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Description
This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).

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

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

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

13 reviewers

  • Himanshu Goel (Hunter Genetics)

  • Alison Yeung (Victorian Clinical Genetics Services)

  • Lauren Rogers (Victorian Clinical Genetics Services)

  • Lauren Thomas (VIctorian Clinical Genetics Services)

  • Clare Hunt (Victorian Clinical Genetics Services)

  • Lilian Downie (Victorian Clinical Genetics Services)

  • Lucy Spencer (Victorian Clinical Genetics Services)

  • Crystle Lee (Victorian Clinical Genetics Services)

  • Karina Sandoval (Victorian Clinical Genetics Services)

  • Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

  • Andrew Coventry (Victorian Clinical Genetics Services)

  • Santosh Varughese (University of Melbourne)

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

1371 Entities

172 reviewed, 1247 green

List Entity Reviews Mode of inheritance Details
1371 Entitiess
Green Green List (high evidence)
AAAS
2 reviews
2 green 		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
1 review
1 green 		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
1 review
1 green 		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
1 review
1 green 		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
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Chanarin-Dorfman syndrome, 275630 (3)
Tags
Green Green List (high evidence)
ACAD9
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex I deficiency due to ACAD9 deficiency, 611126 (3)
Tags
Green Green List (high evidence)
ACADM
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM #201450
Tags
Green Green List (high evidence)
ACADVL
1 review
1 green 		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
1 review
1 green 		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
1 review
1 green 		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
1 review
1 green 		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
1 review
1 green 		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
1 review
1 green 		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
1 review
1 green 		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)
ALG3
1 review
1 green 		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
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Alstrom syndrome, 203800 (3)
Tags
Green Green List (high evidence)
ALOX12B
1 review
1 green 		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
1 review
 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
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • GAPO syndrome, 230740 (3)
Tags
Green Green List (high evidence)
ANTXR2
1 review
1 green 		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
1 review
1 green 		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
1 review
1 green 		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
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)
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
1 review
 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
  • new gene name
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
1 review
1 green 		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
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Kufor-Rakeb syndrome (MIM#606693)
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
1 review
1 green 		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
2 reviews
2 green 		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
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • ATR-X-related syndrome MONDO:0016980
  • Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3)
Tags
Green Green List (high evidence)
AUH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • 3-methylglutaconic aciduria, type I, 250950 (3)
Tags
Green Green List (high evidence)
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
1 review
1 green 		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
1 review
1 green 		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
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Meester-Loeys syndrome (MIM#300989)
  • Spondyloepimetaphyseal dysplasia, X-linked (MIM#300106)
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
1 review
1 green 		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
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Retinal dystrophy with macular staphyloma, 617547 (3), Autosomal recessive
Tags
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
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Joubert syndrome 17, 614615 (3)
Tags
Green Green List (high evidence)
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)
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
2 reviews
1 green 		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
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 19, 615617 (3)
Tags
Green Green List (high evidence)
CD40
1 review
1 green 		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)
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
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • 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
1 review
1 green 		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)
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
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Alport syndrome 1, X-linked
Tags
Green Green List (high evidence)
COL6A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ullrich congenital muscular dystrophy 1, 254090 (3)
Tags
Green Green List (high evidence)
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
1 review
1 green 		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
1 review
1 green 		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
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 (3)
Tags
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
1 review
1 green 		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
0 reviews
 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
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
1 review
1 green 		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
1 review
1 green 		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
1 review
1 green 		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
0 reviews
