PanelApp (stage)
  1. Panels
  2. Prepair 500+
Description
This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).

It has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.

Genes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.

Please note only Green genes are analysed and reported.
Panel Activity

1 reviewer

  • Santosh Varughese (University of Melbourne)

629 Entities

1 reviewed, 629 green

List Entity Reviews Mode of inheritance Details
629 Entitiess
Green Green List (high evidence)
AAAS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Achalasia-addisonianism-alacrimia syndrome, 231550 (3)
Tags
Green Green List (high evidence)
AARS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Combined oxidative phosphorylation deficiency 8, 614096 (3)
Tags
Green Green List (high evidence)
ABCA12
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 4A, 601277 (3)
Tags
Green Green List (high evidence)
ABCA3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)
Tags
Green Green List (high evidence)
ABCB11
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cholestasis, progressive familial intrahepatic 2, 601847 (3)
Tags
Green Green List (high evidence)
ABCB4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cholestasis, progressive familial intrahepatic 3, 602347 (3)
Tags
Green Green List (high evidence)
ABCC8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3)
Tags
Green Green List (high evidence)
ABCD1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Adrenoleukodystrophy, 300100 (3)
Tags
Green Green List (high evidence)
ACAD9
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex I deficiency due to ACAD9 deficiency, 611126 (3)
Tags
Green Green List (high evidence)
ACADM
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM #201450
Tags
Green Green List (high evidence)
ACADVL
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • VLCAD deficiency, 201475 (3)
Tags
Green Green List (high evidence)
ACAT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Alpha-methylacetoacetic aciduria, 203750 (3)
Tags
Green Green List (high evidence)
ACOX1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)
Tags
Green Green List (high evidence)
ADA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Adenosine deaminase deficiency, partial, 102700 (3)
Tags
Green Green List (high evidence)
ADAMTS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ehlers-Danlos syndrome, type VIIC, 225410 (3)
Tags
Green Green List (high evidence)
ADAR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Aicardi-Goutieres syndrome 6, 615010 (3)
Tags
Green Green List (high evidence)
ADGRG1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Polymicrogyria, bilateral frontoparietal, 606854 (3)
Tags
Green Green List (high evidence)
ADGRV1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Usher syndrome, type 2C, 605472 (3)
Tags
Green Green List (high evidence)
ADSL
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Adenylosuccinase deficiency, 103050 (3)
Tags
Green Green List (high evidence)
AGA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Aspartylglucosaminuria, 208400 (3)
Tags
Green Green List (high evidence)
AGK
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Sengers syndrome, 212350 (3)
Tags
Green Green List (high evidence)
AGL
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glycogen storage disease IIIa, 232400 (3)
Tags
Green Green List (high evidence)
AGPS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Chondrodysplasia punctata, rhizomelic, type 3, 600121 (3)
Tags
Green Green List (high evidence)
AGXT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hyperoxaluria, primary, type 1, 259900 (3)
Tags
Green Green List (high evidence)
AHI1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Joubert syndrome-3, 608629 (3)
Tags
Green Green List (high evidence)
AIFM1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cowchock syndrome, 310490 (3)
Tags
Green Green List (high evidence)
AIPL1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cone-rod dystrophy, 604393 (3)
Tags
Green Green List (high evidence)
AK2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Reticular dysgenesis, 267500 (3)
Tags
Green Green List (high evidence)
ALDH18A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spastic paraplegia 9B, autosomal recessive, 616586 (3)
Tags
Green Green List (high evidence)
ALDH3A2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Sjogren-Larsson syndrome, 270200 (3)
Tags
Green Green List (high evidence)
ALDH5A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Succinic semialdehyde dehydrogenase deficiency, 271980 (3)
Tags
Green Green List (high evidence)
ALDH7A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epilepsy, pyridoxine-dependent, 266100 (3)
Tags
Green Green List (high evidence)
ALDOB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Fructose intolerance, 229600 (3)
Tags
Green Green List (high evidence)
ALG1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital disorder of glycosylation, type Ik, 608540 (3)
Tags
Green Green List (high evidence)
ALG3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital disorder of glycosylation, type Id, 601110 (3)
Tags
Green Green List (high evidence)
ALG6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital disorder of glycosylation, type Ic, 603147 (3)
Tags
Green Green List (high evidence)
ALMS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Alstrom syndrome, 203800 (3)
Tags
Green Green List (high evidence)
ALPL
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hypophosphatasia, infantile, 241500 (3)
Tags
Green Green List (high evidence)
AMPD2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pontocerebellar hypoplasia, type 9, 615809 (3)
Tags
Green Green List (high evidence)
AMT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glycine encephalopathy, 605899 (3)
Tags
Green Green List (high evidence)
AP1S2
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked syndromic 5, 304340 (3)
Tags
Green Green List (high evidence)
AQP2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Diabetes insipidus, nephrogenic, 125800 (3)
Tags
Green Green List (high evidence)
ARG1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Argininemia, 207800 (3)
Tags
Green Green List (high evidence)
ARL13B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Joubert syndrome 8, 612291 (3)
Tags
Green Green List (high evidence)
ARL6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bardet-Biedl syndrome 3, 600151 (3)
Tags
Green Green List (high evidence)
ARSA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Metachromatic leukodystrophy, 250100 (3)
Tags
Green Green List (high evidence)
ARSB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3)
Tags
Green Green List (high evidence)
ARX
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hydranencephaly with abnormal genitalia, 300215 (3)
Tags
Green Green List (high evidence)
ASL
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Argininosuccinic aciduria, 207900 (3)
Tags
Green Green List (high evidence)
ASNS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Asparagine synthetase deficiency, 615574 (3)
Tags
Green Green List (high evidence)
ASPA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Canavan disease, 271900 (3)
Tags
Green Green List (high evidence)
ASPM
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly 5, primary, autosomal recessive, 608716 (3)
Tags
Green Green List (high evidence)
ASS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Citrullinemia, 215700 (3)
Tags
Green Green List (high evidence)
ATM
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ataxia-telangiectasia, 208900 (3)
Tags
Green Green List (high evidence)
ATP6V1B1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Renal tubular acidosis with deafness, 267300 (3)
Tags
Green Green List (high evidence)
ATP7A
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Menkes disease, 309400 (3)
Tags
Green Green List (high evidence)
ATP7B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Wilson disease, 277900 (3)
Tags
Green Green List (high evidence)
ATP8B1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cholestasis, progressive familial intrahepatic 1, 211600 (3)
Tags
Green Green List (high evidence)
ATR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Seckel syndrome 1, 210600 (3)
Tags
Green Green List (high evidence)
ATRX
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3)
Tags
Green Green List (high evidence)
AUH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • 3-methylglutaconic aciduria, type I, 250950 (3)
Tags
Green Green List (high evidence)
B3GLCT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Peters-plus syndrome, 261540 (3)
Tags
Green Green List (high evidence)
BBS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bardet-Biedl syndrome 1, 209900 (3)
Tags
Green Green List (high evidence)
BBS10
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bardet-Biedl syndrome 10, 615987 (3)
Tags
Green Green List (high evidence)
BBS12
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bardet-Biedl syndrome 12, 615989 (3)
Tags
Green Green List (high evidence)
BBS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bardet-Biedl syndrome 2, 615981 (3)
Tags
Green Green List (high evidence)
BBS4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bardet-Biedl syndrome 4, 615982 (3)
Tags
Green Green List (high evidence)
BBS5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bardet-Biedl syndrome 5, 615983 (3)
Tags
Green Green List (high evidence)
BBS7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bardet-Biedl syndrome 7, 615984 (3)
Tags
Green Green List (high evidence)
BBS9
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bardet-Biedl syndrome 9, 615986 (3)
Tags
Green Green List (high evidence)
BCKDHA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Maple syrup urine disease, type Ia, 248600 (3)
Tags
Green Green List (high evidence)
BCKDHB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Maple syrup urine disease, type Ib, 248600 (3)
Tags
Green Green List (high evidence)
BCS1L
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • GRACILE syndrome, 603358 (3)
Tags
Green Green List (high evidence)
BLM
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bloom syndrome, 210900 (3)
Tags
Green Green List (high evidence)
