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.

22 reviewers

  • Alison Yeung (Victorian Clinical Genetics Services)

  • Himanshu Goel (Hunter Genetics)

  • Lauren Rogers (Victorian Clinical Genetics Services)

  • Clare Hunt (Victorian Clinical Genetics Services)

  • Lisa Norbart (Victorian Clinical Genetics Services)

  • Michelle Torres (Victorian Clinical Genetics Services)

  • Lilian Downie (Victorian Clinical Genetics Services)

  • Crystle Lee (Victorian Clinical Genetics Services)

  • Ee Ming Wong (Victorian Clinical Genetics Services)

  • Lucy Spencer (Victorian Clinical Genetics Services)

  • Melanie Marty (Victorian Clinical Genetics Services)

  • Karina Sandoval (Victorian Clinical Genetics Services)

  • Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

  • Santosh Varughese (University of Melbourne)

  • Andrew Coventry (Victorian Clinical Genetics Services)

  • Lana Giameos (Victorian Clinical Genetics Services)

  • Krithika Murali (Victorian Clinical Genetics Services)

  • Shakira Heerah (Victorian Clinical Genetics Services)

  • Kate Scarff (Victorian Clinical Genetics Services)

  • Cassandra Muller (Victorian Clinical Genetics Services)

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

  • Lauren Thomas (VIctorian Clinical Genetics Services)