 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
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cardiomyopathy, dilated, with woolly hair and keratoderma (MIM#605676)
  • Epidermolysis bullosa, lethal acantholytic (MIM#609638)
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
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3)
Tags
Green Green List (high evidence)
EDA
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3)
Tags
Green Green List (high evidence)
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
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Craniofrontonasal dysplasia (MIM#304110)
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)
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
1 review
1 green 		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
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Dysprothrombinaemia, 613679
  • Hypoprothrombinaemia (MIM#613679)
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)
FA2H
1 review
1 green 		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
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Yunis-Varon syndrome, MIM#216340
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)
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
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Galactosemia, 230400 (3)
Tags
Green Green List (high evidence)
GAMT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cerebral creatine deficiency syndrome 2, 612736 (3)
Tags
Green Green List (high evidence)
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)
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
1 review
1 green 		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)
GJB1
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 (MIM#302800)
Tags
Green Green List (high evidence)
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)
GLA
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Fabry disease, MIM#301500
Tags
Green Green List (high evidence)
GLB1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mucopolysaccharidosis type IVB (Morquio), 253010 (3)
Tags
Green Green List (high evidence)
GLDC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glycine encephalopathy, 605899 (3)
Tags
Green Green List (high evidence)
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
  • Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281
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)
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
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 38 (MIM#615516)
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
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hemochromatosis, type 2A, 602390 (3)
Tags
Green Green List (high evidence)
HGSNAT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3)
Tags
Green Green List (high evidence)
HIBCH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)
Tags
Green Green List (high evidence)
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
0 reviews
 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
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Tyrosinemia, type III, 276710 (3)
Tags
Green Green List (high evidence)
HPGD
1 review
1 green 		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
1 review
1 green 		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
1 review
1 green 		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
1 review
1 green 		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)
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)
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
0 reviews
 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
1 review
1 green 		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
1 review
1 green 		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
1 review
1 green 		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
  • Intellectual developmental disorder, X-linked 1 MIM#309530
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
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, 7, 614643 (3)
Tags
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
1 review
1 green 		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
2 reviews
1 green 		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)
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
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Infantile liver failure syndrome 1, MIM# 615438
Tags
Green Green List (high evidence)
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
0 reviews
 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)
LDLR
2 reviews
1 green 		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
2 reviews
2 green 		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
0 reviews
 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
0 reviews
 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
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Interstitial lung and liver disease, 615486 (3)
Tags
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)
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
2 reviews
1 green 		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
0 reviews
 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
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Methylmalonic aciduria, mut(0) type, 251000 (3)
Tags
Green Green List (high evidence)
MVK
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mevalonic aciduria, 610377 (3)
Tags
Green Green List (high evidence)
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)
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)
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
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nemaline myopathy 2, autosomal recessive (MIM#256030)
  • Arthrogryposis multiplex congenita 6 (MIM#619334)
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
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • 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
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • 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)
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
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Niemann-Pick disease, type C1, MIM#257220
Tags
Green Green List (high evidence)
NPC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Niemann-pick disease, type C2, MIM#607625
Tags
Green Green List (high evidence)
