Description
This panel will be routinely applied for clinical indication “R135 Paediatric or syndromic cardiomyopathy” and can also be used as part of the analysis of a broader phenotype, where relevant, using genome or exome data in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R135 Paediatric or syndromic cardiomyopathy'.

The content of this panel is overseen by the NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects regarding the assay(s) available.

If this panel is not being delivered by WGS, CNVs and STRs may not be routinely included in the analysis. Please contact your local Genomic Laboratory Hub for information regarding specific queries.

This panel was originally created by combining the following 8 panels: 
- Mitochondrial disorders (v1.77 code 112)
- Dilated cardiomyopathy - teen and adult (v1.38 code 47)  
- RASopathies (v1.27 code 48)
- Hypertrophic cardiomyopathy - teen and adult (v1.26 code 49)
- Congenital muscular dystrophy (v1.20 code 207)
- Arrythmogenic cardiomyopathy (v1.7 134)
- Left Ventricular Noncompaction Cardiomyopathy (v1.2 code 238) 
- Inborn errors of metabolism (v0.8 code 467)

6 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Denise Williams (Birmingham Women's and Children's NHS Foundation Trust)

    Group: Other NHS organisation
    Workplace: NHS clinical service

  • Rebecca Whittington (South West GLH)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

1080 Entities

135 reviewed, 627 green

List Entity Reviews Mode of inheritance Details
1080 Entitiess
Green Green List (high evidence)
AARS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
Phenotypes
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)
  • Combined oxidative phosphorylation deficiency 8, 614096
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • infantile mitochondrial cardiomyopathy
Tags
Green Green List (high evidence)
AASS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Intellectual disability
  • Hyperlysinemia
  • Hyperlysinaemia (Disorders of histidine, tryptophan or lysine metabolism)
Tags
Green Green List (high evidence)
ABAT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 613163
  • GABA transaminase deficiency (Disorders of neurotransmitter metabolism, gamma-aminobutyrate)
  • mtDNA depletion syndrome
Tags
Green Green List (high evidence)
ABCA1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Tangier disease (Disorders of high density lipoprotein metabolism)
Tags
Green Green List (high evidence)
ABCB11
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Progressive familial intrahepatic cholestasis type 2 (Disorders of bile acid metabolism and transport)
  • Cholestasis, benign recurrent intrahepatic, 2 605479
  • Cholestasis, progressive familial intrahepatic 2 601847
Tags
Green Green List (high evidence)
ABCB4
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cholestasis, intrahepatic, of pregnancy, 3 614972 AD, AR
  • Cholestasis, progressive familial intrahepatic 3 602347 AR
  • Gallbladder disease 1 600803 AD, AR
  • Progressive familial intrahepatic cholestasis type 3 (Disorders of bile acid metabolism and transport)
Tags
Green Green List (high evidence)
ABCB7
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • congenital cerebellar hypoplasia/atrophy (PMID: 26242992).
  • Anemia, sideroblastic, with ataxia
  • Disorders of iron homeostasis
Tags
Green Green List (high evidence)
ABCC9
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Dilated Cardiomyopathy, Dominant
  • Cardiomyopathy, dilated, 1O
Tags
Green Green List (high evidence)
ABCD1
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • X-linked adrenoleukodystrophy (Disorders of peroxisomal alpha-, beta and omega-oxidation)
  • Adrenoleukodystrophy 300100
Tags
Green Green List (high evidence)
ABCD4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblJ type
Tags
Green Green List (high evidence)
ABHD5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Chanarin-Dorfman syndrome 275630
  • Neutral lipid storage disease (Disorders of lipolysis)
Tags
Green Green List (high evidence)
ACAD8
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Isobutyric aciduria (Organic acidurias)
Tags
Green Green List (high evidence)
ACAD9
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency due to ACAD9 deficiency
  • ACAD9 deficiency, 611126
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Isolated complex I deficiency
Tags
Green Green List (high evidence)
ACADM