1380 Entities

1221 reviewed, 1247 green

List Entity Reviews Mode of inheritance Details
1380 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
1 review
1 green
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cholestasis, progressive familial intrahepatic 3 MIM#602347
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, MIM# 301310
Tags
Green Green List (high evidence)
ABCC8
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Diabetes mellitus, permanent neonatal 3, with or without neurologic features MIM#618857
  • Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450
Tags
Green Green List (high evidence)
ABCD1
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • 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, MIM#275630
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM #201450
Tags
Green Green List (high evidence)
ACADVL
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Alpha-methylacetoacetic aciduria, MIM#203750
Tags
Green Green List (high evidence)
ACE
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Renal tubular dysgenesis, 267430 (3)
Tags
Green Green List (high evidence)
ACO2
1 review
1 green
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
1 review
1 green
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Severe combined immunodeficiency due to ADA deficiency MIM#102700
  • Adenosine deaminase deficiency, partial MIM#102700
Tags
Green Green List (high evidence)
ADA2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688
Tags
Green Green List (high evidence)
ADAMTS13
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Thrombotic thrombocytopenic purpura, hereditary, MIM#274150
Tags
Green Green List (high evidence)
ADAMTS2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410)
Tags
Green Green List (high evidence)
ADAMTSL2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Geleophysic dysplasia 1, 231050 (3)
Tags
Green Green List (high evidence)
ADAR
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, MIM#615286
Tags
Green Green List (high evidence)
ADGRG1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Polymicrogyria, bilateral frontoparietal, MIM#606854
Tags
Green Green List (high evidence)
ADGRV1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Usher syndrome, type 2C, MIM# 605472
Tags
Green Green List (high evidence)
ADSL
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Adenylosuccinase deficiency, 103050 (3)
Tags
Green Green List (high evidence)
AGA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Aspartylglucosaminuria, 208400 (3)
Tags
Green Green List (high evidence)
AGBL5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Retinitis pigmentosa 75, 617023
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Rhizomelic chondrodysplasia punctata, type 3, MIM# 600121
Tags
Green Green List (high evidence)
AGRN
1 review
1 green
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Joubert syndrome 3 MIM#608629
Tags
Green Green List (high evidence)
AIFM1
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Combined oxidative phosphorylation deficiency 6, MIM#300816
Tags
Green Green List (high evidence)
AIMP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukodystrophy, hypomyelinating, 3, 260600 (3)
Tags
Green Green List (high evidence)
AIPL1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leber congenital amaurosis 4, 604393
  • Cone-rod dystrophy, 604393
  • Retinitis pigmentosa, juvenile, 604393
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 MIM# 267500
Tags
Green Green List (high evidence)
AKR1D1
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Porphyria, acute hepatic, 612740 (3)
Tags
Green Green List (high evidence)
ALDH18A1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cutis laxa, autosomal recessive, type IIIA (MIM#219150)
  • Spastic paraplegia 9B, autosomal recessive (MIM#616586)
Tags
Green Green List (high evidence)
ALDH1A3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microphthalmia, isolated 8, 615113 (3)
Tags
Green Green List (high evidence)
ALDH3A2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Sjogren-Larsson syndrome (MIM#270200)
Tags
Green Green List (high evidence)
ALDH5A1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Tags
Green Green List (high evidence)
ALDH7A1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epilepsy, early-onset, 4, vitamin B6-dependent MIM #266100
Tags
Green Green List (high evidence)
ALDOB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Fructose intolerance, hereditary, MIM# 229600
Tags
Green Green List (high evidence)
ALG1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital disorder of glycosylation, type Ik, MIM# 608540
Tags
Green Green List (high evidence)
ALG11
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital disorder of glycosylation, type Ip, 613661 (3)
Tags
Green Green List (high evidence)
ALG12
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital disorder of glycosylation, type Ig MIM# 607143
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital disorder of glycosylation, type Ic (MIM#603147)
Tags
Green Green List (high evidence)
ALG8
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital disorder of glycosylation, type Ih, 608104 (3)
Tags
Green Green List (high evidence)
ALG9
1 review
1 green
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, MIM# 203800
Tags
Green Green List (high evidence)
ALOX12B
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 2, MIM# 242100
Tags
Green Green List (high evidence)
ALOXE3
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 3 (MIM#606545)
Tags
Green Green List (high evidence)
ALPL
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hypophosphatasia, childhood (MIM#241510)
  • Hypophosphatasia, infantile (MIM#241500)
Tags
Green Green List (high evidence)
ALS2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • ALS2-related motor neuron disease (MONDO:0100227)
Tags
Green Green List (high evidence)
AMPD2
1 review
1 green
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
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glycine encephalopathy, 605899 (3)
Tags
Green Green List (high evidence)
ANKS6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nephronophthisis 16 MIM#615382
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 (MIM#230740)
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, MIM# 228600
  • MONDO:0009229
Tags
Green Green List (high evidence)
AP1S2
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pettigrew syndrome, MIM# 304340
Tags
Green Green List (high evidence)
AP3B2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Developmental and epileptic encephalopathy 48 MIM#617276
Tags
Green Green List (high evidence)
AP4B1
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex IV deficiency, MIM#220110
Tags
  • new gene name
Green Green List (high evidence)
APTX
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920
Tags
Green Green List (high evidence)
AQP2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Diabetes insipidus, nephrogenic, type 2 MIM# 125800
Tags
Green Green List (high evidence)
ARFGEF2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Periventricular heterotopia with microcephaly, MIM#608097
Tags
Green Green List (high evidence)
ARG1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Argininemia MIM# 207800
Tags
Green Green List (high evidence)
ARHGEF9
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Developmental and epileptic encephalopathy 8, MIM# 300607
Tags
  • SV/CNV
Green Green List (high evidence)
ARL13B
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Joubert syndrome 8, 612291 (3)
Tags
Green Green List (high evidence)
ARL6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bardet-Biedl syndrome 3, MIM# 600151
Tags
Green Green List (high evidence)
ARMC4
2 reviews
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia MIM#617718
Tags
Green Green List (high evidence)
ARSA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Metachromatic leukodystrophy, 250100 (3)
Tags
Green Green List (high evidence)
ARSB
1 review
1 green
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
2 reviews
1 green
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
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Developmental and epileptic encephalopathy 1, MIM#30835
  • Hydranencephaly with abnormal genitalia, MIM#300215
  • Intellectual developmental disorder, X-linked 29, MIM#300419
  • Lissencephaly, X-linked 2, MIM#300215
  • Partington syndrome, MIM#309510
  • Proud syndrome, MIM#300004
Tags
Green Green List (high evidence)
ASAH1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spinal muscular atrophy with progressive myoclonic epilepsy, MIM#159950
  • Farber lipogranulomatosis, MIM#228000
Tags
Green Green List (high evidence)
ASCC1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spinal muscular atrophy with congenital bone fractures 2, MIM#616867
  • spinal muscular atrophy with congenital bone fractures 2 MONDO:0014807
Tags
Green Green List (high evidence)
ASL
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Argininosuccinic aciduria, 207900 (3)
Tags
Green Green List (high evidence)
ASNS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Asparagine synthetase deficiency, MIM#615574
Tags
Green Green List (high evidence)
ASPA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Canavan disease, 271900 (3)
Tags
Green Green List (high evidence)
ASPM
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly 5, primary, autosomal recessive (MIM#608716)
Tags
Green Green List (high evidence)
ASS1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Citrullinaemia MIM# 215700
Tags
Green Green List (high evidence)
ATAD1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hyperekplexia 4, MIM#618011
Tags
Green Green List (high evidence)
ATCAY
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Achromatopsia 7, MIM# 616517
Tags
Green Green List (high evidence)
ATM
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ataxia-telangiectasia, 208900 (3)
Tags
Green Green List (high evidence)
ATOH7
1 review
1 green
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
3 reviews
2 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
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 47, MIM#300972
Tags
Green Green List (high evidence)
ATP6V0A2
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Distal renal tubular acidosis 3, with or without sensorineural hearing loss MIM#602722
Tags
Green Green List (high evidence)
ATP6V1B1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300
Tags
Green Green List (high evidence)
ATP7A
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Menkes disease(MIM#309400)
  • Occipital horn syndrome(MIM#304150)
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 (MIM#615268)
Tags
Green Green List (high evidence)
ATP8B1
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Seckel syndrome 1(MIM#210600)
Tags
Green Green List (high evidence)
ATRX
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • ATR-X-related syndrome MONDO:0016980
Tags
Green Green List (high evidence)
AUH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • 3-methylglutaconic aciduria, type I, MIM# 250950
  • MONDO:0009610
Tags
Green Green List (high evidence)
B3GALNT2
2 reviews
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Al-Gazali syndrome, MIM# 609465
  • Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM# 615349
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM#271640
Tags
Green Green List (high evidence)
B3GAT3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600 (3)
Tags
Green Green List (high evidence)
B3GLCT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Peters-plus syndrome, MIM# 261540
Tags
Green Green List (high evidence)
B4GALNT1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spastic paraplegia 26, MIM# 609195
Tags
Green Green List (high evidence)
B4GALT7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070
  • MONDO:0020682
Tags
Green Green List (high evidence)
BBS1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bardet-Biedl syndrome 1, MIM# 209900
Tags
Green Green List (high evidence)
BBS10
1 review
1 green
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
2 reviews
2 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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bardet-Biedl syndrome 2, MIM# 615981
Tags
Green Green List (high evidence)
BBS4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bardet-Biedl syndrome 4, MIM#615982
Tags
Green Green List (high evidence)
BBS5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bardet-Biedl syndrome 5, MIM#615983
Tags
Green Green List (high evidence)
BBS7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bardet-Biedl syndrome 7, MIM# 615984
  • MONDO:0014435
Tags
Green Green List (high evidence)
BBS9
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bardet-Biedl syndrome 9 MIM#615986
Tags
Green Green List (high evidence)
BCKDHA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Maple syrup urine disease, type Ia, MIM# 248600
Tags
Green Green List (high evidence)
BCKDHB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Maple syrup urine disease, type Ib 620698
Tags
Green Green List (high evidence)
BCKDK
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • GRACILE syndrome, MIM#603358
  • Mitochondrial complex III deficiency, nuclear type 1, MIM#124000
Tags
Green Green List (high evidence)
BGN
3 reviews
2 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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Centronuclear myopathy 2, MIM# 255200
Tags
Green Green List (high evidence)
BLM
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bloom Syndrome MIM# 210900
Tags
Green Green List (high evidence)
BMPER
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Diaphanospondylodysostosis, 608022 (3)
Tags
Green Green List (high evidence)
BMPR1B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Acromesomelic dysplasia 3, MIM# 609441
Tags
Green Green List (high evidence)
BOLA3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia MIM#614299
Tags
Green Green List (high evidence)
BRAT1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Rigidity and multifocal seizure syndrome, lethal neonatal, MIM#614498
  • Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056
Tags
Green Green List (high evidence)
BRF1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cerebellofaciodental syndrome, MIM# 616202
  • Cerebellar-facial-dental syndrome MONDO:0014529
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Encephalopathy, progressive, with or without lipodystrophy (MIM#615924)
  • Lipodystrophy, congenital generalized, type 2 (MIM#269700)
Tags
Green Green List (high evidence)
BSND
1 review
1 green
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
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Agammaglobulinemia, X-linked 1 MIM#300755
  • Bruton-type agammaglobulinemia MONDO:0010421
  • Isolated growth hormone deficiency, type III, with agammaglobulinemia MIM#307200 MONDO:0010615
Tags
Green Green List (high evidence)
BUB1B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mosaic variegated aneuploidy syndrome 1, MIM# 257300
Tags
Green Green List (high evidence)
C12orf57
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Temtamy syndrome, MIM # 218340
Tags
  • founder
Green Green List (high evidence)
C12orf65
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Combined oxidative phosphorylation deficiency 7, MIM# 613559
  • Spastic paraplegia 55, autosomal recessive, MIM#615035
Tags
  • new gene name
Green Green List (high evidence)
C19orf12
1 review
1 green
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
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • C1q deficiency, 613652 (3)
Tags
Green Green List (high evidence)
C1QB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • C1q deficiency, MIM# 613652
Tags
Green Green List (high evidence)
C1QC
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • C1q deficiency, MIM# 613652
Tags
Green Green List (high evidence)
C21orf2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Retinal dystrophy with macular staphyloma MIM#617547
  • Spondylometaphyseal dysplasia, axial MIM#602271
Tags
Green Green List (high evidence)
C2CD3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Orofaciodigital syndrome XIV, MIM# 615948
  • MONDO:0014413
Tags
Green Green List (high evidence)
C3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • C3 deficiency, MIM#613779
Tags
Green Green List (high evidence)
C5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • C5 deficiency, 609536 (3)
Tags
Green Green List (high evidence)
C5orf42
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Joubert syndrome 17, MIM# 614615
  • Orofaciodigital syndrome VI, MIM# 277170
Tags
  • new gene name
Green Green List (high evidence)
C8orf37
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cone-rod dystrophy 16, Retinitis pigmentosa 64 MIM#614500
Tags
Green Green List (high evidence)
CA2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730
Tags
Green Green List (high evidence)
CABP4
2 reviews
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Desbuquois dysplasia 1, MIM# 251450
  • Epiphyseal dysplasia, multiple, 7, MIM# 617719
Tags
Green Green List (high evidence)
CAPN3
1 review
1 green
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
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 11, 615206 (3)
Tags
Green Green List (high evidence)
CARS2
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hyperparathyroidism, neonatal MIM#239200
Tags
Green Green List (high evidence)
CAVIN1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lipodystrophy, congenital generalized, type 4, MIM# 613327
  • MONDO:0013225
Tags
Green Green List (high evidence)
CC2D1A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 3, MIM# 608443
Tags
Green Green List (high evidence)
CC2D2A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • COACH syndrome, MIM#216360
  • Joubert syndrome 9, MIM#612285
  • Meckel syndrome 6, MIM#612284
  • Retinitis pigmentosa 93, MIM# 619845
Tags
Green Green List (high evidence)
CCBE1
1 review
1 green
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
1 review
1 green
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital disorder of glycosylation, type IIo, MIM#616828
Tags
Green Green List (high evidence)
CCDC39
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 15 MIM#613808
Tags
Green Green List (high evidence)
CCDC8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • 3-M syndrome 3, 614205 (3)
Tags
  • for review
Green Green List (high evidence)
CCDC88C
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hydrocephalus, congenital, 1 MIM#236600
Tags
Green Green List (high evidence)
CCNO
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary diskinesia, primary, 29, MIM#615872
Tags
Green Green List (high evidence)
CD27
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lymphoproliferative syndrome 2, MIM# 615122