NPHP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Joubert syndrome 4, 609583 (3)
Tags
Green Green List (high evidence)
NPHP3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Meckel syndrome 7, 267010 (3)
Tags
Green Green List (high evidence)
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)
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
0 reviews
 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)
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
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neurodegeneration with brain iron accumulation 1, MIM#234200
Tags
Green Green List (high evidence)
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)
PCDH19
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 9 (MIM#300088)
Tags
Green Green List (high evidence)
PCNT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3)
Tags
Green Green List (high evidence)
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
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pyruvate dehydrogenase E1-alpha deficiency (MIM#312170)
Tags
Green Green List (high evidence)
PDHB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pyruvate dehydrogenase E1-beta deficiency, 614111 (3)
Tags
Green Green List (high evidence)
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
2 reviews
1 green 		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)
PIBF1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 33 (MIM#617767)
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
0 reviews
 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
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
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neurodegeneration with brain iron accumulation 2B MIM#610217
  • Infantile neuroaxonal dystrophy 1 MIM#256600
Tags
Green Green List (high evidence)
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
2 reviews
1 green 		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
0 reviews
 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
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epilepsy, progressive myoclonic 1B, 612437 (3)
Tags
  • for review
Green Green List (high evidence)
PRKRA
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Dystonia 16, MIM#612067
Tags
Green Green List (high evidence)
PROC
2 reviews
1 green 		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
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 (3)
Tags
Green Green List (high evidence)
QDPR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, C, 261630 (3)
Tags
Green Green List (high evidence)
RAB18
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Warburg micro syndrome 3, 614222 (3)
Tags
Green Green List (high evidence)
RAB23
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Carpenter syndrome, 201000 (3)
Tags
Green Green List (high evidence)
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
1 review
1 green 		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
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukodystrophy, hypomyelinating, 9, 616140 (3)
Tags
Green Green List (high evidence)
RARS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pontocerebellar hypoplasia, type 6, 611523 (3)
Tags
Green Green List (high evidence)
RAX
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microphthalmia, isolated 3, 611038 (3)
Tags
Green Green List (high evidence)
RBBP8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Seckel syndrome 2, 606744 (3)
Tags
Green Green List (high evidence)
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)
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)
RPL10
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Intellectual developmental disorder, X-linked, syndromic, 35, MIM300998
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
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000
  • Central core disease, MIM# 117000
Tags
Green Green List (high evidence)
SACS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spastic ataxia, Charlevoix-Saguenay type, 270550 (3)
Tags
Green Green List (high evidence)
SAMHD1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Aicardi-Goutieres syndrome 5, 612952 (3)
Tags
Green Green List (high evidence)
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)
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)
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)
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
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (MIM#606002)
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)
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)
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
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Arthrogryposis, mental retardation, and seizures (MIM615553)
Tags
Green Green List (high evidence)
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)
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
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Troyer syndrome (MIM#275900)
  • SPG20
  • MONDO:0010156
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
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Centronuclear myopathy 5, MIM# 615959
Tags
Green Green List (high evidence)
SPG11
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spastic paraplegia 11, autosomal recessive, MIM# 604360
Tags
Green Green List (high evidence)
SPINK5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Netherton syndrome, 256500 (3)
Tags
Green Green List (high evidence)
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)
TAT
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Tyrosinemia, type II (MIM#276600)
Tags
Green Green List (high evidence)
TAZ
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Barth syndrome, 302060 (3)
Tags
Green Green List (high evidence)
TBC1D23
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pontocerebellar hypoplasia, type 11, 617695 (3), Autosomal recessive
Tags
Green Green List (high evidence)
TBC1D24
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epileptic encephalopathy, early infantile, 16, 615338 (3)
Tags
Green Green List (high evidence)
TBCD
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3), Autosomal recessive
Tags
Green Green List (high evidence)
TBCE
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Kenny-Caffey syndrome-1, 244460 (3)
Tags
Green Green List (high evidence)
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)
TECPR2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, MIM#615031