BRAT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3)
Tags
Green Green List (high evidence)
BRWD3
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked 93, 300659 (3)
Tags
Green Green List (high evidence)
BSND
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bartter syndrome, type 4a, 602522 (3)
Tags
Green Green List (high evidence)
BTK
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Agammaglobulinemia and isolated hormone deficiency, 307200 (3)
Tags
Green Green List (high evidence)
C5orf42
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Joubert syndrome 17, 614615 (3)
Tags
Green Green List (high evidence)
CANT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Desbuquois dysplasia, 251450 (3)
Tags
Green Green List (high evidence)
CAPN3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2A, 253600 (3)
Tags
Green Green List (high evidence)
CASK
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, with or without nystagmus
Tags
Green Green List (high evidence)
CASQ2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3)
Tags
Green Green List (high evidence)
CC2D1A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, autosomal recessive 3, 608443 (3)
Tags
Green Green List (high evidence)
CC2D2A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Joubert syndrome 9, 612285 (3)
Tags
Green Green List (high evidence)
CCBE1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 (3)
Tags
Green Green List (high evidence)
CCDC103
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 17, 614679 (3)
Tags
Green Green List (high evidence)
CCDC39
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 14, 613807 (3)
Tags
Green Green List (high evidence)
CCDC88C
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hydrocephalus, nonsyndromic, autosomal recessive, 236600 (3)
Tags
Green Green List (high evidence)
CD3D
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 19, 615617 (3)
Tags
Green Green List (high evidence)
CD40
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency with hyper-IgM, type 3, 606843 (3)
Tags
Green Green List (high evidence)
CD40LG
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency, X-linked, with hyper-IgM, 308230 (3)
Tags
Green Green List (high evidence)
CDH23
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Usher syndrome, type 1D, 601067 (3)
Tags
Green Green List (high evidence)
CENPJ
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly 6, primary, autosomal recessive, 608393 (3)
Tags
Green Green List (high evidence)
CEP152
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Seckel syndrome 5, 613823 (3)
Tags
Green Green List (high evidence)
CEP290
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Joubert syndrome 5, 610188 (3)
Tags
Green Green List (high evidence)
CEP41
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Joubert syndrome 15, 614464 (3)
Tags
Green Green List (high evidence)
CFTR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cystic fibrosis, 219700 (3)
Tags
Green Green List (high evidence)
CHAT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)
Tags
Green Green List (high evidence)
CHRNE
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3)
Tags
Green Green List (high evidence)
CHRNG
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Escobar syndrome, 265000 (3)
Tags
Green Green List (high evidence)
CIITA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bare lymphocyte syndrome, type II, complementation group A, 209920 (3)
Tags
Green Green List (high evidence)
CKAP2L
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Filippi syndrome, 272440 (3)
Tags
Green Green List (high evidence)
CLCN5
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Dent disease, 300009 (3)
Tags
Green Green List (high evidence)
CLCN7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Osteopetrosis, autosomal recessive 4, 611490 (3)
Tags
Green Green List (high evidence)
CLN3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 3, 204200 (3)
Tags
Green Green List (high evidence)
CLN5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 5, 256731 (3)
Tags
Green Green List (high evidence)
CLN6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ceroid lipofuscinosis, neuronal 6, 601780 (3)
Tags
Green Green List (high evidence)
CLN8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 8, 600143 (3)
Tags
Green Green List (high evidence)
CLP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pontocerebellar hypoplasia, type 10, 615803 (3)
Tags
Green Green List (high evidence)
CLPB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 (3)
Tags
Green Green List (high evidence)
CLRN1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Usher syndrome, type 3A, 276902 (3)
Tags
Green Green List (high evidence)
CNGB3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Macular degeneration, juvenile, 248200 (3)
Tags
Green Green List (high evidence)
COL11A2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Fibrochondrogenesis 2, 614524 (3)
Tags
Green Green List (high evidence)
COL17A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
Tags
Green Green List (high evidence)
COL18A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Knobloch syndrome, type 1, 267750 (3)
Tags
Green Green List (high evidence)
COL27A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Steel Syndrome
Tags
Green Green List (high evidence)
COL4A3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Alport syndrome, autosomal recessive, 203780 (3)
Tags
Green Green List (high evidence)
COL4A4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Alport syndrome, autosomal recessive, 203780 (3)
Tags
Green Green List (high evidence)
COL4A5
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Alport syndrome 1, X-linked
Tags
Green Green List (high evidence)
COL6A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ullrich congenital muscular dystrophy 1, 254090 (3)
Tags
Green Green List (high evidence)
COL7A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epidermolysis bullosa dystrophica, AR, 226600 (3)
Tags
Green Green List (high evidence)
COLEC11
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • 3MC syndrome 2, 265050 (3)
Tags
Green Green List (high evidence)
COLQ
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myasthenic syndrome, congenital, 5, 603034 (3)
Tags
Green Green List (high evidence)
COX15
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3)
Tags
Green Green List (high evidence)
CPS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Carbamoylphosphate synthetase I deficiency, 237300 (3)
Tags
Green Green List (high evidence)
CPT1A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • CPT deficiency, hepatic, type IA, 255120 (3)
Tags
Green Green List (high evidence)
CPT2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • CPT II deficiency, lethal neonatal, 608836 (3)
Tags
Green Green List (high evidence)
CRB1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leber congenital amaurosis 8, 613835 (3)
Tags
Green Green List (high evidence)
CRTAP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Osteogenesis imperfecta, type VII, 610682 (3)
Tags
Green Green List (high evidence)
CSPP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Joubert syndrome 21, 615636 (3)
Tags
Green Green List (high evidence)
CTNS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cystinosis, nephropathic, 219800 (3)
Tags
Green Green List (high evidence)
CTSA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Galactosialidosis, 256540 (3)
Tags
Green Green List (high evidence)
CTSC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Papillon-Lefevre syndrome, 245000 (3)
Tags
Green Green List (high evidence)
CTSD
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 10, 610127 (3)
Tags
Green Green List (high evidence)
CTSK
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pycnodysostosis, 265800 (3)
Tags
Green Green List (high evidence)
CUL4B
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 (3)
Tags
Green Green List (high evidence)
CYBA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3)
Tags
Green Green List (high evidence)
CYBB
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Chronic granulomatous disease, X-linked, 306400 (3)
Tags
Green Green List (high evidence)
CYP11A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3)
Tags
Green Green List (high evidence)
CYP11B2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3)
Tags
Green Green List (high evidence)
CYP17A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • 17,20-lyase deficiency, isolated, 202110 (3)
Tags
Green Green List (high evidence)
CYP1B1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3)
Tags
Green Green List (high evidence)
CYP27A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cerebrotendinous xanthomatosis, 213700 (3)
Tags
Green Green List (high evidence)
CYP7B1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bile acid synthesis defect, congenital, 3, 613812 (3)
Tags
Green Green List (high evidence)
D2HGDH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • D-2-hydroxyglutaric aciduria, 600721 (3)
Tags
Green Green List (high evidence)
DBT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Maple syrup urine disease, type II, 248600 (3)
Tags
Green Green List (high evidence)
DCAF17
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Woodhouse-Sakati syndrome, 241080 (3)
Tags
Green Green List (high evidence)
DCLRE1C
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Severe combined immunodeficiency, Athabascan type, 602450 (3)
Tags
Green Green List (high evidence)
DCX
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lissencephaly, X-linked, 300067 (3)
Tags
Green Green List (high evidence)
DDC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Aromatic L-amino acid decarboxylase deficiency, 608643 (3)
Tags
Green Green List (high evidence)
DDX11
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Warsaw breakage syndrome, 613398 (3)
Tags
Green Green List (high evidence)
DGAT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • ?Diarrhea 7, protein-losing enteropathy type
Tags
Green Green List (high evidence)
DGUOK
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3)
Tags
Green Green List (high evidence)
DHCR24
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Desmosterolosis, 602398 (3)
Tags
Green Green List (high evidence)