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, severe combined MIM# 615617
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
1 review
1 green
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Meier-Gorlin syndrome 7, 617063
Tags
Green Green List (high evidence)
CDH11
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Elsahy-Waters syndrome MIM#211380
Tags
Green Green List (high evidence)
CDH23
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Usher syndrome, type 1D (MIM#601067)
Tags
Green Green List (high evidence)
CDH3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280
  • Hypotrichosis, congenital, with juvenile macular dystrophy, MIM# 601553
Tags
Green Green List (high evidence)
CDK10
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly 3, primary, autosomal recessive, MIM#604804
Tags
Green Green List (high evidence)
CDT1
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly 6, primary MIM#608393
  • Seckel syndrome 4 MIM#613676
Tags
Green Green List (high evidence)
CEP120
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Joubert syndrome 31, MIM# 617761
  • Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Tags
Green Green List (high evidence)
CEP152
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly 9, primary, autosomal recessive, MIM# 614852
  • MONDO:0013923
  • Seckel syndrome 5, MIM# 613823
  • MONDO:0013443
Tags
Green Green List (high evidence)
CEP290
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Joubert syndrome 5, 610188 (3)
Tags
Green Green List (high evidence)
CEP41
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Joubert syndrome 15, MIM# 614464
Tags
Green Green List (high evidence)
CEP78
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cone-rod dystrophy and hearing loss, MIM#617236
Tags
Green Green List (high evidence)
CERS3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 9, MIM# 615023
  • MONDO:0014010
Tags
Green Green List (high evidence)
CFD
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Complement factor D deficiency, MIM# 613912
Tags
Green Green List (high evidence)
CFH
2 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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Complement factor I deficiency, MIM#610984
Tags
Green Green List (high evidence)
CFL2
1 review
1 green
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cystic fibrosis, MIM#219700
  • MONDO:0009061
Tags
Green Green List (high evidence)
CHAT
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy, congenital, megaconial type, MIM#602541
Tags
Green Green List (high evidence)
CHRNA1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Multiple pterygium syndrome, lethal type, MIM#253290
  • Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930
  • Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930
Tags
Green Green List (high evidence)
CHRND
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Multiple pterygium syndrome, lethal type MIM#253290
  • Myasthenic syndrome, congenital, 3B, fast-channel MIM#616322
Tags
Green Green List (high evidence)
CHRNE
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myasthenic syndrome, congenital, 4A, slow-channel MIM#605809
  • Myasthenic syndrome, congenital, 4B, fast-channel MIM#616324
  • Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency MIM#608931
Tags
Green Green List (high evidence)
CHRNG
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Escobar syndrome (MIM# 265000)
  • Multiple pterygium syndrome, lethal type, (MIM# 253290)
Tags
Green Green List (high evidence)
CHST14
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ehlers-Danlos syndrome, musculocontractural type 1, MIM#601776
Tags
Green Green List (high evidence)
CHST3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3)
Tags
Green Green List (high evidence)
CHSY1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Temtamy preaxial brachydactyly syndrome, MIM# 605282
Tags
Green Green List (high evidence)
CIITA
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Wolfram syndrome 2 MIM#604928
  • MONDO:0011502
Tags
Green Green List (high evidence)
CIT
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Filippi syndrome, MIM#272440
Tags
Green Green List (high evidence)
CLCF1
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukoencephalopathy with ataxia MIM#615651
  • leukoencephalopathy with mild cerebellar ataxia and white matter oedema MONDO:0014292
Tags
Green Green List (high evidence)
CLCN4
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Raynaud-Claes syndrome, MIM #300114
Tags
Green Green List (high evidence)
CLCN5
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Dent disease, MIM#300009
Tags
Green Green List (high evidence)
CLCN7
1 review
1 green
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
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bartter syndrome, type 4b, digenic, 613090 (3)
Tags
  • for review
Green Green List (high evidence)
CLDN1
1 review
1 green
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
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • HELIX syndrome, MIM#617671
Tags
Green Green List (high evidence)
CLDN19
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hypomagnesaemia 5, renal, with ocular involvement, MIM#248190
Tags
Green Green List (high evidence)
CLMP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital short bowel syndrome , MIM#615237
Tags
Green Green List (high evidence)
CLN3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 3, MIM# 204200
  • MONDO:0008767
Tags
  • SV/CNV
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, MIM# 256731
  • MONDO:0009745
Tags
Green Green List (high evidence)
CLN6
1 review
1 green
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • 3-methylglutaconic aciduria, type VIIB, autosomal recessive (MIM#616271)
Tags
Green Green List (high evidence)
CLPP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Perrault syndrome 3, 614129 (3)
Tags
Green Green List (high evidence)
CLRN1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Usher syndrome, type 3A (MIM#276902)
Tags
Green Green List (high evidence)
CNGB3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Macular degeneration, juvenile, 248200 (3)
Tags
  • SV/CNV
Green Green List (high evidence)
CNNM4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Jalili syndrome, 217080 (3)
Tags
Green Green List (high evidence)
CNTNAP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lethal congenital contracture syndrome 7, MIM # 616286
  • Hypomyelinating neuropathy, congenital, 3, MIM # 618186
Tags
Green Green List (high evidence)
CNTNAP2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pitt-Hopkins like syndrome 1 MIM#610042
Tags
Green Green List (high evidence)
COG6
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital disorder of glycosylation, type IIe, MIM # 608779
Tags
Green Green List (high evidence)
COL11A1
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epidermolysis bullosa, junctional 4, intermediate, MIM# 619787
Tags
Green Green List (high evidence)
COL18A1
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Steel Syndrome, MIM#615155
Tags
Green Green List (high evidence)
COL4A3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Alport syndrome 3b, autosomal recessive MIM#620536
  • MONDO:0957811
Tags
Green Green List (high evidence)
COL4A4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Alport syndrome, autosomal recessive, 203780 (3)
Tags
Green Green List (high evidence)
COL4A5
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Alport syndrome 1, X-linked, MIM#301050
Tags
Green Green List (high evidence)
COL6A1
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bethlem myopathy 1B, MIM# 620725
  • Ullrich congenital muscular dystrophy 1B, MIM# 620727
Tags
Green Green List (high evidence)
COL6A3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ullrich congenital muscular dystrophy 1, MIM#254090
Tags
Green Green List (high evidence)
COL7A1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epidermolysis bullosa dystrophica, MIM#226600
Tags
Green Green List (high evidence)
COLEC11
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • 3MC syndrome 2, MIM# 265050
  • MONDO:0009927
Tags
Green Green List (high evidence)
COLQ
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myasthenic syndrome, congenital, 5 MIM#603034
  • MONDO:0011281
Tags
Green Green List (high evidence)
COQ2
1 review
1 green
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
1 review
1 green
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
1 review
1 green
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
1 review
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 3, MIM# 619046
Tags
Green Green List (high evidence)
COX15
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 6, MIM #615119
Tags
Green Green List (high evidence)
COX20
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 11, MIM#619054
Tags
Green Green List (high evidence)
CPS1
1 review
1 green
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • CPT II deficiency, infantile MIM#600649
  • CPT II deficiency, lethal neonatal MIM#608836
  • CPT II deficiency, myopathic, stress-induced MIM#255110
Tags
Green Green List (high evidence)
CRB1
2 reviews
2 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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ventriculomegaly with cystic kidney disease, MIM# 219730
  • MONDO:0009063
  • Focal segmental glomerulosclerosis 9, MIM# 616220
  • MONDO:0014539
Tags
Green Green List (high evidence)
CRLF1
1 review
1 green
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
1 review
1 green
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
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 (3)
Tags
  • for review
Green Green List (high evidence)
CTC1
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cystinosis, nephropathic MIM#219800
  • Cystinosis, late-onset juvenile or adolescent nephropathic MIM#219900
  • Cystinosis, atypical nephropathic MIM#219800
Tags
  • SV/CNV
Green Green List (high evidence)
CTPS1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 24, 615897 (3)
Tags
  • founder
Green Green List (high evidence)
CTSA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Galactosialidosis MIM#256540
Tags
Green Green List (high evidence)
CTSC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Haim-Munk syndrome MIM#245010
  • Papillon-Lefevre syndrome MIM#245000
Tags
Green Green List (high evidence)
CTSD
2 reviews
2 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
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 (3)
Tags
  • for review
Green Green List (high evidence)
CTSK
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pycnodysostosis, 265800 (3)
Tags
Green Green List (high evidence)
CUL4B
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Intellectual developmental disorder, X-linked syndromic, Cabezas type, MIM#300354
Tags
Green Green List (high evidence)
CUL7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • 3-M syndrome 1, MIM#273750
Tags
Green Green List (high evidence)
CWC27
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410
Tags
Green Green List (high evidence)
CYB5R3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Methemoglobinaemia, type II (MIM# 250800)
Tags
Green Green List (high evidence)
CYBA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Chronic granulomatous disease 4 MIM#233690
Tags
Green Green List (high evidence)
CYBB
1 review
1 green
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hypoaldosteronism, congenital, due to CMO I deficiency, MIM#203400
Tags
Green Green List (high evidence)
CYP17A1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • 17-alpha-hydroxylase/17,20-lyase deficiency MIM#202110
Tags
Green Green List (high evidence)
CYP1B1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, MIM#231300
  • Anterior segment dysgenesis 6, multiple subtypes, MIM#617315
Tags
Green Green List (high evidence)
CYP27A1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cerebrotendinous xanthomatosis, 213700 (3)
Tags
Green Green List (high evidence)
CYP2U1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spastic paraplegia 56, autosomal recessive MIM#615030
Tags
Green Green List (high evidence)
CYP4F22
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 5, MIM#604777
Tags
Green Green List (high evidence)
CYP7B1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bile acid synthesis defect, congenital, 3, 613812 (3)
  • Spastic paraplegia 5A, 270800 (3)
Tags
Green Green List (high evidence)
D2HGDH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • D-2-hydroxyglutaric aciduria, MIM#600721
Tags
Green Green List (high evidence)
DARS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 (3)
Tags
Green Green List (high evidence)
DARS2
1 review
1 green
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
2 reviews
2 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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Woodhouse-Sakati syndrome MIM#241080
Tags
Green Green List (high evidence)
DCDC2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nephronophthisis 19, MIM #616217
  • Sclerosing cholangitis, neonatal, MIM #617394
Tags
Green Green List (high evidence)
DCHS1
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Severe combined immunodeficiency, Athabascan type, MIM# 602450
  • Omenn syndrome, MIM# 603554
Tags
Green Green List (high evidence)
DCX
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lissencephaly, X-linked MIM#300067
  • Subcortical laminal heterotopia, X-linked MIM#300067
Tags
Green Green List (high evidence)
DDC
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Aromatic L-amino acid decarboxylase deficiency 608643
  • Aromatic L-amino acid decarboxylase deficiency (MIM#608643)
Tags
Green Green List (high evidence)
DDHD2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spastic paraplegia 54, autosomal recessive, MIM#615033
Tags
Green Green List (high evidence)
DDR2
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Warsaw breakage syndrome, MIM#613398
Tags
Green Green List (high evidence)
DDX59
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Orofaciodigital syndrome V, 174300 (3)
Tags
Green Green List (high evidence)
DENND5A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epileptic encephalopathy, early infantile, 49, MIM# 617281
Tags
Green Green List (high evidence)
DGAT1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Diarrhoea 7, protein-losing enteropathy type, MIM# 615863
  • congenital diarrhoea 7 with exudative enteropathy MONDO:0014375
Tags
Green Green List (high evidence)
DGKE
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nephrotic syndrome, type 7, MIM# 615008
Tags
Green Green List (high evidence)
DGUOK
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM#251880
Tags
Green Green List (high evidence)
DHCR24
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Desmosterolosis, 602398 (3)
Tags
Green Green List (high evidence)
DHCR7
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Retinitis pigmentosa 59, MIM#613861
  • Congenital disorder of glycosylation, type 1bb, MIM# 613861
Tags
Green Green List (high evidence)
DHODH
1 review
1 green
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 MIM# 267000
Tags
Green Green List (high evidence)
DKC1
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Dyskeratosis congenita, X-linked MIM#305000
Tags
Green Green List (high evidence)
DLD
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Dihydrolipoamide dehydrogenase deficiency, 246900 (3)
Tags
Green Green List (high evidence)
DLG3
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Intellectual developmental disorder, X-linked 90 MIM#300850
Tags
Green Green List (high evidence)
DLL3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300
  • MONDO:0020692
Tags
Green Green List (high evidence)
DMD
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Becker muscular dystrophy MIM#300376
  • Duchenne muscular dystrophy MIM#310200
Tags
  • SV/CNV
Green Green List (high evidence)
DNAAF1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 13, MIM# 613193
Tags
Green Green List (high evidence)
DNAAF3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 2, MIM#606763
Tags
Green Green List (high evidence)
DNAAF4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 25, 615482 (3)
Tags
Green Green List (high evidence)
DNAAF5
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM#244400
Tags
Green Green List (high evidence)
DNAI2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM#612444
Tags
Green Green List (high evidence)
DNAJC12
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384
Tags
Green Green List (high evidence)
DNAJC19
1 review
1 green
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
1 review
1 green
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
1 review
1 green
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
1 review
1 green
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hyper-IgE recurrent infection syndrome, autosomal recessive, MIM#243700
Tags
Green Green List (high evidence)
DOK7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myasthenic syndrome, congenital, 10, MIM# 254300
  • Fetal akinesia deformation sequence 3, MIM# 618389
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly-micromelia syndrome (MIM#251230)
  • Microcephaly, short stature, and limb abnormalities (MIM#617604)
Tags
Green Green List (high evidence)
DPAGT1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital disorder of glycosylation, type Ij, MIM# 608093
  • DPAGT1-CDG MONDO:0011964
  • Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM 614750
Tags
Green Green List (high evidence)
DPH1
1 review
1 green
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Dyggve-Melchior-Clausen disease MIM#223800
  • Smith-McCort dysplasia MIM#607326
Tags
Green Green List (high evidence)
DYNC2H1
1 review
1 green
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
1 review
1 green
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
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Miyoshi muscular dystrophy 1 MIM#254130
  • MONDO:0024545
  • Muscular dystrophy, limb-girdle, autosomal recessive 2 MIM#253601
  • MONDO:0009676
  • Myopathy, distal, with anterior tibial onset MIM#606768
  • MONDO:0011721
Tags
Green Green List (high evidence)
EARS2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Combined oxidative phosphorylation deficiency 12 MIM#614924
Tags
Green Green List (high evidence)
ECEL1
1 review
1 green
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
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100
Tags
Green Green List (high evidence)
EDAR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619
Tags
Green Green List (high evidence)
EFEMP2
1 review
1 green
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
3 reviews