Tags
Green Green List (high evidence)
TELO2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • You-Hoover-Fong syndrome, 616954 (3), Autosomal recessive
Tags
Green Green List (high evidence)
TF
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Atransferrinemia, 209300 (3)
Tags
Green Green List (high evidence)
TGM1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 1, 242300 (3)
Tags
Green Green List (high evidence)
TH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Segawa syndrome, recessive, MIM# 605407
Tags
Green Green List (high evidence)
THOC2
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked 12/35, 300957 (3), X-linked recessive
Tags
Green Green List (high evidence)
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
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, 10, 615041 (3)
Tags
Green Green List (high evidence)
TMEM67
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Joubert syndrome 6, 610688 (3)
Tags
Green Green List (high evidence)
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)
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)
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)
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
0 reviews
 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
1 review
1 green 		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
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Crigler-Najjar syndrome, type I, 218800 (3)
Tags
Green Green List (high evidence)
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)
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
0 reviews
 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
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
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukodystrophy, hypomyelinating, 12, 616683 (3), Autosomal recessive
Tags
Green Green List (high evidence)
VPS13B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cohen syndrome, 216550 (3)
Tags
Green Green List (high evidence)
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)
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)
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
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3)
Tags
Green Green List (high evidence)
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
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3)
Tags
Green Green List (high evidence)
WDR62
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3)
Tags
Green Green List (high evidence)
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
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3)
Tags
Green Green List (high evidence)
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)
ADPRHL2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM#618170
Tags
  • new gene name
Amber Amber List (moderate evidence)
AIRE
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia (MIM#240300)
Tags
Amber Amber List (moderate evidence)
B9D1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Joubert syndrome 27, MIM# 617120
  • Meckel syndrome 9, MIM# 614209
Tags
Amber Amber List (moderate evidence)
BTD
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Biotinidase deficiency (MIM#253260)
Tags
Amber Amber List (moderate evidence)
CERKL
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Retinitis pigmentosa 26 (MIM#608380)
Tags
Amber Amber List (moderate evidence)
CNGA3
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Mackenzie's Mission
Phenotypes
  • Achromatopsia-2, 216900 (3)
Tags
Amber Amber List (moderate evidence)
COL2A1
0 reviews
 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
0 reviews
 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
0 reviews
 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)
F5
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Mackenzie's Mission
Phenotypes
  • Factor V deficiency, 227400 (3)
Tags
Amber Amber List (moderate evidence)
GBA
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Mackenzie's Mission
Phenotypes
  • Gaucher disease, perinatal lethal, 608013 (3)
Tags
Amber Amber List (moderate evidence)
IGHM
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Mackenzie's Mission
Phenotypes
  • Agammaglobulinaemia 1, 601495 (3)
Tags
Amber Amber List (moderate evidence)
IKBKG
2 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Mackenzie's Mission
Phenotypes
  • Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 (3)
Tags
Amber Amber List (moderate evidence)
MBTPS1
0 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
0 reviews
 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)
NCF1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Mackenzie's Mission
Phenotypes
  • Chronic granulomatous disease 1, autosomal recessive (MIM#233700)
Tags
Amber Amber List (moderate evidence)
NTNG2
0 reviews
 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
0 reviews
 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)
RPGR
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Mackenzie's Mission
Phenotypes
  • Retinitis pigmentosa 3 (MIM#300029)
Tags
Amber Amber List (moderate evidence)
SHOX
1 review
 Other
Sources
  • Expert Review Amber
  • Mackenzie's Mission
Phenotypes
  • Langer mesomelic dysplasia, 249700 (3)
Tags
  • SV/CNV
Amber Amber List (moderate evidence)
TMEM94
0 reviews
 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)
TTN
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Mackenzie's Mission
Phenotypes
  • Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3)
Tags
Amber Amber List (moderate evidence)
VWF
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Mackenzie's Mission
Phenotypes
  • von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3)
Tags
Amber Amber List (moderate evidence)
XPNPEP3
0 reviews
 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
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Cone-rod dystrophy 3 MIM#604116
  • Stargardt disease 1 MIM#248200
  • Retinal dystrophy, early-onset severe MIM#248200
Tags
Red Red List (low evidence)
ABCC6
0 reviews
 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
0 reviews
 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)
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)
ALG2
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228
  • Congenital disorder of glycosylation, type Ii, MIM# 607906
Tags
Red Red List (low evidence)
BCAP31
0 reviews
 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)
