PanelApp
  1. Panels
  2. Mackenzie's Mission_Reproductive Carrier Screening
Description
This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.

Criteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).

The panel is managed by Mackenzie's Mission.
Panel Activity

8 reviewers

  • Alison Yeung (Victorian Clinical Genetics Services)

  • Sarah Righetti (University of New South Wales)

  • Edwin Kirk (New South Wales Health Pathology Randwick)

  • Teresa Zhao (Victorian Clinical Genetics Services)

  • Crystle Lee (Victorian Clinical Genetics Services)

  • Seb Lunke (Victorian Clinical Genetics Services)

  • Santosh Varughese (University of Melbourne)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

1333 Entities

111 reviewed, 1283 green

List Entity Reviews Mode of inheritance Details
1333 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)
ABAT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • GABA-transaminase deficiency, 613163 (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)
ABCB7
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Anemia, sideroblastic, with ataxia, 301310 (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)
ABHD5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Chanarin-Dorfman syndrome, 275630 (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
1 review
1 green 		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)
ACE
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Renal tubular dysgenesis, 267430 (3)
Tags
Green Green List (high evidence)
ACO2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Infantile cerebellar-retinal degeneration, 614559 (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)
ACTA1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myopathy, congenital, with fiber-type disproportion 1, 255310 (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)
ADA2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Polyarteritis nodosa, childhood-onset, 615688 (3)
Tags
Green Green List (high evidence)
ADAMTS13
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Thrombotic thrombocytopenic purpura, familial, 274150 (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)
ADAMTSL2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Geleophysic dysplasia 1, 231050 (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)
ADAT3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, autosomal recessive 36, 615286 (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)
AGBL5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Retinitis pigmentosa 75, 617023 (3), Autosomal recessive
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)
AGRN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3)
Tags
Green Green List (high evidence)
AGT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Renal tubular dysgenesis, 267430 (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)
AIMP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukodystrophy, hypomyelinating, 3, 260600 (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)
AKR1D1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bile acid synthesis defect, congenital, 2, 235555 (3)
Tags
Green Green List (high evidence)
ALAD
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Porphyria, acute hepatic, 612740 (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)
ALDH1A3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microphthalmia, isolated 8, 615113 (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)
ALG11
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital disorder of glycosylation, type Ip, 613661 (3)
Tags
Green Green List (high evidence)
ALG12
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital disorder of glycosylation, type Ig, 607143 (3)
Tags
Green Green List (high evidence)
ALG2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 (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)
ALG8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital disorder of glycosylation, type Ih, 608104 (3)
Tags
Green Green List (high evidence)
ALG9
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital disorder of glycosylation, type Il, 608776 (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)
ALOX12B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 2, 242100 (3)
Tags
Green Green List (high evidence)
ALOXE3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 3, 606545 (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)
ALS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Primary lateral sclerosis, juvenile, 606353 (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)
ANKS6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nephronophthisis 16, 615382 (3)
Tags
Green Green List (high evidence)
ANTXR1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • GAPO syndrome, 230740 (3)
Tags
Green Green List (high evidence)
ANTXR2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hyaline fibromatosis syndrome, 228600 (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)
AP3B2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epileptic encephalopathy, early infantile, 48, 617276 (3), Autosomal recessive
Tags
Green Green List (high evidence)
AP4B1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spastic paraplegia 47, autosomal recessive, 614066 (3)
Tags
Green Green List (high evidence)
AP4M1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spastic paraplegia 50, autosomal recessive, 612936 (3)
Tags
Green Green List (high evidence)
AP4S1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spastic paraplegia 52, autosomal recessive, 614067 (3)
Tags
Green Green List (high evidence)
APOPT1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex IV deficiency, 220110 (3)
Tags
  • new gene name
Green Green List (high evidence)
APTX
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 (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)
ARFGEF2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Periventricular heterotopia with microcephaly, 608097 (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)
ARHGEF9
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epileptic encephalopathy, early infantile, 8, 300607 (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)
ARMC4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 23, 615451 (3)
Tags
Green Green List (high evidence)
ARPC1B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 (3), Autosomal recessive
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)
ARV1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epileptic encephalopathy, early infantile, 38, 617020 (3), Autosomal recessive
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)
ASAH1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Farber lipogranulomatosis, 228000 (3)
Tags
Green Green List (high evidence)
ASCC1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spinal muscular atrophy with congenital bone fractures 2, MIM#616867
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)
ATAD1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hyperekplexia 4, 618011 (3), Autosomal recessive
Tags
Green Green List (high evidence)
ATCAY
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ataxia, cerebellar, Cayman type, 601238 (3)
Tags
Green Green List (high evidence)
ATF6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Achromatopsia 7, 616517 (3), Autosomal recessive
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)
ATOH7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Persistent hyperplastic primary vitreous, autosomal recessive, 221900 (3)
Tags
Green Green List (high evidence)
ATP13A2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spastic paraplegia 78, autosomal recessive, 617225 (3)
Tags
Green Green List (high evidence)
ATP6AP1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 47, 300972 (3), X-linked recessive
Tags
Green Green List (high evidence)
ATP6V0A2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cutis laxa, autosomal recessive, type IIA, 219200 (3)
Tags
Green Green List (high evidence)
ATP6V0A4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Renal tubular acidosis, distal, autosomal recessive, 602722 (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)
ATP8A2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4
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
  • ATR-X-related syndrome MONDO:0016980
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)
B3GALNT2
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, 11, 615181 (3)
Tags
Green Green List (high evidence)
B3GALT6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 (3)
Tags
Green Green List (high evidence)
B3GAT3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600 (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)
B4GALNT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spastic paraplegia 26, autosomal recessive, 609195 (3)
Tags
Green Green List (high evidence)
B4GALT7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ehlers-Danlos syndrome, progeroid type, 1, 130070 (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)
BCKDK
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Branched-chain ketoacid dehydrogenase kinase deficiency, 614923 (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)
BGN
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Meester-Loeys syndrome, 300989 (3), X-linked
Tags
Green Green List (high evidence)
BIN1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myopathy, centronuclear, autosomal recessive, 255200 (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)
BMPER
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Diaphanospondylodysostosis, 608022 (3)
Tags
Green Green List (high evidence)
BMPR1B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Acromesomelic dysplasia, Demirhan type, 609441 (3), Autosomal recessive
Tags
Green Green List (high evidence)
BOLA3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 2, 614299 (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)
BRF1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cerebellofaciodental syndrome, 616202 (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)
BSCL2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Encephalopathy, progressive, with or without lipodystrophy, 615924 (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)
BUB1B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mosaic variegated aneuploidy syndrome 1, 257300 (3)
Tags
Green Green List (high evidence)
C12orf57
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Temtamy syndrome, 218340 (3)
Tags
Green Green List (high evidence)
C12orf65
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Combined oxidative phosphorylation deficiency 7, 613559 (3)
Tags
Green Green List (high evidence)
C19orf12
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neurodegeneration with brain iron accumulation 4, 614298 (3)
Tags
Green Green List (high evidence)
C1QA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • C1q deficiency, 613652 (3)
Tags
Green Green List (high evidence)
C1QB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • C1q deficiency, 613652 (3)
Tags
Green Green List (high evidence)
C1QC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • C1q deficiency, 613652 (3)
Tags
Green Green List (high evidence)
C21orf2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Retinal dystrophy with macular staphyloma, 617547 (3), Autosomal recessive
Tags
  • new gene name
Green Green List (high evidence)
C2CD3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Orofaciodigital syndrome XIV
Tags
Green Green List (high evidence)
C3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • C3 deficiency, 613779 (3)
Tags
Green Green List (high evidence)
C5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • C5 deficiency, 609536 (3)
Tags
Green Green List (high evidence)
C5orf42
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Joubert syndrome 17, 614615 (3)
Tags
  • new gene name
Green Green List (high evidence)
C6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • C6 deficiency, 612446 (3)
Tags
Green Green List (high evidence)
C7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • C7 deficiency, 610102 (3)
Tags
Green Green List (high evidence)
C8B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • C8 deficiency, type II, 613789 (3)
Tags
Green Green List (high evidence)
C8orf37
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cone-rod dystrophy 16, 614500 (3)
Tags
Green Green List (high evidence)
CA2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3)
Tags
Green Green List (high evidence)
CABP4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cone-rod synaptic disorder, congenital nonprogressive, 610427 (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)
CARD11
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 11, 615206 (3)
Tags
Green Green List (high evidence)
CARD9