2 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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Wolcott-Rallison syndrome MIM#226980
Tags
Green Green List (high evidence)
EIF2AK4
1 review
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure MIM#603896
Tags
Green Green List (high evidence)
EIF2B2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure, MIM #620312
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
1 review
1 green
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
1 review
1 green
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
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • MEHMO syndrome, MIM# 300148
Tags
Green Green List (high evidence)
ELAC2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Combined oxidative phosphorylation deficiency 17, MIM#615440
Tags
Green Green List (high evidence)
ELP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Dysautonomia, familial MIM#223900
  • Hereditary sensory and autonomic neuropathy type III (HSAN3)
Tags
Green Green List (high evidence)
ELP2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 58, MIM# 617270
Tags
Green Green List (high evidence)
EMD
1 review
1 green
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, MIM# 310300
Tags
Green Green List (high evidence)
EML1
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Arterial calcification, generalized, of infancy, 1 MIM#208000
  • Hypophosphatemic rickets, autosomal recessive, 2 MIM#613312
Tags
Green Green List (high evidence)
EOGT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Adams-Oliver syndrome 4, MIM#615297
Tags
Green Green List (high evidence)
EPCAM
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Vici syndrome MIM# 242840
Tags
Green Green List (high evidence)
EPM2A
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cerebrooculofacioskeletal syndrome 2, MIM# 610756
  • Trichothiodystrophy 1, photosensitive, MIM# 601675
  • Xeroderma pigmentosum, group D, MIM# 278730
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cockayne spectrum with or without cerebrooculofacioskeletal syndrome MONDO:0100506
Tags
Green Green List (high evidence)
ERCC6L2
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cockayne syndrome, type A, MIM#216400
Tags
Green Green List (high evidence)
ESCO2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Juberg-Hayward syndrome (MIM#216100)
  • Roberts-SC phocomelia syndrome (MIM#268300)
Tags
Green Green List (high evidence)
ETFA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glutaric acidemia IIA, 231680 (3)
Tags
Green Green List (high evidence)
ETFB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glutaric acidaemia IIB, MIM# 231680
Tags
Green Green List (high evidence)
ETFDH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glutaric acidemia IIC, 231680 (3)
Tags
Green Green List (high evidence)
ETHE1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ethylmalonic encephalopathy, 602473 (3)
Tags
Green Green List (high evidence)
EVC
1 review
1 green
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pontocerebellar hypoplasia, type 1B, MIM# 614678
Tags
Green Green List (high evidence)
EXOSC8
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pontocerebellar hypoplasia, type 1C, 616081 (3)
Tags
Green Green List (high evidence)
EXTL3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM#617425
Tags
Green Green List (high evidence)
F2
3 reviews
2 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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Factor VII deficiency, 227500 (3)
Tags
Green Green List (high evidence)
FA2H
2 reviews
2 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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Tyrosinemia, type I, 276700 (3)
Tags
Green Green List (high evidence)
FAM126A
1 review
1 green
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
1 review
1 green
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
1 review
1 green
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
2 reviews
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Fanconi anaemia, complementation group E, MIM#600901
Tags
Green Green List (high evidence)
FANCF
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Fanconi anaemia, complementation group F, MIM#603467
Tags
Green Green List (high evidence)
FANCG
1 review
1 green
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Combined oxidative phosphorylation deficiency 14 (MIM#614946)
  • Spastic paraplegia 77 (MIM#617046)
Tags
Green Green List (high evidence)
FAT4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006
  • Van Maldergem syndrome 2 MIM#615546
Tags
Green Green List (high evidence)
FBLN5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cutis laxa, autosomal recessive, type IA, 219100 (3)
Tags
Green Green List (high evidence)
FBP1
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471
Tags
Green Green List (high evidence)
FBXO7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Parkinson disease 15, autosomal recessive, MIM#260300
Tags
Green Green List (high evidence)
FERMT1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Kindler syndrome, MIM#173650
Tags
Green Green List (high evidence)
FERMT3
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Afibrinogenemia, congenital, 202400 (3)
Tags
Green Green List (high evidence)
FGB
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Afibrinogenemia, congenital, 202400 (3)
Tags
Green Green List (high evidence)
FH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Fumarase deficiency, MIM# 606812
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bruck syndrome MIM#259450
  • osteogenesis imperfecta, type XI, MIM#610968
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myopathy caused by variation in FKRP MONDO:0700066
Tags
Green Green List (high evidence)
FKTN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cardiomyopathy, dilated, 1X MIM#611615
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4MIM#253800
  • Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 4 MIM#613152
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 MIM# 611588
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
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • FG syndrome 2, MIM#300321
  • Frontometaphyseal dysplasia 1, MIM#305620
  • Heterotopia, periventricular, 1, MIM#300049
  • Intestinal pseudoobstruction, neuronal, MIM#300048
  • Melnick-Needles syndrome, MIM#309350
  • Otopalatodigital syndrome, type I, MIM#311300
  • Otopalatodigital syndrome, type II, MIM#304120
  • Terminal osseous dysplasia, MIM#300244
Tags
Green Green List (high evidence)
FLNB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spondylocarpotarsal synostosis syndrome, 272460 (3)
Tags
Green Green List (high evidence)
FLVCR1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ataxia, posterior column, with retinitis pigmentosa, 609033, Neurodevelopmental disorder MONDO:0700092, FLVCR1-related
Tags
Green Green List (high evidence)
FLVCR2
1 review
1 green
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
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Fragile X syndrome, MIM #300624
Tags
Green Green List (high evidence)
FOLR1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neurodegeneration due to cerebral folate transport deficiency, MIM#613068
Tags
Green Green List (high evidence)
FOXE3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256
Tags
Green Green List (high evidence)
FOXN1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • T-cell immunodeficiency, congenital alopecia, and nail dystrophy MIM#601705
Tags
Green Green List (high evidence)
FOXP3
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 19, MIM# 618241
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
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Manitoba oculotrichoanal syndrome MIM# 248450
  • Bifid nose with or without anorectal and renal anomalies, MIM# 608980
Tags
Green Green List (high evidence)
FREM2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Fraser syndrome, 219000 (3)
Tags
Green Green List (high evidence)
FRRS1L
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epileptic encephalopathy, early infantile, 37, MIM#616981
Tags
Green Green List (high evidence)
FTO
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Growth retardation, developmental delay, facial dysmorphism MIM#612938
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Fucosidosis, MIM# 230000
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
  • review
Green Green List (high evidence)
G6PC
1 review
1 green
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
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Dursun syndrome, MIM# 612541
  • Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541
Tags
Green Green List (high evidence)
GAA
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Krabbe disease, MIM# 245200
  • MONDO:0009499
Tags
Green Green List (high evidence)
GALNS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mucopolysaccharidosis IVA, 253000 (3)
Tags
Green Green List (high evidence)
GALT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Galactosemia MIM# 230400
Tags
Green Green List (high evidence)
GAMT
1 review
1 green
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
1 review
1 green
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
1 review
1 green
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spastic paraplegia 46, autosomal recessive, MIM# 614409
Tags
Green Green List (high evidence)
GBE1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glycogen storage disease IV, MIM#232500
Tags
Green Green List (high evidence)
GCDH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glutaric aciduria, type I, MIM#231670
Tags
Green Green List (high evidence)
GCH1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • GTP cyclohydrolase I deficiency MONDO:0100184
Tags
Green Green List (high evidence)
GDAP1
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Right atrial isomerism, 208530 (3)
Tags
Green Green List (high evidence)
GDF5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Chondrodysplasia, Grebe type, 200700 (3)
Tags
Green Green List (high evidence)
GDI1
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myasthenia, congenital, 12, with tubular aggregates, MIM#610542
Tags
Green Green List (high evidence)
GHR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Laron dwarfism, MIM#262500
Tags
Green Green List (high evidence)
GJA1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Craniometaphyseal dysplasia, autosomal recessive MIM#218400
  • Oculodentodigital dysplasia, autosomal recessive MIM#257850
Tags
Green Green List (high evidence)
GJB1
3 reviews
2 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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukodystrophy, hypomyelinating, 2, 608804 (3)
Tags
Green Green List (high evidence)
GLA
2 reviews
2 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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • GM1-gangliosidosis, type I MIM#230500
  • GM1-gangliosidosis, type II MIM#230600
  • GM1-gangliosidosis, type III MIM#230650
  • Mucopolysaccharidosis type IVB (Morquio) MIM#253010
Tags
Green Green List (high evidence)
GLDC
1 review
1 green
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Diabetes mellitus, neonatal, with congenital hypothyroidism MIM#610199
Tags
Green Green List (high evidence)
GLYCTK
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • D-glyceric aciduria, MIM#220120
Tags
Green Green List (high evidence)
GM2A
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Alacrima, achalasia, and impaired intellectual development syndrome (MIM#615510)
Tags
Green Green List (high evidence)
GMPPB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350
  • Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 615351
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352
Tags
Green Green List (high evidence)
GNAT2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Achromatopsia 4 MIM#613856
Tags
Green Green List (high evidence)
GNB5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173)
  • Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182)
Tags
Green Green List (high evidence)
GNE
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nonaka myopathy MIM#605820
  • Thrombocytopenia 12 with or without myopathy MIM#620757
Tags
  • for review
Green Green List (high evidence)
GNPAT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Rhizomelic chondrodysplasia punctata, type 2 (MIM# 22276)5)
Tags
Green Green List (high evidence)
GNPTAB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mucolipidosis III alpha/beta MIM#252600
  • Mucolipidosis II alpha/beta MIM#252500
Tags
Green Green List (high evidence)
GNPTG
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mucolipidosis III gamma, 252605 (3)
Tags
Green Green List (high evidence)
GNS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mucopolysaccharidosis type IIID, 252940 (3)
Tags
Green Green List (high evidence)
GORAB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Geroderma osteodysplasticum, MIM#231070
  • MONDO:0009271
Tags
Green Green List (high evidence)
GOSR2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epilepsy, progressive myoclonic 6 MIM#614018
  • Muscular dystrophy, congenital, with or without seizures MIM#620166
Tags
Green Green List (high evidence)
GPAA1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glycosylphosphatidylinositol biosynthesis defect 15, MIM#617810
Tags
Green Green List (high evidence)
GPC3
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Simpson-Golabi-Behmel syndrome, type 1, 312870 (3)
Tags
Green Green List (high evidence)
GPC6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Omodysplasia 1, 258315 (3)
Tags
Green Green List (high evidence)
GPHN
1 review
1 green
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
2 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nystagmus 6, congenital, X-linked, MIM#300814
  • Ocular albinism, type I, Nettleship-Falls type, MIM#300500
Tags
Green Green List (high evidence)
GPR179
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Chudley-McCullough syndrome, MIM#604213
Tags
Green Green List (high evidence)
GPT2
1 review
1 green
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glutathione synthetase deficiency, 266130 (3)
Tags
Green Green List (high evidence)
GTF2H5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Trichothiodystrophy 3, photosensitive, MIM# 616395
Tags
Green Green List (high evidence)
GTPBP3
1 review
1 green
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Meconium ileus, 614665 (3)
Tags
Green Green List (high evidence)
GUCY2D
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leber congenital amaurosis 1, MIM#204000
Tags
Green Green List (high evidence)
GUSB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mucopolysaccharidosis VII, MIM# 253220
Tags
Green Green List (high evidence)
HACE1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spastic paraplegia and psychomotor retardation with or without seizures, MIM#616756
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial trifunctional protein deficiency 2 MIM#620300
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neutropenia, severe congenital 3, autosomal recessive, MIM#610738
Tags
Green Green List (high evidence)
HBB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Thalassemias, beta-, 613985 (3)
Tags
Green Green List (high evidence)
HCFC1
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Methylmalonic aciduria and homocysteinemia, cblX type, MIM#309541
Tags
Green Green List (high evidence)
HEPACAM
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Megalencephalic leukoencephalopathy with subcortical cysts 2A, MIM#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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spondylocostal dysostosis 4, autosomal recessive MIM#60859
Tags
Green Green List (high evidence)
HESX1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Septooptic dysplasia, MIM#182230
  • Pituitary hormone deficiency, combined, 5 MIM#182230
  • Growth hormone deficiency with pituitary anomalies, MIM#182230
Tags
Green Green List (high evidence)
HEXA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Tay-Sachs disease, 272800 (3)
Tags
Green Green List (high evidence)
HEXB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Sandhoff disease, infantile, juvenile, and adult forms, MIM#268800
Tags
Green Green List (high evidence)
HFE2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Haemochromatosis, type 2A, 602390 (3)
Tags
Green Green List (high evidence)
HGSNAT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM#252930
Tags
Green Green List (high evidence)
HIBCH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM#250620
Tags
Green Green List (high evidence)
HINT1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neuromyotonia and axonal neuropathy, autosomal recessive, MIM#137200
Tags
Green Green List (high evidence)
HK1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hemolytic anemia due to hexokinase deficiency MIM#235700
  • Neuropathy, hereditary motor and sensory, Russe type, MIM#605285
Tags
Green Green List (high evidence)
HLCS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Holocarboxylase synthetase deficiency, 253270 (3)
Tags
Green Green List (high evidence)
HMGCL
1 review
1 green
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Athabaskan brainstem dysgenesis syndrome, MIM#601536
  • Bosley-Salih-Alorainy syndrome, MIM#601536
Tags
Green Green List (high evidence)
HPD
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Tyrosinemia, type III, 276710 (3)
Tags
  • for review
Green Green List (high evidence)
HPGD
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cranioosteoarthropathy, 259100 (3)
Tags
Green Green List (high evidence)
HPRT1
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lesch-Nyhan syndrome, MIM#300322
Tags
Green Green List (high evidence)
HPS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hermansky-Pudlak syndrome 1, MIM#203300
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hermansky-Pudlak syndrome 4, MIM #614073
Tags
Green Green List (high evidence)
HPS5
1 review
1 green
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
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hermansky-Pudlak syndrome 6, MIM# 614075
Tags
Green Green List (high evidence)
HPSE2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Urofacial syndrome 1 MIM#236730
Tags
Green Green List (high evidence)
HSD17B10
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • HSD10 mitochondrial disease, MIM#300438
Tags
Green Green List (high evidence)
HSD17B4
2 reviews
2 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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM#201810
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Schwartz-Jampel syndrome, type 1, MIM# 255800
  • Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410
Tags
Green Green List (high evidence)
