence)	NUP214	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes {Encephalopathy, acute, infection-induced, susceptibility to, 9}, MIM# 618426 epileptic encephalopathy developmental regression microcephaly Tags
Green Green List (high evidence)	NUS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Mental retardation, autosomal dominant 55, with seizures, MIM# 617831 Tags
Green Green List (high evidence)	OCLN	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland 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 Genetic Health Queensland Phenotypes oculocerebrorenal syndrome MONDO:0010645 Tags
Green Green List (high evidence)	ODC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with alopecia and brain imaging abnormalities (NEDABIA), MIM#619075 Tags
Green Green List (high evidence)	OFD1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes ciliopathy MONDO:0005308 Tags
Green Green List (high evidence)	OGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Oxoglutarate dehydrogenase deficiency, MIM# 203740 Tags
Green Green List (high evidence)	OGDHL	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Yoon-Bellen neurodevelopmental syndrome, MIM# 619701 Neurodevelopmental disorder featuring epilepsy, hearing loss and visual impairment Tags
Green Green List (high evidence)	OGT	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, X-linked 106, MIM# 300997 Tags
Green Green List (high evidence)	OPA3	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland 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 Genetic Health Queensland Phenotypes Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, MIM#300486 Tags
Green Green List (high evidence)	OSGEP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Galloway-Mowat syndrome 3, MIM# 617729 Tags
Green Green List (high evidence)	OTC	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Ornithine transcarbamylase deficiency, MIM#311250 Tags treatable
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 Literature Phenotypes Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, MIM# 301056 Tags
Green Green List (high evidence)	OTUD6B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452 Tags
Green Green List (high evidence)	OTX2	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	OXR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability seizures cerebellar atrophy Tags
Green Green List (high evidence)	P4HTM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities OMIM #618493 Tags
Green Green List (high evidence)	PABPC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, PABPC1-related (MONDO#0700092) Tags
Green Green List (high evidence)	PACS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland 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 Review Green Genetic Health Queensland Phenotypes Epileptic encephalopathy, early infantile, 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 Phenotypes Lissencephaly 1, MIM# 607432 Subcortical laminar heterotopia, MIM# 607432 MONDO:0011830 Tags SV/CNV
Green Green List (high evidence)	PAH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Phenylketonuria, MIM#261600 Tags treatable
Green Green List (high evidence)	PAK1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with macrocephaly, seizures, and speech delay OMIM #618158 Tags
Green Green List (high evidence)	PAK2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Knobloch 2 syndrome MIM#618458 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 Phenotypes Mental retardation, X-linked 30/47, MIM# 300558 Intellectual disability Tags
Green Green List (high evidence)	PAM16	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, MIM#613320 Tags
Green Green List (high evidence)	PAN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Syndromic disease MONDO:0002254 Tags
Green Green List (high evidence)	PARN	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland 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)	PAX5	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, PAX5-related Hypogammaglobulinaemia Tags
Green Green List (high evidence)	PAX6	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	PAX8	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	PBX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM #617641 Tags
Green Green List (high evidence)	PC	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	PCCA	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags treatable
Green Green List (high evidence)	PCCB	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags treatable
Green Green List (high evidence)	PCDH12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM#251280 Tags
Green Green List (high evidence)	PCDH19	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	PCDHGC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with poor growth and skeletal anomalies, MIM# 619880 Tags
Green Green List (high evidence)	PCGF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Turnpenny-Fry syndrome, MIM# 618371 Tags
Green Green List (high evidence)	PCNT	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	PCYT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Global developmental delay with regression spastic para- or tetra paresis epilepsy progressive cerebral and cerebellar atrophy Tags
Green Green List (high evidence)	PDE10A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Dyskinesia, limb and orofacial, infantile-onset, MIM#616921 Tags
Green Green List (high evidence)	PDE4D	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland 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 Genetic Health Queensland Phenotypes Joubert syndrome 22, MIM#615665 Tags
Green Green List (high evidence)	PDGFRB	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	PDHA1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	PDHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Pyruvate dehydrogenase E1-beta deficiency, MIM#614111 Tags
Green Green List (high evidence)	PDHX	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	PDP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Pyruvate dehydrogenase phosphatase deficiency, MIM#608782 Tags
Green Green List (high evidence)	PDSS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Coenzyme Q10 deficiency, primary, 2 MIM#614651 Tags
Green Green List (high evidence)	PDSS2	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	PDZD8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with autism and dysmorphic facies, MIM# 620021 Tags
Green Green List (high evidence)	PEPD	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	PET100	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055 Tags founder
Green Green List (high evidence)	PEX1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	PEX10	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	PEX11B	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	PEX12	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	PEX13	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	PEX14	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	PEX16	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	PEX19	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	PEX2	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	PEX26	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	PEX3	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	PEX5	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	PEX6	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	PEX7	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	PGAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland 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 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 Phenotypes Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318 Tags
Green Green List (high evidence)	PGK1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Phosphoglycerate kinase 1 deficiency, MIM# 300653 MONDO:0010392 Tags
Green Green List (high evidence)	PGM2L1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder Tags
Green Green List (high evidence)	PGM3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Immunodeficiency 23, MIM# 615816 PGM3-CDG, MONDO:0014353 Tags
Green Green List (high evidence)	PHACTR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 70, MIM# 618298 PHACTR1-associated neurodevelopment disorder Tags
Green Green List (high evidence)	PHF21A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, MIM# 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)	PHF6	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Borjeson-Forssman-Lehmann syndrome, MIM# 301900 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 Phenotypes Mental retardation syndrome, X-linked, Siderius type, MIM#300263 Tags
Green Green List (high evidence)	PHGDH	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	PHIP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Chung-Jansen syndrome, MIM#617991 Tags
Green Green List (high evidence)	PI4K2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, MIM# 620732 Tags
Green Green List (high evidence)	PI4KA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental syndrome with hypomyelinating leukodystrophy Tags
Green Green List (high evidence)	PIBF1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome 33, OMIM #617767 Tags
Green Green List (high evidence)	PIDD1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827 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 Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466 Neurodevelopmental disorder with epilepsy and haemochromatosis, MIM# 301072 Tags
Green Green List (high evidence)	PIGB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 80, MIM# 618580 Tags
Green Green List (high evidence)	PIGC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Glycosylphosphatidylinositol biosynthesis defect 16, MIM# 617816 Tags
Green Green List (high evidence)	PIGG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal recessive 53, MIM#616917 Tags
Green Green List (high evidence)	PIGH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Glycosylphosphatidylinositol biosynthesis defect 17, MIM#618010 Tags
Green Green List (high evidence)	PIGK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879 Tags
Green Green List (high evidence)	PIGL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes CHIME syndrome, MIM# 280000, MONDO:0010221 Tags founder SV/CNV
Green Green List (high evidence)	PIGN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563 Tags
Green Green List (high evidence)	PIGO	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882 Tags
Green Green List (high evidence)	PIGP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 55, 617599 Tags
Green Green List (high evidence)	PIGQ	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 77 (MIM #618548) Tags
Green Green List (high evidence)	PIGS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Glycosylphosphatidylinositol biosynthesis defect 18, MIM# 618143 Tags
Green Green List (high evidence)	PIGT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165 Tags
Green Green List (high evidence)	PIGU	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Glycosylphosphatidylinositol biosynthesis defect 21 OMIM #618590 Tags
Green Green List (high evidence)	PIGV	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398 Tags
Green Green List (high evidence)	PIGW	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025 Tags
Green Green List (high evidence)	PIK3C2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Oculoskeletodental syndrome, 618440 Tags
Green Green List (high evidence)	PIK3CA	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	PIK3R2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM# 603387 Tags
Green Green List (high evidence)	PIP5K1C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Neurodevelopmental disorder and microcephaly, MONDO:0700092, PIP5K1C-related Tags
Green Green List (high evidence)	PISD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability cataracts retinal degeneration microcephaly deafness short stature white matter abnormalities no OMIM number yet. Tags
Green Green List (high evidence)	PITRM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia-30 (SCAR30), MIM#619405 intellectual disability cognitive decline psychosis Tags
Green Green List (high evidence)	PLA2G16	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lipodystrophy, familial partial, type 9, MIM# 620683 Tags new gene name
Green Green List (high evidence)	PLA2G6	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	PLAA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, MIM# 617527 Tags
Green Green List (high evidence)	PLCB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Epileptic encephalopathy, early infantile, 12 (MIM#613722) Tags SV/CNV
Green Green List (high evidence)	PLK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epilepsy microcephaly intellectual disability Tags
Green Green List (high evidence)	PLK4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171 Tags
Green Green List (high evidence)	PLP1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Pelizeaus-Merzbacher spectrum disorder MONDO:0010714 Tags
Green Green List (high evidence)	PLPBP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Epilepsy, early-onset, vitamin B6-dependent, MIM# 617290 Tags
Green Green List (high evidence)	PLXNA1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955 Tags
Green Green List (high evidence)	PLXNB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Syndromic disease MONDO:0002254, PLXNB2 -related Tags
Green Green List (high evidence)	PMM2	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	PMPCA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200 Tags
Green Green List (high evidence)	PMPCB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Multiple mitochondrial dysfunctions syndrome 6, MIM# 617954 Tags
Green Green List (high evidence)	PNKP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Microcephaly, seizures, and developmental delay, MIM#613402 Tags
Green Green List (high evidence)	PNPLA6	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	PNPT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Combined oxidative phosphorylation deficiency 13, MIM#614932 Tags
Green Green List (high evidence)	POGZ	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes White-Sutton syndrome, MIM# 616364 MONDO:0014606 Tags
Green Green List (high evidence)	POLA1	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 Van Esch-O'Driscoll syndrome OMIM# 301030 Tags
Green Green List (high evidence)	POLG	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	POLR1A	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Acrofacial dysostosis, Cincinnati type MIM#616462 Leukodystrophy, hypomyelinating, 27, MIM# 620675 Tags
Green Green List (high evidence)	POLR1C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 11, MIM# 616494 Tags
Green Green List (high evidence)	POLR2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, MIM# 618603 Tags
Green Green List (high evidence)	POLR3A	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	POLR3B	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	POLRMT	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 55, MIM# 619743 intellectual disability hypotonia Tags
Green Green List (high evidence)	POMGNT1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	POMGNT2	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	POMK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM#615249 Tags
Green Green List (high evidence)	POMT1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	POMT2	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland 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 Genetic Health Queensland Phenotypes focal dermal hypoplasia MONDO:0010592 Tags
Green Green List (high evidence)	POU3F2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Autism spectrum disorder, NDD, and adolescent-onset obesity neurodevelopmental disorder MONDO:0700092, POU3F2-related Tags
Green Green List (high evidence)	POU3F3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Snijders Blok-Fisher syndrome MIM#618604 Tags
Green Green List (high evidence)	PPFIA3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, PPFIA3-related Tags
Green Green List (high evidence)	PPFIBP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024 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)	PPM1D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Jansen de Vries syndrome (MIM #617450) Tags
Green Green List (high evidence)	PPP1CB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland 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 Review Green Research Phenotypes Intellectual disability holoprosencephaly disorder of sex development Tags
Green Green List (high evidence)	PPP1R21	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hypotonia intellectual disability white matter abnormalities Tags
Green Green List (high evidence)	PPP1R3F	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related Tags
Green Green List (high evidence)	PPP2CA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder and language delay with or without structural brain abnormalities OMIM #618354 Tags
Green Green List (high evidence)	PPP2R1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland 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)	PPP2R5C	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Research Phenotypes Neurodevelopmental disorder, PPP2R5C-related (MONDO:070092) macrocephaly intellectual disability Tags
Green Green List (high evidence)	PPP2R5D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal dominant 35, MIM#616355 Tags
Green Green List (high evidence)	PPP3CA	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	PPT1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland 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 Phenotypes Renpenning syndrome, MIM#309500 Tags
Green Green List (high evidence)	PRDM13	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pontocerebellar hypoplasia, type 17, MIM# 619909 Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761 Tags founder
Green Green List (high evidence)	PRKAR1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Acrodysostosis 1, with or without hormone resistance, MIM#101800 Tags
Green Green List (high evidence)	PRKAR1B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Marbach-Schaaf neurodevelopmental syndrome MIM#619680 Global developmental delay Intellectual disability Autism Attention deficit hyperactivity disorder Aggressive behavior Abnormality of movement Upslanted palpebral fissure Tags
Green Green List (high evidence)	PRMT7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Short stature, brachydactyly, intellectual developmental disability, and seizures, MIM# 617157 Tags
Green Green List (high evidence)	PRODH	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	PRPF19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO:0700092), PRPF19-related Tags
Green Green List (high evidence)	PRPF8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, PRPF8-related Retinitis pigmentosa 13 - MIM#600059 Tags
Green Green List (high evidence)	PRPS1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	PRR12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neuroocular syndrome, MIM#619539 Intellectual disability Iris abnormalities Complex microphthalmia Tags
Green Green List (high evidence)	PRUNE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies , MIM#617481 Tags
Green Green List (high evidence)	PSAP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Metachromatic leukodystrophy due to SAP-b deficiency, MIM#249900 Tags
Green Green List (high evidence)	PSMC3	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder, MONDO:0700092, PSMC3-related Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354 Tags
Green Green List (high evidence)	PSMC5	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), PSMC5-related Tags
Green Green List (high evidence)	PSMD11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, PSMD11-related Tags
Green Green List (high evidence)	PSMD12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Stankiewicz-Isidor syndrome, MIM# 617516 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	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	PTCD3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency-51, MIM#619057 Intellectual disability optic atrophy Leigh-like syndrome Tags
Green Green List (high evidence)	PTCH1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	PTCHD1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes non-syndromic X-linked intellectual disability MONDO:0019181 Tags
Green Green List (high evidence)	PTDSS1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	PTEN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Cowden syndrome 1 MIM#158350 Macrocephaly/autism syndrome MIM#605309 PTEN hamartoma tumor syndrome MONDO:0017623 Tags
Green Green List (high evidence)	PTF1A	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	PTPN11	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	PTPN23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual disability brain abnormalities seizures optic atrophy microcephaly Tags
Green Green List (high evidence)	PTPN4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, PTPN4-related Tags
Green Green List (high evidence)	PTRH2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, MIM# 616263 Tags
Green Green List (high evidence)	PTRHD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, MIM# 620747 Tags
Green Green List (high evidence)	PTS	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags treatable
Green Green List (high evidence)	PUF60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Verheij syndrome, MIM# 615583 Tags
Green Green List (high evidence)	PUM1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM# 620719 Tags
Green Green List (high evidence)	PURA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158) Tags
Green Green List (high evidence)	PUS1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	PUS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with microcephaly and gray sclerae, MIM# 617051 Tags
Green Green List (high evidence)	PUS7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature OMIM #618342 Tags
Green Green List (high evidence)	PYCR1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	PYCR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Leukodystrophy, hypomyelinating, 10, MIM# 616420 Tags
Green Green List (high evidence)	QARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760 Tags
Green Green List (high evidence)	QDPR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630 Tags treatable