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Candidiasis, familial, 2, autosomal recessive, 212050 (3)
Tags
Green Green List (high evidence)
CARS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Combined oxidative phosphorylation deficiency 27, 616672 (3), Autosomal recessive
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)
CASR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hyperparathyroidism, neonatal, 239200 (3)
Tags
Green Green List (high evidence)
CAVIN1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lipodystrophy, congenital generalized, type 4, 613327 (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)
CCDC114
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 20, 615067 (3)
Tags
Green Green List (high evidence)
CCDC115
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital disorder of glycosylation, type IIo, 616828 (3), Autosomal recessive
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)
CCDC40
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 15, 613808 (3)
Tags
Green Green List (high evidence)
CCDC8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • 3-M syndrome 3, 614205 (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)
CCNO
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary diskinesia, primary, 29, 615872 (3)
Tags
Green Green List (high evidence)
CD27
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lymphoproliferative syndrome 2, 615122 (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)
CD55
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, 226300 (3), Autosomal recessive
Tags
Green Green List (high evidence)
CDC45
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Meier-Gorlin syndrome 7, 617063 (3), Autosomal recessive
Tags
Green Green List (high evidence)
CDH11
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Elsahy-Waters syndrome, 211380 (3), Autosomal recessive
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)
CDH3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (3)
Tags
Green Green List (high evidence)
CDK10
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Al Kaissi syndrome, 617694 (3), Autosomal recessive
Tags
Green Green List (high evidence)
CDK5RAP2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly 3, primary, autosomal recessive, 604804 (3)
Tags
Green Green List (high evidence)
CDT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Meier-Gorlin syndrome 4, 613804 (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)
CEP120
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 (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)
CEP78
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cone-rod dystrophy and hearing loss, 617236 (3), Autosomal recessive
Tags
Green Green List (high evidence)
CERS3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 9, 615023 (3)
Tags
Green Green List (high evidence)
CFD
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Complement factor D deficiency, 613912 (3)
Tags
Green Green List (high evidence)
CFH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Complement factor H deficiency, 609814 (3)
Tags
Green Green List (high evidence)
CFI
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Complement factor I deficiency, 610984 (3)
Tags
Green Green List (high evidence)
CFL2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nemaline myopathy 7, autosomal recessive, 610687 (3)
Tags
Green Green List (high evidence)
CFP
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Properdin deficiency, X-linked, 312060 (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)
CHKB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy, congenital, megaconial type, 602541 (3)
Tags
Green Green List (high evidence)
CHM
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Choroideremia
Tags
Green Green List (high evidence)
CHRNA1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Multiple pterygium syndrome, lethal type, 253290 (3)
Tags
Green Green List (high evidence)
CHRND
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myasthenic syndrome, congenital, 3B, fast-channel, 616322 (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)
CHST14
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ehlers-Danlos syndrome, musculocontractural type 1, 601776 (3)
Tags
Green Green List (high evidence)
CHST3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3)
Tags
Green Green List (high evidence)
CHSY1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Temtamy preaxial brachydactyly syndrome, 605282 (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)
CISD2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Wolfram syndrome 2, 604928 (3)
Tags
Green Green List (high evidence)
CIT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly 17, primary, autosomal recessive, 617090 (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)
CLCF1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cold-induced sweating syndrome 2, 610313 (3)
Tags
Green Green List (high evidence)
CLCN2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukoencephalopathy with ataxia, 615651 (3)
Tags
Green Green List (high evidence)
CLCN4
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Raynaud-Claes syndrome, MIM #300114
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)
CLCNKB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bartter syndrome, type 4b, digenic, 613090 (3)
Tags
Green Green List (high evidence)
CLDN1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3)
Tags
Green Green List (high evidence)
CLDN10
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • HELIX syndrome, 617671 (3), Autosomal recessive
Tags
Green Green List (high evidence)
CLDN19
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hypomagnesemia 5, renal, with ocular involvement, 248190 (3)
Tags
Green Green List (high evidence)
CLMP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital short bowel syndrome, 615237 (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)
CLPP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Perrault syndrome 3, 614129 (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)
CNGA3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Achromatopsia-2, 216900 (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)
CNNM4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Jalili syndrome, 217080 (3)
Tags
Green Green List (high evidence)
CNTNAP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lethal congenital contracture syndrome 7, 616286 (3)
Tags
Green Green List (high evidence)
CNTNAP2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cortical dysplasia-focal epilepsy syndrome, 610042 (3)
Tags
Green Green List (high evidence)
COG6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital disorder of glycosylation, type IIl, 614576 (3)
Tags
Green Green List (high evidence)
COG7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital disorder of glycosylation, type IIe, 608779 (3)
Tags
Green Green List (high evidence)
COL11A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Fibrochondrogenesis 1, 228520 (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
1 review
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review 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)
COL6A2
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)
COL6A3
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)
COQ2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Coenzyme Q10 deficiency, primary, 1, 607426 (3)
Tags
Green Green List (high evidence)
COQ4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Coenzyme Q10 deficiency, primary, 7, 616276 (3)
Tags
Green Green List (high evidence)
COQ6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Coenzyme Q10 deficiency, primary, 6, 614650 (3)
Tags
Green Green List (high evidence)
COQ8A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Coenzyme Q10 deficiency, primary, 4, 612016 (3)
Tags
Green Green List (high evidence)
COQ8B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nephrotic syndrome, type 9, 615573 (3)
Tags
Green Green List (high evidence)
COX10
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leigh syndrome due to mitochondrial COX4 deficiency, 256000 (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)
COX20
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)
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)
CRB2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ventriculomegaly with cystic kidney disease, 219730 (3)
Tags
Green Green List (high evidence)
CRLF1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cold-induced sweating syndrome 1, 272430 (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)
CSTB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 (3)
Tags
  • 5'UTR
  • STR
Green Green List (high evidence)
CTC1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cerebroretinal microangiopathy with calcifications and cysts, 612199 (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)
CTPS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 24, 615897 (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)
CTSF
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 (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)
CUL7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • 3-M syndrome 1, 273750 (3)
Tags
Green Green List (high evidence)
CWC27
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Retinitis pigmentosa with or without skeletal anomalies, 250410 (3), Autosomal recessive
Tags
Green Green List (high evidence)
CYB5R3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Methemoglobinemia, type I, 250800 (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)
CYP2U1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spastic paraplegia 56, autosomal recessive, 615030 (3)
Tags
Green Green List (high evidence)
CYP4F22
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 5, 604777 (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)
DARS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 (3)
Tags
  • new gene name
Green Green List (high evidence)
DARS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (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)
DCDC2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nephronophthisis 19, 616217 (3)
Tags
Green Green List (high evidence)
DCHS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Van Maldergem syndrome 1, 601390 (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)
DDHD2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spastic paraplegia 54, autosomal recessive, 615033 (3)
Tags
Green Green List (high evidence)
DDR2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (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)
DDX59
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Orofaciodigital syndrome V, 174300 (3)
Tags
Green Green List (high evidence)
DENND5A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epileptic encephalopathy, early infantile, 49, 617281 (3), Autosomal recessive
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)
DGKE
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nephrotic syndrome, type 7, 615008 (3)
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)
DHODH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Miller syndrome, 263750 (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)
DNAAF1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 13, 613193 (3)
Tags
Green Green List (high evidence)
DNAAF3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 2, 606763 (3)
Tags
Green Green List (high evidence)
DNAAF4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 25, 615482 (3)
Tags
Green Green List (high evidence)
DNAAF5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 18, 614874 (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)
DNAJC12
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 (3), Autosomal recessive
Tags
Green Green List (high evidence)
DNAJC19
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • 3-methylglutaconic aciduria, type V, 610198 (3)
Tags
Green Green List (high evidence)
DNAJC21
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bone marrow failure syndrome 3, 617052 (3), Autosomal recessive
Tags
Green Green List (high evidence)
DNAJC6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Parkinson disease 19, juvenile-onset, 615528 (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)
DOCK2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 40, 616433 (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)
DOCK8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (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)
DOLK
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital disorder of glycosylation, type Im, 610768 (3)
Tags
Green Green List (high evidence)
DONSON
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly, short stature, and limb abnormalities, 617604 (3), Autosomal recessive
Tags
Green Green List (high evidence)