HTRA2
1 review
1 green
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
1 review
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, Turner type, MIM#309590
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093
Tags
Green Green List (high evidence)
IARS2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM#616007
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency, common variable, 1, 607594 (3)
Tags
  • SV/CNV
Green Green List (high evidence)
IDS
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mucopolysaccharidosis II, MIM# 309900
  • Hunter syndrome, MONDO:0010674
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
1 review
1 green
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 28, mycobacteriosis, MIM#614889
Tags
Green Green List (high evidence)
IFT122
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cranioectodermal dysplasia 1, 218330 (3)
Tags
Green Green List (high evidence)
IFT140
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Short-rib thoracic dysplasia 9 with of without polydactyly (MIM#266920)
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263
  • MONDO:0012644
Tags
Green Green List (high evidence)
IGF1R
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neuronopathy, distal hereditary motor, autosomal recessive 1 MIM#604320
  • Charcot-Marie-Tooth disease, axonal, type 2S MIM#616155
Tags
Green Green List (high evidence)
IKBKB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 15, MIM#615592
Tags
Green Green List (high evidence)
IL10RA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Early onset inflammatory bowel disease 28 (MIM# 613148)
Tags
Green Green List (high evidence)
IL10RB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Inflammatory bowel disease 25, early onset, #MIM612657
Tags
Green Green List (high evidence)
IL11RA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Craniosynostosis and dental anomalies, MIM#614188
Tags
Green Green List (high evidence)
IL12RB1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 30, MIM#614891
Tags
Green Green List (high evidence)
IL17RA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 51, MIM #613953
Tags
Green Green List (high evidence)
IL1RAPL1
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Intellectual developmental disorder, X-linked 21, MIM#300143
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, MIM# 612852
  • Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis, MIM# 61285
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 104 MIM#608971
Tags
Green Green List (high evidence)
INPP5E
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Joubert syndrome 1, MIM# 213300
  • MONDO:0008944
  • Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156
  • MONDO:0012423
Tags
Green Green List (high evidence)
INPP5K
0 reviews
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Opsismodysplasia MIM #258480
Tags
Green Green List (high evidence)
INSR
1 review
1 green
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
1 review
1 green
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
1 review
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 1 MIM#309530
Tags
Green Green List (high evidence)
ISCA2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 4, MIM #616370
Tags
Green Green List (high evidence)
ISPD
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 (3)
Tags
  • new gene name
Green Green List (high evidence)
ITCH
2 reviews
1 green
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
2 reviews
2 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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukocyte adhesion deficiency, 116920 (3)
Tags
Green Green List (high evidence)
ITGB4
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Gillespie syndrome, MIM#206700
Tags
Green Green List (high evidence)
IVD
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Isovaleric acidemia, 243500 (3)
Tags
Green Green List (high evidence)
JAGN1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Severe congenital neutropenia 6, MIM# 616022
Tags
Green Green List (high evidence)
JAK3
1 review
1 green
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Naxos disease MIM#601214
Tags
Green Green List (high evidence)
KATNB1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lissencephaly 6, with microcephaly, MIM#616212
Tags
Green Green List (high evidence)
KCNJ1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bartter syndrome, type 2, MIM#241200
Tags
Green Green List (high evidence)
KCNJ10
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • SESAME syndrome, MIM# 612780
  • EAST syndrome, MONDO:0013005
Tags
Green Green List (high evidence)
KCNJ11
2 reviews
1 green
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
3 reviews
2 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
1 review
1 green
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Short-rib thoracic dysplasia 14 with polydactyly (MIM#616546)
  • Joubert syndrome 23 (MIM#616490)
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
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly 20, primary, autosomal recessive, MIM #617914
Tags
Green Green List (high evidence)
KIF1A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spastic paraplegia 30, autosomal recessive, MIM#610357
Tags
Green Green List (high evidence)
KIF1BP
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spastic ataxia 2, autosomal recessive, MIM#611302
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nemaline myopathy 9, 615731 (3)
Tags
Green Green List (high evidence)
KLHL7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • PERCHING syndrome, MIM#617055
Tags
Green Green List (high evidence)
KNL1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly 4, primary, autosomal recessive, MIM# 604321
  • MONDO:0011437
Tags
Green Green List (high evidence)
KPTN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 41 (MIM#615637)
Tags
Green Green List (high evidence)
KRT10
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epidermolytic hyperkeratosis 2B, autosomal recessive MIM#620707
  • MONDO:0700245
Tags
Green Green List (high evidence)
KRT14
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive MIM# 601001
  • MONDO:0010976
Tags
Green Green List (high evidence)
KRT5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive, MIM#619599
Tags
Green Green List (high evidence)
KY
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myopathy, myofibrillar, 7 (MIM#617114)
Tags
Green Green List (high evidence)
L1CAM
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • MASA syndrome, MIM#303350
  • Hydrocephalus, congenital, X-linked, MIM#307000
Tags
Green Green List (high evidence)
L2HGDH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • L-2-hydroxyglutaric aciduria, MIM#236792
Tags
Green Green List (high evidence)
LAMA1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Poretti-Boltshauser syndrome, 615960 (3)
Tags
Green Green List (high evidence)
LAMA2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855
  • Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138
Tags
Green Green List (high evidence)
LAMA3
1 review
1 green
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
1 review
1 green
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
1 review
1 green
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
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epidermolysis bullosa, junctional, Herlitz type, MIM#619785
  • Epidermolysis bullosa, junctional, non-Herlitz type, MIM#619786
Tags
Green Green List (high evidence)
LAMC3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cortical malformations, occipital, MIM #614115
Tags
Green Green List (high evidence)
LARGE1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, MIM #613154
Tags
Green Green List (high evidence)
LARP7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Alazami syndrome MIM#615071
Tags
Green Green List (high evidence)
LARS
1 review
1 green
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
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Immunodeficiency 52, MIM# 617514
Tags
Green Green List (high evidence)
LBR
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Greenberg skeletal dysplasia MIM#215140
  • Regressive Spondylometaphyseal Dysplasia MIM#618019)
Tags
Green Green List (high evidence)
LCA5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leber congenital amaurosis 5, MIM# 604537
Tags
Green Green List (high evidence)
LCAT
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Norum disease, MIM#245900
  • Fish-eye disease, MIM# 136120
Tags
  • for review
Green Green List (high evidence)
LDHA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glycogen storage disease XI MIM#612933
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Familial hypercholesterolemia 4, MIM#603813
Tags
Green Green List (high evidence)
LEP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Obesity, morbid, due to leptin deficiency, MIM#614962
Tags
Green Green List (high evidence)
LGI4
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pituitary hormone deficiency, combined, 3, MIM# 221750
Tags
Green Green List (high evidence)
LIAS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hyperglycinaemia, lactic acidosis, and seizures MIM#614462
Tags
Green Green List (high evidence)
LIFR
1 review
1 green
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
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • LIG4 syndrome, MIM# 606593
  • DNA ligase IV deficiency, MONDO:0011686
Tags
Green Green List (high evidence)
LINS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 2, MIM#614340
Tags
Green Green List (high evidence)
LIPA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Wolman disease, MIM#620151
  • Cholesteryl ester storage disease, MIM#278000
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lipoyltransferase 1 deficiency, 616299 (3)
Tags
Green Green List (high evidence)
LMAN1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Combined factor V and VIII deficiency, MIM#227300
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblF type, MIM#277380
Tags
Green Green List (high evidence)
LMNA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mandibuloacral dysplasia, MIM# 248370
Tags
Green Green List (high evidence)
LMOD3
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myoglobinuria, acute recurrent, autosomal recessive, MIM#268200
Tags
Green Green List (high evidence)
LPIN2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Majeed syndrome MIM#609628
Tags
Green Green List (high evidence)
LPL
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lipoprotein lipase deficiency MIM#238600
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency, common variable, 8, with autoimmunity MIM#614700
Tags
Green Green List (high evidence)
LRIG2
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Donnai-Barrow syndrome, 222448 (3)
Tags
Green Green List (high evidence)
LRP4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cenani-Lenz syndactyly syndrome, MIM #212780
Tags
Green Green List (high evidence)
LRP5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Osteoporosis-pseudoglioma syndrome, 259770 (3)
Tags
Green Green List (high evidence)
LRPPRC
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111
Tags
Green Green List (high evidence)
LRRC6
2 reviews
1 green
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
1 review
1 green
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 8, MIM#615838, 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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bardet-Biedl syndrome 17 MIM#615994
  • MONDO:0014445
Tags
Green Green List (high evidence)
MALT1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 12, 615468 (3)
Tags
Green Green List (high evidence)
MAN1B1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Rafiq syndrome, MIM# 614202
Tags
Green Green List (high evidence)
MAN2B1
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mannosidosis, beta, MIM#248510
Tags
Green Green List (high evidence)
MAOA
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Brunner syndrome, MIM# 300615
Tags
Green Green List (high evidence)
MAPKBP1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nephronophthisis 20, 617271 (3), Autosomal recessive
Tags
Green Green List (high evidence)
MARS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Interstitial lung and liver disease, MIM#615486
Tags
  • new gene name
Green Green List (high evidence)
MARS2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Combined oxidative phosphorylation deficiency 25
  • MIM #616430, MONDO:0014636
  • Spastic ataxia 3, autosomal recessive, MIM #611390, MONDO:0012664
Tags
Green Green List (high evidence)
MASP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • 3MC syndrome 1, MIM# 257920
Tags
Green Green List (high evidence)
MBOAT7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 57, MIM #617188
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM #202200
Tags
Green Green List (high evidence)
MCFD2
1 review
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mucolipidosis IV MIM#252650
Tags
Green Green List (high evidence)
MCPH1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly 1, primary, autosomal recessive, MIM#251200
Tags
Green Green List (high evidence)
MECP2
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Encephalopathy, neonatal severe MIM#300673
  • Intellectual developmental disorder, X-linked syndromic 13 MIM#300055
  • Intellectual developmental disorder, X-linked syndromic, Lubs type MIM#300260
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668
Tags
Green Green List (high evidence)
MED23
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy MIM#614249
Tags
Green Green List (high evidence)
MED25
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449
  • congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome MONDO:0014643
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Carpenter syndrome 2, 614976 (3)
Tags
Green Green List (high evidence)
MERTK
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Retinitis pigmentosa 38, MIM#613862
Tags
Green Green List (high evidence)
MESP2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spondylocostal dysostosis 2, MIM #608681
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities MIM#616486
Tags
Green Green List (high evidence)
MFSD8
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 7, MIM# 610951
Tags
Green Green List (high evidence)
MGAT2
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial DNA depletion syndrome 11, MIM#615084
Tags
Green Green List (high evidence)
MGP
1 review
1 green
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
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Opitz GBBB syndrome MIM#300000
  • MONDO:0017138
Tags
Green Green List (high evidence)
MKKS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bardet-Biedl syndrome 6 MIM#605231
  • McKusick-Kaufman syndrome MIM#236700
  • MKKS-related ciliopathy MONDO:1040050
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Malonyl-CoA decarboxylase deficiency, MIM#248360
Tags
Green Green List (high evidence)
MMAA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Methylmalonic aciduria, vitamin B12-responsive, MIM#251100
Tags
Green Green List (high evidence)
MMAB
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type MIM#277400
Tags
Green Green List (high evidence)
MMADHC
1 review
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Heterotaxy, visceral, 7, autosomal MIM#616749
  • MONDO:0014762
Tags
Green Green List (high evidence)
MOCS1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Molybdenum cofactor deficiency A, MIM#252150
Tags
Green Green List (high evidence)
MOCS2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Molybdenum cofactor deficiency B, 252160 (3)
Tags
Green Green List (high evidence)
MPDZ
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hydrocephalus, congenital, 2, with or without brain or eye anomalies MIM#615219
Tags
Green Green List (high evidence)
MPI
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital disorder of glycosylation, type Ib, MIM# 602579
Tags
Green Green List (high evidence)
MPL
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Thrombocytopenia, congenital amegakaryocytic, 604498 (3)
Tags
Green Green List (high evidence)
MPLKIP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Trichothiodystrophy 4, nonphotosensitive, 234050 (3)
Tags
Green Green List (high evidence)
MPV17
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM#256810
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glucocorticoid deficiency 2, MIM #607398
Tags
Green Green List (high evidence)
MRE11
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leigh Syndrome MONDO:0009723
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Homocystinuria due to MTHFR deficiency, MIM# 236250
Tags
Green Green List (high evidence)
MTM1
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myopathy, centronuclear, X-linked MIM#310400
Tags
Green Green List (high evidence)
MTMR2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Charcot-Marie-Tooth disease, type 4B1, MIM#601382
Tags
Green Green List (high evidence)
MTO1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Combined oxidative phosphorylation deficiency 10, MIM#614702
Tags
Green Green List (high evidence)
MTR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940
Tags
Green Green List (high evidence)
MTRR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Homocystinuria-megaloblastic anaemia, cbl E type, MIM #236270
Tags
Green Green List (high evidence)
MTTP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Abetalipoproteinemia, 200100 (3)
Tags
Green Green List (high evidence)
MUSK
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3)
Tags
Green Green List (high evidence)
MUT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Methylmalonic aciduria, mut(0) type, MIM# 251000
Tags
Green Green List (high evidence)
MVK
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mevalonic aciduria, MIM#610377
  • Hyper-IgD syndrome, MIM#260920
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Carey-Fineman-Ziter syndrome, MIM#254940
Tags
Green Green List (high evidence)
MYO5B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cholestasis, progressive familial intrahepatic, 10, MIM#619868
  • Diarrhea 2, with microvillus atrophy, with or without cholestasis, MIM#251850
Tags
Green Green List (high evidence)
MYO7A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Usher syndrome, type 1B, MIM# 276900
Tags
Green Green List (high evidence)
NAA10
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ogden syndrome (MIM#300855)
  • Syndromic microphthalmia 1 (MIM#309800)
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mucopolysaccharidosis type IIIB (Sanfilippo B) MIM#252920
Tags
Green Green List (high evidence)
NAGS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • N-acetylglutamate synthase deficiency MIM#237310