Green Green List (high evidence)	QRICH1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Ververi-Brady syndrome, MIM#617982 Tags
Green Green List (high evidence)	RAB11A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability seizures Tags
Green Green List (high evidence)	RAB11B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807 Tags
Green Green List (high evidence)	RAB18	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	RAB23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Carpenter syndrome (MIM#201000) Tags
Green Green List (high evidence)	RAB39B	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual developmental disorder, X-linked 72, OMIM:300271 Waisman syndrome, OMIM:311510 Tags
Green Green List (high evidence)	RAB3GAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Warburg micro syndrome 1, MIM# 600118 Martsolf syndrome 2, MIM# 619420 Tags
Green Green List (high evidence)	RAB3GAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Martsolf syndrome (MIM212720) Warburg micro syndrome 2 (MIM#614225) Tags
Green Green List (high evidence)	RAB5C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, RAB5C-related Tags
Green Green List (high evidence)	RABGAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, RABGAP1-related,MONDO:0700092 Tags
Green Green List (high evidence)	RAC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal dominant 48, MIM# 617751 Tags
Green Green List (high evidence)	RAC3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, MIM#618577 Tags
Green Green List (high evidence)	RAD21	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Cornelia de Lange syndrome 4, MIM # 614701 Tags
Green Green List (high evidence)	RAF1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	RAI1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Smith-Magenis syndrome (MIM#182290) Tags
Green Green List (high evidence)	RALA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Hiatt-Neu-Cooper neurodevelopmental syndrome, MIM# 619311 Intellectual disability short stature dysmorphism Tags
Green Green List (high evidence)	RALGAPA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability hypotonia infantile spasms. Tags
Green Green List (high evidence)	RAP1B	2 reviews 1 green 1 red	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)	RAP1GDS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Alfadhel syndrome, MIM# 620655 Tags
Green Green List (high evidence)	RARB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Microphthalmia, syndromic 12, MIM# 615524 Tags
Green Green List (high evidence)	RARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 9 MIM# 616140 Tags
Green Green List (high evidence)	RARS2	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	RBBP8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Jawad syndrome, MIM#251255 Seckel syndrome 2, MIM#606744 Tags
Green Green List (high evidence)	RBFOX1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder (MONDO:0700092), RBFOX1-related Tags
Green Green List (high evidence)	RBL2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability Brunet-Wagner neurodevelopmental syndrome MIM#619690 Tags
Green Green List (high evidence)	RBM10	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes TARP syndrome, 311900 (3), X-linked recessive Tags
Green Green List (high evidence)	RBSN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes intellectual disability, MONDO:0001071 Tags
Green Green List (high evidence)	RELN	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Lissencephaly 2 (Norman-Roberts type), MIM# 257320 Tags
Green Green List (high evidence)	RERE	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975 Tags
Green Green List (high evidence)	RFT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Congenital disorder of glycosylation, type In, MIM# 612015 RFT1-CDG, MONDO:0012783 Tags
Green Green List (high evidence)	RFX3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes ID, ASD, ADHD Tags
Green Green List (high evidence)	RFX4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes ID, ASD, ADHD Tags
Green Green List (high evidence)	RFX7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities, MIM# 620330 Tags
Green Green List (high evidence)	RHEB	1 review 1 green	Other	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder MONDO:0700092, RHEB-related Intellectual disability Macrocephaly Focal cortical dysplasia Tags
Green Green List (high evidence)	RHOBTB2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 64, MIM#618004 Tags
Green Green List (high evidence)	RIT1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	RLIM	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Tonne-Kalscheuer syndrome, MIM# 300978 Tags
Green Green List (high evidence)	RMND1	1 review 1 green	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	RNASEH2A	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	RNASEH2B	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	RNASEH2C	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	RNASET2	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	RNF113A	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature 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 Genetic Health Queensland Phenotypes Tenorio syndrome - MIM# 616260 Tags
Green Green List (high evidence)	RNF13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 73 618379 Tags
Green Green List (high evidence)	RNF220	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Other Phenotypes Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688 Leukodystrophy CNS hypomyelination Ataxia Intellectual disability Sensorineural hearing impairment Elevated hepatic transaminases Hepatic fibrosis Dilated cardiomyopathy Spastic paraplegia Dysarthria Abnormality of the corpus callosum Tags
Green Green List (high evidence)	RNU4-2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language, MIM# 620851 Tags
Green Green List (high evidence)	RNU4ATAC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Microcephalic osteodysplastic primordial dwarfism, type I, MIM#210710 Roifman syndrome, MIM#616651 Tags
Green Green List (high evidence)	RNU7-1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Aicardi-Goutieres syndrome 9, MIM# 619487 Tags
Green Green List (high evidence)	ROBO1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurooculorenal syndrome, MIM# 620305 Tags
Green Green List (high evidence)	ROGDI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Kohlschutter-Tonz syndrome, MIM# 226750 Tags
Green Green List (high evidence)	ROR2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Robinow syndrome, autosomal recessive, MIM#268310 Tags
Green Green List (high evidence)	RORA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM#618060 Tags
Green Green List (high evidence)	RPGRIP1L	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	RPH3A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), RPH3A-related Tags
Green Green List (high evidence)	RPIA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Ribose 5-phosphate isomerase deficiency, MIM 608611 Tags
Green Green List (high evidence)	RPL10	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, X-linked, syndromic, 35 (MIM#300998) Tags
Green Green List (high evidence)	RPS6KA3	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	RRM2B	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	RSRC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Intellectual developmental disorder, autosomal recessive 70, MIM# 618402 Tags
Green Green List (high evidence)	RTEL1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	RTN4IP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Optic atrophy 10 with or without ataxia, mental retardation, and seizures, MIM#616732 Tags
Green Green List (high evidence)	RTTN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland 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)	SAMD9	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes MIRAGE Syndrome, MIM#617053 Tags
Green Green List (high evidence)	SAMHD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Aicardi-Goutieres syndrome 5, MIM# 612952 Tags
Green Green List (high evidence)	SARS	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO#070009, SARS1-related Tags
Green Green List (high evidence)	SARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845 Tags
Green Green List (high evidence)	SART3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder (MONDO#0700092), SART3-related, with 46,XY gonadal dysgenesis Tags
Green Green List (high evidence)	SASS6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Microcephaly 14, primary, autosomal recessive, MIM# 616402 Tags
Green Green List (high evidence)	SATB1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Kohlschutter-Tonz syndrome-like, MIM# 619229 Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228 Neurodevelopmental disorder intellectual disability epilepsy microcephaly Tags
Green Green List (high evidence)	SATB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Glass syndrome, MIM# 612313 MONDO:0100147 Tags
Green Green List (high evidence)	SBF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Charcot-Marie-Tooth disease, type 4B3, MIM# 615284 MONDO:0014117 Tags
Green Green List (high evidence)	SC5D	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	SCAF4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Phenotypes Fliedner-Zweier syndrome, MIM#620511 Tags
Green Green List (high evidence)	SCAMP5	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability seizures autism Tags
Green Green List (high evidence)	SCAPER	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder and retinitis pigmentosa OMIM #618195 Tags
Green Green List (high evidence)	SCN1A	1 review 1 green	Unknown	Sources Expert Review Green Genetic Health Queensland Phenotypes Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208 Developmental and epileptic encephalopathy 6B, non-Dravet, MIM# 619317 Tags
Green Green List (high evidence)	SCN1B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Epileptic encephalopathy, early infantile, 52, MIM#617350 Tags
Green Green List (high evidence)	SCN2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Developmental and epileptic encephalopathy 11, MIM# 613721 Tags
Green Green List (high evidence)	SCN3A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland 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)	SCN8A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Developmental and epileptic encephalopathy 13, MIM# 614558 Tags
Green Green List (high evidence)	SCO2	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	SDCCAG8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Bardet-Biedl syndrome 16, MIM# 615993 MONDO:0014444 Senior-Loken syndrome 7, MIM# 613615 MONDO:0013326 Nephronophthisis Tags
Green Green List (high evidence)	SDHA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mitochondrial complex II deficiency, nuclear type 1 MIM#252011 Tags
Green Green List (high evidence)	SDHAF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166 Tags
Green Green List (high evidence)	SEL1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, SEL1L-related Tags
Green Green List (high evidence)	SEMA6B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability, MONDO:0001071, SEMA6B related Tags
Green Green List (high evidence)	SEPHS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, SEPHS1-related Tags
Green Green List (high evidence)	SEPSECS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Pontocerebellar hypoplasia type 2D, MIM#613811 Tags
Green Green List (high evidence)	SERAC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL), MIM#614739 Tags
Green Green List (high evidence)	SET	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual developmental disorder, autosomal dominant 58, MIM#618106 intellectual disability, autosomal dominant 58, MONDO:0020847 Tags
Green Green List (high evidence)	SETBP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Schinzel-Giedion syndrome MONDO:0010010 complex neurodevelopmental disorder MONDO:0100038 Tags
Green Green List (high evidence)	SETD1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Epilepsy, early-onset, with or without developmental delay, MIM# 618832 Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056 Tags
Green Green List (high evidence)	SETD1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual developmental disorder with seizures and language delay (IDDSELD), MIM#619000 Tags
Green Green List (high evidence)	SETD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Luscan-Lumish syndrome, MIM#616831 Rabin-Pappas syndrome,MIM# 620155 Intellectual developmental disorder, autosomal dominant 70, MIM# 620157 Tags
Green Green List (high evidence)	SETD5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual disability, autosomal dominant 23 (MIM # 615761) Tags
Green Green List (high evidence)	SFXN4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Combined oxidative phosphorylation deficiency 18, MIM#615578 Tags
Green Green List (high evidence)	SGPL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Sphingosine Phosphate Lyase Insufficiency Syndrome Nephrotic syndrome, type 14, MIM#617575 Tags
Green Green List (high evidence)	SGSH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900 MONDO:0009655 Tags
Green Green List (high evidence)	SHANK1	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder, MONDO:0700092, SHANK1-related Tags
Green Green List (high evidence)	SHANK2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Autism, susceptibility to, 17, MIM#613436 complex neurodevelopmental disorder MONDO:0100038 Tags
Green Green List (high evidence)	SHANK3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Phelan-McDermid syndrome, MIM# 606232 MONDO:0011652 Tags SV/CNV
Green Green List (high evidence)	SHH	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	SHMT2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121 Congenital microcephaly Infantile axial hypotonia Spastic paraparesis Global developmental delay Intellectual disability Abnormality of the corpus callosum Abnormal cortical gyration Hypertrophic cardiomyopathy Abnormality of the face Proximal placement of thumb 2-3 toe syndactyly Tags
Green Green List (high evidence)	SHOC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Noonan syndrome-like with loose anagen hair 1, MIM# 607721 Tags
Green Green List (high evidence)	SIAH1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Buratti-Harel syndrome, MIM# 619314 Developmental delay Infantile hypotonia Dysmorphic features Laryngomalacia Tags
Green Green List (high evidence)	SIK1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Developmental and epileptic encephalopathy 30, MIM#616341 developmental and epileptic encephalopathy, MONDO#0100062 Tags
Green Green List (high evidence)	SIL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Marinesco-Sjogren syndrome (MIM#248800) Tags
Green Green List (high evidence)	SIN3A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Witteveen-Kolk syndrome, OMIM # 613406 Tags
Green Green List (high evidence)	SIN3B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Syndromic intellectual disability/autism spectrum disorder Tags
Green Green List (high evidence)	SIX3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Holoprosencephaly 2, autosomal dominant, MIM#157170 Tags
Green Green List (high evidence)	SKI	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	SLC12A2	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Delpire-McNeill syndrome, MIM# 619083 Kilquist syndrome, MIM#619080 deafness intellectual disability dysmorphic features absent salivation ectodermal dysplasia constipation intestinal malrotation multiple congenital anomalies Tags
Green Green List (high evidence)	SLC12A5	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	SLC12A6	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	SLC12A9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, SLC12A9-related Tags
Green Green List (high evidence)	SLC13A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905 MONDO:0014392 Tags
Green Green List (high evidence)	SLC16A2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Allan-Herndon-Dudley syndrome, MIM# 300523 Tags
Green Green List (high evidence)	SLC17A5	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	SLC18A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Parkinsonism-dystonia, infantile, 2, MIM# 618049 Tags
Green Green List (high evidence)	SLC19A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483 Tags
Green Green List (high evidence)	SLC1A2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 41, MIM#617105 Intellectual disability Tags
Green Green List (high evidence)	SLC1A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657 MONDO:0014725 Tags founder
Green Green List (high evidence)	SLC25A1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072 Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596 Tags
Green Green List (high evidence)	SLC25A12	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	SLC25A15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, MIM#238970 Tags
Green Green List (high evidence)	SLC25A22	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	SLC2A1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	SLC30A9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Birk-Landau-Perez syndrome (MIM#617595) Tags
Green Green List (high evidence)	SLC32A1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Generalized epilepsy with febrile seizures plus, type 12, MIM# 620755 Developmental and epileptic encephalopathy 114, MIM# 620774 Tags
Green Green List (high evidence)	SLC33A1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	SLC35A2	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	SLC35C1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953 Tags
Green Green List (high evidence)	SLC38A3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 102, MIM# 619881 Tags
Green Green List (high evidence)	SLC39A14	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	SLC39A8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Congenital disorder of glycosylation, type IIn , MIM#16721 Tags
Green Green List (high evidence)	SLC46A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Folate malabsorption, hereditary, MIM# 229050 Tags
Green Green List (high evidence)	SLC4A10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM# 620746 Tags
Green Green List (high evidence)	SLC4A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Renal tubular acidosis, proximal, with ocular abnormalities MIM#604278 Tags
Green Green List (high evidence)	SLC5A6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental delay epilepsy neurodegeneration Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973 Tags
Green Green List (high evidence)	SLC6A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Myoclonic-atonic epilepsy, MIM#616421 Tags
Green Green List (high evidence)	SLC6A19	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	SLC6A3	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	SLC6A8	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	SLC6A9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Glycine encephalopathy with normal serum glycine 617301 Tags
Green Green List (high evidence)	SLC9A6	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, X-linked syndromic, Christianson type, MIM# 300243 MONDO:0010278 Tags
Green Green List (high evidence)	SLF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Atelis syndrome 1, MIM# 620184 Tags
Green Green List (high evidence)	SLITRK2	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 Literature Phenotypes Intellectual developmental disorder, X-linked 111, MIM# 301107 Tags
Green Green List (high evidence)	SMAD4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Myhre syndrome MIM#139210 Tags
Green Green List (high evidence)	SMARCA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Nicolaides-Baraitser syndrome, MIM #601358 Blepharophimosis-intellectual disability syndrome, MIM#619293 Tags
Green Green List (high evidence)	SMARCA4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Coffin-Siris syndrome 4 (MIM# 614609) Tags
Green Green List (high evidence)	SMARCA5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder microcephaly dysmorphic features Tags
Green Green List (high evidence)	SMARCB1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Coffin-Siris syndrome 3 (MIM# 614608) MONDO:0015452 Tags
Green Green List (high evidence)	SMARCC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Coffin-Siris syndrome 8 OMIM #618362 Tags
Green Green List (high evidence)	SMARCD1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes no OMIM number yet Tags
Green Green List (high evidence)	SMARCE1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland 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 Genetic Health Queensland Phenotypes 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 Genetic Health Queensland Phenotypes Cornelia de Lange syndrome 3 MONDO:0012555 Tags
Green Green List (high evidence)	SMC5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Atelis syndrome 2, MIM# 620185 Tags
Green Green List (high evidence)	SMG8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Alzahrani-Kuwahara syndrome, MIM# 619268 Intellectual disability Tags
Green Green List (high evidence)	SMG9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Heart and brain malformation syndrome, MIM# 616920 Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies, MIM# 619995 Tags
Green Green List (high evidence)	SMOC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland 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 Phenotypes Niemann-Pick disease, type A, MIM# 257200 MONDO:0009756 Tags
Green Green List (high evidence)	SMPD4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Victorian Clinical Genetics Services Phenotypes Severe neurodevelopmental delay, microcephaly, arthrogryposis Tags
Green Green List (high evidence)	SMS	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583 Syndromic X-linked intellectual disability Snyder type, MONDO:0010664 Tags
Green Green List (high evidence)	SNAP25	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes ?Myasthenic syndrome, congenital, 18 OMIM #616330 Tags
Green Green List (high evidence)	SNAP29	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528) Tags
Green Green List (high evidence)	SNAPC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, MIM# 620515 Tags
Green Green List (high evidence)	SNF8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 115, MIM#620783 Neurodevelopmental disorder plus optic atrophy, MIM# 620784 Tags