C6
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • C6 deficiency, 612446 (3)
Tags
Red Red List (low evidence)
C7
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • C7 deficiency, 610102 (3)
Tags
Red Red List (low evidence)
C8B
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • C8 deficiency, type II (MIM#613789)
Tags
Red Red List (low evidence)
CARD9
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 103, susceptibility to fungal infection, MIM# 212050
Tags
Red Red List (low evidence)
CBS
0 reviews
 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
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency, common variable, 6, 613496 (3)
Tags
Red Red List (low evidence)
CHM
2 reviews
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Choroideremia (MIM#303100)
Tags
Red Red List (low evidence)
CIB2
0 reviews
 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
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Congenital disorder of glycosylation, type IIi, MIM# 613612
Tags
Red Red List (low evidence)
CYP21A2
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency (MIM#201910)
Tags
Red Red List (low evidence)
DSTYK
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Spastic paraplegia 23, MIM# 270750
Tags
Red Red List (low evidence)
EMG1
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Bowen-Conradi syndrome, 211180 (3)
Tags
Red Red List (low evidence)
EYS
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Retinitis pigmentosa 25 (MIM#602772)
Tags
Red Red List (low evidence)
F11
2 reviews
1 red 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Factor XI deficiency, autosomal recessive, (MIM#612416)
Tags
Red Red List (low evidence)
F8
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Hemophilia A, 306700 (3)
Tags
  • SV/CNV
Red Red List (low evidence)
F9
2 reviews
2 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Hemophilia B, 306900 (3)
Tags
Red Red List (low evidence)
FAM161A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Retinitis pigmentosa 28, MIM #606068
Tags
Red Red List (low evidence)
FITM2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Siddiqi syndrome MIM#618635
Tags
Red Red List (low evidence)
FTCD
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Glutamate formiminotransferase deficiency (MIM#229100)
Tags
Red Red List (low evidence)
G6PD
2 reviews
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Haemolytic anaemia, G6PD deficient (favism) (MIM#300908)
Tags
Red Red List (low evidence)
GALK1
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Galactokinase deficiency with cataracts (MIM#230200)
Tags
Red Red List (low evidence)
GJB2
2 reviews
1 red 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Bart-Pumphrey syndrome, MIM#149200
  • Deafness, autosomal dominant 3A, MIM#601544
  • Deafness, autosomal recessive 1A, MIM#220290
  • Hystrix-like ichthyosis with deafness, MIM#602540
  • Keratitis-ichthyosis-deafness syndrome, MIM#148210
  • Keratoderma, palmoplantar, with deafness, MIM#148350
  • Vohwinkel syndrome, MIM# 124500
Tags
Red Red List (low evidence)
GK
2 reviews
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Glycerol kinase deficiency, 307030 (3)
Tags
Red Red List (low evidence)
GP1BA
2 reviews
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200), AR (AR BSS)
  • von Willebrand disease, platelet-type, (MIM#177820), AD (VWD)
  • MONDO:0008332
  • Bernard-Soulier syndrome, type A2 (dominant), (MIM#153670) (AD BSS)
  • MONDO:0007930
Tags
Red Red List (low evidence)
GP9
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Bernard-Soulier syndrome, type C (MIM#231200)
Tags
Red Red List (low evidence)
GRHPR
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hyperoxaluria, primary, type II (MIM#260000)
Tags
Red Red List (low evidence)
GTPBP2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Jaberi-Elahi syndrome, MIM#617988
Tags
Red Red List (low evidence)
GYS2
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Glycogen storage disease 0, liver, 240600 (3)
Tags
Red Red List (low evidence)
HBA1
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Erythrocytosis 7, MIM# 617981
  • Heinz body anemias, alpha-, MIM# 140700
  • Methemoglobinemia, alpha type , MIM#617973
  • Thalassemias, alpha-, MIM# 604131
  • Hemoglobin H disease, nondeletional, MIM# 613978
Tags
Red Red List (low evidence)
HBA2
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Erythrocytosis 7, MIM# 617981
  • Heinz body anaemia, MIM# 140700
  • Haemoglobin H disease, deletional and nondeletional, MIM# 613978
  • Thalassaemia, alpha-, MIM# 604131
Tags
Red Red List (low evidence)
HFE
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hemochromatosis (MIM#235200)
Tags
Red Red List (low evidence)
HGD
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Alkaptonuria (MIM#203500)
Tags
Red Red List (low evidence)
HOGA1
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hyperoxaluria, primary, type III (MIM#613616)
Tags
Red Red List (low evidence)
HYAL1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Mucopolysaccharidosis type IX (MIM#601492)
Tags
Red Red List (low evidence)
IGFBP7
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, MIM#614224
Tags
Red Red List (low evidence)
IMPG2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Retinitis pigmentosa 56, MIM #613801
Tags
Red Red List (low evidence)
ISCA1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613
Tags
Red Red List (low evidence)
ITGA3
0 reviews
 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)
KCNE1
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Jervell and Lange-Nielsen syndrome 2, MIM# 612347
Tags
Red Red List (low evidence)
KRT8
0 reviews
 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)
KRT85
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Ectodermal dysplasia 4, hair/nail type, 602032 (3)
Tags
Red Red List (low evidence)
LDHB
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Lactate dehydrogenase-B deficiency, MIM# 614128
Tags
Red Red List (low evidence)
LOXHD1
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Deafness, autosomal recessive 77 (MIM#613079)
Tags
Red Red List (low evidence)
MCCC1
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • 3-Methylcrotonyl-CoA carboxylase 1 deficiency (MIM#210200)
Tags
Red Red List (low evidence)
MCCC2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • 3-Methylcrotonyl-CoA carboxylase 2 deficiency (MIM#210210)