DHCR7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Smith-Lemli-Opitz syndrome, 270400 (3)
Tags
Green Green List (high evidence)
DHDDS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Retinitis pigmentosa 59, 613861 (3)
Tags
Green Green List (high evidence)
DIS3L2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Perlman syndrome, 267000 (3)
Tags
Green Green List (high evidence)
DKC1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Dyskeratosis congenita, X-linked, 305000 (3)
Tags
Green Green List (high evidence)
DLD
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Dihydrolipoamide dehydrogenase deficiency, 246900 (3)
Tags
Green Green List (high evidence)
DLG3
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked 90, 300850 (3)
Tags
Green Green List (high evidence)
DLL3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spondylocostal dysostosis 1, autosomal recessive, 277300 (3)
Tags
Green Green List (high evidence)
DMD
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Duchenne muscular dystrophy, 310200 (3)
Tags
Green Green List (high evidence)
DNAH11
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
Tags
Green Green List (high evidence)
DNAH5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
Tags
Green Green List (high evidence)
DNAI1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3)
Tags
Green Green List (high evidence)
DNAI2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3)
Tags
Green Green List (high evidence)
DNMT3B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3)
Tags
Green Green List (high evidence)
DOCK6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Adams-Oliver syndrome 2, 614219 (3)
Tags
Green Green List (high evidence)
DOK7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myasthenic syndrome, congenital, 10, 254300 (3)
Tags
Green Green List (high evidence)
DYM
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Dyggve-Melchior-Clausen disease, 223800 (3)
Tags
Green Green List (high evidence)
DYNC2H1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3)
Tags
Green Green List (high evidence)
DYSF
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2B, 253601 (3)
Tags
Green Green List (high evidence)
ECHS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3)
Tags
Green Green List (high evidence)
EDA
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3)
Tags
Green Green List (high evidence)
EIF2AK3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Wolcott-Rallison syndrome, 226980 (3)
Tags
Green Green List (high evidence)
EIF2B1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukoencephalopathy with vanishing white matter, 603896 (3)
Tags
Green Green List (high evidence)
EIF2B2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukoencephalopathy with vanishing white matter, 603896 (3)
Tags
Green Green List (high evidence)
EIF2B3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukoencephalopathy with vanishing white matter, 603896 (3)
Tags
Green Green List (high evidence)
EIF2B4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukoencephaly with vanishing white matter, 603896 (3)
Tags
Green Green List (high evidence)
EIF2B5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukoencephalopathy with vanishing white matter, 603896 (3)
Tags
Green Green List (high evidence)
ELP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Dysautonomia, familial, 223900 (3)
Tags
Green Green List (high evidence)
EMD
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3)
Tags
Green Green List (high evidence)
ENPP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3)
Tags
Green Green List (high evidence)
EPG5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Vici syndrome, 242840 (3)
Tags
Green Green List (high evidence)
ERCC2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cerebrooculofacioskeletal syndrome 2, 610756 (3)
Tags
Green Green List (high evidence)
ERCC4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Fanconi anemia, complementation group Q, 615272 (3)
Tags
Green Green List (high evidence)
ERCC5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Xeroderma pigmentosum, group G, 278780 (3)
Tags
Green Green List (high evidence)
ERCC6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cockayne syndrome, type B, 133540 (3)
Tags
Green Green List (high evidence)
ERCC8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cockayne syndrome, type A, 216400 (3)
Tags
Green Green List (high evidence)
ESCO2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • SC phocomelia syndrome, 269000 (3)
Tags
Green Green List (high evidence)
ETFA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glutaric acidemia IIA, 231680 (3)
Tags
Green Green List (high evidence)
ETFB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glutaric acidemia IIB, 231680 (3)
Tags
Green Green List (high evidence)
ETFDH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glutaric acidemia IIC, 231680 (3)
Tags
Green Green List (high evidence)
ETHE1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ethylmalonic encephalopathy, 602473 (3)
Tags
Green Green List (high evidence)
EVC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ellis-van Creveld syndrome, 225500 (3)
Tags
Green Green List (high evidence)
EVC2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ellis-van Creveld syndrome, 225500 (3)
Tags
Green Green List (high evidence)
EXOSC3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pontocerebellar hypoplasia, type 1B, 614678 (3)
Tags
Green Green List (high evidence)
EXOSC8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pontocerebellar hypoplasia, type 1C, 616081 (3)
Tags
Green Green List (high evidence)
F2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hypoprothrombinaemia (MIM#613679)
  • Dysprothrombinaemia, 613679
Tags
Green Green List (high evidence)
FAH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Tyrosinemia, type I, 276700 (3)
Tags
Green Green List (high evidence)
FAM126A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukodystrophy, hypomyelinating, 5, 610532 (3)
Tags
Green Green List (high evidence)
FANCA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Fanconi anemia, complementation group A, 227650 (3)
Tags
Green Green List (high evidence)
FANCB
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Fanconi anemia, complementation group B, 300514 (3)
Tags
Green Green List (high evidence)
FANCC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Fanconi anemia, complementation group C, 227645 (3)
Tags
Green Green List (high evidence)
FANCD2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Fanconi anemia, complementation group D2, 227646 (3)
Tags
Green Green List (high evidence)
FANCE
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Fanconi anemia, complementation group E, 600901 (3)
Tags
Green Green List (high evidence)
FANCF
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Fanconi anemia, complementation group F, 603467 (3)
Tags
Green Green List (high evidence)
FANCG
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Fanconi anemia, complementation group G, 614082 (3)
Tags
Green Green List (high evidence)
FANCI
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Fanconi anemia, complementation group I, 609053 (3)
Tags
Green Green List (high evidence)
FANCL
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Fanconi anemia, complementation group L, 614083 (3)
Tags
Green Green List (high evidence)
FAT4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3)
Tags
Green Green List (high evidence)
FBP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Fructose-1,6-bisphosphatase deficiency, 229700 (3)
Tags
Green Green List (high evidence)
FBXO7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Parkinson disease 15, autosomal recessive, 260300 (3)
Tags
Green Green List (high evidence)
FH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Fumarase deficiency, 606812 (3)
Tags
Green Green List (high evidence)
FHL1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3)
Tags
Green Green List (high evidence)
FKBP10
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bruck syndrome 1, 259450 (3)
Tags
Green Green List (high evidence)
FKRP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3)
Tags
Green Green List (high evidence)
FKTN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3)
Tags
Green Green List (high evidence)
FLNA
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • FG syndrome 2, 300321 (3)
Tags
Green Green List (high evidence)
FMR1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Fragile X syndrome
Tags
Green Green List (high evidence)
FOXN1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3)
Tags
Green Green List (high evidence)
FOXRED1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex I deficiency, 252010 (3)
Tags
Green Green List (high evidence)
FRAS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Fraser syndrome, 219000 (3)
Tags
Green Green List (high evidence)
FREM2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Fraser syndrome, 219000 (3)
Tags
Green Green List (high evidence)
FTSJ1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked 9, 309549 (3)
Tags
Green Green List (high evidence)
FUCA1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Fucosidosis, 230000 (3)
Tags
Green Green List (high evidence)
G6PC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glycogen storage disease Ia, 232200 (3)
Tags
Green Green List (high evidence)
G6PC3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Dursun syndrome, 612541 (3)
Tags
Green Green List (high evidence)
GAA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glycogen storage disease II, 232300 (3)
Tags
Green Green List (high evidence)
GALC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Krabbe disease, 245200 (3)
Tags
Green Green List (high evidence)
GALNS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mucopolysaccharidosis IVA, 253000 (3)
Tags
Green Green List (high evidence)
GALT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Galactosemia, 230400 (3)
Tags
Green Green List (high evidence)
GAMT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cerebral creatine deficiency syndrome 2, 612736 (3)
Tags
Green Green List (high evidence)
GATM
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cerebral creatine deficiency syndrome 3, 612718 (3)
Tags