Green Green List (high evidence)	SNRPB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Cerebrocostomandibular syndrome, MIM# 117650 Tags
Green Green List (high evidence)	SNX14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354) Tags
Green Green List (high evidence)	SNX27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes intellectual disability seizures Tags
Green Green List (high evidence)	SOD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic tetraplegia and axial hypotonia, progressive, MIM#618598 Tags
Green Green List (high evidence)	SON	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland 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 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 Phenotypes Noonan syndrome 9, MIM# 616559 Tags
Green Green List (high evidence)	SOX10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Peripheral demyelinating neuropathy Central demyelination, Waardenburg and Hirschsprung disease, OMIM #609136 Waardenburg syndrome, type 2E, with or without neurologic involvement (OMIM #611584) Tags
Green Green List (high evidence)	SOX11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, MIM# 615866 Tags
Green Green List (high evidence)	SOX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Microphthalmia, syndromic 3, MIM# 206900 Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900 Tags
Green Green List (high evidence)	SOX4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Coffin-Siris syndrome 10 OMIM #618506 Tags
Green Green List (high evidence)	SOX5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Lamb-Shaffer syndrome, MIM#616803 Tags SV/CNV
Green Green List (high evidence)	SOX6	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes ADHD Craniosynostosis Osteochondromas Tolchin-Le Caignec syndrome, MIM#618971 Tags
Green Green List (high evidence)	SOX9	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	SP9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO:0700092 Tags
Green Green List (high evidence)	SPART	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Troyer syndrome OMIM #275900 Tags
Green Green List (high evidence)	SPATA5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities MIM#616577 Tags
Green Green List (high evidence)	SPATA5L1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616 Tags
Green Green List (high evidence)	SPECC1L	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Teebi hypertelorism syndrome 1, MIM# 145420 Tags
Green Green List (high evidence)	SPEN	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Radio-Tartaglia syndrome, MIM# 619312 Intellectual disability autism congenital anomalies Tags
Green Green List (high evidence)	SPG11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Spastic paraplegia 11, autosomal recessive 604360 Tags
Green Green List (high evidence)	SPOP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability dysmorphism microcephaly macrocephaly Tags
Green Green List (high evidence)	SPR	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716 Tags
Green Green List (high evidence)	SPRED1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Legius syndrome, MIM# 611431 Tags
Green Green List (high evidence)	SPRED2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Noonan syndrome 14, MIM# 619745 Tags
Green Green List (high evidence)	SPTAN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Developmental and epileptic encephalopathy 5, MIM# 613477 Tags
Green Green List (high evidence)	SPTBN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Developmental delay, impaired speech, and behavioural abnormalities, MIM# 619475 Tags
Green Green List (high evidence)	SPTBN2	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	SPTBN4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness MIM#617519 Tags
Green Green List (high evidence)	SRCAP	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Floating-Harbor syndrome MIM#136140 Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, MIM# 619595 Tags
Green Green List (high evidence)	SRD5A3	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	SRRM2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal dominant 72, MIM# 620439 Tags
Green Green List (high evidence)	SRSF1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, MIM# 620489 Tags
Green Green List (high evidence)	SSR4	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Congenital disorder of glycosylation, type Iy, MIM# 300934 Tags
Green Green List (high evidence)	ST3GAL3	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	ST3GAL5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Salt and pepper developmental regression syndrome 609056 GM3 synthase deficiency, MONDO:0018274 Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Tags founder
Green Green List (high evidence)	STAG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal dominant 47, MIM# 617635 Tags
Green Green List (high evidence)	STAG2	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 list Expert Review Green Phenotypes Mullegama-Klein-Martinez syndrome, MIM#301022 Tags
Green Green List (high evidence)	STAMBP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Microcephaly-capillary malformation syndrome, MIM# 614261 MONDO:0013659 Tags
Green Green List (high evidence)	STIL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Microcephaly 7, primary, autosomal recessive, MIM# 612703 MONDO:0012989 Tags
Green Green List (high evidence)	STRA6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Matthew-Wood syndrome MONDO:0011010 Tags
Green Green List (high evidence)	STRADA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, MIM# 611087 Tags
Green Green List (high evidence)	STT3A	3 reviews 2 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Congenital disorder of glycosylation, type Iw, AR, OMIM #615596 Congenital disorder of glycosylation, type Iw, autosomal dominant, MIM# 619714 Tags
Green Green List (high evidence)	STX1A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO#0700092, STX1A-related Tags
Green Green List (high evidence)	STX1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Generalized epilepsy with febrile seizures plus, type 9, MIM# 616172 Tags
Green Green List (high evidence)	STXBP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes developmental and epileptic encephalopathy, 4 MONDO:0012812 Tags
Green Green List (high evidence)	SUCLA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) OMIM #612073 Tags
Green Green List (high evidence)	SUCLG1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	SUFU	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Joubert syndrome 32, MIM#617757 SUFU-related neurodevelopmental syndrome Tags
Green Green List (high evidence)	SUMF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Multiple sulfatase deficiency OMIM #272200 Tags
Green Green List (high evidence)	SUOX	1 review 1 green	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	SUPT16H	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, MIM# 619480 Intellectual disability Abnormality of the corpus callosum Tags
Green Green List (high evidence)	SURF1	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	SUZ12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Imagawa-Matsumoto syndrome, MIM# 618786 Intellectual disability Overgrowth Tags
Green Green List (high evidence)	SVBP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly OMIM #618569 Tags founder
Green Green List (high evidence)	SYN1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes X-linked complex neurodevelopmental disorder MONDO:0100148 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders MONDO:0010339 Tags
Green Green List (high evidence)	SYNCRIP	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Global developmental delay Intellectual disability Autism Myoclonic atonic seizures Abnormality of nervous system morphology Tags
Green Green List (high evidence)	SYNGAP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual disability, autosomal dominant 5 (MIM # 612621) Tags
Green Green List (high evidence)	SYNJ1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Developmental and epileptic encephalopathy 53, MIM# 617389 Tags
Green Green List (high evidence)	SYP	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, X-linked 96 MIM#300802 Tags
Green Green List (high evidence)	SYT1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Baker-Gordon syndrome, MIM# 618218 MONDO:0033864 Tags
Green Green List (high evidence)	SZT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	TAB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Congenital heart defects, multiple types, 2 MONDO:0014000 Tags
Green Green List (high evidence)	TAF1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, X-linked, syndromic 33, MIM# 300966 Tags
Green Green List (high evidence)	TAF2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal recessive 40, MIM# 615599 Tags
Green Green List (high evidence)	TAF4	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal dominant 73, MIM# 620450 Tags
Green Green List (high evidence)	TAF6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Alazami-Yuan syndrome, MIM# 617126 Tags
Green Green List (high evidence)	TAF8	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, MIM# 619972 Tags
Green Green List (high evidence)	TANC2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability autism epilepsy dysmorphism Intellectual developmental disorder with autistic features and language delay, with or without seizures, MIM# 618906 Tags
Green Green List (high evidence)	TANGO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration MONDO:0014812 Tags
Green Green List (high evidence)	TAOK1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Developmental delay with or without intellectual impairment or behavioural abnormalities, MIM#619575 Intellectual disability hypotonia macrocephaly Tags
Green Green List (high evidence)	TARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 21, MIM# 615918 Epilepsy Developmental Delay Tags
Green Green List (high evidence)	TASP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental delay microcephaly dysmorphic features congenital abnormalities Suleiman-El-Hattab syndrome, MIM#618950 Tags
Green Green List (high evidence)	TAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes tyrosinemia type II MONDO:0010160 Tags treatable
Green Green List (high evidence)	TAZ	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Barth syndrome MONDO:0010543 Tags
Green Green List (high evidence)	TBC1D20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Warburg micro syndrome 4 OMIM #615663 Tags
Green Green List (high evidence)	TBC1D23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Pontocerebellar hypoplasia, type 11, MIM# 617695 Tags
Green Green List (high evidence)	TBC1D24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Developmental and epileptic encephalopathy 16, MIM# 615338 DOORS syndrome, MIM# 220500 Tags
Green Green List (high evidence)	TBC1D2B	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO), MIM#619323 Global developmental delay Intellectual disability Seizures Gingival overgrowth Behavioral abnormality Abnormality of the mandible Abnormality of brain morphology Abnormality of the eye Hearing abnormality Tags
Green Green List (high evidence)	TBCD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Genetic Health Queensland Victorian Clinical Genetics Services Phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193 Tags
Green Green List (high evidence)	TBCE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Encephalopathy, progressive, with amyotrophy and optic atrophy MIM:617207 Hypoparathyroidism-retardation-dysmorphism syndrome MIM:241410 Tags
Green Green List (high evidence)	TBCK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900 Tags
Green Green List (high evidence)	TBL1XR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal dominant 41, MIM# 616944 Pierpont syndrome, MIM# 602342 Tags
Green Green List (high evidence)	TBR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual developmental disorder with autism and speech delay, MIM# 606053 Tags
Green Green List (high evidence)	TBX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes DiGeorge syndrome, MIM# 188400 Tags SV/CNV
Green Green List (high evidence)	TCEAL1	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 Literature Phenotypes Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked, MIM# 301094 Tags
Green Green List (high evidence)	TCF20	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Developmental delay with variable intellectual impairment and behavioral abnormalities, AD, MIM#618430 Tags
Green Green List (high evidence)	TCF4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Pitt-Hopkins syndrome MONDO:0012589 Tags
Green Green List (high evidence)	TCF7L2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Global developmental delay Intellectual disability Autism Attention deficit hyperactivity disorder Myopia Abnormality of skeletal system Tags
Green Green List (high evidence)	TCN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Transcobalamin II deficiency, 275350 Tags
Green Green List (high evidence)	TCTN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome 13, MIM# 614173 MONDO:0013608 Tags
Green Green List (high evidence)	TCTN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Joubert syndrome 24, MIM# 616654 MONDO:0014724 Tags
Green Green List (high evidence)	TCTN3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Joubert syndrome 18, OMIM #614815 Orofaciodigital syndrome IV, OMIM #258860 Tags
Green Green List (high evidence)	TDP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 23 OMIM #616949 Tags
Green Green List (high evidence)	TECPR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Spastic paraplegia 49, autosomal recessive, 615031 Autonomic-sensory neuropathy Intellectual disability Tags
Green Green List (high evidence)	TEFM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 58, MIM# 620451 Tags
Green Green List (high evidence)	TELO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes You-Hoover-Fong syndrome, MIM#616954 Syndromic intellectual disability Tags
Green Green List (high evidence)	TENM3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Microphthalmia, syndromic 15, MIM#615145 coloboma Tags
Green Green List (high evidence)	TERT	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Dyskeratosis congenita, autosomal dominant 2, OMIM #613989 Dyskeratosis congenita, autosomal recessive 4, OMIM #613989 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM #614742 Tags
Green Green List (high evidence)	TET3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Beck-Fahrner syndrome MIM#618798 Tags
Green Green List (high evidence)	TFE3	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 list Expert Review Green Phenotypes Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, MIM# 301066 Intellectual disability Epilepsy Coarse facial features Tags
Green Green List (high evidence)	TGIF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Holoprosencephaly 4, MIM# 142946 MONDO:0007734 Tags
Green Green List (high evidence)	TH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Segawa syndrome, recessive MIM#605407 Tags treatable
Green Green List (high evidence)	THOC2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, X-linked 12/35 MIM#300957 Tags
Green Green List (high evidence)	THOC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland 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 Genetic Health Queensland Phenotypes Hypothyroidism congenital nongoitrous 6 (MIM 614450) Tags
Green Green List (high evidence)	THUMPD1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Syndromic disease, MONDO:0002254, THUMPD1-related Tags
Green Green List (high evidence)	TIAM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with language delay and seizures, MIM# 619908 Tags
Green Green List (high evidence)	TIMM50	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes 3-methylglutaconic aciduria, type IX, MIM#617698 Tags
Green Green List (high evidence)	TINF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland 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 Genetic Health Queensland Phenotypes Intellectual disability, MIM 618050 Neurodevelopmental disease Tags
Green Green List (high evidence)	TMCO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1, MIM# 213980 cerebrofaciothoracic dysplasia MONDO:0008952 Tags
Green Green List (high evidence)	TMEM106B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Leukodystrophy, hypomyelinating, 16 (MIM #617964) Tags
Green Green List (high evidence)	TMEM147	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly, MIM# 620075 Tags
Green Green List (high evidence)	TMEM163	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Hypomyelinating leukodystrophy, MONDO:0019046 Tags
Green Green List (high evidence)	TMEM165	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Congenital disorder of glycosylation, type IIk, MIM# 614727 TMEM165-CDG, MONDO:0013870 Tags
Green Green List (high evidence)	TMEM216	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Joubert syndrome 2 MONDO:0011963 Tags
Green Green List (high evidence)	TMEM218	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Joubert syndrome 39, MIM#619562 Tags
Green Green List (high evidence)	TMEM222	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with motor and speech delay and behavioural abnormalities, MIM# 619470 Motor delay Delayed speech and language development Intellectual disability Generalized hypotonia Broad-based gait Abnormality of nervous system morphology Seizures Microcephaly Behavioral abnormality Tags
Green Green List (high evidence)	TMEM237	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Joubert syndrome 14, MIM# 614424 Tags
Green Green List (high evidence)	TMEM240	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Spinocerebellar ataxia 21, MIM# 607454 spinocerebellar ataxia type 21 MONDO:0011833 Tags
Green Green List (high evidence)	TMEM5	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	TMEM63B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes developmental and epileptic encephalopathy, MONDO:0100062, TMEM63B-related Tags
Green Green List (high evidence)	TMEM63C	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 87, autosomal recessive, MIM# 619966 Tags
Green Green List (high evidence)	TMEM67	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Joubert syndrome 6, MIM# 610688 Meckel syndrome 3, MIM# 607361 COACH syndrome 1, MIM# 216360 Tags
Green Green List (high evidence)	TMEM70	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM# 614052 Tags
Green Green List (high evidence)	TMEM94	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Intellectual developmental disorder with cardiac defects and dysmorphic facies, MIM#618316 Tags
Green Green List (high evidence)	TMTC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Lissencephaly 8 (MIM#617255) Tags
Green Green List (high evidence)	TMX2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Microcephaly ID brain malformations Tags
Green Green List (high evidence)	TNPO2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556 Tags
Green Green List (high evidence)	TNR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, MIM# 619653 Spastic para- or tetraparesis Axial muscular hypotonia Intellectual disability Transient opisthotonus Tags
Green Green List (high evidence)	TNRC6B	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Victorian Clinical Genetics Services Phenotypes Global developmental delay with speech and behavioural abnormalities, MIM# 619243 Tags
Green Green List (high evidence)	TOE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Pontocerebellar hypoplasia, type 7, MIM# 614969 Tags
Green Green List (high evidence)	TOGARAM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome 37, MIM# 619185 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 Intellectual disability lissencephaly Tags
Green Green List (high evidence)	TPP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 2, OMIM #204500 Spinocerebellar ataxia, autosomal recessive 7, OMIM #609270 Tags
Green Green List (high evidence)	TPP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220 Tags
Green Green List (high evidence)	TRA2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, TRA2B-related, MONDO# 0700092 Tags
Green Green List (high evidence)	TRAF7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Cardiac, facial, and digital anomalies with developmental delay OMIM #618164 Tags
Green Green List (high evidence)	TRAIP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Seckel syndrome 9, MIM#616777 Tags
Green Green List (high evidence)	TRAK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Epileptic encephalopathy, early infantile, 68, MIM# 618201 Tags
Green Green List (high evidence)	TRAPPC10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, short stature, and speech delay, MIM# 620027 Tags
Green Green List (high evidence)	TRAPPC11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 18 OMIM #615356 Tags
Green Green List (high evidence)	TRAPPC12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669 Tags
Green Green List (high evidence)	TRAPPC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, MIM# 618741 Tags
Green Green List (high evidence)	TRAPPC6B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862 Tags
Green Green List (high evidence)	TRAPPC9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual disability, autosomal recessive 13 (MIM# 613192) Tags SV/CNV
Green Green List (high evidence)	TREX1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Aicardi-Goutieres syndrome MONDO:0018866 Tags
Green Green List (high evidence)	TRIM8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Focal segmental glomerulosclerosis and neurodevelopmental syndrome, MIM# 619428 Intellectual disability Seizures FSGS Tags
Green Green List (high evidence)	TRIO	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal dominant 44, MIM# 617061 Tags
Green Green List (high evidence)	TRIP12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation autosomal dominant 49, Clark-Baraitser Syndrome, MIM#617752 Tags
Green Green List (high evidence)	TRIT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Combined oxidative phosphorylation deficiency 35, MIM#617873 Tags
Green Green List (high evidence)	TRMT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Intellectual developmental disorder, autosomal recessive 68 MIM#618302 Tags
Green Green List (high evidence)	TRMT10A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033 MONDO:0000208 Tags