DPAGT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 (3)
Tags
Green Green List (high evidence)
DPH1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Developmental delay with short stature, dysmorphic features, and sparse hair, 616901 (3), Autosomal recessive
Tags
Green Green List (high evidence)
DSP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3)
Tags
Green Green List (high evidence)
DSTYK
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spastic paraplegia 23, 270750 (3), Autosomal recessive
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)
DYNC2LI1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Short-rib thoracic dysplasia 15 with polydactyly, 617088 (3), Autosomal recessive
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)
EARS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Combined oxidative phosphorylation deficiency 12, 614924 (3)
Tags
Green Green List (high evidence)
ECEL1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Arthrogryposis, distal, type 5D, 615065 (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
1 review
1 green 		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)
EDAR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3)
Tags
Green Green List (high evidence)
EFEMP2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cutis laxa, autosomal recessive, type IB, 614437 (3)
Tags
Green Green List (high evidence)
EFNB1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Craniofrontonasal dysplasia, 304110 (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)
EIF2AK4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pulmonary venoocclusive disease 2, 234810 (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)
EIF2S3
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • MEHMO syndrome, 300148 (3), X-linked recessive
Tags
Green Green List (high evidence)
ELAC2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Combined oxidative phosphorylation deficiency 17, 615440 (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)
ELP2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, autosomal recessive 58, 617270 (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)
EMG1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bowen-Conradi syndrome, 211180 (3)
Tags
Green Green List (high evidence)
EML1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Band heterotopia, 600348 (3), Autosomal recessive
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)
EOGT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Adams-Oliver syndrome 4, 615297 (3)
Tags
Green Green List (high evidence)
EPCAM
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Diarrhea 5, with tufting enteropathy, congenital, 613217 (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)
EPM2A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epilepsy, progressive myoclonic 2A (Lafora), 254780 (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)
ERCC6L2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bone marrow failure syndrome 2, 615715 (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)
EXTL3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 (3), Autosomal recessive
Tags
Green Green List (high evidence)
F2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Dysprothrombinemia, 613679 (3)
Tags
Green Green List (high evidence)
F5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Factor V deficiency, 227400 (3)
Tags
Green Green List (high evidence)
F7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Factor VII deficiency, 227500 (3)
Tags
Green Green List (high evidence)
F8
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hemophilia A, 306700 (3)
Tags
Green Green List (high evidence)
F9
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hemophilia B, 306900 (3)
Tags
Green Green List (high evidence)
FA2H
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spastic paraplegia 35, autosomal recessive, 612319 (3)
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)
FAM20C
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Raine syndrome, 259775 (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)
FARS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Combined oxidative phosphorylation deficiency 14, 614946 (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)
FBLN5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cutis laxa, autosomal recessive, type IA, 219100 (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)
FBXL4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 (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)
FERMT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Kindler syndrome, 173650 (3)
Tags
Green Green List (high evidence)
FERMT3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukocyte adhesion deficiency, type III, 612840 (3)
Tags
Green Green List (high evidence)
FGA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Afibrinogenemia, congenital, 202400 (3)
Tags
Green Green List (high evidence)
FGB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Afibrinogenemia, congenital, 202400 (3)
Tags
Green Green List (high evidence)
FGD4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Charcot-Marie-Tooth disease, type 4H, 609311 (3)
Tags
Green Green List (high evidence)
FGG
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Afibrinogenemia, congenital, 202400 (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)
FIG4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Yunis-Varon syndrome, 216340 (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)
FKBP14
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557 (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)
FLAD1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100 (3), Autosomal recessive
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)
FLNB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spondylocarpotarsal synostosis syndrome, 272460 (3)
Tags
Green Green List (high evidence)
FLVCR1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ataxia, posterior column, with retinitis pigmentosa, 609033 (3)
Tags
Green Green List (high evidence)
FLVCR2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, 225790 (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)
FOLR1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neurodegeneration due to cerebral folate transport deficiency, 613068 (3)
Tags
Green Green List (high evidence)
FOXE3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Aphakia, congenital primary, 610256 (3)
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)
FOXP3
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (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)
FREM1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bifid nose with or without anorectal and renal anomalies, 608980 (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)
FRRS1L
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epileptic encephalopathy, early infantile, 37, 616981 (3), Autosomal recessive
Tags
Green Green List (high evidence)
FTCD
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glutamate formiminotransferase deficiency, 229100 (3)
Tags
Green Green List (high evidence)
FTO
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Growth retardation, developmental delay, coarse facies, and early death, 612938 (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)
FYCO1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cataract 18, autosomal recessive, 610019 (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
2 reviews
1 green 		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)
GAN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Giant axonal neuropathy-1, 256850 (3)
Tags
Green Green List (high evidence)
GAS8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 33, 616726 (3), Autosomal recessive
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)
GBA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Gaucher disease, perinatal lethal, 608013 (3)
Tags
Green Green List (high evidence)
GBA2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spastic paraplegia 46, autosomal recessive, 614409 (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)
GDI1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked 41, 300849 (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)
GFPT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myasthenia, congenital, 12, with tubular aggregates, 610542 (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)
GJA1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hypoplastic left heart syndrome 1, 241550 (3)
Tags
Green Green List (high evidence)
GJC2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukodystrophy, hypomyelinating, 2, 608804 (3)
Tags
Green Green List (high evidence)
GK
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glycerol kinase deficiency, 307030 (3)
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, 301500 (3)
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)
GLDN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lethal congenital contracture syndrome 11, 617194 (3), Autosomal recessive
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)
GLIS3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3)
Tags
Green Green List (high evidence)
GLYCTK
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • D-glyceric aciduria, 220120 (3)
Tags
Green Green List (high evidence)
GM2A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • GM2-gangliosidosis, AB variant, 272750 (3)
Tags
Green Green List (high evidence)
GMPPA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Alacrima, achalasia, and mental retardation syndrome, 615510 (3)
Tags
Green Green List (high evidence)
GMPPB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 (3)
Tags
Green Green List (high evidence)
GNAT2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Achromatopsia-4, 613856 (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)
GOSR2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epilepsy, progressive myoclonic 6, 614018 (3)
Tags
Green Green List (high evidence)
GPAA1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glycosylphosphatidylinositol biosynthesis defect 15, 617810 (3), Autosomal recessive
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)
GPC6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Omodysplasia 1, 258315 (3)
Tags
Green Green List (high evidence)
GPHN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Molybdenum cofactor deficiency C, 615501 (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)
GPR179
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (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)
GPT2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, autosomal recessive 49, 616281 (3)
Tags
Green Green List (high evidence)
GRM1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 13, 614831 (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)
GTF2H5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Trichothiodystrophy 3, photosensitive, 616395 (3)
Tags
Green Green List (high evidence)
GTPBP3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Combined oxidative phosphorylation deficiency 23, 616198 (3)
Tags
Green Green List (high evidence)
GUCY1A3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Moyamoya 6 with achalasia, 615750 (3)
Tags
Green Green List (high evidence)
GUCY2C
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Meconium ileus, 614665 (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)
GYS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glycogen storage disease 0, liver, 240600 (3)
Tags
Green Green List (high evidence)
HACE1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spastic paraplegia and psychomotor retardation with or without seizures, 616756 (3), Autosomal recessive
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)
HEPACAM
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 (3)
Tags
Green Green List (high evidence)
HERC2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, autosomal recessive 38, 615516 (3)
Tags
Green Green List (high evidence)
HES7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spondylocostal dysostosis 4, autosomal recessive, 613686 (3)
Tags
Green Green List (high evidence)
HESX1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Septooptic dysplasia, 182230 (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
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hemochromatosis, type 2A, 602390 (3)
Tags
  • new gene name
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)
HINT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 (3)
Tags
Green Green List (high evidence)
HK1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neuropathy, hereditary motor and sensory, Russe type, 605285 (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)
HOXA1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Athabaskan brainstem dysgenesis syndrome, 601536 (3)
Tags