Green Green List (high evidence)
GBE1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glycogen storage disease IV, 232500 (3)
Tags
Green Green List (high evidence)
GCDH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glutaricaciduria, type I, 231670 (3)
Tags
Green Green List (high evidence)
GCH1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3)
Tags
Green Green List (high evidence)
GDAP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3)
Tags
Green Green List (high evidence)
GDF1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Right atrial isomerism, 208530 (3)
Tags
Green Green List (high evidence)
GDF5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Chondrodysplasia, Grebe type, 200700 (3)
Tags
Green Green List (high evidence)
GFM1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Combined oxidative phosphorylation deficiency 1, 609060 (3)
Tags
Green Green List (high evidence)
GHR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Laron dwarfism, 262500 (3)
Tags
Green Green List (high evidence)
GJB1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 (MIM#302800)
Tags
Green Green List (high evidence)
GLA
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Fabry disease, MIM#301500
Tags
Green Green List (high evidence)
GLB1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mucopolysaccharidosis type IVB (Morquio), 253010 (3)
Tags
Green Green List (high evidence)
GLDC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glycine encephalopathy, 605899 (3)
Tags
Green Green List (high evidence)
GLE1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Arthrogryposis, lethal, with anterior horn cell disease, 611890 (3)
Tags
Green Green List (high evidence)
GNB5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Intellectual developmental disorder with cardiac arrhythmia, 617173 (3), Autosomal recessive
Tags
Green Green List (high evidence)
GNE
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Inclusion body myopathy, autosomal recessive, 600737 (3)
Tags
Green Green List (high evidence)
GNPAT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Chondrodysplasia punctata, rhizomelic, type 2, 222765 (3)
Tags
Green Green List (high evidence)
GNPTAB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mucolipidosis III alpha/beta, 252600 (3)
Tags
Green Green List (high evidence)
GNPTG
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mucolipidosis III gamma, 252605 (3)
Tags
Green Green List (high evidence)
GNS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mucopolysaccharidosis type IIID, 252940 (3)
Tags
Green Green List (high evidence)
GORAB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Geroderma osteodysplasticum, 231070 (3)
Tags
Green Green List (high evidence)
GPC3
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Simpson-Golabi-Behmel syndrome, type 1, 312870 (3)
Tags
Green Green List (high evidence)
GPR143
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ocular albinism, type I, Nettleship-Falls type, 300500 (3)
Tags
Green Green List (high evidence)
GPSM2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Chudley-McCullough syndrome, 604213 (3)
Tags
Green Green List (high evidence)
GSS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glutathione synthetase deficiency, 266130 (3)
Tags
Green Green List (high evidence)
GUCY2D
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leber congenital amaurosis 1, 204000 (3)
Tags
Green Green List (high evidence)
GUSB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mucopolysaccharidosis VII, 253220 (3)
Tags
Green Green List (high evidence)
HADH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3)
Tags
Green Green List (high evidence)
HADHA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Fatty liver, acute, of pregnancy, 609016 (3)
Tags
Green Green List (high evidence)
HADHB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Trifunctional protein deficiency, 609015 (3)
Tags
Green Green List (high evidence)
HAMP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hemochromatosis, type 2B, 613313 (3)
Tags
Green Green List (high evidence)
HAX1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neutropenia, severe congenital 3, autosomal recessive, 610738 (3)
Tags
Green Green List (high evidence)
HBB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Thalassemias, beta-, 613985 (3)
Tags
Green Green List (high evidence)
HCFC1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3)
Tags
Green Green List (high evidence)
HEXA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Tay-Sachs disease, 272800 (3)
Tags
Green Green List (high evidence)
HEXB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3)
Tags
Green Green List (high evidence)
HFE2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hemochromatosis, type 2A, 602390 (3)
Tags
Green Green List (high evidence)
HGSNAT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3)
Tags
Green Green List (high evidence)
HIBCH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)
Tags
Green Green List (high evidence)
HLCS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Holocarboxylase synthetase deficiency, 253270 (3)
Tags
Green Green List (high evidence)
HMGCL
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • HMG-CoA lyase deficiency, 246450 (3)
Tags
Green Green List (high evidence)
HMGCS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • HMG-CoA synthase-2 deficiency, 605911 (3)
Tags
Green Green List (high evidence)
HPD
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Tyrosinemia, type III, 276710 (3)
Tags
Green Green List (high evidence)
HPRT1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lesch-Nyhan syndrome, 300322 (3)
Tags
Green Green List (high evidence)
HPS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hermansky-Pudlak syndrome 1, 203300 (3)
Tags
Green Green List (high evidence)
HPS3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hermansky-Pudlak syndrome 3, 614072 (3)
Tags
Green Green List (high evidence)
HPS4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hermansky-Pudlak syndrome 4, 614073 (3)
Tags
Green Green List (high evidence)
HPS5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hermansky-Pudlak syndrome 5, 614074 (3)
Tags
Green Green List (high evidence)
HPS6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hermansky-Pudlak syndrome 6, 614075 (3)
Tags
Green Green List (high evidence)
HSD17B10
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • HSD10 mitochondrial disease
Tags
Green Green List (high evidence)
HSD17B4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • D-bifunctional protein deficiency, 261515 (3)
Tags
Green Green List (high evidence)
HSD3B2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • 3-beta-hydroxysteroid dehydrogenase, type II, deficiency, 201810 (3)
Tags
Green Green List (high evidence)
HUWE1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked syndromic, Turner type, 300706 (3)
Tags
Green Green List (high evidence)
HYLS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hydrolethalus syndrome, 236680 (3)
Tags
Green Green List (high evidence)
IDS
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mucopolysaccharidosis II, 309900 (3)
Tags
Green Green List (high evidence)
IDUA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mucopolysaccharidosis Ih, 607014 (3)
Tags
Green Green List (high evidence)
IGHMBP2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neuronopathy, distal hereditary motor, type VI, 604320 (3)
Tags
Green Green List (high evidence)
IKBKB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 15, 615592 (3)
Tags
Green Green List (high evidence)
IL1RAPL1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked 21/34, 300143 (3)
Tags
Green Green List (high evidence)
IL2RG
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Severe combined immunodeficiency, X-linked, 300400 (3)
Tags
Green Green List (high evidence)
IL7R
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)
Tags
Green Green List (high evidence)
INPP5E
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Joubert syndrome 1, 213300 (3)
Tags
Green Green List (high evidence)
INVS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nephronophthisis 2, infantile, 602088 (3)
Tags
Green Green List (high evidence)
IQSEC2
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Intellectual developmental disorder, X-linked 1 MIM#309530
Tags
Green Green List (high evidence)
ITGA6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3)
Tags
Green Green List (high evidence)
ITGB4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3)
Tags
Green Green List (high evidence)
ITPR1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Gillespie syndrome, 206700 (3), Autosomal recessive
Tags
Green Green List (high evidence)
IVD
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Isovaleric acidemia, 243500 (3)
Tags
Green Green List (high evidence)
JAK3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)
Tags
Green Green List (high evidence)
KATNB1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lissencephaly 6, with microcephaly, 616212 (3)
Tags
Green Green List (high evidence)
KCNJ1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bartter syndrome, type 2, 241200 (3)
Tags
Green Green List (high evidence)
KCNJ11
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3)
Tags
Green Green List (high evidence)
KCNQ1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Jervell and Lange-Nielsen syndrome, 220400 (3)
Tags
Green Green List (high evidence)
KDM5C
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 (3)
Tags
Green Green List (high evidence)
KIF1A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spastic paraplegia 30, autosomal recessive, 610357 (3)
Tags
Green Green List (high evidence)
KIF7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hydrolethalus syndrome 2, 614120 (3)
Tags
Green Green List (high evidence)
KRT14
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epidermolysis bullosa simplex, recessive 1, 601001 (3)
Tags
Green Green List (high evidence)
L1CAM
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • MASA syndrome, 303350 (3)
Tags
Green Green List (high evidence)
L2HGDH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • L-2-hydroxyglutaric aciduria, 236792 (3)
Tags
Green Green List (high evidence)