Tags
Green Green List (high evidence)
NALCN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (MIM#615419)
Tags
Green Green List (high evidence)
NANS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spondyloepimetaphyseal dysplasia, Camera-Genevieve type (MIM#610442)
Tags
Green Green List (high evidence)
NARS2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Combined oxidative phosphorylation deficiency 24 - MIM#616239, MONDO:0014547
Tags
Green Green List (high evidence)
NAXE
1 review
1 green
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
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM#614800
  • Infantile liver failure syndrome 2, MIM#616483
Tags
Green Green List (high evidence)
NBN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nijmegen breakage syndrome, MIM#251260
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Charcot-Marie-Tooth disease, type 4D MIM#601455
Tags
Green Green List (high evidence)
NDUFA1
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 12 MIM#301020
Tags
Green Green List (high evidence)
NDUFA10
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 22, MIM#618243
Tags
Green Green List (high evidence)
NDUFAF2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 10, MIM#618233
Tags
Green Green List (high evidence)
NDUFAF5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 16 MIM#618238
Tags
Green Green List (high evidence)
NDUFAF6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leigh syndrome MONDO:0009723
  • Mitochondrial complex I deficiency, nuclear type 17 MIM#618239
Tags
Green Green List (high evidence)
NDUFS1
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 6, MIM #618228
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 9 (MIM#618232)
Tags
Green Green List (high evidence)
NDUFS7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 3 MIM#618224
Tags
Green Green List (high evidence)
NDUFS8
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 2 (MIM#618222)
Tags
Green Green List (high evidence)
NDUFV1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 4 MIM#618225
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
1 review
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Short-rib thoracic dysplasia 6 with or without polydactyly, MIM#263520
Tags
Green Green List (high evidence)
NEK8
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Sialidosis, type I, MIM #256550
  • Sialidosis, type II, MIM #256550
Tags
Green Green List (high evidence)
NEXMIF
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Intellectual developmental disorder, X-linked 98, MIM #300912
Tags
Green Green List (high evidence)
NFU1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 1, MIM#605711
Tags
Green Green List (high evidence)
NGF
1 review
1 green
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM#611291
Tags
Green Green List (high evidence)
NHLRC1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myoclonic epilepsy of Lafora 2, MIM# 620681
Tags
Green Green List (high evidence)
NHS
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cataract 40, X-linked, 302200 (3)
Tags
Green Green List (high evidence)
NIPAL4
1 review
1 green
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy MIM#617560
Tags
Green Green List (high evidence)
NMNAT1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leber congenital amaurosis 9, MIM#608553
Tags
Green Green List (high evidence)
NNT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency MIM#614736
  • MONDO:0013874
Tags
Green Green List (high evidence)
NPC1
2 reviews
2 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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nephronophthisis 1, juvenile MIM#256100
  • Joubert syndrome 4 MIM#609583
  • Senior-Loken syndrome-1 MIM#266900
Tags
Green Green List (high evidence)
NPHP3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Renal-hepatic-pancreatic dysplasia 1 MIM#208540
  • Meckel syndrome 7 MIM#267010
  • Nephronophthisis 3 MIM#604387
Tags
Green Green List (high evidence)
NPHP4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nephronophthisis 4 MONDO:0011752
  • Nephronophthisis 4 MIM#606966
  • Senior-Loken syndrome 4 MIM#606996
Tags
Green Green List (high evidence)
NPHS1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nephrotic syndrome, type 1, MIM# 256300
Tags
Green Green List (high evidence)
NPHS2
1 review
1 green
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
1 review
1 green
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
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • CK syndrome, MIM#300831
Tags
Green Green List (high evidence)
NSUN2
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spastic paraplegia 45, 613162 (3)
Tags
Green Green List (high evidence)
NTRK1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Insensitivity to pain, congenital, with anhidrosis MIM#256800
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nephrotic syndrome, type 12 MIM#616892
Tags
Green Green List (high evidence)
NYX
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Night blindness, congenital stationary (complete), 1A, X-linked, MIM #310500
Tags
Green Green List (high evidence)
OBSL1
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pseudo-TORCH syndrome 1, MIM#251290
Tags
Green Green List (high evidence)
OCRL
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Dent disease 2 MIM#300555
  • Lowe syndrome MIM#309000
Tags
Green Green List (high evidence)
OFD1
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • 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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • 3-methylglutaconic aciduria, type III MIM#258501
  • 3-methylglutaconic aciduria type 3 MONDO:0009787
Tags
Green Green List (high evidence)
OPHN1
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3)
Tags
Green Green List (high evidence)
ORAI1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 9, 612782 (3)
Tags
Green Green List (high evidence)
ORC1
1 review
1 green
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
1 review
1 green
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
1 review
1 green
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Brachyolmia 4 with mild epiphyseal and metaphyseal changes, MIM#612847
Tags
Green Green List (high evidence)
PC
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pyruvate carboxylase deficiency (MIM#266150)
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Propionicacidemia MIM#606054
  • propionic acidemia MONDO:0011628
Tags
Green Green List (high evidence)
PCDH12
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Diencephalic-mesencephalic junction dysplasia syndrome 1 (MIM# 251280)
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720
  • MONDO:0008872
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spondylometaphyseal dysplasia with cone-rod dystrophy MIM#608940
Tags
Green Green List (high evidence)
PDE6C
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cone dystrophy 4, 613093 (3)
Tags
Green Green List (high evidence)
PDHA1
3 reviews
2 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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pyruvate dehydrogenase E1-beta deficiency, MIM#614111
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Peroxisome biogenesis disorder 1A (Zellweger), MIM#214100
Tags
Green Green List (high evidence)
PEX10
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Peroxisome biogenesis disorder 6A (Zellweger) MIM#614870
  • Peroxisome biogenesis disorder 6B MIM#614871
Tags
Green Green List (high evidence)
PEX11B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Peroxisome biogenesis disorder 14B MIM#614920
Tags
Green Green List (high evidence)
PEX12
1 review
1 green
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876
  • Peroxisome biogenesis disorder 8B MIM#614877
Tags
Green Green List (high evidence)
PEX2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Peroxisome biogenesis disorder 5A (Zellweger), MIM#614866
  • Peroxisome biogenesis disorder 5B, MIM#614867
Tags
Green Green List (high evidence)
PEX26
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Peroxisome biogenesis disorder 7A (Zellweger) - MIM#614872, MONDO:0013938
  • Peroxisome biogenesis disorder 7B - MIM#614873, MONDO:0013939
Tags
Green Green List (high evidence)
PEX3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Peroxisome biogenesis disorder 10A (Zellweger) MIM#614882
  • Peroxisome biogenesis disorder 10B MIM#617370
  • Peroxisome biogenesis disorder due to PEX3 defect MONDO:0100261
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
1 review
1 green
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hyperphosphatasia with impaired intellectual development syndrome 3, MIM#614207
Tags
Green Green List (high evidence)
PGAP3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318
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
1 review
1 green
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
1 review
1 green
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
1 review
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, Siderius type, MIM#300263
Tags
Green Green List (high evidence)
PHGDH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neu-Laxova syndrome 1 MIM#256520
  • Phosphoglycerate dehydrogenase deficiency MIM#601815
Tags
Green Green List (high evidence)
PHYH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Refsum disease MIM#266500
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Arthrogryposis, distal, with impaired proprioception and touch, MIM#617146
Tags
Green Green List (high evidence)
PIGA
1 review
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, MIM#300868
  • Neurodevelopmental disorder with epilepsy and hemochromatosis, MIM#301072
Tags
Green Green List (high evidence)
PIGG
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy MIM#616917
Tags
Green Green List (high evidence)
PIGL
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • CHIME syndrome, MIM# 280000, MONDO:0010221
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
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hyperphosphatasia with impaired intellectual development syndrome 2, MIM#614749
Tags
Green Green List (high evidence)
PIGT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165
Tags
Green Green List (high evidence)
PIGV
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398
Tags
Green Green List (high evidence)
PIH1D3
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 36, X-linked, MIM #300991
Tags
Green Green List (high evidence)
PKHD1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Polycystic kidney disease 4, with or without hepatic disease MIM#263200
Tags
Green Green List (high evidence)
PKLR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pyruvate kinase deficiency, MIM#266200
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
1 review
1 green
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bruck syndrome 2, MIM#609220
Tags
Green Green List (high evidence)
PLP1
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pelizaeus-Merzbacher disease MIM#312080, Pelizeaus-Merzbacher spectrum disorder MONDO:0010714
  • Spastic paraplegia 2, X-linked MIM#312920, hereditary spastic paraplegia 2 MONDO:0010733
Tags
Green Green List (high evidence)
PLPBP
1 review
1 green
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spinocerebellar ataxia 2, MIM#213200
Tags
Green Green List (high evidence)
PNKP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Charcot-Marie-Tooth disease, type 2B2 MIM#605589
  • Ataxia-oculomotor apraxia 4 MIM#616267
  • Microcephaly, seizures, and developmental delay MIM#613402
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukodystrophy, hypomyelinating, 11 MIM#616494
  • Treacher Collins syndrome 3 MIM#248390
Tags
Green Green List (high evidence)
POLR3A
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Obesity, adrenal insufficiency, and red hair due to POMC deficiency, MIM#609734
Tags
Green Green List (high evidence)
POMGNT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, MIM#253280
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3, MIM#613151
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 MIM#613157
Tags
Green Green List (high evidence)
POMGNT2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8, 618135
  • Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, MIM#618135
Tags
Green Green List (high evidence)
POMK
1 review
1 green
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
2 reviews
2 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myopathy caused by variation in POMT1 MONDO:0700070
Tags
Green Green List (high evidence)
POMT2
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Anauxetic dysplasia 2, MIM#617396
Tags
Green Green List (high evidence)
POR
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pituitary hormone deficiency, combined or isolated, 1, MIM#613038
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
1 review
1 green
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Brittle cornea syndrome 2, MIM#614170
Tags
Green Green List (high evidence)
PRF1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hemophagocytic lymphohistiocytosis, familial, 2, MIM#603553
Tags
Green Green List (high evidence)
PRG4
1 review
1 green
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
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Dystonia 16, MIM#612067
Tags
Green Green List (high evidence)
PROC
3 reviews
2 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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pituitary hormone deficiency, combined, 2, MIM#262600
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
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • PRPS1 deficiency disorder MONDO:0100061
  • Phosphoribosylpyrophosphate synthetase superactivity MIM#300661 MONDO:0010395
Tags
Green Green List (high evidence)
PRUNE1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MIM#617481
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Metachromatic leukodystrophy due to SAP-b deficiency, MIM#249900
Tags
Green Green List (high evidence)
PSAT1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Phosphoserine aminotransferase deficiency MIM#610992
  • Neu-Laxova syndrome 2 MIM#616038
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Phosphoserine phosphatase deficiency, 614023 (3)
Tags
Green Green List (high evidence)
PTH1R
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Chondrodysplasia, Blomstrand type (MIM#215045)
  • Eiken syndrome (MIM#600002)
Tags
Green Green List (high evidence)
PTS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Anterior segment dysgenesis 7, with sclerocornea, MIM#269400
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukodystrophy, hypomyelinating, 10, MIM#616420
Tags
Green Green List (high evidence)
PYROXD1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myopathy, myofibrillar, 8 MIM#617258
Tags
Green Green List (high evidence)
QARS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy MIM#615760
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Warburg micro syndrome 3 MIM#614222
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Smith-McCort dysplasia 2, MIM #615222
Tags
Green Green List (high evidence)
RAB39B
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Intellectual developmental disorder, X-linked 72, MIM #300271
Tags
Green Green List (high evidence)
RAB3GAP1
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Warburg micro syndrome MONDO:0016649
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency MIM#616326
  • Fetal akinesia deformation sequence 2 MIM#618388
Tags
Green Green List (high evidence)
RARB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microphthalmia, syndromic 12, 615524 (3), Autosomal recessive
Tags
Green Green List (high evidence)
RARS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukodystrophy, hypomyelinating, 9, MIM#616140
Tags
Green Green List (high evidence)
RARS2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pontocerebellar hypoplasia, type 6, MIM#611523
Tags
Green Green List (high evidence)
RAX
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microphthalmia, syndromic 16, MIM #611038
Tags
Green Green List (high evidence)
RBBP8
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Jawad syndrome MIM#251255
  • Seckel syndrome 2 MIM#606744
Tags
Green Green List (high evidence)
RBCK1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Polyglucosan body myopathy 1 with or without immunodeficiency, MIM #615895
Tags
Green Green List (high evidence)
RBM10
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • TARP syndrome, 311900 (3)
Tags
Green Green List (high evidence)
RCBTB1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Retinal dystrophy with or without extraocular anomalies, 617175 (3), Autosomal recessive
Tags
  • for review
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leber congenital amaurosis 13, MIM#612712
Tags
Green Green List (high evidence)
RECQL4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Baller-Gerold syndrome, MIM# 218600
  • RAPADILINO syndrome, MIM# 266280
  • Rothmund-Thomson syndrome, type 2,MIM# 268400
Tags
Green Green List (high evidence)
REEP6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Retinitis pigmentosa 77 MIM#617304
Tags
Green Green List (high evidence)
REN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Renal tubular dysgenesis MIM#267430
Tags
Green Green List (high evidence)
RETREG1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115
  • MONDO:0013142
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • MHC class II deficiency 2, MIM#620815
Tags
Green Green List (high evidence)
RFXAP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • MHC class II deficiency 4 MIM#620817
Tags
Green Green List (high evidence)
RIN2
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Popliteal pterygium syndrome, Bartsocas-Papas type 1, MIM# 263650
Tags
Green Green List (high evidence)
RLIM
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Tonne-Kalscheuer syndrome MIM#300978
Tags
Green Green List (high evidence)
RMND1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Combined oxidative phosphorylation deficiency 11, MIM#614922
Tags
Green Green List (high evidence)
RMRP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cartilage-hair hypoplasia, 250250 (3)
Tags
  • non-coding gene
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Aicardi-Goutieres syndrome 2 MIM#610181
Tags
Green Green List (high evidence)
RNASEH2C
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • RNU4ATAC spectrum disorder MONDO:0100558
Tags
  • for review
  • non-coding gene
Green Green List (high evidence)
ROBO3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Gaze palsy, familial horizontal, with progressive scoliosis, 1 MIM#607313
Tags
Green Green List (high evidence)
ROGDI
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Kohlschutter-Tonz syndrome MIM#226750