Green Green List (high evidence)
HPD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Tyrosinemia, type III, 276710 (3)
Tags
Green Green List (high evidence)
HPGD
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cranioosteoarthropathy, 259100 (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)
HPSE2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Urofacial syndrome 1, 236730 (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)
HSD3B7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bile acid synthesis defect, congenital, 1, 607765 (3)
Tags
Green Green List (high evidence)
HSPD1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukodystrophy, hypomyelinating, 4, 612233 (3)
Tags
Green Green List (high evidence)
HSPG2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Schwartz-Jampel syndrome, type 1, 255800 (3)
Tags
Green Green List (high evidence)
HTRA2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • 3-methylglutaconic aciduria, type VIII, 617248 (3), Autosomal recessive
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)
HYDIN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 5, 608647 (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)
IARS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093 (3), Autosomal recessive
Tags
Green Green List (high evidence)
IARS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
Tags
Green Green List (high evidence)
IBA57
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 3, 615330 (3), Autosomal recessive
Tags
Green Green List (high evidence)
ICOS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency, common variable, 1, 607594 (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)
IER3IP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome, 614231 (3)
Tags
Green Green List (high evidence)
IFNGR1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 27A, mycobacteriosis, AR, 209950 (3)
Tags
Green Green List (high evidence)
IFNGR2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 28, mycobacteriosis, 614889 (3)
Tags
Green Green List (high evidence)
IFT122
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cranioectodermal dysplasia 1, 218330 (3)
Tags
Green Green List (high evidence)
IFT140
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3)
Tags
Green Green List (high evidence)
IFT172
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 (3)
Tags
Green Green List (high evidence)
IFT80
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 (3)
Tags
Green Green List (high evidence)
IGF1R
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Insulin-like growth factor I, resistance to, 270450 (3)
Tags
Green Green List (high evidence)
IGFBP7
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, 614224 (3)
Tags
Green Green List (high evidence)
IGHM
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Agammaglobulinemia 1, 601495 (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)
IKBKG
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 (3)
Tags
Green Green List (high evidence)
IL10RA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 (3)
Tags
Green Green List (high evidence)
IL10RB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Inflammatory bowel disease 25, early onset, #MIM612657
Tags
Green Green List (high evidence)
IL11RA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Craniosynostosis and dental anomalies, 614188 (3)
Tags
Green Green List (high evidence)
IL12RB1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 30, 614891 (3)
Tags
Green Green List (high evidence)
IL17RA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 51, 613953 (3), Autosomal recessive
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)
IL1RN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Interleukin 1 receptor antagonist deficiency, 612852 (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)
INPP5K
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 (3), Autosomal recessive
Tags
Green Green List (high evidence)
INPPL1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Opsismodysplasia, 258480 (3)
Tags
Green Green List (high evidence)
INSR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leprechaunism, 246200 (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)
IQCB1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Senior-Loken syndrome 5, 609254 (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
  • Mental retardation, X-linked 1, 309530 (3)
Tags
Green Green List (high evidence)
ISCA2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 4, 616370 (3)
Tags
Green Green List (high evidence)
ISPD
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 (3)
Tags
  • new gene name
Green Green List (high evidence)
ITCH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Autoimmune disease, multisystem, with facial dysmorphism, 613385 (3)
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)
ITGB2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukocyte adhesion deficiency, 116920 (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)
ITK
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lymphoproliferative syndrome 1, 613011 (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)
JAGN1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neutropenia, severe congenital, 6, autosomal recessive, 616022 (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)
JAM3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 (3)
Tags
Green Green List (high evidence)
JUP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Naxos disease, 601214 (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)
KCNJ10
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • SESAME syndrome, 612780 (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)
KCNV2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Retinal cone dystrophy 3B, 610356 (3)
Tags
Green Green List (high evidence)
KCTD7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 (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)
KIAA0586
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3), Autosomal recessive
Tags
Green Green List (high evidence)
KIAA1109
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Alkuraya-Kucinskas syndrome, 617822 (3), Autosomal recessive
Tags
Green Green List (high evidence)
KIF14
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly 20, primary, autosomal recessive, 617914 (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)
KIF1BP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Goldberg-Shprintzen megacolon syndrome, 609460 (3)
Tags
Green Green List (high evidence)
KIF1C
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spastic ataxia 2, autosomal recessive, 611302 (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)
KLHL40
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nemaline myopathy 8, autosomal recessive, 615348 (3)
Tags
Green Green List (high evidence)
KLHL41
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nemaline myopathy 9, 615731 (3)
Tags
Green Green List (high evidence)
KLHL7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • PERCHING syndrome, 617055 (3)
Tags
Green Green List (high evidence)
KNL1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly 4, primary, autosomal recessive, 604321 (3)
Tags
Green Green List (high evidence)
KPTN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, autosomal recessive 41, 615637 (3)
Tags
Green Green List (high evidence)
KRT10
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epidermolytic hyperkeratosis, 113800 (3), Autosomal recessive
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)
KRT5
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)
KRT85
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ectodermal dysplasia 4, hair/nail type, 602032 (3)
Tags
Green Green List (high evidence)
KY
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myopathy, myofibrillar, 7, 617114 (3), Autosomal recessive
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)
LAMA1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Poretti-Boltshauser syndrome, 615960 (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)
LAMC3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cortical malformations, occipital, 614115 (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)
LARP7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Alazami syndrome, 615071 (3)
Tags
Green Green List (high evidence)
LARS
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Infantile liver failure syndrome 1, MIM# 615438
Tags
  • new gene name
Green Green List (high evidence)
LARS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Perrault syndrome 4, 615300 (3)
Tags
Green Green List (high evidence)
LAT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Immunodeficiency 52, MIM# 617514
Tags
Green Green List (high evidence)
LBR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Greenberg skeletal dysplasia, 215140 (3)
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)
LCAT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Norum disease, 245900 (3)
Tags
Green Green List (high evidence)
LDHA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glycogen storage disease XI, 612933 (3)
Tags
Green Green List (high evidence)
LDHB
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lactate dehydrogenase-B deficiency, MIM# 614128
Tags
  • for review
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)
LEP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Obesity, morbid, due to leptin deficiency, 614962 (3)
Tags
Green Green List (high evidence)
LGI4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 (3), Autosomal recessive
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)
LIAS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462 (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)
LINS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, autosomal recessive 27, 614340 (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)
LIPC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hepatic lipase deficiency, 614025 (3)
Tags
Green Green List (high evidence)
LIPT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lipoyltransferase 1 deficiency, 616299 (3)
Tags
Green Green List (high evidence)
LMAN1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Combined factor V and VIII deficiency, 227300 (3)
Tags
Green Green List (high evidence)
LMBR1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Acheiropody, 200500 (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)
LMOD3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nemaline myopathy 10, 616165 (3)
Tags
Green Green List (high evidence)
LONP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • CODAS syndrome, 600373 (3)
Tags
Green Green List (high evidence)
LPIN1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myoglobinuria, acute recurrent, autosomal recessive, 268200 (3)
Tags
Green Green List (high evidence)
LPIN2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Majeed syndrome, 609628 (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)
LRBA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3)
Tags
Green Green List (high evidence)
LRIG2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Urofacial syndrome 2, 615112 (3)
Tags
Green Green List (high evidence)
LRMDA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Albinism, oculocutaneous, type VII, 615179 (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)
LRP4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cenani-Lenz syndactyly syndrome, 212780 (3)
Tags
Green Green List (high evidence)
LRP5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Osteoporosis-pseudoglioma syndrome, 259770 (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)
LRRC6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 19, 614935 (3)
Tags
Green Green List (high evidence)
LRSAM1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Charcot-Marie-Toothe disease, axonal, type 2P, 614436 (3)
Tags
Green Green List (high evidence)
LTBP3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Tooth agenesis, selective, 6, 613097 (3)
Tags
Green Green List (high evidence)
LTBP4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cutis laxa, autosomal recessive, type IC, 613177 (3)
Tags
Green Green List (high evidence)
LYRM7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 8, 615838 (3), Autosomal recessive
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)
MALT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 12, 615468 (3)
Tags
Green Green List (high evidence)
MAN1B1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, autosomal recessive 15, 614202 (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)
MAOA
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Brunner syndrome, 300615 (3)
Tags
Green Green List (high evidence)
MAPKBP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nephronophthisis 20, 617271 (3), Autosomal recessive
Tags
Green Green List (high evidence)