Green Green List (high evidence)	TRNT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Retinitis pigmentosa and erythrocytic microcytosis, OMIM #616959 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM #616084 Tags
Green Green List (high evidence)	TRPM3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures, MIM# 620224 Tags
Green Green List (high evidence)	TRRAP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Developmental delay with or without dysmorphic facies and autism OMIM #618454 Tags
Green Green List (high evidence)	TSC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Tuberous sclerosis MIM#191100 Tags
Green Green List (high evidence)	TSC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Tuberous sclerosis MIM#613254 Tags
Green Green List (high evidence)	TSEN15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Pontocerebellar hypoplasia, type 2F, 617026 Tags
Green Green List (high evidence)	TSEN2	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	TSEN54	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes pontocerebellar hypoplasia type 2A MONDO:0010190 Tags
Green Green List (high evidence)	TSFM	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Combined oxidative phosphorylation deficiency 3, MIM#610505 Tags
Green Green List (high evidence)	TSHB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Central congenital hypothyroidism Orphanet:226298 Tags
Green Green List (high evidence)	TSPOAP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dystonia 22, MIM# 620453 Tags
Green Green List (high evidence)	TTC19	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	TTC37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes trichohepatoenteric syndrome 1 MONDO:0024541 Tags
Green Green List (high evidence)	TTC5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism , MIM#619244 Central hypotonia Global developmental delay Intellectual disability Abnormality of nervous system morphology Microcephaly Abnormality of the face Behavioral abnormality Abnormality of the genitourinary system Tags
Green Green List (high evidence)	TTC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Bardet-Biedl syndrome 8, MIM# 615985 Tags
Green Green List (high evidence)	TTI1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445 Tags
Green Green List (high evidence)	TTI2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal recessive 39 (MIM#615541) AR Tags
Green Green List (high evidence)	TUBA1A	0 reviews	Unknown	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	TUBB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland 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 Phenotypes Cortical dysplasia, complex, with other brain malformations 5, MIM# 615763 Tags
Green Green List (high evidence)	TUBB2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland 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 Genetic Health Queensland Phenotypes complex cortical dysplasia with other brain malformations 1 MONDO:0013541 Tags
Green Green List (high evidence)	TUBB4A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes hypomyelinating leukodystrophy 6 MONDO:0012905 Tags
Green Green List (high evidence)	TUBG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes complex cortical dysplasia with other brain malformations 4 MONDO:0014171 Tags
Green Green List (high evidence)	TUBGCP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lissencephaly pachygyria subcortical band heterotopia microcephaly intellectual disability Tags
Green Green List (high evidence)	TUBGCP6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM#251270 Tags
Green Green List (high evidence)	TUSC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal recessive 7, MIM# 611093, MONDO:0012615 TUSC3-CDG (Disorders of protein N-glycosylation) Tags SV/CNV
Green Green List (high evidence)	TWIST1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Saethre-Chotzen syndrome MONDO:0007042 Tags
Green Green List (high evidence)	U2AF2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535 Tags
Green Green List (high evidence)	UBA5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Epileptic encephalopathy, early infantile, 44 (MIM#617132) Tags
Green Green List (high evidence)	UBAP2L	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, MIM# 620494 Delayed speech and language development Motor delay Intellectual disability Autistic behavior Seizures Microcephaly Abnormality of head or neck Short stature Abnormality of the skeletal system Tags
Green Green List (high evidence)	UBE2A	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, X-linked syndromic, Nascimento-type (MIM#300860) Tags
Green Green List (high evidence)	UBE3A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Genetic Health Queensland Phenotypes Angelman syndrome MONDO:0007113 Tags
Green Green List (high evidence)	UBE3B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Kaufman oculocerebrofacial syndrome, MIM# 244450 MONDO:0009485 Tags
Green Green List (high evidence)	UBE3C	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities, MIM# 620270 Tags
Green Green List (high evidence)	UBE4A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia and gross motor and seech delay, MIM# 619639 Tags
Green Green List (high evidence)	UBR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Johanson-Blizzard syndrome (MIM#243800) Tags
Green Green List (high evidence)	UBR7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Li-Campeau syndrome, MIM# 619189 Intellectual disability epilepsy hypothyroidism congenital anomalies dysmorphic features Tags
Green Green List (high evidence)	UBTF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672 MONDO:0044701 Tags
Green Green List (high evidence)	UFC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with spasticity and poor growth OMIM #618076 Tags
Green Green List (high evidence)	UFM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 14 OMIM #617899 Tags
Green Green List (high evidence)	UFSP2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 106, MIM# 620028 Abnormal muscle tone Seizures Global developmental delay Delayed speech and language development Intellectual disability Strabismus Tags founder
Green Green List (high evidence)	UGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 84 - MIM #618792 Tags
Green Green List (high evidence)	UGP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy intellectual disability microcephaly Tags
Green Green List (high evidence)	UMPS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Orotic aciduria MIM# 258900 Tags
Green Green List (high evidence)	UNC13A	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Congenital myasthenia dyskinesia autism developmental delay neurodevelopmental disorder MONDO#0700092, UNC13A-related Tags
Green Green List (high evidence)	UNC79	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO:0700092), UNC79-related Tags
Green Green List (high evidence)	UNC80	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801 MONDO:0014777 Tags
Green Green List (high evidence)	UPB1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Beta-ureidopropionase deficiency, OMIM #613161 Tags
Green Green List (high evidence)	UPF3B	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, X-linked, syndromic 14, MIM# 300676 Tags
Green Green List (high evidence)	USP18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Pseudo-TORCH syndrome 2 OMIM #617397 Tags
Green Green List (high evidence)	USP27X	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Intellectual disability, X-linked 105, MIM#300984 Tags
Green Green List (high evidence)	USP7	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Hao-Fountain syndrome, MIM# 616863 MONDO:0014805 Intellectual disability Autism 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 Genetic Health Queensland Phenotypes Mental retardation, X-linked 99, XLR (MIM#300919) and XLD (MIM#300968) Tags
Green Green List (high evidence)	VAMP2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 618760 Cortical visual impairment Seizures Stereotypic behaviour Generalized hypotonia Intellectual disability Tags
Green Green List (high evidence)	VARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy OMIM #617802 Tags
Green Green List (high evidence)	VARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 20 OMIM #615917 Tags
Green Green List (high evidence)	VCP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO: 0700092) Tags
Green Green List (high evidence)	VIPAS39	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green 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 Genetic Health Queensland Phenotypes cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 MONDO:0024542 Tags
Green Green List (high evidence)	VPS11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 12, MIM#616683 Tags founder
Green Green List (high evidence)	VPS13B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Cohen syndrome MONDO:0008999 Tags
Green Green List (high evidence)	VPS16	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes mucopolysaccharidosis-like disorder, VPS16-related MONDO#0100365 Tags
Green Green List (high evidence)	VPS33B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1 OMIM #208085 Tags
Green Green List (high evidence)	VPS41	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia-29 (SCAR29), MIM#619389 Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay Tags
Green Green List (high evidence)	VPS4A	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes CIMDAG syndrome MIM# 619273 Tags
Green Green List (high evidence)	VPS50	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685 Neonatal cholestatic liver disease Failure to thrive Profound global developmental delay Postnatal microcephaly Seizures Abnormality of the corpus callosum Tags
Green Green List (high evidence)	VPS53	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland 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 Genetic Health Queensland Phenotypes pontocerebellar hypoplasia type 1A MONDO:0011866 Tags
Green Green List (high evidence)	WAC	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Desanto-Shinawi syndrome 616708 Tags
Green Green List (high evidence)	WARS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder withmicrocephaly and speech delay, with or without brain abnormalities,MIM# 620317 Tags
Green Green List (high evidence)	WARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM#617710 Tags
Green Green List (high evidence)	WASF1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with absent language and variable seizures , MIM#618707 Tags
Green Green List (high evidence)	WASHC4	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Intellectual developmental disorder, autosomal recessive 43 MIM#615817 Tags
Green Green List (high evidence)	WBP4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Neurodevelopmental disorder, MONDO:0700092, WBP4-related Tags
Green Green List (high evidence)	WDFY3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Victorian Clinical Genetics Services Phenotypes Microcephaly 18, primary, autosomal dominant, MIM#617520 Tags
Green Green List (high evidence)	WDPCP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Bardet-Biedl syndrome 15, MIM# 615992 OFD Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 Tags
Green Green List (high evidence)	WDR11	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder, MONDO:0700092, WDR11-related Tags
Green Green List (high evidence)	WDR26	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Skraban-Deardorff syndrome, MIM#617616 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 OMIM #618652 Tags
Green Green List (high evidence)	WDR4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Galloway-Mowat syndrome 6, OMIM #618347 Microcephaly, growth deficiency, seizures, and brain malformations, OMIM #618346 Tags
Green Green List (high evidence)	WDR44	1 review 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)	WDR45	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 Phenotypes X-linked complex neurodevelopmental disorder MONDO:0100148 neurodegeneration with brain iron accumulation 5 MONDO:0010476 Tags
Green Green List (high evidence)	WDR45B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM# 617977 Tags
Green Green List (high evidence)	WDR5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, WDR5-related Tags
Green Green List (high evidence)	WDR62	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317 MONDO:0011435 Tags
Green Green List (high evidence)	WDR73	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Galloway-Mowat syndrome 1 MONDO:0033005 Tags
Green Green List (high evidence)	WDR81	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 Hydrocephalus, congenital, 3, with brain anomalies, 617967 Tags
Green Green List (high evidence)	WIPI2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with short stature and variable skeletal anomalies 618453 global developmental delay intellectual disability refractory infantile/childhood-onset epilepsy progressive tetraplegia with joint contractures dyskinesia speech and visual impairment autistic features ataxic gait Tags
Green Green List (high evidence)	WNK3	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Prieto syndrome, MIM# 309610 Tags
Green Green List (high evidence)	WNT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Osteogenesis imperfecta, type XV OMIM# 615220 Tags
Green Green List (high evidence)	WNT5A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Robinow syndrome, autosomal dominant 1 OMIM# 180700 Tags
Green Green List (high evidence)	WWOX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes developmental and epileptic encephalopathy, 28 MONDO:0014533 autosomal recessive spinocerebellar ataxia 12 MONDO:0013687 Tags
Green Green List (high evidence)	XPA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Xeroderma pigmentosum, group A OMIM# 278700 Tags
Green Green List (high evidence)	XRCC4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Short stature, microcephaly, and endocrine dysfunction MIM#616541, MONDO:0014686 Tags
Green Green List (high evidence)	XYLT1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Desbuquois dysplasia 2, MIM# 615777 Baratela-Scott syndrome Tags STR SV/CNV
Green Green List (high evidence)	YARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418 Tags
Green Green List (high evidence)	YIF1B	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Kaya-Barakat-Masson syndrome, MIM# 619125 Central hypotonia Failure to thrive Microcephaly Global developmental delay Intellectual disability Seizures Spasticity Abnormality of movement Tags
Green Green List (high evidence)	YWHAE	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092 Tags
Green Green List (high evidence)	YWHAG	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Developmental and epileptic encephalopathy 56, (MIMI#617665) Tags
Green Green List (high evidence)	YY1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Gabriele-de Vries syndrome, OMIM #617557 Tags
Green Green List (high evidence)	ZBTB11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual developmental disorder, autosomal recessive 69 OMIM #618383 Tags
Green Green List (high evidence)	ZBTB18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal dominant 22, MIM# 612337 Intellectual disability microcephaly corpus callosum abnormalities Tags
Green Green List (high evidence)	ZBTB20	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Primrose syndrome, MIM# 259050 Tags
Green Green List (high evidence)	ZBTB24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 2 OMIM # 614069 Tags
Green Green List (high evidence)	ZBTB47	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), ZBTB47-related Tags
Green Green List (high evidence)	ZBTB7A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin (MIM#619769) Tags
Green Green List (high evidence)	ZC4H2	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 Phenotypes Wieacker-Wolff syndrome, MIM# 314580 Tags
Green Green List (high evidence)	ZDHHC9	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Syndromic X-linked intellectual disability Raymond type MONDO:0010427 Tags
Green Green List (high evidence)	ZEB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Mowat-Wilson syndrome, MIM# 235730 MONDO:0009341 Tags SV/CNV
Green Green List (high evidence)	ZFHX3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Research Phenotypes Neurodevelopmental disorder, MONDO:0700092, ZFHX3-related Tags
Green Green List (high evidence)	ZFHX4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder, ZFHX4-related (MONDO:0700092) Tags SV/CNV
Green Green List (high evidence)	ZFX	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 Intellectual developmental disorder, X-linked syndromic 37, MIM# 301118 Tags
Green Green List (high evidence)	ZFYVE26	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Spastic paraplegia 15, autosomal recessive, MIM# 270700 hereditary spastic paraplegia 15, MONDO:0010044 Tags
Green Green List (high evidence)	ZIC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Structural brain anomalies with impaired intellectual development and craniosynostosis OMIM #618736  Tags
Green Green List (high evidence)	ZIC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Holoprosencephaly 5 MONDO:0012322 Tags
Green Green List (high evidence)	ZMIZ1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies OMIM #618659 Tags
Green Green List (high evidence)	ZMYM2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, MIM# 619522 Tags
Green Green List (high evidence)	ZMYM3	3 reviews 2 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual developmental disorder, X-linked 112, MIM# 301111 Tags
Green Green List (high evidence)	ZMYND11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal dominant 30, MIM# 616083 Tags
Green Green List (high evidence)	ZMYND8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature 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)	ZNF142	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with impaired speech and hyperkinetic movements, MIM#618425 Tags
Green Green List (high evidence)	ZNF148	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies OMIM #617260 Tags
Green Green List (high evidence)	ZNF292	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal dominant 64 MIM#619188 Tags
Green Green List (high evidence)	ZNF335	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Microcephaly 10, primary, autosomal recessive OMIM #615095 Tags
Green Green List (high evidence)	ZNF462	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Weiss-Kruszka syndrome, OMIM# 618619 Tags
Green Green List (high evidence)	ZNF526	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dentici-Novelli neurodevelopmental syndrome, MIM# 619877 Tags
Green Green List (high evidence)	ZNF699	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes DEGCAGS syndrome, MIM# 619488 Tags
Green Green List (high evidence)	ZNF711	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, X-linked 97 OMIM #300803 Tags
Green Green List (high evidence)	ZNHIT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes PEHO syndrome, MIM# 260565 Tags founder
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)	ZSCAN10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Syndromic disease MONDO:0002254 Tags
Green Green List (high evidence)	ZSWIM6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, MIM#617865 Tags
Amber Amber List (moderate evidence)	AASS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Hyperlysinemia, MIM# 238700 Tags disputed
Amber Amber List (moderate evidence)	ACACA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Acetyl-CoA carboxylase deficiency, MIM# 613933 Tags
Amber Amber List (moderate evidence)	ACADS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470 Tags
Amber Amber List (moderate evidence)	ACADSB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes 2-methylbutyrylglycinuria, MIM# 610006 Tags
Amber Amber List (moderate evidence)	ACAT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Alpha-methylacetoacetic aciduria, MIM# 203750 Tags
Amber Amber List (moderate evidence)	ADCY5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651 Tags
Amber Amber List (moderate evidence)	AGPAT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), AGPAT3-related Tags
Amber Amber List (moderate evidence)	AKAP6	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder, MONDO:0700092, AKAP6-related Tags
Amber Amber List (moderate evidence)	ALDOA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Glycogen storage disease XII, MIM#611881 Tags
Amber Amber List (moderate evidence)	ALX1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Frontonasal dysplasia 3, MIM#613456 Tags
Amber Amber List (moderate evidence)	ALX3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Frontonasal dysplasia 1, MIM#136760 Tags
Amber Amber List (moderate evidence)	ALX4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Frontonasal dysplasia 2, MIM# 613451 Tags
Amber Amber List (moderate evidence)	ANAPC7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Ferguson-Bonni neurodevelopmental syndrome, MIM# 619699 Tags founder SV/CNV
Amber Amber List (moderate evidence)	AP2S1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Developmental disorder Tags
Amber Amber List (moderate evidence)	AQP4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448 Tags
Amber Amber List (moderate evidence)	ARHGAP31	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Phenotypes Adams-Oliver syndrome 1, MIM#100300 Tags
Amber Amber List (moderate evidence)	ARNT2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Webb-Dattani syndrome 615926 Tags
Amber Amber List (moderate evidence)	ASTN2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, ASTN2-related Tags
Amber Amber List (moderate evidence)	ATM	1 review	Unknown	Sources Expert Review Amber Genetic Health Queensland Phenotypes Ataxia-telangiectasia, MIM#208900 Tags
Amber Amber List (moderate evidence)	ATP11A	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Leukodystrophy, hypomyelinating, 24 , MIM# 619851 Tags
Amber Amber List (moderate evidence)	ATP13A2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Kufor-Rakeb syndrome, MIM# 606693 Tags
Amber Amber List (moderate evidence)	ATP5E	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053 Tags new gene name
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)	B3GALT6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM#615349 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM#271640 Tags
Amber Amber List (moderate evidence)	B9D1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Joubert syndrome 27, MIM#617120 Meckel syndrome 9, MIM#614209 Tags