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 42 MIM#616622
Tags
Green Green List (high evidence)
RP2
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Retinitis pigmentosa 2, MIM#312600
Tags
Green Green List (high evidence)
RPE65
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Retinitis pigmentosa 20, MIM#613794
  • Leber congenital amaurosis 2, MIM#204100
Tags
Green Green List (high evidence)
RPGRIP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cone-rod dystrophy 13 MIM#608194, MONDO:0011987, Leber congenital amaurosis MIM#61382,MONDO:0013446
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
3 reviews
2 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
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Coffin-Lowry syndrome, MIM#303600
  • Intellectual developmental disorder, X-linked 19
  • MIM#300844
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 24 MIM#615481
Tags
Green Green List (high evidence)
RSPH4A
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 12, MIM#612650
Tags
Green Green List (high evidence)
RTEL1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 5, MIM#615190
Tags
Green Green List (high evidence)
RTN4IP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Optic atrophy 10 with or without ataxia, impaired intellectual development and seizures MIM#616732
Tags
Green Green List (high evidence)
RTTN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly, short stature, and polymicrogyria with seizures MIM#614833
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
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spastic ataxia, Charlevoix-Saguenay type, MIM#270550
Tags
  • SV/CNV
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Chylomicron retention disease MIM#246700
Tags
Green Green List (high evidence)
SARS2
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Shwachman-Diamond syndrome, MIM#260400
Tags
Green Green List (high evidence)
SBF2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Charcot-Marie-Tooth disease, type 4B2 , MIM#604563, MONDO:0011475
Tags
Green Green List (high evidence)
SC5D
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lathosterolosis, MIM#607330
Tags
Green Green List (high evidence)
SCARB2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epilepsy, progressive myoclonic 4, with or without renal failure, MIM#254900
Tags
Green Green List (high evidence)
SCARF2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Van den Ende-Gupta syndrome, MIM#600920
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 2 MIM#604377
Tags
Green Green List (high evidence)
SCYL1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 21, MIM#616719
Tags
Green Green List (high evidence)
SDCCAG8
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bardet-Biedl syndrome 16 (MIM# 615993)
  • Senior-Loken syndrome 7 (MIM# 613615)
Tags
Green Green List (high evidence)
SDHAF1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex II deficiency, nuclear type 2, MIM#619166
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
1 review
1 green
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739
Tags
Green Green List (high evidence)
SERPINF1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Osteogenesis imperfecta, type VI, MIM# 613982
  • MONDO:0013515
Tags
Green Green List (high evidence)
SERPINH1
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120
Tags
Green Green List (high evidence)
SGCA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099
  • autosomal recessive limb-girdle muscular dystrophy type 2D, MONDO:0011968
Tags
Green Green List (high evidence)
SGCB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286
Tags
Green Green List (high evidence)
SGCD
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287
Tags
Green Green List (high evidence)
SGCG
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • RENI syndrome (MIM#617575)
Tags
Green Green List (high evidence)
SGSH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mucopolysaccharidisis type IIIA (Sanfilippo A), MIM#252900
Tags
Green Green List (high evidence)
SH2D1A
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Frank-ter Haar syndrome, MIM#249420
Tags
Green Green List (high evidence)
SH3TC2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Charcot-Marie-Tooth disease, type 4C, MIM#601596
Tags
Green Green List (high evidence)
SIL1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Marinesco-Sjogren syndrome, 248800 (3)
Tags
Green Green List (high evidence)
SKIV2L
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Trichohepatoenteric syndrome 2, 614602 (3)
Tags
Green Green List (high evidence)
SLC12A1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bartter syndrome, type 1, MIM#601678
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Agenesis of the corpus callosum with peripheral neuropathy, MIM#218000
Tags
Green Green List (high evidence)
SLC13A5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905
Tags
Green Green List (high evidence)
SLC16A1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Monocarboxylate transporter 1 deficiency, MIM#616095
Tags
Green Green List (high evidence)
SLC16A2
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Allan-Herndon-Dudley syndrome, MIM #300523
Tags
Green Green List (high evidence)
SLC17A5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Sialic acid storage disorder, infantile (MIM#269920)
Tags
Green Green List (high evidence)
SLC19A2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Thiamine-responsive megaloblastic anaemia syndrome, MIM#249270
Tags
Green Green List (high evidence)
SLC19A3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Carnitine deficiency, systemic primary, MIM# 212140, MONDO:0008919
Tags
Green Green List (high evidence)
SLC24A5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Albinism, oculocutaneous, type VI, MIM#113750
Tags
Green Green List (high evidence)
SLC25A1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3)
  • Myasthenic syndrome, congenital, 23, presynaptic, 618197 (3)
Tags
Green Green List (high evidence)
SLC25A13
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hyperornithinaemia-hyperammonaemia-homocitrullinemia syndrome, MIM#238970
Tags
Green Green List (high evidence)
SLC25A19
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) (MIM#613710)
  • Microcephaly, Amish type (MIM#607196)
Tags
Green Green List (high evidence)
SLC25A22
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epileptic encephalopathy, early infantile, 3, MIM#609304
Tags
Green Green List (high evidence)
SLC25A38
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Anaemia, sideroblastic, 1, MIM #300751
Tags
Green Green List (high evidence)
SLC25A46
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neuropathy, hereditary motor and sensory, type VIB (MIM# 616505)
  • Pontocerebellar hypoplasia, type 1E (MIM# 619303)
Tags
Green Green List (high evidence)
SLC26A2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • diastrophic dysplasia MONDO:0009107
  • multiple epiphyseal dysplasia MONDO:0016648
  • atelosteogenesis type II MONDO:0009727
  • achondrogenesis type IB MONDO:0010966
Tags
Green Green List (high evidence)
SLC26A3
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Histiocytosis-lymphadenopathy plus syndrome MIM#602782
Tags
Green Green List (high evidence)
SLC2A10
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Arterial tortuosity syndrome, 208050 (3)
Tags
Green Green List (high evidence)
SLC2A2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Fanconi-Bickel syndrome, MIM# 227810
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital cataracts, hearing loss, and neurodegeneration, 614482 (3)
Tags
Green Green List (high evidence)
SLC35A3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Arthrogryposis, impaired intellectual development, and seizures MIM#615553
Tags
Green Green List (high evidence)
SLC35D1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Schneckenbecken dysplasia, MIM#269250
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hypermanganesaemia with dystonia 2, MIM# 617013
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
2 reviews
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Folate malabsorption, hereditary, 229050 (3)
Tags
Green Green List (high evidence)
SLC4A1
1 review
1 green
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
1 review
1 green
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
1 review
1 green
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143
Tags
Green Green List (high evidence)
SLC6A3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Parkinsonism-dystonia, infantile, 613135 (3)
Tags
Green Green List (high evidence)
SLC6A5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hyperekplexia 3, 614618 (3)
Tags
Green Green List (high evidence)
SLC6A8
1 review
1 green
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
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Diarrhea 8, secretory sodium, congenital, 616868 (3), Autosomal recessive
Tags
  • for review
Green Green List (high evidence)
SLC9A6
1 review
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, Christianson type MIM#300243
Tags
Green Green List (high evidence)
SMARCAL1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Schimke immunoosseous dysplasia, 242900 (3)
Tags
Green Green List (high evidence)
SMN1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spinal muscular atrophy-1, MIM# 253300, MONDO:0009669
Tags
  • SV/CNV
Green Green List (high evidence)
SMPD1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Niemann-Pick disease, type A, 257200
  • Niemann-Pick disease, type B, 607616
Tags
Green Green List (high evidence)
SMS
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type MIM#309583
Tags
Green Green List (high evidence)
SNAP29
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 20 MIM#616354
Tags
Green Green List (high evidence)
SOST
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Sclerosteosis 1, OMIM#269500,MONDO:0010016
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
1 review
1 green
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
2 reviews
2 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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epilepsy, hearing loss, and mental retardation syndrome, 616577 (3), Autosomal recessive
Tags
  • new gene name
Green Green List (high evidence)
SPATA7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leber congenital amaurosis 3, MIM #604232
  • Retinitis pigmentosa 94, variable age at onset, autosomal recessive, MIM #604232
Tags
Green Green List (high evidence)
SPEG
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Centronuclear myopathy 5, MIM# 615959
Tags
Green Green List (high evidence)
SPG11
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hereditary spastic paraplegia 11 MONDO:0011445
Tags
Green Green List (high evidence)
SPINK5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Netherton syndrome MIM#256500
Tags
Green Green List (high evidence)
SPINT2
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM#617145
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
1 review
1 green
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
1 review
1 green
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lipoid adrenal hyperplasia, 201710 (3)
Tags
Green Green List (high evidence)
STAT1
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly 7, primary, (MIM# 612703)
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
1 review
1 green
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
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 16 MIM#615768
Tags
Green Green List (high evidence)
STX11
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Haemophagocytic lymphohistiocytosis, familial, 4, MIM#603552
Tags
Green Green List (high evidence)
STXBP2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Haemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease MIM#613101
Tags
Green Green List (high evidence)
SUCLA2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM#612073
Tags
Green Green List (high evidence)
SUCLG1
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Multiple sulfatase deficiency, MIM#272200
Tags
Green Green List (high evidence)
SUOX
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Sulfite oxidase deficiency MIM#272300
Tags
Green Green List (high evidence)
SURF1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 1, MIM# 220110
Tags
  • for review
Green Green List (high evidence)
SYN1
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders, MIM#300491
  • Intellectual developmental disorder, X-linked 50, MIM#300115
Tags
Green Green List (high evidence)
SYP
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 96 (MIM#300802)
Tags
Green Green List (high evidence)
TALDO1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Transaldolase deficiency MIM#606003
Tags
Green Green List (high evidence)
TANGO2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
Tags
  • SV/CNV
Green Green List (high evidence)
TAP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • MHC class I deficiency 1, MIM #604571
Tags
Green Green List (high evidence)
TAT
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Tyrosinemia, type II (MIM#276600)
Tags
Green Green List (high evidence)
TAZ
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Barth syndrome (MIM# 302060)
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Deafness, autosomal recessive 86 MIM#614617
  • Developmental and epileptic encephalopathy 16 MIM#615338
  • DOORS syndrome MIM#220500
  • Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp MIM#608105
  • Myoclonic epilepsy, infantile, familial MIM#605021
Tags
Green Green List (high evidence)
TBCD
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193
Tags
Green Green List (high evidence)
TBCE
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Encephalopathy, progressive, with amyotrophy and optic atrophy MIM#617207
  • Hypoparathyroidism-retardation-dysmorphism syndrome MIM#241410
  • Kenny-Caffey syndrome, type 1 MIM#244460
Tags
Green Green List (high evidence)
TBCK
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Adrenocorticotropic hormone deficiency, 201400 (3)
Tags
Green Green List (high evidence)
TCAP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 7, MIM#601954
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Transcobalamin II deficiency, 275350 (3)
Tags
Green Green List (high evidence)
TCTN2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Joubert syndrome 24, MIM# 616654
  • MONDO:0014724
  • Meckel syndrome 8, MIM# 613885
  • MONDO:0013482
Tags
Green Green List (high evidence)
TCTN3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Joubert syndrome 18, MIM# 614815
  • MONDO:0013896
  • Orofaciodigital syndrome IV, MIM# 258860
  • MONDO:0009794
Tags
Green Green List (high evidence)
TDRD7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cataract 36 MIM#613887
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • You-Hoover-Fong syndrome, MIM#616954
Tags
Green Green List (high evidence)
TF
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Atransferrinaemia MIM#209300
Tags
Green Green List (high evidence)
TGM1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 1, MIM#242300
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
1 review
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 12 MIM#300957
Tags
Green Green List (high evidence)
TIMM8A
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mohr-Tranebjaerg syndrome MIM#304700
Tags
Green Green List (high evidence)
TJP2
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial DNA depletion syndrome 2 (myopathic type) MIM#609560
Tags
Green Green List (high evidence)
TMCO1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1, MIM#213980
Tags
Green Green List (high evidence)
TMEM107
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Orofaciodigital syndrome XVI, MIM#617563
Tags
Green Green List (high evidence)
TMEM126A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Optic atrophy 7 MIM#612989
Tags
Green Green List (high evidence)
TMEM138
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Joubert syndrome 16, MIM#614465
Tags
Green Green List (high evidence)
TMEM165
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Joubert syndrome 2, MIM#608091
  • Meckel syndrome 2, MIM#603194
  • Retinitis pigmentosa 98, MIM#620996
  • ciliopathy MONDO:0005308
Tags
Green Green List (high evidence)
TMEM231
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Joubert syndrome 20, 614970 (3)
Tags
Green Green List (high evidence)
TMEM237
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Joubert syndrome 14, 614424 (3)
Tags
Green Green List (high evidence)
TMEM5
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • COACH syndrome 1 MIM#216360
  • Joubert syndrome 6 MIM#610688
  • Meckel syndrome 3 MIM#607361
  • Nephronophthisis 11 MIM#613550
Tags
Green Green List (high evidence)
TMEM70
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial disease MONDO:0044970
Tags
Green Green List (high evidence)
TMTC3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lissencephaly 8 MIM#617255, MONDO:0014992
Tags
Green Green List (high evidence)
TNFRSF11A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Osteopetrosis, autosomal recessive 7, MIM#612301
Tags
Green Green List (high evidence)
TNFRSF11B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Paget disease of bone 5, juvenile-onset MIM#239000
Tags
Green Green List (high evidence)
TNFSF11
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Osteopetrosis, autosomal recessive 2, MIM#259710
Tags
Green Green List (high evidence)
TNNT1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nemaline myopathy 5A, autosomal recessive, severe infantile, MIM# 605355
  • Nemaline myopathy 5B, autosomal recessive, childhood-onset, MIM# 620386
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Haemolytic anaemia due to triosephosphate isomerase deficiency MIM#615512
Tags
Green Green List (high evidence)
TPK1
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital myopathy 4B, autosomal recessive MIM#609284
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 13 MIM#613192
Tags
Green Green List (high evidence)
TRDN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cardiac arrhythmia syndrome, with or without skeletal muscle weakness MIM#615441
  • Catecholaminergic polymorphic ventricular tachycardia MONDO:0017990
Tags
Green Green List (high evidence)
TREX1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750, MONDO:0009165
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mulibrey nanism MIM#253250
Tags
Green Green List (high evidence)
TRIP11
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Achondrogenesis, type IA, MIM#200600
Tags
  • deep intronic
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Liver failure, transient infantile MIM# 613070
  • acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0013111
Tags
Green Green List (high evidence)
TRNT1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM #616084
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pontocerebellar hypoplasia type 2B, MIM #612389
Tags
Green Green List (high evidence)
TSEN54
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pontocerebellar hypoplasia type 2A (MIM#277470)
  • Pontocerebellar hypoplasia type 4 (MIM#225753)
Tags
Green Green List (high evidence)
TSFM
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Combined oxidative phosphorylation deficiency 3, MIM#610505
Tags
Green Green List (high evidence)
TSHB
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 2 MIM#615157
Tags
Green Green List (high evidence)
TTC21B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Short-rib thoracic dysplasia 4 with or without polydactyly, MIM #613819
Tags
Green Green List (high evidence)
TTC37
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Trichohepatoenteric syndrome 1, 222470 (3)
Tags
Green Green List (high evidence)
TTC7A
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bardet-Biedl syndrome 8, MIM #615985
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM #251270
Tags
Green Green List (high evidence)
TUFM
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Combined oxidative phosphorylation deficiency 4, 610678 (3)
Tags
Green Green List (high evidence)
TULP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leber congenital amaurosis 15, MIM#613843
  • Retinitis pigmentosa 14, MIM#600132
Tags
Green Green List (high evidence)
TUSC3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 7 MIM#611093
Tags
Green Green List (high evidence)
TWNK
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), MIM#271245
  • Perrault syndrome 5, MIM#616138
Tags
Green Green List (high evidence)
TXNL4A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Burn-McKeown syndrome, MIM#608572
Tags
Green Green List (high evidence)
TYK2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 35, MIM #611521
Tags
Green Green List (high evidence)
TYMP
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Oculocutaneous albinism type 1 (MONDO:0018135)
  • Albinism, oculocutaneous, type IA, MIM#203100
  • Albinism, oculocutaneous, type IB, MIM#606952
Tags
Green Green List (high evidence)
TYRP1
1 review
1 green
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
2 reviews
2 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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Developmental and epileptic encephalopathy 44, MIM#617132
Tags
Green Green List (high evidence)
UBE2A
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Intellectual developmental disorder, X-linked syndromic, Nascimento type, MIM #300860
Tags
Green Green List (high evidence)
UBE2T
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Fanconi anaemia, complementation group T, MIM#616435
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Johanson-Blizzard syndrome MIM#243800
Tags
Green Green List (high evidence)
UFM1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukodystrophy, hypomyelinating, 14, 617899 (3), Autosomal recessive
Tags
Green Green List (high evidence)
UGT1A1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport)
  • Crigler-Najjar syndrome, type I MIM#218800
  • Crigler-Najjar syndrome, type II MIM#606785
Tags
Green Green List (high evidence)
UMPS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Orotic aciduria, MIM#258900
Tags
Green Green List (high evidence)
UNC13D
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Haemophagocytic lymphohistiocytosis, familial, 3, MIM#608898
Tags
Green Green List (high evidence)
UNC80
1 review
1 green
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
1 review
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 14 MIM#300676
Tags
Green Green List (high evidence)
UROS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Porphyria, congenital erythropoietic MIM#263700, cutaneous porphyria MONDO:0009902
Tags
Green Green List (high evidence)
USB1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Poikiloderma with neutropenia MIM#604173
Tags
Green Green List (high evidence)
USH1C
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Usher syndrome, type 1C MIM# 276904, MONDO:0010171
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
1 review
1 green
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
2 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
  • Intellectual developmental disorder 99 MIM#300919
  • syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968
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
1 review
1 green
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473 (3)
Tags
  • for review
Green Green List (high evidence)
VLDLR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cerebellar hypoplasia, impaired intellectual development, and dysequilibrium syndrome MIM#224050
Tags
Green Green List (high evidence)
VMA21
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myopathy, X-linked, with excessive autophagy MIM#310440
Tags
Green Green List (high evidence)
VPS11
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukodystrophy, hypomyelinating, 12, 616683 (3), Autosomal recessive
Tags
  • founder
Green Green List (high evidence)
VPS13B
1 review
1 green
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pontocerebellar hypoplasia, type 2E, MIM#615851
Tags
  • founder
Green Green List (high evidence)
VRK1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pontocerebellar hypoplasia type 1A, MIM# 607596, MONDO:0011866
  • Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542
Tags
Green Green List (high evidence)
VSX2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microphthalmia with coloboma 3, MIM# 610092
  • Microphthalmia, isolated 2, MIM# 610093
Tags
Green Green List (high evidence)
WARS2
1 review
1 green
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 MIM#617710
  • Parkinsonism-dystonia 3, childhood-onset MIM#619738
Tags
Green Green List (high evidence)
WAS
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neutropenia, severe congenital, X-linked, MIM#300299
  • Thrombocytopenia, X-linked, MIM#313900
  • Wiskott-Aldrich syndrome, MIM#301000
Tags
Green Green List (high evidence)
WDR19
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nephronophthisis 13, MIM# 614377
  • Senior-Loken syndrome 8, MIM# 616307
  • Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376
  • Cranioectodermal dysplasia 4, MIM# 614378
Tags
Green Green List (high evidence)
WDR34
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Short-rib thoracic dysplasia 11 with or without polydactyly MIM# 615633, MONDO:0014287
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 (3), Autosomal recessive
Tags
Green Green List (high evidence)
WDR60
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM #604317
Tags
Green Green List (high evidence)
WDR73
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Galloway-Mowat syndrome, 251300 (3)
Tags
Green Green List (high evidence)
WDR81
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Wolfram syndrome 1 MIM#222300
Tags
Green Green List (high evidence)
WHRN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Usher syndrome, type 2D, MIM#611383
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type II MIM#201300
Tags
Green Green List (high evidence)
WNT1
1 review
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Fuhrmann syndrome MIM#228930
  • Ulna and fibula, absence of, with severe limb deficiency MIM#276820
Tags
Green Green List (high evidence)
WRAP53
1 review
1 green
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
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Werner syndrome, MIM#277700
Tags
Green Green List (high evidence)
WWOX
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 12, MIM# 614322
  • Developmental and epileptic encephalopathy 28, MIM# 616211
Tags
Green Green List (high evidence)
XIAP
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lymphoproliferative syndorme, X-linked, 2 MIM#300635
Tags
Green Green List (high evidence)
XPA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Xeroderma pigmentosum, group A , MIM#278700
Tags
Green Green List (high evidence)
XPC
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Desbuquois dysplasia 2, MIM#615777
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006
  • Immunodeficiency 48 MIM#269840
Tags
Green Green List (high evidence)
ZBTB24
1 review
1 green
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
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Wieacker-Wolff syndrome MIM#314580
Tags
Green Green List (high evidence)
ZDHHC9
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Syndromic X-linked intellectual disability, Raymond type MIM#300799 MONDO:0010427
Tags
Green Green List (high evidence)
ZFYVE26
1 review
1 green
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
1 review
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612
  • Restrictive dermopathy, lethal, MIM# 275210
Tags
Green Green List (high evidence)
ZMYND10
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 22 (MIM#615444)
Tags
Green Green List (high evidence)
ZNF335
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly 10, primary, autosomal recessive
Tags
Green Green List (high evidence)
ZNF711
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Intellectual developmental disorder, X-linked 97, MIM# 300803
Tags
Green Green List (high evidence)
ZNHIT3
1 review
1 green
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)
AFF2
2 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Intellectual disability, X-linked, FRAXE type 309548
Tags
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
1 review
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
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Biotinidase deficiency (MIM#253260)
Tags
Amber Amber List (moderate evidence)
CERKL
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Retinitis pigmentosa 26 (MIM#608380)
Tags
  • for review
Amber Amber List (moderate evidence)
CNGA3
3 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)
DYNC1I2
2 reviews
1 green
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
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Mackenzie's Mission
Phenotypes
  • Visceral neuropathy, familial, 1, autosomal recessive MIM#243180
Tags
  • for review
Amber Amber List (moderate evidence)
F5
3 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
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • Literature
Phenotypes
  • ?Spondyloepiphyseal dysplasia, Kondo-Fu type, MIM #618392
Tags
Amber Amber List (moderate evidence)
MOGS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Congenital disorder of glycosylation, type IIb, MIM# 606056
Tags
  • for review
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
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718
Tags
  • for review
Amber Amber List (moderate evidence)
PIP5K1C
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Mackenzie's Mission
Phenotypes
  • Lethal congenital contractural syndrome 3, 611369 (3)
Tags
Amber Amber List (moderate evidence)
POLA1
1 review
1 green
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
  • for review
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Intellectual developmental disorder with cardiac defects and dysmorphic facies, MIM#618316
Tags
Amber Amber List (moderate evidence)
TTN
2 reviews
1 green
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Mackenzie's Mission
Phenotypes
  • Nephronophthisis-like nephropathy 1, 613159 (3)
Tags
Red Red List (low evidence)
ABCA4
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • 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
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Pseudoxanthoma elasticum MIM#264800
  • Arterial calcification, generalized, of infancy, 2 MIM#614473
Tags
Red Red List (low evidence)
ACSF3
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Combined malonic and methylmalonic aciduria, MIM#614265
Tags
Red Red List (low evidence)
ACY1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Aminoacylase 1 deficiency, MIM# 609924
Tags
  • for review
Red Red List (low evidence)
ALG2
3 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
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Deafness, dystonia, and cerebral hypomyelination, MIM# 300475
Tags
  • for review
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
3 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
1 review
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
3 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
  • for review
Red Red List (low evidence)
CIB2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Deafness, autosomal recessive 48 MIM#609439
Tags
Red Red List (low evidence)
COG5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Congenital disorder of glycosylation, type IIi, MIM# 613612
Tags
  • for review
Red Red List (low evidence)
COL2A1
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Spondyloperipheral dysplasia, MIM #271700
Tags
Red Red List (low evidence)
CSMD1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • complex neurodevelopmental disorder MONDO:0100038
Tags
  • for review
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
3 reviews
2 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
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Retinitis pigmentosa 28, MIM #606068
Tags
Red Red List (low evidence)
FITM2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Siddiqi syndrome MIM#618635
Tags
Red Red List (low evidence)
FTCD
3 reviews
2 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
3 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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Jaberi-Elahi syndrome, MIM#617988
Tags
  • for review
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
3 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
  • for review
Red Red List (low evidence)
HBA2
3 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
  • for review
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
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hyperoxaluria, primary, type III (MIM#613616)
Tags
Red Red List (low evidence)
HYAL1
2 reviews
2 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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Retinitis pigmentosa 56, MIM #613801
Tags
  • for review
Red Red List (low evidence)
ISCA1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613
Tags
  • for review
Red Red List (low evidence)
ITGA3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748
Tags
  • for review
Red Red List (low evidence)
KCNE1
3 reviews
2 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
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Cirrhosis, cryptogenic, MIM#215600
Tags
Red Red List (low evidence)
KRT85
3 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
2 reviews
2 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
3 reviews
3 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
3 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)
MFRP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Microphthalmia, isolated 5, MIM# 611040
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
3 reviews
3 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
3 reviews
3 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)
PKD1L1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Heterotaxy, visceral, 8, autosomal MIM#617205
Tags
  • for review
Red Red List (low evidence)
PTPN23
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
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
2 reviews
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
3 reviews
3 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
2 reviews
2 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
3 reviews
2 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
  • non-coding gene
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
2 reviews
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Cleft palate with ankyloglossia, MIM #303400
Tags
Red Red List (low evidence)
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Galloway-Mowat syndrome 4, MIM# 617730
Tags
  • for review
Red Red List (low evidence)
TPRKB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Galloway-Mowat syndrome 5, MIM# 617731
Tags
  • for review
Red Red List (low evidence)
TRAC
3 reviews
3 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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862
Tags
  • for review
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
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Sudden infant death with dysgenesis of the testes syndrome, 608800 (3)
Tags
  • review
Red Red List (low evidence)
TUBA8
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Polymicrogyria with optic nerve hypoplasia MONDO:0013172
Tags
Red Red List (low evidence)
UPB1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Beta-ureidopropionase deficiency, MIM# 613161
  • MONDO:0013164
Tags
Red Red List (low evidence)
UQCRC2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 5, 615160 (3)
Tags
  • for review
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
2 reviews
2 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
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Kaya-Barakat-Masson syndrome, MIM# 619125
Tags
  • for review
Red Red List (low evidence)
ZNF469
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Brittle cornea syndrome 1, MIM #229200
Tags
No list No list
AMN
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Imerslund-Grasbeck syndrome 2 (MIM#618882)
Tags
No list No list
APC2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Literature
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 10 MIM#618677
  • Intellectual developmental disorder, autosomal recessive 74 MIM#617169
  • Lissencephaly spectrum disorders MONDO:0018838
Tags
  • for review
No list No list
BRIP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Fanconi Anaemia
Tags
No list No list
DBR1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Tags
No list No list
DLAT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Literature
Phenotypes
  • Leigh syndrome MONDO:0009723
  • Pyruvate dehydrogenase E2 deficiency MIM#245348
Tags
No list No list
HPDL
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Tags
No list No list
OTULIN
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Tags
No list No list
OXCT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Literature
Phenotypes
  • Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050
Tags
No list No list
PIEZO1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Lymphatic malformation 6, MIM#616843
Tags
  • for review
No list No list
SCN1B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 52, MIM#617350
Tags

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