Tags
Red Red List (low evidence)
MCM4
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 54, MIM# 609981
Tags
Red Red List (low evidence)
MEFV
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Familial Mediterranean fever, AR (MIM#249100)
Tags
Red Red List (low evidence)
NDUFA11
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 14, MIM#618236
Tags
Red Red List (low evidence)
NLGN4X
2 reviews
2 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Intellectual developmental disorder, X-linked (MIM#300495)
Tags
Red Red List (low evidence)
NR2E3
2 reviews
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Enhanced S-cone syndrome (MIM#268100)
  • Retinitis pigmentosa 37 (MIM#611131)
Tags
Red Red List (low evidence)
NUP62
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Striatonigral degeneration, infantile - MIM#271930
Tags
Red Red List (low evidence)
OAT
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Gyrate atrophy of choroid and retina with or without ornithinemia (MIM#258870)
Tags
Red Red List (low evidence)
OCA2
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Albinism, oculocutaneous, type II (MIM#203200)
Tags
Red Red List (low evidence)
OPN1LW
0 reviews
 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
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Retinitis pigmentosa-40, MIM #613801
Tags
Red Red List (low evidence)
PIP5K1C
0 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
0 reviews
 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
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • OMIM #618342
  • Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
Tags
Red Red List (low evidence)
PYGM
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • McArdle disease (MIM#232600)
Tags
Red Red List (low evidence)
RS1
2 reviews
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Retinoschisis (MIM#312700)
Tags
Red Red List (low evidence)
SAMD9
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Tumoral calcinosis, familial, normophosphatemic, 610455 (3)
Tags
Red Red List (low evidence)
SEC23A
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Craniolenticulosutural dysplasia (MIM# 607812)
Tags
Red Red List (low evidence)
SEMA4A
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Cone-rod dystrophy 10, 610283
  • Retinitis pigmentosa 35, 610282
Tags
Red Red List (low evidence)
SERPINA1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Emphysema-cirrhosis, due to AAT deficiency, 613490 (3)
Tags
Red Red List (low evidence)
SGO1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Chronic atrial and intestinal dysrhythmia, 616201 (3)
Tags
  • founder
Red Red List (low evidence)
SLC12A3
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Gitelman syndrome (MIM#263800)
Tags
Red Red List (low evidence)
SLC26A4
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Deafness, autosomal recessive 4, with enlarged vestibular aqueduct (MIM#600791)
  • Pendred syndrome (MIM#274600)
Tags
Red Red List (low evidence)
SLC4A11
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Corneal dystrophy, Fuchs endothelial, 4, MIM# 613268
  • Corneal endothelial dystrophy and perceptive deafness, MIM# 217400
  • Corneal endothelial dystrophy, autosomal recessive, MIM# 217700
Tags
Red Red List (low evidence)
SNORD118
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Leukoencephalopathy, brain calcifications, and cysts, 614561 (3), Autosomal recessive
Tags
Red Red List (low evidence)
TBC1D20
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Martsolf syndrome
  • Warburg micro syndrome 4, MIM# 615663
Tags
Red Red List (low evidence)
TBX22
0 reviews
 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)
TFR2
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Haemochromatosis, type 3, MIM#604250
Tags
Red Red List (low evidence)
TNFRSF13B
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency, common variable, 2, 240500 (3)
Tags
Red Red List (low evidence)
TP53RK
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Galloway-Mowat syndrome 4, MIM# 617730
Tags
Red Red List (low evidence)
TPRKB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Galloway-Mowat syndrome 5, MIM# 617731
Tags
Red Red List (low evidence)
TRAC
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 7, TCR-alpha/beta deficient, 615387 (3)
Tags
Red Red List (low evidence)
TRAPPC12
0 reviews
 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
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862
Tags
Red Red List (low evidence)
TSPAN7
2 reviews
2 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266
Tags
  • disputed
Red Red List (low evidence)
TSPYL1
0 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
0 reviews
 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
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Beta-ureidopropionase deficiency, MIM #613161
Tags
Red Red List (low evidence)
UQCRC2
0 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)
UQCRQ
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 4, 615159 (3)
Tags
Red Red List (low evidence)
VPS13A
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Choreoacanthocytosis, 200150 (3)
Tags
Red Red List (low evidence)
VPS37A
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Spastic paraplegia 53, autosomal recessive, 614898 (3)
Tags
Red Red List (low evidence)
WNT10A
1 review
1 red 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Odontoonychodermal dysplasia 257980 AR
  • Schopf-Schulz-Passarge syndrome 224750 AR
  • Tooth agenesis, selective, 4 150400 AR, AD
Tags
Red Red List (low evidence)
YIF1B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Abnormality of movement
  • Seizures
  • Failure to thrive
  • Spasticity
  • Central hypotonia
  • Intellectual disability
  • Global developmental delay
  • Microcephaly
Tags
Red Red List (low evidence)
ZNF469
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Brittle cornea syndrome 1, MIM #229200
Tags
No list No list
AMN
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Imerslund-Grasbeck syndrome 2 (MIM#618882)
Tags
No list No list
BRIP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Fanconi Anaemia
Tags
No list No list
PIEZO1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Lymphatic malformation 6, MIM#616843
Tags
No list No list
SCN1B
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 52, MIM#617350
Tags

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