Amber Amber List (moderate evidence)	BAZ2B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Intellectual disability autism Tags
Amber Amber List (moderate evidence)	BBIP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Bardet-Biedl syndrome 18, MIM#615995 Tags
Amber Amber List (moderate evidence)	BCORL1	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 Amber Literature Phenotypes Shukla-Vernon syndrome, MIM#301029 Tags
Amber Amber List (moderate evidence)	BRIP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Fanconi anaemia, complementation group J, MIM# 609054 Tags
Amber Amber List (moderate evidence)	BUB1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Primary microcephaly-30 (MCPH30), MIM#620183 Tags
Amber Amber List (moderate evidence)	C8orf37	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Bardet-Biedl syndrome 21, MIM#617406 Tags
Amber Amber List (moderate evidence)	CACNB4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes intellectual disability psychomotor retardation blindness epilepsy movement disorder cerebellar atrophy Tags
Amber Amber List (moderate evidence)	CAMK2G	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Phenotypes Mental retardation, autosomal dominant 59, MIM# 618522 Tags
Amber Amber List (moderate evidence)	CAPZA2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Intellectual disability Tags
Amber Amber List (moderate evidence)	CCDC174	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hypotonia, infantile, with psychomotor retardation - IHPMR, 616816 Tags
Amber Amber List (moderate evidence)	CCDC78	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Phenotypes Centronuclear myopathy 4, MIM#614807 Tags
Amber Amber List (moderate evidence)	CCDC84	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mosaic variegated aneuploidy syndrome 4 (MIM#620153) Tags
Amber Amber List (moderate evidence)	CD96	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Phenotypes C syndrome, MIM#211750 Tags
Amber Amber List (moderate evidence)	CDK6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Microcephaly 12, primary, autosomal recessive, MIM#616080 Tags
Amber Amber List (moderate evidence)	CDKN1C	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Phenotypes IMAGE syndrome, MIM# 614732 Tags
Amber Amber List (moderate evidence)	CEP63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Seckel syndrome 6, MIM#614728 Tags
Amber Amber List (moderate evidence)	CEP89	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Mitochondrial complex IV deficiency Tags
Amber Amber List (moderate evidence)	CHMP3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hereditary spastic paraplegia (MONDO:0019064), CHMP3-related Tags
Amber Amber List (moderate evidence)	CHRM1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental delay intellectual disability autism Tags
Amber Amber List (moderate evidence)	CHST14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1, MIM#601776 Tags
Amber Amber List (moderate evidence)	CLCN2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Leukoencephalopathy with ataxia, MIM#615651 Tags
Amber Amber List (moderate evidence)	CLCN7	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541 Tags
Amber Amber List (moderate evidence)	CNKSR1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Neurodevelopmental disorder, MONDO:0700092, CNKSR1-related Tags
Amber Amber List (moderate evidence)	COG3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Congenital disorder of glycosylation, type IIbb, MIM# 620546 Tags
Amber Amber List (moderate evidence)	COPB1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Baralle-Macken syndrome, MIM# 619255 Severe intellectual disability variable microcephaly cataracts Tags
Amber Amber List (moderate evidence)	COQ2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Coenzyme Q10 deficiency, primary, 1, MIM#607426 Tags
Amber Amber List (moderate evidence)	COQ9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Coenzyme Q10 deficiency, primary, 5, MIM#614654 Tags
Amber Amber List (moderate evidence)	COX14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Mitochondrial complex IV deficiency, nuclear type 10, MIM#619053 Tags
Amber Amber List (moderate evidence)	COX20	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Mitochondrial complex IV deficiency, MIM#220110 Tags
Amber Amber List (moderate evidence)	COX7B	1 review	Unknown	Sources Expert Review Amber Genetic Health Queensland Phenotypes Linear skin defects with multiple congenital anomalies 2, MIM#300887 Tags
Amber Amber List (moderate evidence)	CRBN	1 review	Unknown	Sources Expert Review Amber Genetic Health Queensland Phenotypes Mental retardation, autosomal recessive 2, MIM# 607417 Tags
Amber Amber List (moderate evidence)	CSF1R	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476 BANDDOS Tags
Amber Amber List (moderate evidence)	CSTF2	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder, X-linked 113, MIM# 301116 Tags
Amber Amber List (moderate evidence)	CTC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199 Tags
Amber Amber List (moderate evidence)	CTNND1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Blepharocheilodontic syndrome 2, MIM# 617681 Tags
Amber Amber List (moderate evidence)	CTNND2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Phenotypes Neurodevelopmental disorder, MONDO:0700092, CTNND2-related Tags
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)	DDOST	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Congenital disorder of glycosylation, type Ir, MIM# 614507 Tags
Amber Amber List (moderate evidence)	DHX32	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, DHX32-related Tags
Amber Amber List (moderate evidence)	DLAT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Pyruvate dehydrogenase E2 deficiency, MIM#245348 Tags
Amber Amber List (moderate evidence)	DLG2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Intellectual disability (MONDO#0001071), DLG2-related Tags SV/CNV
Amber Amber List (moderate evidence)	DPH2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Developmental delay with short stature, dysmorphic facial features, and sparse hair 2, MIM# 620062 Diphthamide-deficiency syndrome Tags
Amber Amber List (moderate evidence)	DPYD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Dihydropyrimidine dehydrogenase deficiency (MIM#274270) Tags
Amber Amber List (moderate evidence)	DPYSL2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes intellectual disability, MONDO:0001071, DPYSL2-related Tags
Amber Amber List (moderate evidence)	DROSHA	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), DROSHA-related Tags
Amber Amber List (moderate evidence)	DSCAM	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Phenotypes Autism ID Tags
Amber Amber List (moderate evidence)	EEF1D	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, EEF1D-related Tags
Amber Amber List (moderate evidence)	EIF2A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability, epilepsy Tags
Amber Amber List (moderate evidence)	EMG1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Bowen-Conradi syndrome, MIM#211180 Tags
Amber Amber List (moderate evidence)	EMX2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Phenotypes Schizencephaly, MIM# 269160 Tags disputed
Amber Amber List (moderate evidence)	EPHA7	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder MONDO:0700092,EPHA7-related Tags SV/CNV
Amber Amber List (moderate evidence)	ERBB4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Intellectual disability Tags SV/CNV
Amber Amber List (moderate evidence)	ERGIC3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability Tags
Amber Amber List (moderate evidence)	EXOC2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia, MIM# 619306 Global developmental delay Intellectual disability Abnormality of the face Abnormality of brain morphology Tags
Amber Amber List (moderate evidence)	EXOSC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, MIM# 617763 Tags
Amber Amber List (moderate evidence)	FANCB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Fanconi anemia, complementation group B, MIM# 300514 Tags
Amber Amber List (moderate evidence)	FANCD2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Fanconi anemia, complementation group D2, MIM# 227646 Tags
Amber Amber List (moderate evidence)	FANCG	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Fanconi anemia, complementation group G, MIM# 614082 Tags
Amber Amber List (moderate evidence)	FGFR2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Phenotypes Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, MIM# 207410 Apert syndrome, MIM# 101200 Tags
Amber Amber List (moderate evidence)	FIBP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Thauvin-Robinet-Faivre syndrome, MIM#617107 Tags
Amber Amber List (moderate evidence)	FICD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, FICD-related (MONDO#0700092) Tags
Amber Amber List (moderate evidence)	FOXR1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Postnatal microcephaly, progressive brain atrophy and global developmental delay Tags
Amber Amber List (moderate evidence)	FRA12A STR	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Phenotypes Mental retardation, FRA12A type MIM#136630 Tags 5'UTR
Amber Amber List (moderate evidence)	FRMD4A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Intellectual disability microcephaly Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, MIM# 616819 Tags
Amber Amber List (moderate evidence)	FRY	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability no OMIM number yet Tags
Amber Amber List (moderate evidence)	FTCD	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Glutamate formiminotransferase deficiency MIM#229100 Tags
Amber Amber List (moderate evidence)	GBA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Gaucher disease, type II 230900 Tags
Amber Amber List (moderate evidence)	GMNN	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Meier-Gorlin syndrome 6, MIM# 616835 Tags
Amber Amber List (moderate evidence)	GNAI2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Syndromic intellectual disability Tags
Amber Amber List (moderate evidence)	GNAQ	1 review	Unknown	Sources Expert Review Amber Genetic Health Queensland Phenotypes Sturge-Weber syndrome, somatic, mosaic, MIM#185300 Tags somatic
Amber Amber List (moderate evidence)	GORAB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Geroderma osteodysplasticum, MIM#231070 Tags
Amber Amber List (moderate evidence)	GPHN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Molybdenum cofactor deficiency C, MIM#615501 Tags SV/CNV
Amber Amber List (moderate evidence)	GSX2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Diencephalic-mesencephalic junction dysplasia syndrome 2 618646 Intellectual disability Dystonia Spastic tetra paresis Tags
Amber Amber List (moderate evidence)	GTF2E2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Trichothiodystrophy 6, nonphotosensitive, MIM# 616943 MONDO:0014841 Tags
Amber Amber List (moderate evidence)	HARS	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes multisystem ataxic syndrome mild-severe intellectual disability Tags
Amber Amber List (moderate evidence)	HAX1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738 Tags
Amber Amber List (moderate evidence)	HCN2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes Neurodevelopmental disorder (MONDO#0700092), HCN2-related Tags
Amber Amber List (moderate evidence)	HEATR3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability Diamond-Blackfan anaemia 21, MIM# 620072 Tags
Amber Amber List (moderate evidence)	HEATR5B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes pontocerebellar hypoplasia intellectual disability seizures Tags
Amber Amber List (moderate evidence)	HIST1H4D	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, HIST1H4D-related MONDO:0700092 Tags new gene name
Amber Amber List (moderate evidence)	HIST1H4F	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, HIST1H4F-related Tags new gene name
Amber Amber List (moderate evidence)	HIST1H4J	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Tessadori-van Haaften neurodevelopmental syndrome 2 , MIM# 619759 Tags new gene name
Amber Amber List (moderate evidence)	HSPA9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Even-plus syndrome, OMIM 616854 skeletal anomalies congenital cardiac and renal anom Tags
Amber Amber List (moderate evidence)	HTT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Lopes-Maciel-Rodan syndrome, 617435 LOMARS Intellectual disability Tags
Amber Amber List (moderate evidence)	HYLS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Hydrolethalus syndrome, MIM#236680 Tags founder
Amber Amber List (moderate evidence)	ICE1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability, cerebral atrophy Tags
Amber Amber List (moderate evidence)	IMPA1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Mental retardation, autosomal recessive 59, MIM#617323 Tags
Amber Amber List (moderate evidence)	INPP4A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability Tags
Amber Amber List (moderate evidence)	IQSEC3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability Fetal akinesia Tags
Amber Amber List (moderate evidence)	ITCH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Autoimmune disease, multisystem, with facial dysmorphism, MIM#613385 Tags
Amber Amber List (moderate evidence)	ITGA7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204 Tags
Amber Amber List (moderate evidence)	JAKMIP1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), JAKMIP1-related Tags
Amber Amber List (moderate evidence)	JPH3	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, JPH3-related Intellectual disability dystonia Tags
Amber Amber List (moderate evidence)	KCNJ1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Bartter syndrome, type 2, MIM#241200 Tags
Amber Amber List (moderate evidence)	KCNK3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Phenotypes Neurodevelopmental disorder, MONDO:0700092, KCNK3-related Tags
Amber Amber List (moderate evidence)	KIAA0391	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Combined oxidative phosphorylation deficiency 54, MIM# 619737 Tags new gene name
Amber Amber List (moderate evidence)	KLHL15	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Mental retardation, X-linked 103, MIM#300982 Tags
Amber Amber List (moderate evidence)	LAMC3	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes complex neurodevelopmental disorder MONDO:0100038 Cortical malformations, occipital, MIM# 614115 Tags
Amber Amber List (moderate evidence)	LINGO1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Mental retardation, autosomal recessive 64, MIM#618103 Tags
Amber Amber List (moderate evidence)	LIPT2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668 Tags
Amber Amber List (moderate evidence)	LMAN2L	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mental retardation, autosomal recessive, 52 OMIM #616887 Intellectual developmental disorder, autosomal dominant 69 , MIM# 617863 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 (CPPRDD) syndrome, MIM# 619074 Tags
Amber Amber List (moderate evidence)	LYST	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Chediak-Higashi syndrome, MIM#214500 Tags
Amber Amber List (moderate evidence)	MAL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Leukodystrophy MONDO:0019046, MAL-related Tags
Amber Amber List (moderate evidence)	MANF	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Diabetes, deafness, developmental delay, and short stature syndrome, MIM# 620651 Tags
Amber Amber List (moderate evidence)	MCCC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200 Organic acidurias Tags
Amber Amber List (moderate evidence)	MCCC2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency (MIM#210210) Tags
Amber Amber List (moderate evidence)	MKL2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder (MONDO:0700092), MKL2-related Tags
Amber Amber List (moderate evidence)	MMGT1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, MMGT1-related Tags
Amber Amber List (moderate evidence)	MOCS3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Molybdenum cofactor deficiency MONDO:0020480 Tags
Amber Amber List (moderate evidence)	MRPL3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Combined oxidative phosphorylation deficiency 9 OMIM #614582 Tags
Amber Amber List (moderate evidence)	MSL2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, MSL2-related Tags
Amber Amber List (moderate evidence)	NBN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Nijmegen breakage syndrome, MIM# 251260 Tags
Amber Amber List (moderate evidence)	NCAPG2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Khan-Khan-Katsanis syndrome, MIM# 618460 Tags
Amber Amber List (moderate evidence)	NDUFA10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Mitochondrial complex I deficiency, nuclear type 22, MIM#618243 Tags
Amber Amber List (moderate evidence)	NDUFA11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Mitochondrial complex I deficiency, nuclear type 14, MIM#618236 Tags
Amber Amber List (moderate evidence)	NDUFA8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial complex I deficiency, nuclear type 37- 619272 Epilepsy Microcephaly Developmental Delay Tags
Amber Amber List (moderate evidence)	NDUFA9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Mitochondrial complex I deficiency, nuclear type 26, MIM#618247 Tags
Amber Amber List (moderate evidence)	NDUFAF2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Mitochondrial complex I deficiency, nuclear type 10, MIM#618233 Tags
Amber Amber List (moderate evidence)	NDUFAF3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Mitochondrial complex I deficiency, nuclear type 18, MIM#618240 Tags
Amber Amber List (moderate evidence)	NDUFAF4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Mitochondrial complex I deficiency, nuclear type 15, MIM#618237 Tags
Amber Amber List (moderate evidence)	NDUFAF5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Mitochondrial complex I deficiency, nuclear type 16, MIM# 618238 Tags
Amber Amber List (moderate evidence)	NDUFAF6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Mitochondrial complex I deficiency, nuclear type 17, MIM#618239 Tags
Amber Amber List (moderate evidence)	NDUFB3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Mitochondrial complex I deficiency, nuclear type 25, MIM#618246 Tags
Amber Amber List (moderate evidence)	NDUFB9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Mitochondrial complex I deficiency, nuclear type 24, MIM#618245 Tags
Amber Amber List (moderate evidence)	NDUFS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Mitochondrial complex I deficiency, nuclear type 6, MIM#618228 Tags
Amber Amber List (moderate evidence)	NDUFS3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Mitochondrial complex I deficiency, nuclear type 8, MIM#618230 Tags
Amber Amber List (moderate evidence)	NDUFS6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Mitochondrial complex I deficiency, nuclear type 9, MIM#618232 Tags
Amber Amber List (moderate evidence)	NDUFV2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Mitochondrial complex I deficiency, nuclear type 7, MIM#618229 Tags
Amber Amber List (moderate evidence)	NECAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Epileptic encephalopathy, early infantile, 21, MIM#615833 Tags
Amber Amber List (moderate evidence)	NHP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Dyskeratosis congenita, autosomal recessive 2, MIM# 613987 Høyeraal-Hreidarsson syndrome Tags
Amber Amber List (moderate evidence)	NMNAT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), MIM#619260 Tags founder SV/CNV
Amber Amber List (moderate evidence)	NSF	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Developmental and epileptic encephalopathy 96, MIM# 619340 Seizures EEG with burst suppression Global developmental delay Intellectual disability Tags
Amber Amber List (moderate evidence)	NUP85	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability Tags
Amber Amber List (moderate evidence)	OTUD7A	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with hypotonia and seizures, MIM# 620790 Tags
Amber Amber List (moderate evidence)	PAX1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Radboud University Medical Center, Nijmegen Phenotypes Otofaciocervical syndrome 2, 615560 Tags
Amber Amber List (moderate evidence)	PDCD6IP	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Microcephaly 29, primary, autosomal recessive, MIM# 620047 Tags
Amber Amber List (moderate evidence)	PDE2A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Paroxysmal dyskinesia Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150 Tags
Amber Amber List (moderate evidence)	PHC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Microcephaly 11, primary, autosomal recessive, MIM#615414 Tags
Amber Amber List (moderate evidence)	PIEZO2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Phenotypes Marden-Walker syndrome, MIM# 248700 Arthrogryposis, distal, type 3, MIM# 114300 Tags
Amber Amber List (moderate evidence)	PIGY	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland 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 Intellectual disability trigonocephaly Tags founder
Amber Amber List (moderate evidence)	PLCH1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Holoprosencephaly 14, MIM# 619895 Tags
Amber Amber List (moderate evidence)	PLEKHG2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Leukodystrophy and acquired microcephaly with or without dystonia, 616763 Tags
Amber Amber List (moderate evidence)	PLOD3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Lysyl hydroxylase 3 deficiency, MIM#612394 Tags
Amber Amber List (moderate evidence)	PLXNA2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Other Phenotypes Intellectual disability Abnormality of the face Failure to thrive Abnormal heart morphology Tags
Amber Amber List (moderate evidence)	PPM1K	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Maple syrup urine disease, mild variant, MIM#615135 Tags
Amber Amber List (moderate evidence)	PPP1R15B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Microcephaly, short stature, and impaired glucose metabolism 2, MIM# 616817 Tags
Amber Amber List (moderate evidence)	PRICKLE2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, PRICKLE2-related Tags
Amber Amber List (moderate evidence)	PRKACB	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Cardioacrofacial dysplasia 2, MIM# 619143 Postaxial hand polydactyly Postaxial foot polydactyly Common atrium Atrioventricular canal defect Narrow chest Abnormality of the teeth Intellectual disability Tags