LAMA2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy, congenital merosin-deficient, 607855 (3)
Tags
Green Green List (high evidence)
LAMA3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Tags
Green Green List (high evidence)
LAMB1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lissencephaly 5, 615191 (3)
Tags
Green Green List (high evidence)
LAMB2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pierson syndrome, 609049 (3)
Tags
Green Green List (high evidence)
LAMB3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Tags
Green Green List (high evidence)
LAMC2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Tags
Green Green List (high evidence)
LARGE1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3)
Tags
Green Green List (high evidence)
LARS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Infantile liver failure syndrome 1, MIM# 615438
Tags
Green Green List (high evidence)
LCA5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leber congenital amaurosis 5, 604537 (3)
Tags
Green Green List (high evidence)
LDLR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • LDL cholesterol level QTL2/Hypercholesterolemia, familial
Tags
Green Green List (high evidence)
LDLRAP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hypercholesterolemia, familial, autosomal recessive, 603813 (3)
Tags
Green Green List (high evidence)
LHX3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pituitary hormone deficiency, combined, 3, 221750 (3)
Tags
Green Green List (high evidence)
LIFR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)
Tags
Green Green List (high evidence)
LIG4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • LIG4 syndrome, 606593 (3)
Tags
Green Green List (high evidence)
LIPA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cholesteryl ester storage disease, 278000 (3)
Tags
Green Green List (high evidence)
LMBRD1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3)
Tags
Green Green List (high evidence)
LMNA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Restrictive dermopathy, lethal, 275210 (3)
Tags
Green Green List (high evidence)
LPL
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lipoprotein lipase deficiency, 238600 (3)
Tags
Green Green List (high evidence)
LRAT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leber congenital amaurosis 14, 613341 (3)
Tags
Green Green List (high evidence)
LRP2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Donnai-Barrow syndrome, 222448 (3)
Tags
Green Green List (high evidence)
LRPPRC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leigh syndrome, French-Canadian type, 220111 (3)
Tags
Green Green List (high evidence)
LYST
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Chediak-Higashi syndrome, 214500 (3)
Tags
Green Green List (high evidence)
LZTFL1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bardet-Biedl syndrome 17, 615994 (3)
Tags
Green Green List (high evidence)
MAN2B1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mannosidosis, alpha-, types I and II, 248500 (3)
Tags
Green Green List (high evidence)
MANBA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mannosidosis, beta, 248510 (3)
Tags
Green Green List (high evidence)
MASP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • 3MC syndrome 1, 257920 (3)
Tags
Green Green List (high evidence)
MCOLN1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mucolipidosis IV, 252650 (3)
Tags
Green Green List (high evidence)
MCPH1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly 1, primary, autosomal recessive, 251200 (3)
Tags
Green Green List (high evidence)
MECP2
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Encephalopathy, neonatal severe, 300673 (3)
Tags
Green Green List (high evidence)
MED12
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lujan-Fryns syndrome, 309520 (3)
Tags
Green Green List (high evidence)
MED17
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3)
Tags
Green Green List (high evidence)
MESP2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)
Tags
Green Green List (high evidence)
METTL23
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, autosomal recessive 44, 615942 (3)
Tags
Green Green List (high evidence)
MFN2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3), Autosomal recessive
Tags
Green Green List (high evidence)
MFSD8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 7, 610951 (3)
Tags
Green Green List (high evidence)
MID1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Opitz GBBB syndrome, type I, 300000 (3)
Tags
Green Green List (high evidence)
MKKS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • McKusick-Kaufman syndrome, 236700 (3)
Tags
Green Green List (high evidence)
MKS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Meckel syndrome 1, 249000 (3)
Tags
Green Green List (high evidence)
MLC1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3)
Tags
Green Green List (high evidence)
MLYCD
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Malonyl-CoA decarboxylase deficiency, 248360 (3)
Tags
Green Green List (high evidence)
MMAA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Methylmalonic aciduria, vitamin B12-responsive, 251100 (3)
Tags
Green Green List (high evidence)
MMAB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3)
Tags
Green Green List (high evidence)
MMACHC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3)
Tags
Green Green List (high evidence)
MMADHC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3)
Tags
Green Green List (high evidence)
MOCS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Molybdenum cofactor deficiency A, 252150 (3)
Tags
Green Green List (high evidence)
MOCS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Molybdenum cofactor deficiency B, 252160 (3)
Tags
Green Green List (high evidence)
MPI
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital disorder of glycosylation, type Ib, 602579 (3)
Tags
Green Green List (high evidence)
MPL
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Thrombocytopenia, congenital amegakaryocytic, 604498 (3)
Tags
Green Green List (high evidence)
MPV17
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3)
Tags
Green Green List (high evidence)
MRE11
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ataxia-telangiectasia-like disorder, 604391 (3)
Tags
Green Green List (high evidence)
MTFMT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Combined oxidative phosphorylation deficiency 15, 614947 (3)
Tags
Green Green List (high evidence)
MTHFR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Homocystinuria due to MTHFR deficiency, 236250 (3)
Tags
Green Green List (high evidence)
MTM1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myotubular myopathy, X-linked, 310400 (3)
Tags
Green Green List (high evidence)
MTMR2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Charcot-Marie-Tooth disease, type 4B1, 601382 (3)
Tags
Green Green List (high evidence)
MTR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3)
Tags
Green Green List (high evidence)
MTRR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3)
Tags
Green Green List (high evidence)
MTTP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Abetalipoproteinemia, 200100 (3)
Tags
Green Green List (high evidence)
MUSK
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3)
Tags
Green Green List (high evidence)
MUT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Methylmalonic aciduria, mut(0) type, 251000 (3)
Tags
Green Green List (high evidence)
MVK
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mevalonic aciduria, 610377 (3)
Tags
Green Green List (high evidence)
MYO5B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microvillus inclusion disease, 251850 (3)
Tags
Green Green List (high evidence)
MYO7A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Usher syndrome, type 1B, 276900 (3)
Tags
Green Green List (high evidence)
NAGA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Schindler disease, type I, 609241 (3)
Tags
Green Green List (high evidence)
NAGLU
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3)
Tags
Green Green List (high evidence)
NAGS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • N-acetylglutamate synthase deficiency, 237310 (3)
Tags
Green Green List (high evidence)
NALCN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies, 615419 (3)
Tags
Green Green List (high evidence)
NARS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Combined oxidative phosphorylation deficiency 24, 616239 (3)
Tags
Green Green List (high evidence)
NBN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nijmegen breakage syndrome, 251260 (3)
Tags
Green Green List (high evidence)
NCF2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3)
Tags
Green Green List (high evidence)
NDE1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lissencephaly 4 (with microcephaly), 614019 (3)
Tags
Green Green List (high evidence)
NDP
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Norrie disease, 310600 (3)
Tags
Green Green List (high evidence)
NDRG1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Charcot-Marie-Tooth disease, type 4D, 601455 (3)
Tags
Green Green List (high evidence)
NDUFAF2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leigh syndrome, 256000 (3)
Tags
Green Green List (high evidence)
NDUFAF5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex 1 deficiency, 252010 (3)
Tags
Green Green List (high evidence)
NDUFS4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leigh syndrome, 256000 (3)
Tags
Green Green List (high evidence)
NDUFS6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex I deficiency, 252010 (3)
Tags
Green Green List (high evidence)
NDUFS7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leigh syndrome, 256000 (3)
Tags
Green Green List (high evidence)
NDUFV1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex I deficiency, 252010 (3)
Tags
Green Green List (high evidence)
NEB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Arthrogryposis multiplex congenita 6 (MIM#619334)
  • Nemaline myopathy 2, autosomal recessive (MIM#256030)
Tags
Green Green List (high evidence)
NEU1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Sialidosis, type I, 256550 (3)
Tags
Green Green List (high evidence)
NGLY1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital disorder of deglycosylation, 615273 (3)
Tags
Green Green List (high evidence)