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Acyl-CoA dehydrogenase, medium chain, deficiency of
  • Medium - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation)
Tags
Green Green List (high evidence)
ACADS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Acyl-CoA dehydrogenase, short-chain, deficiency of
Tags
Green Green List (high evidence)
ACADSB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 2-methylbutyrylglycinuria 610006
  • 2-Methylbutyric aciduria (Organic acidurias)
Tags
Green Green List (high evidence)
ACAT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cytosolic acetoacetyl-CoA thiolase deficiency (Disorders of ketone body metabolism)
  • Fasting intolerance with acidosis, ? residual neurological problems
  • 3-Oxothiolase deficiency (Organic acidurias)
Tags
Green Green List (high evidence)
ACO2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Infantile cerebellar-retinal degeneration, 614559
Tags
Green Green List (high evidence)
ACOX1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peroxisomal acyl-CoA oxidase deficiency
  • Peroxisomal acyl-CoA oxidase 1 deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation)
Tags
Green Green List (high evidence)
ACSF3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Combined methylmalonic and malonic aciduria (Organic acidurias)
  • Combined malonic and methylmalonic aciduria
Tags
Green Green List (high evidence)
ACTC1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
Phenotypes
  • Left Ventricular Noncompaction Cardiomyopathy
  • Hypertrophic Cardiomyopathy
  • Cardiomyopathy, familial hypertrophic, 11
  • Cardiomyopathy, dilated, 1R
  • Left ventricular noncompaction 4
Tags
Green Green List (high evidence)
ACTN2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
Phenotypes
  • Dilated Cardiomyopathy, Dominant
Tags
Green Green List (high evidence)
ADAR
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres syndrome 6
Tags
Green Green List (high evidence)
AFG3L2
0 reviews
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ataxia, spastic, 5, autosomal recessive, 614487
  • Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Spinocerebellar ataxia 28, 610246
  • Disorders of mitochondrial DNA maintenance and integrity
Tags
Green Green List (high evidence)
AGA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Aspartylglucosaminuria
Tags
Green Green List (high evidence)
AGK
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Mitochondrial DNA depletion syndrome 10
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Acylglycerol kinase deficiency (Senger syndrome) (Disorders of complex lipid synthesis)
  • Sengers syndrome, 212350
  • Sengers syndrome 212350
  • Disorders of mitochondrial lipid metabolism
  • Cataract 38, autosomal recessive, 614691
Tags
Green Green List (high evidence)
AGPS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Rhizomelic chondrodysplasia punctata, type 3 600121
  • Rhizomelic chondrodysplasia punctata type 3 (Peroxisomal disorders)
Tags
Green Green List (high evidence)
AGXT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Primary hyperoxaluria type I (Other peroxisomal disorders)
  • Primary hyperoxaluria type I (Disorders of glyoxylate metabolism)
  • Hyperoxaluria, primary, type 1
Tags
Green Green List (high evidence)
AIFM1
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Disorders of mitochondrial apoptosis
  • Cowchock syndrome, 310490
  • Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Combined oxidative phosphorylation deficiency 6, 300816
Tags
Green Green List (high evidence)
AKR1D1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ?4-3-oxysterol 5?-reductase deficiency (Disorders of bile acid biosynthesis)
  • Bile acid synthesis defect, congenital, 2 235555
Tags
Green Green List (high evidence)
ALAD
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Porphyria, acute hepatic 612740
  • Acute hepatic porphyria (Acute neuropathic porphyrias)
  • {Lead poisoning, susceptibility to} 612740
Tags
Green Green List (high evidence)
ALDH18A1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypoprolinaemia, Cutis laxa, autosomal recessive, type IIIa (Disorders of ornithine or proline metabolism)
  • Cutis laxa, autosomal recessive, type IIIA (Delta-1-pyrroline 5 carboxylic acid synthetase deficiency) 219150
Tags
Green Green List (high evidence)
ALDH4A1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Intellectual disability