MARS
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Interstitial lung and liver disease, 615486 (3)
Tags
  • new gene name
Green Green List (high evidence)
MARS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spastic ataxia 3, autosomal recessive, 611390 (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)
MBOAT7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, autosomal recessive 57, 617188 (3)
Tags
Green Green List (high evidence)
MBTPS2
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • IFAP syndrome with or without BRESHECK syndrome, 308205 (3)
Tags
Green Green List (high evidence)
MC2R
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 (3)
Tags
Green Green List (high evidence)
MCFD2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Factor V and factor VIII, combined deficiency of, 613625 (3)
Tags
Green Green List (high evidence)
MCM4
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Natural killer cell and glucocorticoid deficiency with DNA repair defect, 609981 (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)
MED23
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, autosomal recessive 18, 614249 (3)
Tags
Green Green List (high evidence)
MED25
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Basel-Vanagait-Smirin-Yosef syndrome, 616449 (3)
Tags
Green Green List (high evidence)
MEGF10
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3)
Tags
Green Green List (high evidence)
MEGF8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Carpenter syndrome 2, 614976 (3)
Tags
Green Green List (high evidence)
MERTK
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Retinitis pigmentosa 38, 613862 (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)
MFSD2A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly 15, primary, autosomal recessive, 616486 (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)
MGAT2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital disorder of glycosylation, type IIa, 212066 (3)
Tags
Green Green List (high evidence)
MGME1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial DNA depletion syndrome 11, 615084 (3)
Tags
Green Green List (high evidence)
MGP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Keutel syndrome, 245150 (3)
Tags
Green Green List (high evidence)
MICU1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myopathy with extrapyramidal signs, 615673 (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)
MMP2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3)
Tags
Green Green List (high evidence)
MMP21
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Heterotaxy, visceral, 7, autosomal, 616749 (3), Autosomal recessive
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)
MPDZ
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hydrocephalus, nonsyndromic, autosomal recessive 2, 615219 (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)
MPLKIP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Trichothiodystrophy 4, nonphotosensitive, 234050 (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)
MPZ
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Dejerine-Sottas disease, 145900 (3)
Tags
Green Green List (high evidence)
MRAP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glucocorticoid deficiency 2, 607398 (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)
MSTO1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Myopathy, mitochondrial, and ataxia, MIM#617675
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)
MTHFD1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3), Autosomal recessive
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)
MTO1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Combined oxidative phosphorylation deficiency 10, 614702 (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
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Methylmalonic aciduria, mut(0) type, 251000 (3)
Tags
  • new gene name
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)
MYD88
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260 (3)
Tags
Green Green List (high evidence)
MYMK
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Carey-Fineman-Ziter syndrome, 254940 (3), Autosomal recessive
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)
NAA10
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • N-terminal acetyltransferase deficiency, 300855 (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)
NANS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, 610442 (3), Autosomal recessive
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)
NAXE
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186 (3), Autosomal recessive
Tags
Green Green List (high evidence)
NBAS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (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)
NCF1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Chronic granulomatous disease due to deficiency of NCF-1, 233700 (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)
NDUFA1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex I deficiency, 252010 (3)
Tags
Green Green List (high evidence)
NDUFA10
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leigh syndrome, 256000 (3), Autosomal recessive, Mitochondrial
Tags
Green Green List (high evidence)
NDUFA11
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex I deficiency, 252010 (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)
NDUFAF6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)
Tags
Green Green List (high evidence)
NDUFS1
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)
NDUFS2
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)
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)
NDUFS8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leigh syndrome due to mitochondrial complex I deficiency, 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)
NDUFV2
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
  • Nemaline myopathy 2, autosomal recessive, 256030 (3)
Tags
Green Green List (high evidence)
NECTIN1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cleft lip/palate-ectodermal dysplasia syndrome, 225060 (3)
Tags
Green Green List (high evidence)
NEK1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 (3)
Tags
Green Green List (high evidence)
NEK8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Renal-hepatic-pancreatic dysplasia 2, 615415 (3), Autosomal recessive
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)
NEXMIF
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked 98, MIM #300912
Tags
Green Green List (high evidence)
NFU1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 1, 605711 (3)
Tags
Green Green List (high evidence)
NGF
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type V, 608654 (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)
NHEJ1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 (3)
Tags
Green Green List (high evidence)
NHLRC1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)
Tags
Green Green List (high evidence)
NHS
1 review
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cataract 40, X-linked, 302200 (3)
Tags
Green Green List (high evidence)
NIPAL4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 6, 612281 (3)
Tags
Green Green List (high evidence)
NKX3-2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3), Autosomal recessive
Tags
Green Green List (high evidence)
NKX6-2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 (3)
Tags
Green Green List (high evidence)
NLGN4X
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked, 300495 (3)
Tags
Green Green List (high evidence)
NMNAT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leber congenital amaurosis 9, 608553 (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, 257220 (3)
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, 607625 (3)
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)
NPHP4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Senior-Loken syndrome 4, 606996 (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)
NPR2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Acromesomelic dysplasia, Maroteaux type, 602875 (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)
NSDHL
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • CK syndrome, 300831 (3)
Tags
Green Green List (high evidence)
NSUN2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, autosomal recessive 5, 611091 (3)
Tags
Green Green List (high evidence)
NT5C2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spastic paraplegia 45, 613162 (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)
NUBPL
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)
NUP107
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nephrotic syndrome, type 11, 616730 (3), Autosomal recessive
Tags
Green Green List (high evidence)
NUP62
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Striatonigral degeneration, infantile, 271930 (3)
Tags
  • for review
Green Green List (high evidence)
NUP93
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nephrotic syndrome, type 12, 616892 (3), Autosomal recessive
Tags
Green Green List (high evidence)
NYX
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Night blindness, congenital stationary (complete), 1A, X-linked, MIM #310500
Tags
Green Green List (high evidence)
OBSL1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • 3-M syndrome 2, 612921 (3)
Tags
Green Green List (high evidence)
OCA2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Albinism, brown oculocutaneous, 203200 (3)
Tags
Green Green List (high evidence)
OCLN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Band-like calcification with simplified gyration and polymicrogyria, 251290 (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)
ORAI1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 9, 612782 (3)
Tags
Green Green List (high evidence)
ORC1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Meier-Gorlin syndrome 1, 224690 (3)
Tags
Green Green List (high evidence)
ORC6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Meier-Gorlin syndrome 3, 613803 (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)
OTUD6B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 (3), Autosomal recessive
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, 234200 (3)
Tags
Green Green List (high evidence)
PAPSS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 (3)
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)
PCDH12
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly, seizures, spasticity, and brain calcification, 251280 (3), Autosomal recessive
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)
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)
PCSK1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Obesity with impaired prohormone processing, 600955 (3)
Tags
Green Green List (high evidence)
PCYT1A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3)
Tags
Green Green List (high evidence)
PDE6C
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cone dystrophy 4, 613093 (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
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)
PDP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pyruvate dehydrogenase phosphatase deficiency, 608782 (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)
PEX11B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Peroxisome biogenesis disorder 14B, 614920 (3)
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)
PEX3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Peroxisome biogenesis disorder 10A (Zellweger), 614882
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)
PGAP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, autosomal recessive 42, 615802 (3), Autosomal recessive
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)
PGAP3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hyperphosphatasia with mental retardation syndrome 4, 615716 (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)
PHF6
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Borjeson-Forssman-Lehmann syndrome, 301900 (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)
PIEZO2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3), Autosomal recessive
Tags
Green Green List (high evidence)
PIGA
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 (3)
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)
PIGL
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • CHIME syndrome, 280000 (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)
PIGO
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hyperphosphatasia with mental retardation syndrome 2, 614749 (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)
PIGV
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hyperphosphatasia with mental retardation syndrome 1, 239300 (3)
Tags
Green Green List (high evidence)
PIH1D3
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 36, X-linked, 300991 (3), X-linked recessive