Amber Amber List (moderate evidence)	PRKD1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Phenotypes Congenital heart defects and ectodermal dysplasia, 617364 Tags
Amber Amber List (moderate evidence)	PRRT2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland 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
Amber Amber List (moderate evidence)	PRSS12	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Intellectual disability, PRSS12 related MIM#249500 Tags
Amber Amber List (moderate evidence)	PSAT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Phosphoserine aminotransferase deficiency, MIM# 610992 Neu-Laxova syndrome 2, MIM# 616038 Tags
Amber Amber List (moderate evidence)	PSMB1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability microcephaly Tags
Amber Amber List (moderate evidence)	PTPA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability Parkinsonism Tags
Amber Amber List (moderate evidence)	RAB14	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Developmental disorders Tags
Amber Amber List (moderate evidence)	RAB1A	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder MONDO:0700092, RAB1A-related Tags
Amber Amber List (moderate evidence)	RBM28	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Alopecia, neurologic defects, and endocrinopathy syndrome, MIM#612079 Tags
Amber Amber List (moderate evidence)	RBMX	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Amber Phenotypes Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238 Gustavson syndrome, MIM# 309555 Tags
Amber Amber List (moderate evidence)	RIC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cleft lip cataract tooth abnormality intellectual disability facial dysmorphism ADHD Tags
Amber Amber List (moderate evidence)	RMRP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Anauxetic dysplasia 1, MIM#607095 Tags
Amber Amber List (moderate evidence)	RNF2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Lou-Schoch-Yamamoto syndrome , MIM#619460 epilepsy intellectual disability intrauterine growth retardation Tags
Amber Amber List (moderate evidence)	RNPC3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Growth hormone deficiency Intellectual disability Tags
Amber Amber List (moderate evidence)	RPS23	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Phenotypes Brachycephaly, trichomegaly, and developmental delay, MIM# 617412 Tags
Amber Amber List (moderate evidence)	RRAS2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Noonan syndrome 12 MIM#618624 Tags
Amber Amber List (moderate evidence)	RREB1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Rasopathy, MONDO:0021060, RREB1-related Tags
Amber Amber List (moderate evidence)	RSPRY1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585 Tags
Amber Amber List (moderate evidence)	RUSC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Mental retardation, autosomal recessive 61, MIM# 617773 Tags
Amber Amber List (moderate evidence)	SACS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550 Tags
Amber Amber List (moderate evidence)	SEC31A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, OMIM #618651 Tags
Amber Amber List (moderate evidence)	SEMA3E	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Phenotypes CHARGE syndrome, MIM#214800 Tags
Amber Amber List (moderate evidence)	SEMA5A	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes no OMIM number yet Tags
Amber Amber List (moderate evidence)	SGSM3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder (MONDO:0700092), SGSM3-related Tags founder
Amber Amber List (moderate evidence)	SLC1A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Dicarboxylic aminoaciduria, MIM#222730 Tags
Amber Amber List (moderate evidence)	SLC2A2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Fanconi-Bickel syndrome, MIM# 227810 Tags
Amber Amber List (moderate evidence)	SLC35A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Congenital disorder of glycosylation, type IIf, MIM# 603585 Tags
Amber Amber List (moderate evidence)	SLC35A3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Arthrogryposis, mental retardation, and seizures OMIM #615553 Skeletal dysplasia Tags
Amber Amber List (moderate evidence)	SLC35B2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Leukodystrophy, hypomyelinating, 26, with chondrodysplasia, MIM# 620269 Tags
Amber Amber List (moderate evidence)	SLC45A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Intellectual developmental disorder with neuropsychiatric features, MIM# 617532 Tags
Amber Amber List (moderate evidence)	SLC5A5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Thyroid dyshormonogenesis 1, MIM# 274400 Tags
Amber Amber List (moderate evidence)	SLC6A17	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Mental retardation, autosomal recessive 48, MIM# 616269 Tags
Amber Amber List (moderate evidence)	SLC9A7	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Amber Phenotypes Intellectual developmental disorder, X-linked 108 OMIM #301024 Tags
Amber Amber List (moderate evidence)	SMARCD2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Specific granule deficiency 2, 617475 (includes global developmental delay in some patients) Tags
Amber Amber List (moderate evidence)	SNIP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Psychomotor retardation, epilepsy, and craniofacial dysmorphism, MIM# 614501 Tags
Amber Amber List (moderate evidence)	SNORD118	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Leukoencephalopathy, brain calcifications, and cysts, MIM#614561 Tags
Amber Amber List (moderate evidence)	SNRPN	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert list Expert Review Amber Phenotypes Prader-Willi syndrome OMIM #176270 Tags SV/CNV
Amber Amber List (moderate evidence)	SOX3	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Genetic Health Queensland Phenotypes Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123 Panhypopituitarism, X-linked, MIM#312000 Tags SV/CNV
Amber Amber List (moderate evidence)	SREBF2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurocutaneous syndrome, MONDO:0042983, SREBF2-related Tags
Amber Amber List (moderate evidence)	STN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes cerebral calcification premature ageing bone marrow failure retinal telangiactasia hepatic fibrosis Tags
Amber Amber List (moderate evidence)	SV2A	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, SV2A-related Developmental and epileptic encephalopathy 113, MIM# 620772 Tags
Amber Amber List (moderate evidence)	TACO1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Mitochondrial complex IV deficiency OMIM #220110 Tags
Amber Amber List (moderate evidence)	TAF13	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Mental retardation, autosomal recessive 60, MIM# 617432 Tags
Amber Amber List (moderate evidence)	TAF1C	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), TAF1C-related Tags
Amber Amber List (moderate evidence)	TARS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Trichothiodystrophy 7, nonphotosensitive OMIM #618546 Tags
Amber Amber List (moderate evidence)	TBC1D7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Macrocephaly/megalencephaly syndrome, autosomal recessive, MIM# 248000 Tags
Amber Amber List (moderate evidence)	TGFB1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Inflammatory bowel disease, immunodeficiency, and encephalopathy, MIM# 618213 Tags
Amber Amber List (moderate evidence)	THG1L	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spinocerebellar ataxia, autosomal recessive 28 - 618800 Epilepsy Intellectual Disability Tags
Amber Amber List (moderate evidence)	THRB	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Thyroid hormone resistance, autosomal recessive, MIM# 274300 Thyroid hormone resistance, autosomal dominant, MIM# 188570 Tags
Amber Amber List (moderate evidence)	TKFC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Triokinase and FMN cyclase deficiency syndrome, MIM#618805 Developmental delay cataracts liver dysfunction Tags
Amber Amber List (moderate evidence)	TKT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Short stature, developmental delay, and congenital heart defects OMIM #617044 Tags
Amber Amber List (moderate evidence)	TMEM231	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Joubert syndrome 20, OMIM #614970 Meckel syndrome 11, OMIM #615397 Tags
Amber Amber List (moderate evidence)	TNIK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Mental retardation, autosomal recessive 54, MIM# 617028 Tags
Amber Amber List (moderate evidence)	TOP2B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Intellectual disability Tags
Amber Amber List (moderate evidence)	TRAPPC2L	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331 Tags founder
Amber Amber List (moderate evidence)	TRIP13	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Mosaic variegated aneuploidy syndrome 3, MIM# 617598 Tags founder
Amber Amber List (moderate evidence)	TRPC5	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, TRPC5-related Tags
Amber Amber List (moderate evidence)	TSPAN7	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Genetic Health Queensland Phenotypes Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266 Tags
Amber Amber List (moderate evidence)	TUBGCP4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 Tags
Amber Amber List (moderate evidence)	TUFM	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Combined oxidative phosphorylation deficiency 4 OMIM #610678 Tags
Amber Amber List (moderate evidence)	UPF1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Developmental disorders Tags
Amber Amber List (moderate evidence)	UQCC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Mitochondrial complex III deficiency, nuclear type 7 OMIM #615824 Tags
Amber Amber List (moderate evidence)	USP14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Syndromic disease MONDO:0002254, USP14-related Tags
Amber Amber List (moderate evidence)	VPS37A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Spastic paraplegia 53, autosomal recessive OMIM #614898 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)	WFS1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Wolfram syndrome 1, MIM# 222300 Wolfram-like syndrome, autosomal dominant, MIM# 614296 Tags
Amber Amber List (moderate evidence)	YAP1	1 review	Unknown	Sources Expert Review Amber Genetic Health Queensland Tags
Amber Amber List (moderate evidence)	YKT6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Syndromic disease, MONDO:0002254, YKT6-related Tags
Amber Amber List (moderate evidence)	ZBTB16	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Skeletal defects, genital hypoplasia, and mental retardation, OMIM #612447 Tags
Amber Amber List (moderate evidence)	ZC3H14	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Mental retardation, autosomal recessive 56 OMIM# 617125 Tags
Amber Amber List (moderate evidence)	ZNF407	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes SIMHA syndrome, MIM# 619557 Global developmental delay Intellectual disability Tags
Amber Amber List (moderate evidence)	ZNF668	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, MIM# 620194 Tags
Red Red List (low evidence)	ABCC6	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	ABCG5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Sitosterolemia 2, MIM#618666 Tags
Red Red List (low evidence)	ACOX2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Bile acid synthesis defect, congenital, 6 - 617308 Tags
Red Red List (low evidence)	ACTA1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Myopathy, actin, congenital, with excess of thin myofilaments, MIM#161800 Nemaline myopathy 3, MIM#161800 Myopathy, actin, congenital, with cores, MIM#161800 Tags
Red Red List (low evidence)	ADA2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, MIM#615688 Tags
Red Red List (low evidence)	ADAMTSL2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Geleophysic dysplasia 1, MIM#231050 Tags
Red Red List (low evidence)	ADGRB3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Intellectual disability Tags
Red Red List (low evidence)	ADGRG6	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Lethal congenital contracture syndrome 9 OMIM #616503 Tags
Red Red List (low evidence)	ADRA2B	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Cortical myoclonus and epilepsy Intellectual disability Tags
Red Red List (low evidence)	AFG3L2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Spastic ataxia 5, autosomal recessive, MIM#614487 Tags
Red Red List (low evidence)	AGGF1	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	AGK	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Sengers syndrome, MIM#212350 Tags
Red Red List (low evidence)	AGL	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Glycogen storage disease IIIa, MIM# 232400 Tags
Red Red List (low evidence)	AGO3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Intellectual disability Tags
Red Red List (low evidence)	AGPS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Rhizomelic chondrodysplasia punctata, type 3, MIM#600121 Tags
Red Red List (low evidence)	AGT	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Renal tubular dysgenesis, MIM#267430 Tags
Red Red List (low evidence)	AGTR2	2 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Phenotypes X-linked complex neurodevelopmental disorder MONDO:0100148 Tags disputed
Red Red List (low evidence)	AHSG	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes ?Alopecia-intellectual disability syndrome 1 MIM#203650 infantile cortical hyperostosis Tags
Red Red List (low evidence)	AKR1C2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes 46XY sex reversal 8, MIM#614279 Tags
Red Red List (low evidence)	ALDOB	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Fructose intolerance, hereditary, MIM#229600 Tags
Red Red List (low evidence)	ALG2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228 Congenital disorder of glycosylation, type Ii, MIM# 607906 Tags
Red Red List (low evidence)	ALS2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Spastic paralysis, infantile onset ascending, MIM#607225 Tags
Red Red List (low evidence)	ANKH	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Craniometaphyseal dysplasia, MIM#123000 Tags
Red Red List (low evidence)	APTX	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, MIM#208920 Tags
Red Red List (low evidence)	AR	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Phenotypes Spinal and bulbar muscular atrophy of Kennedy, MIM# 313200 Tags
Red Red List (low evidence)	ARHGEF6	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Phenotypes MENTAL RETARDATION X-LINKED TYPE 46 Tags
Red Red List (low evidence)	ASMT	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	ATL1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Neuropathy, hereditary sensory, type ID, MIM# 613708 Spastic paraplegia 3A, autosomal dominant, MIM# 182600 Tags
Red Red List (low evidence)	ATP10A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	ATP2A2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Darier disease, MIM#124200 Tags
Red Red List (low evidence)	ATP2B3	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Phenotypes Spinocerebellar ataxia, X-linked 1, MIM#302500 Tags
Red Red List (low evidence)	ATP2C2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes language impairment, HP:0002463 Tags
Red Red List (low evidence)	ATXN10	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Spinocerebellar ataxia 10, MIM#603516 Tags
Red Red List (low evidence)	AVP	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Diabetes insipidus, neurohypophyseal, MIM#125700 Tags
Red Red List (low evidence)	AVPR1A	2 reviews 2 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags disputed
Red Red List (low evidence)	AVPR2	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Phenotypes Diabetes insipidus, nephrogenic, MIM#304800 Tags
Red Red List (low evidence)	B3GAT3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM#245600 Tags
Red Red List (low evidence)	BANF1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, BANF1-related Tags
Red Red List (low evidence)	BDNF	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Central hypoventilation syndrome, congenital, MIM#209880 Tags
Red Red List (low evidence)	BICD2	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM#615290 Tags
Red Red List (low evidence)	BIN1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Centronuclear myopathy 2, MIM# 255200 Tags
Red Red List (low evidence)	BLM	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Bloom syndrome, MIM# 210900 Tags
Red Red List (low evidence)	BMPER	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Diaphanospondylodysostosis, MIM#608022 Tags
Red Red List (low evidence)	C18orf32	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder (MONDO:0700092), C18orf32-related Tags
Red Red List (low evidence)	C19orf12	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Neurodegeneration with brain iron accumulation 4, MIM#614298 Tags
Red Red List (low evidence)	C20orf24	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2, MIM# 616994 Tags new gene name
Red Red List (low evidence)	C3orf58	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	CA5A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Hyperammonemia due to carbonic anhydrase VA deficiency, MIM# 615751 Tags
Red Red List (low evidence)	CACNG2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Mental retardation, autosomal dominant 10, MIM#614256 Tags
Red Red List (low evidence)	CANT1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Desbuquois dysplasia 1, MIM# 251450 Tags
Red Red List (low evidence)	CCDC8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes 3-M syndrome 3, MIM#614205 Tags
Red Red List (low evidence)	CDC6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Meier-Gorlin syndrome 5 (MIM#613805) Tags
Red Red List (low evidence)	CDH15	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Mental retardation, autosomal dominant 3 MIM#612580 Tags disputed
Red Red List (low evidence)	CDK5R1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Intellectual disability autism Tags
Red Red List (low evidence)	CDT1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Meier-Gorlin syndrome 4, MIM#613804 Tags
Red Red List (low evidence)	CFH	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Complement factor H deficiency, MIM#609814 Tags
Red Red List (low evidence)	CFHR1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, MIM#235400 Tags
Red Red List (low evidence)	CFHR3	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, MIM#235400 Tags
Red Red List (low evidence)	CHRNA4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Epilepsy, nocturnal frontal lobe, 1, MIM# 600513 Tags
Red Red List (low evidence)	CISD2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Wolfram syndrome 2, MIM#604928 Tags
Red Red List (low evidence)	CLCNKA	1 review 1 red	Other	Sources Expert Review Red Genetic Health Queensland Phenotypes Bartter syndrome, type 4b, digenic, MIM#613090 Tags
Red Red List (low evidence)	CLIC2	2 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Phenotypes Intellectual disability, X-linked, syndromic 32, 300886 Tags disputed
Red Red List (low evidence)	CLIP2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Intellectual disability Tags
Red Red List (low evidence)	CLPP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Perrault syndrome 3, MIM# 614129 Tags
Red Red List (low evidence)	CMAS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, CMAS-related Tags
Red Red List (low evidence)	CNTN3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Neurodevelopmental disorder, MONDO:0700092, CNTN3-related Tags
Red Red List (low evidence)	CNTN4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Intellectual disability SCA Tags
Red Red List (low evidence)	CNTN6	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, CNTN6-related Tags disputed
Red Red List (low evidence)	CNTNAP5	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Autism Tags
Red Red List (low evidence)	COA3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Mitochondrial complex IV deficiency, nuclear type 14, MIM# 619058 Tags
Red Red List (low evidence)	COL18A1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Knobloch syndrome, type 1, MIM#267750 Tags
Red Red List (low evidence)	COL1A2	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes 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
Red Red List (low evidence)	COLEC10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes 3MC syndrome 3, MIM# 248340 Tags
Red Red List (low evidence)	COQ5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Coenzyme Q10 deficiency, primary 9, MIM#619028 Cerebellar ataxia encephalopathy generalized tonic-clonic seizures intellectual disability Tags
Red Red List (low evidence)	CORO1A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Immunodeficiency 8, MIM#615401 Tags
Red Red List (low evidence)	COX4I2	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Phenotypes Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714 Tags
Red Red List (low evidence)	COX6B1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051 Tags
Red Red List (low evidence)	CP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Aceruloplasminaemia, MIM#604290 Tags
Red Red List (low evidence)	CPA6	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Epilepsy, familial temporal lobe, 5, MIM#614417 Febrile seizures, familial, 11, MIM#614418 Tags
Red Red List (low evidence)	CRKL	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	CRLF1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Cold-induced sweating syndrome 1, MIM#272430 Tags
Red Red List (low evidence)	CRTAP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Osteogenesis imperfecta, type VII, MIM#610682 Tags
Red Red List (low evidence)	CSTB	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800 Tags
Red Red List (low evidence)	CTSF	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM#615362 Tags
Red Red List (low evidence)	CUBN	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Megaloblastic anemia-1, Finnish type, MIM#261100 Proteinuria Tags
Red Red List (low evidence)	CYC1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Mitochondrial complex III deficiency, nuclear type 6 MIM#615453 Tags
Red Red List (low evidence)	CYFIP1	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	CYP27A1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Cerebrotendinous xanthomatosis, MIM# 213700 Tags
Red Red List (low evidence)	CYP2U1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Spastic paraplegia 56, autosomal recessive, MIM#615030 Tags