NNT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glucocorticoid deficiency 4, 614736 (3)
Tags
Green Green List (high evidence)
NPC1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Niemann-Pick disease, type C1, MIM#257220
Tags
Green Green List (high evidence)
NPC2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Niemann-pick disease, type C2, MIM#607625
Tags
Green Green List (high evidence)
NPHP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Joubert syndrome 4, 609583 (3)
Tags
Green Green List (high evidence)
NPHP3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Meckel syndrome 7, 267010 (3)
Tags
Green Green List (high evidence)
NPHS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nephrotic syndrome, type 1, 256300 (3)
Tags
Green Green List (high evidence)
NPHS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nephrotic syndrome, type 2, 600995 (3)
Tags
Green Green List (high evidence)
NR0B1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • 46XY sex reversal 2, dosage-sensitive, 300018 (3)
Tags
Green Green List (high evidence)
NTRK1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Insensitivity to pain, congenital, with anhidrosis, 256800 (3)
Tags
Green Green List (high evidence)
OCRL
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lowe syndrome, 309000 (3)
Tags
Green Green List (high evidence)
OFD1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Joubert syndrome 10, 300804 (3)
Tags
Green Green List (high evidence)
OPA1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Behr syndrome, 210000 (3), Autosomal recessive
Tags
Green Green List (high evidence)
OPA3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • 3-methylglutaconic aciduria, type III, 258501 (3)
Tags
Green Green List (high evidence)
OPHN1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3)
Tags
Green Green List (high evidence)
OSGEP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Galloway-Mowat syndrome 3, 617729 (3), Autosomal recessive
Tags
Green Green List (high evidence)
OSTM1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Osteopetrosis, autosomal recessive 5, 259720 (3)
Tags
Green Green List (high evidence)
OTC
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ornithine transcarbamylase deficiency, 311250 (3)
Tags
Green Green List (high evidence)
P3H1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Osteogenesis imperfecta, type VIII, 610915 (3)
Tags
Green Green List (high evidence)
PAH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Phenylketonuria, 261600 (3)
Tags
Green Green List (high evidence)
PAK3
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked 30/47, 300558 (3)
Tags
Green Green List (high evidence)
PANK2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neurodegeneration with brain iron accumulation 1, MIM#234200
Tags
Green Green List (high evidence)
PC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pyruvate carboxylase deficiency, 266150 (3)
Tags
Green Green List (high evidence)
PCCA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Propionicacidemia, 606054 (3)
Tags
Green Green List (high evidence)
PCCB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Propionicacidemia, 606054 (3)
Tags
Green Green List (high evidence)
PCDH15
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Usher syndrome, type 1F, 602083 (3)
Tags
Green Green List (high evidence)
PCDH19
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 9 (MIM#300088)
Tags
Green Green List (high evidence)
PCNT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3)
Tags
Green Green List (high evidence)
PDHA1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pyruvate dehydrogenase E1-alpha deficiency (MIM#312170)
Tags
Green Green List (high evidence)
PDHB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pyruvate dehydrogenase E1-beta deficiency, 614111 (3)
Tags
Green Green List (high evidence)
PEPD
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Prolidase deficiency, 170100 (3)
Tags
Green Green List (high evidence)
PET100
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex IV deficiency, 220110 (3)
Tags
Green Green List (high evidence)
PEX1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Peroxisome biogenesis disorder 1A (Zellweger), 214100
Tags
Green Green List (high evidence)
PEX10
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Peroxisome biogenesis disorder 6A (Zellweger), 614870
Tags
Green Green List (high evidence)
PEX12
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Peroxisome biogenesis disorder 3A (Zellweger), 614859
Tags
Green Green List (high evidence)
PEX13
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Peroxisome biogenesis disorder 11A (Zellweger), 614883
Tags
Green Green List (high evidence)
PEX16
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Peroxisome biogenesis disorder 8A, (Zellweger), 614876
Tags
Green Green List (high evidence)
PEX2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Peroxisome biogenesis disorder 5A (Zellweger), 614866
Tags
Green Green List (high evidence)
PEX26
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Peroxisome biogenesis disorder 7A (Zellweger), 614872
Tags
Green Green List (high evidence)
PEX5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Peroxisome biogenesis disorder 2A (Zellweger), 214110
Tags
Green Green List (high evidence)
PEX6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Peroxisome biogenesis disorder 4A (Zellweger), 614862
Tags
Green Green List (high evidence)
PEX7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Chondrodysplasia punctata, rhizomelic, type 1, 215100 (3)
Tags
Green Green List (high evidence)
PFKM
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glycogen storage disease VII, 232800 (3)
Tags
Green Green List (high evidence)
PGAP2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hyperphosphatasia with mental retardation syndrome 3, 614207 (3)
Tags
Green Green List (high evidence)
PGK1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Phosphoglycerate kinase 1 deficiency, 300653 (3)
Tags
Green Green List (high evidence)
PGM1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital disorder of glycosylation, type It, 614921 (3)
Tags
Green Green List (high evidence)
PGM3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 23, 615816 (3)
Tags
Green Green List (high evidence)
PHF8
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation syndrome, X-linked, Siderius type, 300263 (3)
Tags
Green Green List (high evidence)
PHGDH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neu-Laxova syndrome1, 256520 (3)
Tags
Green Green List (high evidence)
PHYH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Refsum disease, 266500 (3)
Tags
Green Green List (high evidence)
PIBF1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 33 (MIM#617767)
Tags
Green Green List (high evidence)
PIGG
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, autosomal recessive 53, 616917 (3)
Tags
Green Green List (high evidence)
PIGN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3)
Tags
Green Green List (high evidence)
PIGT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Multiple congenital anomalies-hypotonia-seizures syndrome 3
Tags
Green Green List (high evidence)
PKHD1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Polycystic kidney and hepatic disease, 263200 (3)
Tags
Green Green List (high evidence)
PLA2G6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neurodegeneration with brain iron accumulation 2B MIM#610217
  • Infantile neuroaxonal dystrophy 1 MIM#256600
Tags
Green Green List (high evidence)
PLOD1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ehlers-Danlos syndrome, type VI, 225400 (3)
Tags
Green Green List (high evidence)
PLP1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pelizaeus-Merzbacher disease, 312080 (3)
Tags
Green Green List (high evidence)
PLPBP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epilepsy, early-onset, vitamin B6-dependent, 617290 (3), Autosomal recessive
Tags
Green Green List (high evidence)
PMM2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital disorder of glycosylation, type Ia, 212065 (3)
Tags
Green Green List (high evidence)
PNKP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly, seizures, and developmental delay, 613402 (3)
Tags
Green Green List (high evidence)
PNPO
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3)
Tags
Green Green List (high evidence)
POLG
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3)
Tags
Green Green List (high evidence)
POLR1C
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Treacher Collins syndrome 3, 248390 (3)
Tags
Green Green List (high evidence)
POLR3B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3)
Tags
Green Green List (high evidence)
POMGNT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3)
Tags
Green Green List (high evidence)
POMT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3)
Tags
Green Green List (high evidence)
POMT2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3)
Tags
Green Green List (high evidence)
POR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3)
Tags
Green Green List (high evidence)
POU1F1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pituitary hormone deficiency, combined, 1, 613038 (3)
Tags
Green Green List (high evidence)
PPT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 1, 256730 (3)
Tags
Green Green List (high evidence)
PQBP1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Renpenning syndrome, 309500 (3)
Tags
Green Green List (high evidence)
PRDM5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Brittle cornea syndrome 2, 614170 (3)
Tags
Green Green List (high evidence)
PRF1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)
Tags
Green Green List (high evidence)
PROP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pituitary hormone deficiency, combined, 2, 262600 (3)
Tags
Green Green List (high evidence)
PRPS1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Arts syndrome, 301835 (3)
Tags
Green Green List (high evidence)
PSAP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3)
Tags
Green Green List (high evidence)
PTS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, A, 261640 (3)
Tags
Green Green List (high evidence)
PUS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3)
Tags
Green Green List (high evidence)