Tags
  • new gene name
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)
PKLR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pyruvate kinase deficiency, 266200 (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, 610217 (3)
Tags
Green Green List (high evidence)
PLAA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 (3), Autosomal recessive
Tags
Green Green List (high evidence)
PLCE1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nephrotic syndrome, type 3, 610725 (3)
Tags
Green Green List (high evidence)
PLEC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epidermolysis bullosa simplex with pyloric atresia, 612138 (3)
Tags
Green Green List (high evidence)
PLG
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Plasminogen deficiency, type I, 217090 (3)
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)
PLOD2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bruck syndrome 2, 609220 (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)
PMPCA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 2, 213200 (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)
PNP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3)
Tags
Green Green List (high evidence)
PNPLA6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Boucher-Neuhauser syndrome, 215470 (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)
POC1A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 (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)
POLR3A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 (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)
POMC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (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)
POMGNT2
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, 8, 614830 (3)
Tags
Green Green List (high evidence)
POMK
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, 12, 615249 (3)
Tags
Green Green List (high evidence)
POMP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (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)
POP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Anauxetic dysplasia 2, 617396 (3), Autosomal recessive
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)
PPA2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Sudden cardiac failure, infantile, 617222 (3), Autosomal recessive
Tags
Green Green List (high evidence)
PPIB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Osteogenesis imperfecta, type IX, #259440
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)
PRDM12
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type VIII, 616488 (3), Autosomal recessive
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)
PRG4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3)
Tags
Green Green List (high evidence)
PRICKLE1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epilepsy, progressive myoclonic 1B, 612437 (3)
Tags
Green Green List (high evidence)
PRKRA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Dystonia 16, MIM#612067
Tags
Green Green List (high evidence)
PROC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (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)
PROS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (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)
PRUNE1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481 (3), Autosomal recessive
Tags
Green Green List (high evidence)
PRX
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Dejerine-Sottas disease, 145900 (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)
PSAT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neu-Laxova syndrome 2, 616038 (3)
Tags
Green Green List (high evidence)
PSMB8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040 (3)
Tags
Green Green List (high evidence)
PSPH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Phosphoserine phosphatase deficiency, 614023 (3)
Tags
Green Green List (high evidence)
PTH1R
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Chondrodysplasia, Blomstrand type, 215045 (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)
PXDN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Corneal opacification and other ocular anomalies, 269400 (3)
Tags
Green Green List (high evidence)
PYCR1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cutis laxa, autosomal recessive, type IIB, 612940 (3)
Tags
Green Green List (high evidence)
PYCR2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukodystrophy, hypomyelinating, 10, 616420 (3)
Tags
Green Green List (high evidence)
PYROXD1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myopathy, myofibrillar, 8, 617258 (3), Autosomal recessive
Tags
Green Green List (high evidence)
QARS
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 (3)
Tags
  • new gene name
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)
RAB27A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Griscelli syndrome, type 2, 607624 (3)
Tags
Green Green List (high evidence)
RAB33B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Smith-McCort dysplasia 2, 615222 (3)
Tags
Green Green List (high evidence)
RAB39B
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked 72, 300271 (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)
RAD50
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nijmegen breakage syndrome-like disorder, 613078 (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)
RARB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microphthalmia, syndromic 12, 615524 (3), Autosomal recessive
Tags
Green Green List (high evidence)
RARS
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukodystrophy, hypomyelinating, 9, 616140 (3)
Tags
  • new gene name
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)
RBCK1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 (3)
Tags
Green Green List (high evidence)
RBM10
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • TARP syndrome, 311900 (3)
Tags
Green Green List (high evidence)
RCBTB1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Retinal dystrophy with or without extraocular anomalies, 617175 (3), Autosomal recessive
Tags
Green Green List (high evidence)
RD3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leber congenital amaurosis 12, 610612 (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)
RECQL4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Baller-Gerold syndrome, 218600 (3)
Tags
Green Green List (high evidence)
REEP6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Retinitis pigmentosa 77, 617304 (3), Autosomal recessive
Tags
Green Green List (high evidence)
REN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Renal tubular dysgenesis, 267430 (3)
Tags
Green Green List (high evidence)
RETREG1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3)
Tags
Green Green List (high evidence)
RFT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital disorder of glycosylation, type In, 612015 (3)
Tags
Green Green List (high evidence)
RFX6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitchell-Riley syndrome, 615710 (3)
Tags
Green Green List (high evidence)
RFXANK
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • MHC class II deficiency, complementation group B, 209920 (3)
Tags
Green Green List (high evidence)
RFXAP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bare lymphocyte syndrome, type II, complementation group D, 209920 (3)
Tags
Green Green List (high evidence)
RIN2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3)
Tags
Green Green List (high evidence)
RIPK4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Popliteal pterygium syndrome 2, lethal type, 263650 (3)
Tags
Green Green List (high evidence)
RLIM
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked 61, 300978 (3), X-linked recessive
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)
RNASET2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukoencephalopathy, cystic, without megalencephaly, 612951 (3)
Tags
Green Green List (high evidence)
RNU4ATAC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephalic osteodysplastic primordial dwarfism, type I, 210710 (3)
Tags
Green Green List (high evidence)
ROBO3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Gaze palsy, horizontal, with progressive scoliosis, 607313 (3)
Tags
Green Green List (high evidence)
ROGDI
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Kohlschutter-Tonz syndrome, 226750 (3)
Tags
Green Green List (high evidence)
ROR2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Robinow syndrome, autosomal recessive, 268310 (3)
Tags
Green Green List (high evidence)
RORC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 42, 616622 (3), Autosomal recessive
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)
RPGR
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Macular degeneration, X-linked atrophic, 300834 (3)
Tags
Green Green List (high evidence)
RPGRIP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cone-rod dystrophy 13, 608194 (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)
RRM2B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3)
Tags
Green Green List (high evidence)
RSPH1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 24, 615481 (3)
Tags
Green Green List (high evidence)
RSPH4A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 11, 612649 (3)
Tags
Green Green List (high evidence)
RSPH9
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 12, 612650 (3)
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)
RTN4IP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 (3), Autosomal recessive
Tags
Green Green List (high evidence)
RTTN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Polymicrogyria with seizures, 614833 (3)
Tags
Green Green List (high evidence)
RYR1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Minicore myopathy with external ophthalmoplegia, 255320 (3)
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)
SAMD9
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Tumoral calcinosis, familial, normophosphatemic, 610455 (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)
SAR1B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Chylomicron retention disease, 246700 (3)
Tags
Green Green List (high evidence)
SARS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 (3)
Tags
Green Green List (high evidence)
SBDS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Shwachman-Diamond syndrome, 260400 (3)
Tags
Green Green List (high evidence)
SBF2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Charcot-Marie-Tooth disease, type 4B2, 604563 (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)
SCARB2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 (3)
Tags
Green Green List (high evidence)
SCARF2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Van den Ende-Gupta syndrome, 600920 (3)
Tags
Green Green List (high evidence)
SCN9A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Insensitivity to pain, congenital, 243000 (3)
Tags
Green Green List (high evidence)
SCNN1A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pseudohypoaldosteronism, type I, 264350 (3)
Tags
Green Green List (high evidence)
SCNN1B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pseudohypoaldosteronism, type I, 264350 (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)
SCYL1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 21, 616719 (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)
SDHAF1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex II deficiency, 252011 (3)
Tags
Green Green List (high evidence)
SEC23A
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Craniolenticulosutural dysplasia, 607812 (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)
SELENON
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy, rigid spine, 1, 602771 (3)
Tags
Green Green List (high evidence)
SEMA4A
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cone-rod dystrophy 10, 610283 (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)
SERPINA1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Emphysema-cirrhosis, due to AAT deficiency, 613490 (3)
Tags
Green Green List (high evidence)
SERPINF1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Osteogenesis imperfecta, type VI, 613982 (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)
SETX
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 1, 606002 (3)
Tags
Green Green List (high evidence)
SFTPB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 1, 265120 (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)
SGO1
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Chronic atrial and intestinal dysrhythmia, 616201 (3)
Tags
Green Green List (high evidence)
SGPL1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nephrotic syndrome 14, 617575 (3), Autosomal recessive
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)
SH2D1A
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lymphoproliferative syndrome, X-linked, 1, 308240 (3)