Red Red List (low evidence)	DDR2	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Warburg-Cinotti syndrome, MIM#618175, AD Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665, AR Tags
Red Red List (low evidence)	DLGAP2	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	DLK1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Red Literature Phenotypes central precocious puberty Tags
Red Red List (low evidence)	DNAH14	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), DNAH14-related Tags disputed
Red Red List (low evidence)	DNAJA1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Intellectual disability seizures Tags
Red Red List (low evidence)	DNAJC3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, MIM# 616192 Tags
Red Red List (low evidence)	DNAJC6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Parkinson disease 19a, juvenile-onset, MIM#615528 Tags
Red Red List (low evidence)	DOCK8	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes intellectual developmental disorder, autosomal dominant 2, MIM#614113 Tags
Red Red List (low evidence)	DOK7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Myasthenic syndrome, congenital, 10, MIM#254300 Tags
Red Red List (low evidence)	DPM3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937 Tags
Red Red List (low evidence)	DPP10	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	DPP6	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Intellectual disability, autosomal dominant 33 (MIM#616311) Tags disputed
Red Red List (low evidence)	DSCR3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder (MONDO:0700092), DSCR3-related Tags
Red Red List (low evidence)	DSE	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Ehlers-Danlos syndrome, musculocontractural type 2, MIM#615539 Tags
Red Red List (low evidence)	DUOXA2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Thyroid dyshormonogenesis 5, MIM#274900 Tags
Red Red List (low evidence)	DYNC2H1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, MIM#613091 Tags
Red Red List (low evidence)	EDC3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Mental retardation, autosomal recessive 50, MIM# 616460 Tags
Red Red List (low evidence)	EDNRB	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Waardenburg syndrome, type 4A, MIM#277580 Tags
Red Red List (low evidence)	EFNB1	1 review 1 red	Other	Sources Expert Review Red Genetic Health Queensland Phenotypes Craniofrontonasal dysplasia, MIM# 304110 Tags
Red Red List (low evidence)	EFNB2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Intellectual disability and congenital abnormalities Tags
Red Red List (low evidence)	EIF2AK1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Intellectual disability white matter abnormalities Tags
Red Red List (low evidence)	EIF2B1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Leukoencephalopathy with vanishing white matter, MIM#603896 Tags
Red Red List (low evidence)	EIF2B2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Leukoencephalopathy with vanishing white matter, MIM#603896 Tags
Red Red List (low evidence)	EIF2B3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Leukoencephalopathy with vanishing white matter, MIM#603896 Tags
Red Red List (low evidence)	EIF2B4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Leukoencephalopathy with vanishing white matter, MIM#603896 Tags
Red Red List (low evidence)	EIF2B5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Leukoencephalopathy with vanishing white matter, MIM#603896 Tags
Red Red List (low evidence)	ELMOD1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder MONDO:0700092,ELMOD1-related Tags
Red Red List (low evidence)	ELP1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, ELP1-related Tags
Red Red List (low evidence)	EOGT	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Adams-Oliver syndrome 4, MIM#615297 Tags
Red Red List (low evidence)	EOMES	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Microcephaly Tags
Red Red List (low evidence)	EPB41L1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Mental retardation, autosomal dominant 11, MIM# 614257 Tags
Red Red List (low evidence)	EPM2A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Epilepsy, progressive myoclonic 2A (Lafora), MIM#254780 Tags
Red Red List (low evidence)	ERCC4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Xeroderma pigmentosum, group F, MIM#278760 XFE progeroid syndrome, MIM# 610965 Tags
Red Red List (low evidence)	ERMARD	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Periventricular nodular heterotopia 6, MIM#615544 Tags
Red Red List (low evidence)	ETS1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, ETS1-related Tags
Red Red List (low evidence)	EVC	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Ellis-van Creveld syndrome, MIM#225500 Tags
Red Red List (low evidence)	EVC2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Ellis-van Creveld syndrome, MIM#225500 Tags
Red Red List (low evidence)	FA2H	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Spastic paraplegia 35, autosomal recessive, MIM#612319 Tags
Red Red List (low evidence)	FAAH2	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Phenotypes Neuropsychiatric disorder Tags
Red Red List (low evidence)	FAM111A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Kenny-Caffey syndrome, type 2, MIM# 127000 Tags
Red Red List (low evidence)	FAM160B1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes no OMIM number yet Tags
Red Red List (low evidence)	FBLN5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Cutis laxa, autosomal recessive, type IA, MIM#219100 Tags
Red Red List (low evidence)	FBN1	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Marfan syndrome, MIM#154700 Geleophysic dysplasia 2, MIM#614185 Weill-Marchesani syndrome 2, dominant, MIM#608328 Tags disputed
Red Red List (low evidence)	FGF3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706 Tags
Red Red List (low evidence)	FLNB	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Larsen syndrome, MIM#150250 Tags
Red Red List (low evidence)	FLVCR1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Ataxia, posterior column, with retinitis pigmentosa, MIM#609033 Tags
Red Red List (low evidence)	FTL	1 review 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Neurodegeneration with brain iron accumulation 3, MIM#606159 Hyperferritinemia-cataract syndrome, MIM#600886 L-ferritin deficiency, dominant and recessive, MIM#615604 Tags
Red Red List (low evidence)	FZD3	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	G6PC3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541 Tags
Red Red List (low evidence)	GABRG1	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Developmental and epileptic encephalopathy MONDO:0100062 Tags
Red Red List (low evidence)	GAN	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Giant axonal neuropathy-1, MIM# 256850 Tags
Red Red List (low evidence)	GATA1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	GBA2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Spastic paraplegia 46, autosomal recessive, MIM#614409 Tags
Red Red List (low evidence)	GBE1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Glycogen storage disease IV, MIM#232500 Tags
Red Red List (low evidence)	GCK	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Diabetes mellitus, permanent neonatal 606176 Tags
Red Red List (low evidence)	GHR	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Growth hormone insensitivity, partial, MIM#604271 Laron dwarfism, MIM#262500 Tags
Red Red List (low evidence)	GJA1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Atrioventricular septal defect 3, MIM#600309 Craniometaphyseal dysplasia, autosomal recessive, MIM#218400 Erythrokeratodermia variabilis et progressiva 3, MIM#617525 Hypoplastic left heart syndrome 1, MIM#241550 Oculodentodigital dysplasia, MIM#164200 Oculodentodigital dysplasia, autosomal recessive, MIM#257850 Palmoplantar keratoderma with congenital alopecia, MIM#104100 Syndactyly, type III, MIM# 186100 Tags
Red Red List (low evidence)	GJB1	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800 Tags
Red Red List (low evidence)	GLRA1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Hyperekplexia 1, MIM# 149400 Tags
Red Red List (low evidence)	GLUD1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Hyperinsulinism-hyperammonemia syndrome, MIM#606762 Tags
Red Red List (low evidence)	GNA14	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	GOSR2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Epilepsy, progressive myoclonic 6, MIM#614018 Tags
Red Red List (low evidence)	GPSM2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Chudley-McCullough syndrome, MIM#604213 Tags
Red Red List (low evidence)	GRPR	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	GSPT2	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	GTF2I	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	GTF2IRD1	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	GYS2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Glycogen storage disease 0, liver, MIM#240600 Tags
Red Red List (low evidence)	H19	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Phenotypes Beckwith-Wiedemann syndrome, MIM#130650 Silver-Russell syndrome, MIM#180860 Tags
Red Red List (low evidence)	HADH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM#231530 Hyperinsulinemic hypoglycemia, familial, 4, MIM#609975 Tags
Red Red List (low evidence)	HAL	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes [Histidinemia], MIM#235800 Tags
Red Red List (low evidence)	HARS2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Perrault syndrome 2, MIM# 614926 Tags
Red Red List (low evidence)	HOXD10	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Vertical talus, congenital, MIM#192950 Tags
Red Red List (low evidence)	IFT140	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, MIM#266920 Tags
Red Red List (low evidence)	IGBP1	2 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Phenotypes Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472 Tags
Red Red List (low evidence)	IGF2	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Phenotypes Growth restriction, severe, with distinctive facies, MIM#616489 Tags
Red Red List (low evidence)	IMMP2L	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Autism Tags
Red Red List (low evidence)	INS	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Diabetes mellitus, permanent neonatal, MIM#606176 Tags
Red Red List (low evidence)	INSR	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Leprechaunism, MIM# 246200 Rabson-Mendenhall syndrome, MIM# 262190 Tags
Red Red List (low evidence)	INTS8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572 Tags
Red Red List (low evidence)	IYD	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Thyroid dyshormonogenesis 4, MIM#274800 Tags
Red Red List (low evidence)	JAG1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Alagille syndrome 1, MIM#118450 Tags
Red Red List (low evidence)	KANK1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Cerebral palsy, spastic quadriplegic, 2, MIM#612900 Tags
Red Red List (low evidence)	KATNAL2	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Autism Tags
Red Red List (low evidence)	KCNC3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Spinocerebellar ataxia 13, MIM#605259 Tags
Red Red List (low evidence)	KCNJ11	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	KCTD13	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Genetic Health Queensland Phenotypes Neurodevelopmental disorder (MONDO#0700092), KCTD13-related Tags
Red Red List (low evidence)	KIF16B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Intellectual disability Tags
Red Red List (low evidence)	KIF1B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hypotonia coloboma hypoplasia of the corpus callosum severe neurodevelopmental delay Tags
Red Red List (low evidence)	KIF21A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Fibrosis of extraocular muscles, congenital, 1, MIM#135700 Tags
Red Red List (low evidence)	KIRREL3	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Intellectual disability Tags refuted
Red Red List (low evidence)	KLF8	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	KLLN	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	KYNU	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Phenotypes Hydroxykynureninuria, MIM#236800 Tags
Red Red List (low evidence)	LBR	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Greenberg skeletal dysplasia, MIM#215140 3 Pelger-Huet anomaly, MIM#169400 Tags
Red Red List (low evidence)	LGI4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Arthrogryposis multiplex congenita, neurogenic, with myelin defect, MIM#617468 Tags
Red Red List (low evidence)	LHX3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Pituitary hormone deficiency, combined, 3 (MIM#221750) Tags
Red Red List (low evidence)	LMNA	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	LRP5	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Exudative vitreoretinopathy 4, MIM# 601813 Hyperostosis, endosteal, MIM# 144750 Osteopetrosis, autosomal dominant 1, MIM# 607634 Osteoporosis-pseudoglioma syndrome, MIM# 259770 Osteosclerosis, MIM# 144750 Polycystic liver disease 4 with or without kidney cysts, MIM# 617875 van Buchem disease, type 2 607636 Tags
Red Red List (low evidence)	LSM1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes no OMIM number yet Tags
Red Red List (low evidence)	LSM11	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Aicardi-Goutieres syndrome 8, MIM# 619486 Tags
Red Red List (low evidence)	MACROD2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes no OMIM number yet Tags
Red Red List (low evidence)	MAGT1	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Red Phenotypes X-linked intellectual disability MONDO:0100284 Congenital disorder of glycosylation, type Icc, OMIM #301031 Tags disputed
Red Red List (low evidence)	MAN2A2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Congenital disorder of glycosylation, MONDO:0015286, MAN2A2-reated Tags
Red Red List (low evidence)	MARK4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder (MONDO:0700092), MARK4-related Tags
Red Red List (low evidence)	MARS2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes ?Combined oxidative phosphorylation deficiency 25, OMIM #616430 Spastic ataxia 3, autosomal recessive, OMIM #611390 Tags
Red Red List (low evidence)	MCM4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Immunodeficiency 54 OMIM #609981 Tags
Red Red List (low evidence)	MEPCE	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Intellectual disability seizures no OMIM number yet Tags
Red Red List (low evidence)	MET	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes ?Deafness, autosomal recessive 97, OMIM #616705 {Osteofibrous dysplasia, susceptibility to}, OMIM #607278 Tags
Red Red List (low evidence)	METAP1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Intellectual disability, aggression, neurodevelopmental delay Tags
Red Red List (low evidence)	MFN2	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM #609260 Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM #617087 Hereditary motor and sensory neuropathy VIA, OMIM #601152 Tags
Red Red List (low evidence)	MGME1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Mitochondrial DNA depletion syndrome 11 OMIM#615084 Tags
Red Red List (low evidence)	MGP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Keutel syndrome OMIM #245150 Tags
Red Red List (low evidence)	MID2	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Red Phenotypes ?Mental retardation, X-linked 101 OMIM#300928 Tags
Red Red List (low evidence)	MLH1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Mismatch repair cancer syndrome, OMIM #276300 Muir-Torre syndrome, OMIM #158320 Tags
Red Red List (low evidence)	MNX1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Currarino syndrome OMIM #176450 Tags
Red Red List (low evidence)	MPI	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Congenital disorder of glycosylation, type Ib, MIM# 602579 MPI-CDG MONDO:0011257 Tags
Red Red List (low evidence)	MPZ	1 review 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Various CMT types Tags
Red Red List (low evidence)	MRAP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Glucocorticoid deficiency 2 OMIM #607398 Tags
Red Red List (low evidence)	MRPS16	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Combined oxidative phosphorylation deficiency 2 OMIM #610498 Tags
Red Red List (low evidence)	MSH6	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Colorectal cancer, hereditary nonpolyposis, type 5, OMIM #614350 Mismatch repair cancer syndrome, OMIM #276300 Tags
Red Red List (low evidence)	MTM1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Red Phenotypes Myotubular myopathy, X-linked OMIM#310400 Tags
Red Red List (low evidence)	MTMR2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Charcot-Marie-Tooth disease, type 4B1 OMIM #601382 Tags
Red Red List (low evidence)	MTPAP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes ?Spastic ataxia 4, autosomal recessive OMIM#613672 Tags
Red Red List (low evidence)	MYH3	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM #193700 Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM #618436 Contractures, pterygia, and variable skeletal fusions syndrome 1A, OMIM #178110 Contractures, pterygia, and variable skeletal fusions syndrome 1B, OMIM #618469 Tags
Red Red List (low evidence)	MYMK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Carey-Fineman-Ziter syndrome OMIM #254940 Tags
Red Red List (low evidence)	MYO7A	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Deafness, autosomal dominant 11, OMIM #601317 Deafness, autosomal recessive 2, OMIM #600060 Usher syndrome, type 1B, OMIM #276900 Tags
Red Red List (low evidence)	MYT1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Intellectual disability Tags
Red Red List (low evidence)	NAA30	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes neurodevelopmental disorder, MONDO:0700092, NAA30-related Tags
Red Red List (low evidence)	NAGS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes N-acetylglutamate synthase deficiency, MIM#237310 Tags
Red Red List (low evidence)	NAT8L	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes N-acetylaspartate deficiency - MIM#614063 Tags
Red Red List (low evidence)	NDN	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Phenotypes Prader-Willi syndrome, MIM# 176270 Tags
Red Red List (low evidence)	NEGR1	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	NFE2L1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Syndromic disease, MONDO:0002254 Tags
Red Red List (low evidence)	NGF	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654 Tags
Red Red List (low evidence)	NHEJ1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM#611291 Tags
Red Red List (low evidence)	NHLRC1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Epilepsy, progressive myoclonic 2B (Lafora), MIM#254780 Tags
Red Red List (low evidence)	NIN	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Seckel syndrome 7, MIM#614851 Tags
Red Red List (low evidence)	NLGN1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Intellectual disability autism no OMIM number yet Tags
Red Red List (low evidence)	NOP10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Dyskeratosis congenita, autosomal recessive 1, MIM#224230 Tags
Red Red List (low evidence)	NRXN2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Autism Tags
Red Red List (low evidence)	NTNG1	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	NUP62	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Striatonigral degeneration, infantile, MIM#271930 Tags
Red Red List (low evidence)	ORC1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Meier-Gorlin syndrome 1, MIM# 224690 Tags
Red Red List (low evidence)	ORC4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Meier-Gorlin syndrome 2 OMIM #613800 Tags
Red Red List (low evidence)	ORC6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Meier-Gorlin syndrome 3 OMIM #613803 Tags
Red Red List (low evidence)	PANK2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Neurodegeneration with brain iron accumulation 1, MIM#234200 Tags
Red Red List (low evidence)	PAX2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Papillorenal syndrome, MIM#120330 Tags
Red Red List (low evidence)	PAX3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Craniofacial-deafness-hand syndrome, MIM#122880 Waardenburg syndrome, type 1, MIM#193500 Waardenburg syndrome, type 3, MIM#148820 Tags
Red Red List (low evidence)	PAX7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Myopathy, congenital, progressive, with scoliosis, MIM# 618578 Tags
Red Red List (low evidence)	PCBD1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Hyperphenylalaninemia, BH4-deficient, D, MIM#264070 Tags
Red Red List (low evidence)	PCDH10	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Autism Tags
Red Red List (low evidence)	PCDH15	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Deafness, autosomal recessive 23, MIM#609533 Tags
Red Red List (low evidence)	PCDH9	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	PCLO	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 3, MIM#608027 Tags
Red Red List (low evidence)	PDE11A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Pigmented nodular adrenocortical disease, primary, 2, MIM#610475 Tags
Red Red List (low evidence)	PDGFB	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Basal ganglia calcification, idiopathic, 5, MIM#615483 Tags
Red Red List (low evidence)	PHKA2	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 Phenotypes Glycogen storage disease, type IXa1, MIM#306000 Tags
Red Red List (low evidence)	PHKG2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Glycogen storage disease IXc, MIM#613027 Tags
Red Red List (low evidence)	PIGF	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM# 619356 Tags
Red Red List (low evidence)	PIK3R1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes SHORT syndrome, MIM#269880 Tags
Red Red List (low evidence)	PINK1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Parkinson disease 6, early onset, MIM#605909 Tags
Red Red List (low evidence)	PIP5K1B	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	PNP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM#613179 Tags
Red Red List (low evidence)	POC1A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM#614813 Tags
Red Red List (low evidence)	POLD1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Intellectual disability immunodeficiency Tags