QDPR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, C, 261630 (3)
Tags
Green Green List (high evidence)
RAB18
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Warburg micro syndrome 3, 614222 (3)
Tags
Green Green List (high evidence)
RAB23
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Carpenter syndrome, 201000 (3)
Tags
Green Green List (high evidence)
RAB3GAP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Warburg micro syndrome 1, 600118 (3)
Tags
Green Green List (high evidence)
RAB3GAP2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Warburg micro syndrome 2, 614225 (3)
Tags
Green Green List (high evidence)
RAG1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Severe combined immunodeficiency, B cell-negative, 601457 (3)
Tags
Green Green List (high evidence)
RAG2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Severe combined immunodeficiency, B cell-negative, 601457 (3)
Tags
Green Green List (high evidence)
RAPSN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Fetal akinesia deformation sequence, 208150 (3)
Tags
Green Green List (high evidence)
RARS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pontocerebellar hypoplasia, type 6, 611523 (3)
Tags
Green Green List (high evidence)
RAX
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microphthalmia, isolated 3, 611038 (3)
Tags
Green Green List (high evidence)
RBBP8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Seckel syndrome 2, 606744 (3)
Tags
Green Green List (high evidence)
RDH12
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leber congenital amaurosis 13, 612712 (3)
Tags
Green Green List (high evidence)
RMND1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Combined oxidative phosphorylation deficiency 11, 614922 (3)
Tags
Green Green List (high evidence)
RMRP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cartilage-hair hypoplasia, 250250 (3)
Tags
Green Green List (high evidence)
RNASEH2A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Aicardi-Goutieres syndrome 4, 610333 (3)
Tags
Green Green List (high evidence)
RNASEH2B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Aicardi-Goutieres syndrome 2, 610181 (3)
Tags
Green Green List (high evidence)
RNASEH2C
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Aicardi-Goutieres syndrome 3, 610329 (3)
Tags
Green Green List (high evidence)
RP2
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Retinitis pigmentosa 2, 312600 (3)
Tags
Green Green List (high evidence)
RPE65
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leber congenital amaurosis 2, 204100 (3)
Tags
Green Green List (high evidence)
RPGRIP1L
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Meckel syndrome 5, 611561 (3)
Tags
Green Green List (high evidence)
RPS6KA3
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Coffin-Lowry syndrome
Tags
Green Green List (high evidence)
RTEL1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 5, 615190 (3)
Tags
Green Green List (high evidence)
RYR1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Central core disease, MIM# 117000
  • Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000
Tags
Green Green List (high evidence)
SACS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spastic ataxia, Charlevoix-Saguenay type, 270550 (3)
Tags
Green Green List (high evidence)
SAMHD1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Aicardi-Goutieres syndrome 5, 612952 (3)
Tags
Green Green List (high evidence)
SC5D
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lathosterolosis, 607330 (3)
Tags
Green Green List (high evidence)
SCO2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3)
Tags
Green Green List (high evidence)
SDCCAG8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bardet-Biedl syndrome 16, 615993 (3)
Tags
Green Green List (high evidence)
SEC23B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Dyserythropoietic anemia, congenital, type II, 224100 (3)
Tags
Green Green List (high evidence)
SEPSECS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pontocerebellar hypoplasia type 2D, 613811 (3)
Tags
Green Green List (high evidence)
SERAC1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3)
Tags
Green Green List (high evidence)
SERPINH1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Orofaciodigital syndrome VI, 277170 (3)
Tags
Green Green List (high evidence)
SGCA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2D, 608099 (3)
Tags
Green Green List (high evidence)
SGCB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2E, 604286 (3)
Tags
Green Green List (high evidence)
SGCD
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2F, 601287 (3)
Tags
Green Green List (high evidence)
SGCG
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2C, 253700 (3)
Tags
Green Green List (high evidence)
SGSH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mucopolysaccharidisis type IIIA (Sanfilippo A), 252900 (3)
Tags
Green Green List (high evidence)
SH3TC2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Charcot-Marie-Tooth disease, type 4C, 601596 (3)
Tags
Green Green List (high evidence)
SKIV2L
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Trichohepatoenteric syndrome 2, 614602 (3)
Tags
Green Green List (high evidence)
SLC12A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bartter syndrome, type 1, 601678 (3)
Tags
Green Green List (high evidence)
SLC12A6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
Tags
Green Green List (high evidence)
SLC16A2
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Allan-Herndon-Dudley syndrome
Tags
Green Green List (high evidence)
SLC17A5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Sialic acid storage disorder, infantile, 269920 (3)
Tags
Green Green List (high evidence)
SLC19A2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Thiamine-responsive megaloblastic anemia syndrome, 249270 (3)
Tags
Green Green List (high evidence)
SLC19A3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3)
Tags
Green Green List (high evidence)
SLC1A4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 (3)
Tags
Green Green List (high evidence)
SLC22A5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Carnitine deficiency, systemic primary, 212140 (3)
Tags
Green Green List (high evidence)
SLC25A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3)
Tags
Green Green List (high evidence)
SLC25A13
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Citrullinemia, type II, neonatal-onset, 605814 (3)
Tags
Green Green List (high evidence)
SLC25A15
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3)
Tags
Green Green List (high evidence)
SLC26A2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Achondrogenesis Ib, 600972 (3)
Tags
Green Green List (high evidence)
SLC26A3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Diarrhea 1, secretory chloride, congenital, 214700 (3)
Tags
Green Green List (high evidence)
SLC35A3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Arthrogryposis, mental retardation, and seizures (MIM615553)
Tags
Green Green List (high evidence)
SLC37A4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glycogen storage disease Ib, 232220 (3)
Tags
Green Green List (high evidence)
SLC38A8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3)
Tags
Green Green List (high evidence)
SLC39A4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Acrodermatitis enteropathica, 201100 (3)
Tags
Green Green List (high evidence)
SLC45A2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Albinism, oculocutaneous, type IV, 606574 (3)
Tags
Green Green List (high evidence)
SLC46A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Folate malabsorption, hereditary, 229050 (3)
Tags
Green Green List (high evidence)
SLC52A2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Brown-Vialetto-Van Laere syndrome 2, 614707 (3)
Tags
Green Green List (high evidence)
SLC52A3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Brown-Vialetto-Van Laere syndrome 1, 211530 (3)
Tags
Green Green List (high evidence)
SLC6A5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hyperekplexia 3, 614618 (3)
Tags
Green Green List (high evidence)
SLC6A8
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cerebral creatine deficiency syndrome 1, 300352 (3)
Tags
Green Green List (high evidence)
SLC7A7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lysinuric protein intolerance, 222700 (3)
Tags
Green Green List (high evidence)
SMARCAL1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Schimke immunoosseous dysplasia, 242900 (3)
Tags
Green Green List (high evidence)
SMN1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spinal muscular atrophy-1, 253300 (3)
Tags
Green Green List (high evidence)
SMPD1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Niemann-Pick disease, type A, 257200 (3)
Tags
Green Green List (high evidence)
SNAP29
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3)
Tags
Green Green List (high evidence)
SPATA5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epilepsy, hearing loss, and mental retardation syndrome, 616577 (3), Autosomal recessive
Tags
Green Green List (high evidence)
SPG11
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spastic paraplegia 11, autosomal recessive, MIM# 604360
Tags
Green Green List (high evidence)
SPINK5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Netherton syndrome, 256500 (3)
Tags
Green Green List (high evidence)
SPR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3)
Tags
Green Green List (high evidence)
ST3GAL5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Salt and pepper developmental regression syndrome, 609056 (3), Autosomal recessive
Tags
Green Green List (high evidence)
STAR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lipoid adrenal hyperplasia, 201710 (3)
Tags
Green Green List (high evidence)
STX11
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3)
Tags
Green Green List (high evidence)
STXBP2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3)
Tags
Green Green List (high evidence)
SUMF1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Multiple sulfatase deficiency, 272200 (3)
Tags
Green Green List (high evidence)
SUOX
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Sulfite oxidase deficiency, 272300 (3)
Tags
Green Green List (high evidence)
SURF1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leigh syndrome, due to COX deficiency, 256000 (3)