Tags
Green Green List (high evidence)
SH3PXD2B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Frank-ter Haar syndrome, 249420 (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)
SHOX
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Langer mesomelic dysplasia, 249700 (3)
Tags
Green Green List (high evidence)
SIL1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Marinesco-Sjogren syndrome, 248800 (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)
SLC12A5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epileptic encephalopathy, early infantile, 34, 616645 (3), Autosomal recessive
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)
SLC13A5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epileptic encephalopathy, early infantile, 25, 615905 (3)
Tags
Green Green List (high evidence)
SLC16A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Monocarboxylate transporter 1 deficiency, 616095 (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)
SLC24A5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Albinism, oculocutaneous, type VI, 113750 (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)
SLC25A19
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (progressive polyneuropathy type), 613710
Tags
Green Green List (high evidence)
SLC25A22
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epileptic encephalopathy, early infantile, 3, 609304 (3)
Tags
Green Green List (high evidence)
SLC25A38
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 (3)
Tags
Green Green List (high evidence)
SLC25A46
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neuropathy, hereditary motor and sensory, type VIB, 616505 (3), Autosomal recessive
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)
SLC29A3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Histiocytosis-lymphadenopathy plus syndrome, 602782 (3)
Tags
Green Green List (high evidence)
SLC2A10
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Arterial tortuosity syndrome, 208050 (3)
Tags
Green Green List (high evidence)
SLC2A2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Fanconi-Bickel syndrome, 227810 (3)
Tags
Green Green List (high evidence)
SLC30A10
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280 (3)
Tags
Green Green List (high evidence)
SLC33A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital cataracts, hearing loss, and neurodegeneration, 614482 (3)
Tags
Green Green List (high evidence)
SLC35A3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Arthrogryposis, mental retardation, and seizures (MIM615553)
Tags
Green Green List (high evidence)
SLC35D1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Schneckenbecken dysplasia, 269250 (3)
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)
SLC39A14
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hypermanganesemia with dystonia 2, 617013 (3), Autosomal recessive
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)
SLC39A8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital disorder of glycosylation, type IIn, 616721 (3), Autosomal recessive
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)
SLC4A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Renal tubular acidosis, distal, AR, 611590 (3)
Tags
Green Green List (high evidence)
SLC4A4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (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)
SLC5A7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myasthenic syndrome, congenital, 20, presynaptic, 617143 (3), Autosomal recessive
Tags
Green Green List (high evidence)
SLC6A3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Parkinsonism-dystonia, infantile, 613135 (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)
SLC9A3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Diarrhea 8, secretory sodium, congenital, 616868 (3), Autosomal recessive
Tags
Green Green List (high evidence)
SLC9A6
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, Christianson type
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)
SMS
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked, Snyder-Robinson type, 309583 (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)
SNORD118
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukoencephalopathy, brain calcifications, and cysts, 614561 (3), Autosomal recessive
Tags
Green Green List (high evidence)
SNX14
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 20, 616354 (3)
Tags
Green Green List (high evidence)
SOST
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Sclerosteosis 1, 269500 (3)
Tags
Green Green List (high evidence)
SP110
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hepatic venoocclusive disease with immunodeficiency, 235550 (3)
Tags
Green Green List (high evidence)
SPAG1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 28, 615505 (3)
Tags
Green Green List (high evidence)
SPART
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Troyer syndrome, 275900 (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)
SPATA7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leber congenital amaurosis 3, 604232 (3)
Tags
Green Green List (high evidence)
SPEG
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Centronuclear myopathy 5, MIM# 615959
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, 604360 (3)
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)
SPINT2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Diarrhea 3, secretory sodium, congenital, syndromic, 270420 (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)
SQSTM1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145 (3), Autosomal recessive
Tags
Green Green List (high evidence)
SRD5A3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital disorder of glycosylation, type Iq, 612379 (3)
Tags
Green Green List (high evidence)
SSR4
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital disorder of glycosylation, type Iy, 300934 (3), X-linked recessive
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)
STAMBP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly-capillary malformation syndrome, 614261 (3)
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)
STAT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 (3)
Tags
Green Green List (high evidence)
STIL
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly 7, primary, autosomal recessive, 612703 (3)
Tags
Green Green List (high evidence)
STIM1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 10, 612783 (3)
Tags
Green Green List (high evidence)
STRA6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microphthalmia, isolated, with coloboma 8, 601186 (3)
Tags
Green Green List (high evidence)
STRADA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3), Autosomal recessive
Tags
Green Green List (high evidence)
STUB1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 16, 615768 (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)
SUCLA2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3)
Tags
Green Green List (high evidence)
SUCLG1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 (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)
SYP
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked 96, 300802 (3)
Tags
Green Green List (high evidence)
TALDO1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Transaldolase deficiency, 606003 (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)
TAP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bare lymphocyte syndrome, type I, 604571 (3)
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)
TBCK
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 (3), Autosomal recessive
Tags
Green Green List (high evidence)
TBX19
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Adrenocorticotropic hormone deficiency, 201400 (3)
Tags
Green Green List (high evidence)
TCAP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2G, 601954 (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)
TDRD7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cataract 36, 613887 (3)
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, 605407 (3)
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)
TIMM8A
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Jensen syndrome, 311150 (3)
Tags
Green Green List (high evidence)
TJP2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cholestasis, progressive familial intrahepatic 4, 615878 (3)
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)
TMCO1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980 (3)
Tags
Green Green List (high evidence)
TMEM107
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Orofaciodigital syndrome XVI, 617563 (3), Autosomal recessive
Tags
Green Green List (high evidence)
TMEM126A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Optic atrophy 7, 612989 (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)
TMEM165
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital disorder of glycosylation, type IIk, 614727 (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)
TMEM5
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 (3)
Tags
  • new gene name
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)
TMEM70
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (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)
TNFRSF11A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Osteopetrosis, autosomal recessive 7, 612301 (3)
Tags
Green Green List (high evidence)
TNFRSF11B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Paget disease of bone 5, juvenile-onset, 239000 (3)
Tags
Green Green List (high evidence)
TNFRSF13B
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency, common variable, 2, 240500 (3)
Tags
Green Green List (high evidence)
TNFSF11
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Osteopetrosis, autosomal recessive 2, 259710 (3)
Tags
Green Green List (high evidence)
TNNT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nemaline myopathy 5, Amish type, 605355 (3)
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)
TPI1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 (3)
Tags
Green Green List (high evidence)
TPK1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 (3)
Tags
Green Green List (high evidence)
TPM3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nemaline myopathy 1, autosomal dominant or recessive, 609284 (3)
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)
TRAPPC11
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2S, 615356 (3)
Tags
Green Green List (high evidence)
TRAPPC9
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, autosomal recessive 13, 613192 (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)
TRIP11
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Achondrogenesis, type IA, 200600 (3)
Tags
Green Green List (high evidence)
TRIT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Combined oxidative phosphorylation deficiency 35, 617873 (3), Autosomal recessive
Tags
Green Green List (high evidence)
TRMT10A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly, short stature, and impaired glucose metabolism, 616033 (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)
TRNT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 (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)
TSPAN7
2 reviews
2 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked 58, 300210 (3)
Tags
  • for review
Green Green List (high evidence)
TTC19
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 2, 615157 (3)
Tags
Green Green List (high evidence)
TTC21B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Short-rib thoracic dysplasia 4 with or without polydactyly, 613819 (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)
TTI2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, autosomal recessive 39, 615541 (3)
Tags
Green Green List (high evidence)
TTN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myopathy, early-onset, with fatal cardiomyopathy, 611705 (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)
TUBGCP4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 (3)
Tags
Green Green List (high evidence)
TUBGCP6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3)
Tags
Green Green List (high evidence)
TUFM
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Combined oxidative phosphorylation deficiency 4, 610678 (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)
TUSC3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, autosomal recessive 7, 611093 (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)
TXNL4A
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Burn-McKeown syndrome, 608572 (3)
Tags
Green Green List (high evidence)
TYK2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 35, 611521 (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)
UBA1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spinal muscular atrophy, X-linked 2, infantile, 301830 (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)
UBE2A