Red Red List (low evidence)	POLD2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Intellectual disability immunodeficiency Tags
Red Red List (low evidence)	PON3	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	POP1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Anauxetic dysplasia 2, MIM#617396 Tags
Red Red List (low evidence)	POU1F1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Pituitary hormone deficiency, combined, 1, MIM# 613038 Tags
Red Red List (low evidence)	PPID	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Stutter disorder, (MONDO:0000723), PPID-related Tags
Red Red List (low evidence)	PPOX	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Porphyria variegata, MIM#176200 Tags
Red Red List (low evidence)	PRDM8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Epilepsy, progressive myoclonic, 10, MIM#616640 Tags
Red Red List (low evidence)	PREPL	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Myasthenic syndrome, congenital, 22, MIM#616224 Tags
Red Red List (low evidence)	PRF1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Hemophagocytic lymphohistiocytosis, familial, 2, MIM#603553 Tags
Red Red List (low evidence)	PRICKLE1	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Phenotypes Epilepsy, progressive myoclonic 1B, MIM#612437 Tags
Red Red List (low evidence)	PRKDC	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Immunodeficiency 26, with or without neurologic abnormalities, MIM#615966 Tags
Red Red List (low evidence)	PRKN	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Parkinson disease, juvenile, type 2, MIM#600116 Tags
Red Red List (low evidence)	PRKRA	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Dystonia 16, MIM#612067 Tags
Red Red List (low evidence)	PRMT9	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder, MONDO:0100500, PRMT9-related Tags
Red Red List (low evidence)	PROSER1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Syndromic disease MONDO:0002254, PROSER1-related Developmental delay, hypotonia, seizures, failure-to-thrive, strabismus, drooling, recurrent otitis media, hearing impairment, and genitourinary malformations, no OMIM # Tags founder
Red Red List (low evidence)	PRRX1	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Phenotypes Agnathia-otocephaly complex, MIM#202650 Tags
Red Red List (low evidence)	PRX	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Charcot-Marie-Tooth disease, type 4F, MIM#614895 Tags
Red Red List (low evidence)	PSMC1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss , MIM# 620071 Tags
Red Red List (low evidence)	PYGL	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Glycogen storage disease VI, MIM#232700 Tags
Red Red List (low evidence)	RAB27A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Griscelli syndrome, type 2, MIM#607624 Tags
Red Red List (low evidence)	RAB40AL	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Phenotypes MENTAL RETARDATION, X-LINKED, SYNDROMIC, MARTIN-PROBST TYPE Tags
Red Red List (low evidence)	RALGAPB	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorders, autism Tags
Red Red List (low evidence)	RANBP2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Encephalopathy, acute, infection-induced, 3, susceptibility to, MIM# 608033 Tags
Red Red List (low evidence)	RAPSN	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, MIM#616326 Tags
Red Red List (low evidence)	RASA1	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red Tags
Red Red List (low evidence)	RAX	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes MICROPHTHALMIA, ISOLATED 3 MCOP3 Tags
Red Red List (low evidence)	RBM8A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Thrombocytopenia-absent radius syndrome, MIM#274000 Tags
Red Red List (low evidence)	RBPJ	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Phenotypes Adams-Oliver syndrome 3, MIM#614814 Tags
Red Red List (low evidence)	RDH14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, RDH14-related Tags
Red Red List (low evidence)	RECQL4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Baller-Gerold syndrome, MIM#218600 RAPADILINO syndrome, MIM#266280 Rothmund-Thomson syndrome, type 2,MIM#268400 Tags
Red Red List (low evidence)	RET	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Central hypoventilation syndrome, congenital, MIM#209880 Medullary thyroid carcinoma, MIM#155240 Multiple endocrine neoplasia IIA, MIM#171400 Multiple endocrine neoplasia IIB, MIM#162300 Tags
Red Red List (low evidence)	RFX6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Mitchell-Riley syndrome, MIM#615710 Tags
Red Red List (low evidence)	RIMS1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Autism Cone-rod dystrophy 7 , MIM#603649 Tags
Red Red List (low evidence)	RIN2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Macrocephaly, alopecia, cutis laxa, and scoliosis, MIM#613075 Tags
Red Red List (low evidence)	RING1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes microcephaly intellectual disability Tags
Red Red List (low evidence)	RNF135	2 reviews 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	RNH1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, RNH1-related Tags
Red Red List (low evidence)	RPL11	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Diamond-Blackfan anemia 7, MIM#612562 Tags
Red Red List (low evidence)	RPS19	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Diamond-Blackfan anemia 1, MIM#105650 Tags
Red Red List (low evidence)	RPS28	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM#606164 Tags
Red Red List (low evidence)	RUBCN	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Spinocerebellar ataxia, autosomal recessive 15, MIM#615705 Tags
Red Red List (low evidence)	SALL1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Townes-Brocks syndrome 1, MIM#107480 Tags
Red Red List (low evidence)	SAMD9L	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Intellectual disability Tags
Red Red List (low evidence)	SBDS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Shwachman-Diamond syndrome, MIM#260400 Tags
Red Red List (low evidence)	SCN11A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Neuropathy, hereditary sensory and autonomic, type VII, MIM#615548 Tags
Red Red List (low evidence)	SCN9A	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Epilepsy, generalized, with febrile seizures plus, type 7, MIM#613863 HSAN2D, autosomal recessive, MIM#243000 Tags
Red Red List (low evidence)	SCO1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Mitochondrial complex IV deficiency, nuclear type 4, MIM# 619048 Tags
Red Red List (low evidence)	SECISBP2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes #609698 THYROID HORMONE METABOLISM, ABNORMAL Tags
Red Red List (low evidence)	SELENOI	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes developmental delay spasticity periventricular white mater abnormalities peripheral neuropathy seizures bifid uvula in some affected individuals microcephaly Tags
Red Red List (low evidence)	SELENON	1 review 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Muscular dystrophy, rigid spine, 1, MIM# 602771 Myopathy, congenital, with fiber-type disproportion, MIM# 255310 Tags
Red Red List (low evidence)	SF3B4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Acrofacial dysostosis 1, Nager type, MIM#154400 Tags
Red Red List (low evidence)	SGCA	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 3, MIM#608099 Tags
Red Red List (low evidence)	SH3TC2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Charcot-Marie-Tooth disease, type 4C, MIM#601596 Tags
Red Red List (low evidence)	SHROOM4	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Phenotypes Stocco dos Santos X-linked mental retardation syndrome, 300434 Intellectual disability Tags disputed
Red Red List (low evidence)	SLC12A1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Bartter syndrome, type 1, MIM#601678 Tags
Red Red List (low evidence)	SLC19A2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Thiamine-responsive megaloblastic anemia syndrome, MIM#249270 Tags
Red Red List (low evidence)	SLC1A3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Episodic ataxia, type 6, MIM#612656 Tags
Red Red List (low evidence)	SLC20A2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Basal ganglia calcification, idiopathic, 1, MIM#213600 Tags
Red Red List (low evidence)	SLC22A5	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Phenotypes Carnitine deficiency, systemic primary, MIM#212140 Tags
Red Red List (low evidence)	SLC25A13	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Citrullinemia, type II, neonatal-onset, MIM#605814 Tags
Red Red List (low evidence)	SLC25A19	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Microcephaly, Amish type, MIM#607196 Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710 Tags
Red Red List (low evidence)	SLC25A20	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Carnitine-acylcarnitine translocase deficiency, MIM#212138 Tags
Red Red List (low evidence)	SLC25A24	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Fontaine progeroid syndrome, MIM#612289 Tags
Red Red List (low evidence)	SLC25A4	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184 Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283 Tags
Red Red List (low evidence)	SLC29A3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Histiocytosis-lymphadenopathy plus syndrome OMIM #602782 Tags
Red Red List (low evidence)	SLC2A10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Arterial tortuosity syndrome OMIM #208050 Tags
Red Red List (low evidence)	SLC31A1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Neurodegeneration and seizures due to copper transport defect, MIM# 620306 Tags
Red Red List (low evidence)	SLC35F1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Neruodevelopmental disorder, MONDO:0700092, SLC35F1-associated Rett-like syndrome Tags
Red Red List (low evidence)	SLC39A4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Acrodermatitis enteropathica OMIM #201100 Tags
Red Red List (low evidence)	SLC44A1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes progressive ataxia tremor cognitive decline dysphagia optic atrophy dysarthria Tags
Red Red List (low evidence)	SLC5A2	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Renal glucosuria OMIM #233100 Tags
Red Red List (low evidence)	SLC6A4	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes autism spectrum disorder MONDO:0005258 {Obsessive-compulsive disorder}, MIM# 164230 Tags disputed
Red Red List (low evidence)	SLC7A7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Lysinuric protein intolerance, MIM# 222700 Tags
Red Red List (low evidence)	SLC9A9	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Phenotypes {?Autism susceptibility 16}, MIM# 613410 Tags
Red Red List (low evidence)	SLX4	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Fanconi anaemia, complementation group P, MIM# 613951 Tags
Red Red List (low evidence)	SMCHD1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Bosma arhinia microphthalmia syndrome, OMIM #603457 Fascioscapulohumeral muscular dystrophy 2, digenic OMIM #158901 Tags
Red Red List (low evidence)	SMG6	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	SNRPA	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes no OMIM # yet Tags
Red Red List (low evidence)	SNRPE	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Hypotrichosis 11 OMIM #615059 Tags
Red Red List (low evidence)	SOBP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Mental retardation, anterior maxillary protrusion, and strabismus, MIM# 613671 Tags
Red Red List (low evidence)	SOST	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Craniodiaphyseal dysplasia, autosomal dominant, OMIM #122860 Sclerosteosis 1 , OMIM #269500 Van Buchem disease, OMIM #239100 Tags
Red Red List (low evidence)	SOX8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder (MONDO:0700092), SOX8-related Tags
Red Red List (low evidence)	SP7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Osteogenesis imperfecta, type XII OMIM # 613849 Tags
Red Red List (low evidence)	SPAST	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Spastic paraplegia 4, autosomal dominant, MIM# 182601 Tags
Red Red List (low evidence)	SPEG	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Centronuclear myopathy 5 OMIM #615959 Tags
Red Red List (low evidence)	SPG7	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Spastic paraplegia 7, autosomal recessive OMIM #607259 Tags
Red Red List (low evidence)	SPINK5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Netherton syndrome OMIM #256500 Tags
Red Red List (low evidence)	SPRTN	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Ruijs-Aalfs syndrome, MIM# 616200 Tags
Red Red List (low evidence)	SPTBN5	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, SPTBN5-related Tags disputed
Red Red List (low evidence)	SPTLC1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Neuropathy, hereditary sensory and autonomic, type IA OMIM #162400 Tags
Red Red List (low evidence)	SRPX2	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Phenotypes Rolandic epilepsy, mental retardation, and speech dyspraxia, MIM# 300643 Tags
Red Red List (low evidence)	ST7	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	STAC3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Myopathy, congenital, Baily-Bloch OMIM #255995 Tags
Red Red List (low evidence)	STAT5B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Growth hormone insensitivity with immunodeficiency OMIM #245590 Tags
Red Red List (low evidence)	STK3	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	STT3B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes ?Congenital disorder of glycosylation, type Ix OMIM #615597 Tags
Red Red List (low evidence)	STX11	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Hemophagocytic lymphohistiocytosis, familial, 4, MIM# 603552 Tags
Red Red List (low evidence)	SYT14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Spinocerebellar ataxia, autosomal recessive 11, MIM# 614229 Tags
Red Red List (low evidence)	TDGF1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Tags disputed
Red Red List (low evidence)	TECR	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Mental retardation, autosomal recessive, MIM#614020 Tags
Red Red List (low evidence)	TFAP2A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Branchiooculofacial syndrome OMIM #113620 Tags
Red Red List (low evidence)	TFAP2B	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Char syndrome, OMIM #169100 Patent ductus arteriosus 2, OMIM #617035 Tags
Red Red List (low evidence)	TFG	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes ?Spastic paraplegia 57, autosomal recessive, OMIM #615658 Hereditary motor and sensory neuropathy, Okinawa type, OMIM #604484 Tags
Red Red List (low evidence)	TG	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Thyroid dyshormonogenesis 3 OMIM #274700 Tags
Red Red List (low evidence)	TGFBR1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Loeys-Dietz syndrome 1 OMIM #609192 Tags
Red Red List (low evidence)	TGFBR2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Loeys-Dietz syndrome 2 OMIM #610168 Tags
Red Red List (low evidence)	THAP1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Dystonia 6, torsion OMIM #602629 Tags
Red Red List (low evidence)	TIMM8A	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Red Phenotypes Mohr-Tranebjaerg syndrome OMIM #304700 Tags
Red Red List (low evidence)	TMEM260	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Structural heart defects and renal anomalies syndrome, MIM# 617478 Tags
Red Red List (low evidence)	TMLHE	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Phenotypes {Autism, susceptibility to, X-linked 6} 300872 Tags
Red Red List (low evidence)	TP63	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red 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
Red Red List (low evidence)	TPH2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes {Attention deficit-hyperactivity disorder, susceptibility to, 7} 613003 Tags
Red Red List (low evidence)	TPK1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), MIM# 614458 Tags
Red Red List (low evidence)	TPR	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Intellectual developmental disorder, autosomal recessive 79, MIM# 620393 Tags
Red Red List (low evidence)	TRAPPC6A	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	TREM2	1 review 1 red	Unknown	Sources Expert list Expert Review Red Phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 OMIM #618193 Tags
Red Red List (low evidence)	TRHR	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Hypothyroidism, congenital, nongoitrous, 7 OMIM #618573 Tags
Red Red List (low evidence)	TRIM32	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Bardet-Biedl syndrome 11, MIM# 615988 Tags
Red Red List (low evidence)	TRIM37	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Mulibrey nanism OMIM #253250 Tags
Red Red List (low evidence)	TSEN34	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Pontocerebellar hypoplasia type 2C, MIM# 612390 Tags
Red Red List (low evidence)	TSHR	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Hypothyroidism, congenital, nongoitrous, 1, MIM# 275200 Tags
Red Red List (low evidence)	TTC21B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Nephronophthisis 12, OMIM #613820 Short-rib thoracic dysplasia 4 with or without polydactyly OMIM #613819 Tags
Red Red List (low evidence)	TTR	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Amyloidosis, hereditary, transthyretin-related, OMIM #105210 Carpal tunnel syndrome, familial OMIM #115430 Tags
Red Red List (low evidence)	TUBA8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180 Tags
Red Red List (low evidence)	TWNK	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM #271245 Perrault syndrome 5, OMIM #616138 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM #609286 Tags
Red Red List (low evidence)	TXNL4A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Burn-McKeown syndrome, MIM# 608572 Tags
Red Red List (low evidence)	UBE2U	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Retinoschisis cataracts learning disabilities developmental delay Tags
Red Red List (low evidence)	UBR4	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Episodic ataxia Tags
Red Red List (low evidence)	UCHL1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Spastic paraplegia 79, autosomal recessive OMIM #615491 Tags
Red Red List (low evidence)	UGT1A1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Crigler-Najjar syndrome, type I, OMIM #218800 Crigler-Najjar syndrome, type II, OMIM #606785 Tags
Red Red List (low evidence)	UNC13D	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Hemophagocytic lymphohistiocytosis, familial, 3 OMIM #608898 Tags
Red Red List (low evidence)	UQCRB	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Mitochondrial complex III deficiency, nuclear type 3 OMIM #615158 Tags
Red Red List (low evidence)	UQCRC2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Mitochondrial complex III deficiency, nuclear type 5 OMIM #615160 Tags
Red Red List (low evidence)	UQCRQ	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Mitochondrial complex III deficiency, nuclear type 4 OMIM #615159 Tags
Red Red List (low evidence)	UROC1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Urocanase deficiency, MIM#276880 Tags
Red Red List (low evidence)	VAMP1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Spastic ataxia 1, autosomal dominant, OMIM #108600 Myasthenic syndrome, congenital, 25, OMIM #618323 Tags
Red Red List (low evidence)	VANGL1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Caudal regression syndrome, OMIM #600145 {Neural tube defects, susceptibility to}, OMIM #182940 Tags
Red Red List (low evidence)	VPS45	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Neutropenia, severe congenital, 5, autosomal recessive OMIM #615285 Tags
Red Red List (low evidence)	WASHC5	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Spastic paraplegia 8, autosomal dominant, OMIM #603563 Ritscher-Schinzel syndrome 1 OMIM #220210 Tags
Red Red List (low evidence)	WDR13	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	WDR19	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes ?Short-rib thoracic dysplasia 5 with or without polydactyly, OMIM #614376 Nephronophthisis 13, OMIM #614377 Senior-Loken syndrome 8, OMIM#616307 Tags
Red Red List (low evidence)	WDR34	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly OMIM #615633 Tags
Red Red List (low evidence)	WRAP53	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Dyskeratosis congenita, autosomal recessive 3 OMIM# 613988 Tags
Red Red List (low evidence)	XIST	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	XPNPEP3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Nephronophthisis-like nephropathy 1, OMIM #613159 Tags
Red Red List (low evidence)	YWHAZ	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Intellectual disability, MONDO:0001071 Tags
Red Red List (low evidence)	ZCCHC12	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	ZDHHC15	3 reviews 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Phenotypes Intellectual disability, X-linked 91, 300577 Tags disputed
Red Red List (low evidence)	ZFP57	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert list Expert Review Red Phenotypes {Diabetes mellitus, transient neonatal, 1} OMIM# 601410 Tags
Red Red List (low evidence)	ZNF41	2 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Phenotypes non-syndromic X-linked intellectual disability MONDO:0019181 Tags disputed
Red Red List (low evidence)	ZNF423	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Joubert syndrome 19, OMIM# 614844 Tags
Red Red List (low evidence)	ZNF507	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	ZNF674	2 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Red Tags disputed
Red Red List (low evidence)	ZNF804A	1 review 1 red	Unknown	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	ZNF81	3 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Phenotypes X-linked intellectual disability MONDO:0100284 Tags disputed
Red Red List (low evidence)	ZNHIT6	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
No list No list	DIP2B	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Genetic Health Queensland Phenotypes Mental retardation, FRA12A type, MIM# 136630 Tags 5'UTR
No list No list	DMPK	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Genetic Health Queensland Phenotypes Myotonic dystrophy 1, MIM#160900 Tags STR

Intellectual disability syndromic and non-syndromic (Version 0.6063)

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