Tags
Green Green List (high evidence)
SYN1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3)
Tags
Green Green List (high evidence)
TANGO2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
Tags
Green Green List (high evidence)
TAT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Tyrosinemia, type II (MIM#276600)
Tags
Green Green List (high evidence)
TAZ
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Barth syndrome, 302060 (3)
Tags
Green Green List (high evidence)
TBC1D23
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pontocerebellar hypoplasia, type 11, 617695 (3), Autosomal recessive
Tags
Green Green List (high evidence)
TBC1D24
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epileptic encephalopathy, early infantile, 16, 615338 (3)
Tags
Green Green List (high evidence)
TBCD
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3), Autosomal recessive
Tags
Green Green List (high evidence)
TBCE
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Kenny-Caffey syndrome-1, 244460 (3)
Tags
Green Green List (high evidence)
TCIRG1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Osteopetrosis, autosomal recessive 1, 259700 (3)
Tags
Green Green List (high evidence)
TCN2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Transcobalamin II deficiency, 275350 (3)
Tags
Green Green List (high evidence)
TCTN2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Joubert syndrome 24
Tags
Green Green List (high evidence)
TCTN3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Joubert syndrome 18, 614815 (3)
Tags
Green Green List (high evidence)
TECPR2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, MIM#615031
Tags
Green Green List (high evidence)
TELO2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • You-Hoover-Fong syndrome, 616954 (3), Autosomal recessive
Tags
Green Green List (high evidence)
TF
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Atransferrinemia, 209300 (3)
Tags
Green Green List (high evidence)
TGM1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 1, 242300 (3)
Tags
Green Green List (high evidence)
TH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Segawa syndrome, recessive, MIM# 605407
Tags
Green Green List (high evidence)
THOC2
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked 12/35, 300957 (3), X-linked recessive
Tags
Green Green List (high evidence)
TK2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3)
Tags
Green Green List (high evidence)
TMEM138
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Joubert syndrome 16, 614465 (3)
Tags
Green Green List (high evidence)
TMEM216
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Joubert syndrome 2, 608091 (3)
Tags
Green Green List (high evidence)
TMEM231
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Joubert syndrome 20, 614970 (3)
Tags
Green Green List (high evidence)
TMEM237
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Joubert syndrome 14, 614424 (3)
Tags
Green Green List (high evidence)
TMEM67
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Joubert syndrome 6, 610688 (3)
Tags
Green Green List (high evidence)
TMTC3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lissencephaly 8, 617255 (3), Autosomal recessive
Tags
Green Green List (high evidence)
TOE1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pontocerebellar hypoplasia, type 7, 614969 (3), Autosomal recessive
Tags
Green Green List (high evidence)
TPP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 2, 204500 (3)
Tags
Green Green List (high evidence)
TRDN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3)
Tags
Green Green List (high evidence)
TREX1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3)
Tags
Green Green List (high evidence)
TRIM32
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2H, 254110 (3)
Tags
Green Green List (high evidence)
TRIM37
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mulibrey nanism, 253250 (3)
Tags
Green Green List (high evidence)
TRMU
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Liver failure, transient infantile, 613070 (3)
Tags
Green Green List (high evidence)
TRPM6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hypomagnesemia 1, intestinal, 602014 (3)
Tags
Green Green List (high evidence)
TSEN2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pontocerebellar hypoplasia type 2B, 612389 (3)
Tags
Green Green List (high evidence)
TSEN54
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pontocerebellar hypoplasia type 2A, 277470 (3)
Tags
Green Green List (high evidence)
TSFM
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Combined oxidative phosphorylation deficiency 3, 610505 (3)
Tags
Green Green List (high evidence)
TSHB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hypothryoidism, congenital, nongoitrous 4, 275100 (3)
Tags
Green Green List (high evidence)
TTC37
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Trichohepatoenteric syndrome 1, 222470 (3)
Tags
Green Green List (high evidence)
TTC7A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Gastrointestinal defects and immunodeficiency syndrome, 243150 (3)
Tags
Green Green List (high evidence)
TTC8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bardet-Biedl syndrome 8, 615985 (3)
Tags
Green Green List (high evidence)
TTPA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ataxia with isolated vitamin E deficiency, 277460 (3)
Tags
Green Green List (high evidence)
TULP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Retinitis pigmentosa 14, 600132 (3)
Tags
Green Green List (high evidence)
TWNK
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3)
Tags
Green Green List (high evidence)
TYMP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)
Tags
Green Green List (high evidence)
TYR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Albinism, oculocutaneous, type IA, 203100 (3)
Tags
Green Green List (high evidence)
TYRP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Albinism, oculocutaneous, type III, 203290 (3)
Tags
Green Green List (high evidence)
UBA5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epileptic encephalopathy, early infantile, 44, 617132 (3), Autosomal recessive
Tags
Green Green List (high evidence)
UBE2T
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Fanconi anemia, complementation group T, 616435 (3)
Tags
Green Green List (high evidence)
UBR1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Johanson-Blizzard syndrome, 243800 (3)
Tags
Green Green List (high evidence)
UGT1A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Crigler-Najjar syndrome, type I, 218800 (3)
Tags
Green Green List (high evidence)
UNC13D
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)
Tags
Green Green List (high evidence)
UPF3B
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked, syndromic 14, 300676 (3)
Tags
Green Green List (high evidence)
USH1C
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Usher syndrome, type 1C, 276904 (3)
Tags
Green Green List (high evidence)
USH1G
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Usher syndrome, type 1G, 606943 (3)
Tags
Green Green List (high evidence)
USH2A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Usher syndrome, type 2A, 276901 (3)
Tags
Green Green List (high evidence)
USP9X
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked 99, 300919 (3)
Tags
Green Green List (high evidence)
VLDLR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3)
Tags
Green Green List (high evidence)
VPS11
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukodystrophy, hypomyelinating, 12, 616683 (3), Autosomal recessive
Tags
Green Green List (high evidence)
VPS13B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cohen syndrome, 216550 (3)
Tags
Green Green List (high evidence)
VPS45
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3)
Tags
Green Green List (high evidence)
VPS53
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pontocerebellar hypoplasia, type 2E, 615851 (3)
Tags
Green Green List (high evidence)
VRK1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pontocerebellar hypoplasia type 1A, 607596 (3)
Tags
Green Green List (high evidence)
VSX2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microphthalmia with coloboma 3, 610092 (3)
Tags
Green Green List (high evidence)
WAS
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Wiskott-Aldrich syndrome, 301000 (3)
Tags
Green Green List (high evidence)
WDR34
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3)
Tags
Green Green List (high evidence)
WDR62
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3)
Tags
Green Green List (high evidence)
WDR81
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)
Tags
Green Green List (high evidence)
WHRN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Usher syndrome, type 2D, 611383 (3)
Tags
Green Green List (high evidence)
WISP3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3)
Tags
Green Green List (high evidence)
WRN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Werner syndrome, 277700 (3)
Tags
Green Green List (high evidence)
WWOX
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epileptic encephalopathy, early infantile, 28, 616211 (3)
Tags
Green Green List (high evidence)
XIAP
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lymphoproliferative syndrome, X-linked, 2, 300635 (3)
Tags
Green Green List (high evidence)
XPA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Xeroderma pigmentosum, group A, 278700 (3)
Tags
Green Green List (high evidence)
XPC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Xeroderma pigmentosum, group C, 278720 (3)
Tags
Green Green List (high evidence)
YARS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3)
Tags
Green Green List (high evidence)
ZBTB24
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency-centromeric instability-facial anomalies syndrome-2, 614069 (3)
Tags
Green Green List (high evidence)
ZDHHC9
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked syndromic, Raymond type, 300799 (3)
Tags
Green Green List (high evidence)
ZFYVE26
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spastic paraplegia 15, autosomal recessive, 270700 (3)
Tags
Green Green List (high evidence)
ZNF711
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked 97, 300803 (3)
Tags

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