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, Nascimento-type, 300860 (3)
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)
UBE3B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Kaufman oculocerebrofacial syndrome, 244450 (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)
UFM1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukodystrophy, hypomyelinating, 14, 617899 (3), Autosomal recessive
Tags
Green Green List (high evidence)
UGT1A1
1 review
 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)
UMPS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Orotic aciduria, 258900 (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)
UNC80
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 (3), Autosomal recessive
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)
UQCRQ
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 4, 615159 (3)
Tags
Green Green List (high evidence)
UROS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Porphyria, congenital erythropoietic, 263700 (3)
Tags
Green Green List (high evidence)
USB1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Poikiloderma with neutropenia, 604173 (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)
VARS
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (3), Autosomal recessive
Tags
  • new gene name
Green Green List (high evidence)
VARS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Combined oxidative phosphorylation deficiency 20, 615917 (3)
Tags
Green Green List (high evidence)
VIPAS39
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 (3)
Tags
Green Green List (high evidence)
VKORC1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473 (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)
VMA21
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myopathy, X-linked, with excessive autophagy, 310440 (3), X-linked recessive
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)
VPS13A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Choreoacanthocytosis, 200150 (3)
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)
VPS33B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3)
Tags
Green Green List (high evidence)
VPS37A
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spastic paraplegia 53, autosomal recessive, 614898 (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)
VWF
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3)
Tags
Green Green List (high evidence)
WARS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 (3), Autosomal recessive
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)
WDR19
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Senior-Loken syndrome 8, 616307 (3)
Tags
Green Green List (high evidence)
WDR34
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3)
Tags
  • new gene name
Green Green List (high evidence)
WDR35
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 (3)
Tags
Green Green List (high evidence)
WDR45B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 (3), Autosomal recessive
Tags
Green Green List (high evidence)
WDR60
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3)
Tags
  • new gene name
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)
WDR73
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Galloway-Mowat syndrome, 251300 (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)
WFS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Wolfram syndrome, 222300 (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
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3)
Tags
  • new gene name
Green Green List (high evidence)
WNK1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)
Tags
Green Green List (high evidence)
WNT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Osteogenesis imperfecta, type XV, 615220 (3)
Tags
Green Green List (high evidence)
WNT10B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Split-hand/foot malformation 6, 225300 (3)
Tags
Green Green List (high evidence)
WNT7A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ulna and fibula, absence of, with severe limb deficiency, 276820 (3)
Tags
Green Green List (high evidence)
WRAP53
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 3, 613988 (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)
XRCC4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Short stature, microcephaly, and endocrine dysfunction, 616541 (3), Autosomal recessive
Tags
Green Green List (high evidence)
XYLT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Desbuquois dysplasia 2, 615777 (3)
Tags
Green Green List (high evidence)
XYLT2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spondyloocular syndrome, 605822 (3), Autosomal recessive
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)
ZAP70
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Selective T-cell defect, 269840 (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)
ZC4H2
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Wieacker-Wolff syndrome, 314580 (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)
ZIC3
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital heart defects, nonsyndromic, 1, X-linked, 306955 (3)
Tags
Green Green List (high evidence)
ZMPSTE24
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)
ZMYND10
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 22, 615444 (3)
Tags
Green Green List (high evidence)
ZNF335
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly 10, primary, autosomal recessive
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
Green Green List (high evidence)
ZNHIT3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • PEHO syndrome, 260565 (3), Autosomal recessive
Tags
Amber Amber List (moderate evidence)
B9D1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Meckel syndrome 9, MIM# 614209
  • Joubert syndrome 27, MIM# 617120
Tags
Amber Amber List (moderate evidence)
COL2A1
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Mackenzie's Mission
Phenotypes
  • Spondyloperipheral dysplasia, MIM #271700
Tags
Amber Amber List (moderate evidence)
DYNC1I2
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492
Tags
Amber Amber List (moderate evidence)
ERBB3
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Mackenzie's Mission
Phenotypes
  • Lethal congenital contractural syndrome 2, 607598 (3)
Tags
Amber Amber List (moderate evidence)
KCNE1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Mackenzie's Mission
Phenotypes
  • Jervell and Lange-Nielsen syndrome 2, 612347 (3)
Tags
Amber Amber List (moderate evidence)
MBTPS1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • Literature
Phenotypes
  • ?Spondyloepiphyseal dysplasia, Kondo-Fu type, MIM #618392
Tags
Amber Amber List (moderate evidence)
MOGS
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Congenital disorder of glycosylation, type IIb, MIM# 606056
Tags
Amber Amber List (moderate evidence)
NTNG2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718
Tags
Amber Amber List (moderate evidence)
POLA1
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Mackenzie's Mission
Phenotypes
  • Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM#301220
  • Van Esch-O'Driscoll syndrome, MIM #301030
Tags
Amber Amber List (moderate evidence)
RPL10
2 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked, syndromic, 35 (MIM#300998)
Tags
Amber Amber List (moderate evidence)
TMEM94
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Intellectual developmental disorder with cardiac defects and dysmorphic facies, MIM#618316
Tags
Amber Amber List (moderate evidence)
TRAC
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 7, TCR-alpha/beta deficient, 615387 (3)
Tags
Amber Amber List (moderate evidence)
XPNPEP3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Mackenzie's Mission
Phenotypes
  • Nephronophthisis-like nephropathy 1, 613159 (3)
Tags
Red Red List (low evidence)
ABCA4
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Stargardt disease 1 MIM#248200
  • Retinal dystrophy, early-onset severe MIM#248200
  • Cone-rod dystrophy 3 MIM#604116
Tags
Red Red List (low evidence)
ABCC6
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Pseudoxanthoma elasticum MIM#264800
  • Arterial calcification, generalized, of infancy, 2 MIM#614473
Tags
Red Red List (low evidence)
ACSF3
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Combined malonic and methylmalonic aciduria, MIM#614265
Tags
Red Red List (low evidence)
ACY1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Aminoacylase 1 deficiency, MIM# 609924
Tags
Red Red List (low evidence)
ADPRHL2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM#618170
Tags
  • new gene name
Red Red List (low evidence)
AFF2
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Mental retardation, X-linked, FRAXE type, #309548
Tags
Red Red List (low evidence)
BCAP31
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
Phenotypes
  • Deafness, dystonia, and cerebral hypomyelination, MIM# 300475
Tags
Red Red List (low evidence)
CBS
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Homocystinuria, B6-responsive and nonresponsive types, 236200 (3)
Tags
Red Red List (low evidence)
CD81
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency, common variable, 6, 613496 (3)
Tags
Red Red List (low evidence)
CIB2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Usher syndrome, type IJ, 614869 (3)
Tags
Red Red List (low evidence)
COG5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Congenital disorder of glycosylation, type IIi, MIM# 613612
Tags
Red Red List (low evidence)
FAM161A
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Retinitis pigmentosa 28, MIM #606068
Tags
Red Red List (low evidence)
FITM2
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Siddiqi syndrome MIM#618635
Tags
Red Red List (low evidence)
GTPBP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Jaberi-Elahi syndrome, MIM#617988
Tags
Red Red List (low evidence)
IMPG2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Retinitis pigmentosa 56, MIM #613801
Tags
Red Red List (low evidence)
ISCA1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613
Tags
  • for review
Red Red List (low evidence)
ITGA3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748
Tags
Red Red List (low evidence)
KRT8
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • CIRRHOSIS, FAMILIAL, MIM #215600
Tags
Red Red List (low evidence)
OPN1LW
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Blue cone monochromacy, MIM#303700
  • Colorblindness, protan, MIM#303900
Tags
Red Red List (low evidence)
PDE6B
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Retinitis pigmentosa-40, MIM #613801
Tags
Red Red List (low evidence)
PIP5K1C
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Lethal congenital contractural syndrome 3, 611369 (3)
Tags
Red Red List (low evidence)
PTPN23
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890
Tags
Red Red List (low evidence)
PUS7
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
  • OMIM #618342
Tags
Red Red List (low evidence)
TBC1D20
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Warburg micro syndrome 4, MIM# 615663
  • Martsolf syndrome
Tags
Red Red List (low evidence)
TBX22
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Cleft palate with ankyloglossia, MIM #303400
Tags
Red Red List (low evidence)
TP53RK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Galloway-Mowat syndrome 4, MIM# 617730
Tags
Red Red List (low evidence)
TPRKB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Galloway-Mowat syndrome 5, MIM# 617731
Tags
Red Red List (low evidence)
TRAPPC12
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669
Tags
Red Red List (low evidence)
TRAPPC6B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862
Tags
Red Red List (low evidence)
TSPYL1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Sudden infant death with dysgenesis of the testes syndrome, 608800 (3)
Tags
Red Red List (low evidence)
TUBA8
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Polymicrogyria with optic nerve hypoplasia, 613180 (3)
Tags
Red Red List (low evidence)
UPB1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Beta-ureidopropionase deficiency, MIM #613161
Tags
Red Red List (low evidence)
UQCRC2
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 5, 615160 (3)
Tags
Red Red List (low evidence)
YIF1B
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Central hypotonia
  • Failure to thrive
  • Microcephaly
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • Spasticity
  • Abnormality of movement
Tags
Red Red List (low evidence)
ZNF469
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Brittle cornea syndrome 1, MIM #229200
Tags
No list No list
PIBF1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • OMIM# 617767: JOUBERT SYNDROME 33
  • JBTS33
Tags
No list No list
VAC14
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Striatonigral degeneration, childhood-onset, MIM#617054
Tags

Downloads

Download lists

Download Version