  • Hyperprolinaemia type II (Disorders of ornithine or proline metabolism)
  • Hyperprolinemia, type II
Tags
Green Green List (high evidence)
ALDH5A1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Succinic semialdehyde dehydrogenase deficiency
Tags
Green Green List (high evidence)
ALDH6A1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Methylmalonate semialdehyde dehydrogenase deficiency 614105
  • 3-Hydroxyisobutyric aciduria (Organic acidurias)
  • Methylmalonate semialdehyde dehydrogenase deficiency (Organic acidurias)
Tags
Green Green List (high evidence)
ALDH7A1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epilepsy, pyridoxine-dependent
Tags
Green Green List (high evidence)
ALDOA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glycogen Storage Disease
  • Aldolase A deficiency (Glycogen storage disorders)
  • Glycogen storage disease XII, 611881
Tags
Green Green List (high evidence)
ALDOB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • acidosis with ketototic hypoglycaemia often hepatomegaly in acute presentation
  • hereditary fructose intolerance
  • Hereditary fructose intolerance (Disorders of fructose metabolism)
Tags
Green Green List (high evidence)
ALG1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mannosyltransferase 1 deficiency (Disorders of protein N-glycosylation)
  • Congenital disorder of glycosylation, type Ik 608540
Tags
Green Green List (high evidence)
ALG11
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ALG11-CDG (Disorders of protein N-glycosylation)
  • Congenital disorder of glycosylation, type Ip 613661
Tags
Green Green List (high evidence)
ALG12
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Ig 607143
  • Mannosyltransferase 8 deficiency (Disorders of protein N-glycosylation)
Tags
Green Green List (high evidence)
ALG3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mannosyltransferase 6 deficiency ALG3-CDG (Disorders of protein N-glycosylation)
  • Congenital disorder of glycosylation, type Id 601110
  • Mannosyltransferase 6 deficiency (Disorders of protein N-glycosylation)
  • ALG3-CDG (Disorders of protein N-glycosylation)
Tags
Green Green List (high evidence)
ALG6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Ic 603147
  • Glucosyltransferase 1 deficiency (Disorders of protein N-glycosylation)
Tags
Green Green List (high evidence)
ALG8
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glucosyltransferase 2 deficiency (Disorders of protein N-glycosylation)
  • Congenital disorder of glycosylation, type Ih 608104
Tags
Green Green List (high evidence)
ALG9
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mannosyltransferase 7-9 deficiency (Disorders of protein N-glycosylation)
  • ALG9-CDG (Disorders of protein N-glycosylation)
  • Congenital disorder of glycosylation, type Il 608776
Tags
Green Green List (high evidence)
AMACR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Alpha-methylacyl-CoA racemase deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation)
  • Alpha-methylacyl-CoA racemase deficiency
Tags
Green Green List (high evidence)
AMN
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Intrinsic factor receptor deficiency due to AMN mutations (Disorders of cobalamin absorption, transport and metabolism)
  • Proteinuric renal disease
  • Unexplained kidney failure in young people
Tags
Green Green List (high evidence)
AMT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glycine encephalopathy
Tags
Green Green List (high evidence)
ANO10
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 10, 613728
Tags
Green Green List (high evidence)
APOA1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Corneal clouding, autosomal recessive
  • Apolipoprotein A-I deficiency (Disorders of high density lipoprotein metabolism)
  • ApoA-I and apoC-III deficiency, combined
  • Amyloidosis, 3 or more types 105200
  • Hypoalphalipoproteinemia 604091
Tags
Green Green List (high evidence)
APOA5
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hyperchylomicronemia, late-onset 144650
  • Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias)
  • {Hypertriglyceridemia, susceptibility to} 145750
Tags
Green Green List (high evidence)
APOC2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hyperlipoproteinemia, type Ib 207750
  • Familial apolipoprotein C - II deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias)
Tags
Green Green List (high evidence)
APOE
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Familial dysbetalipoproteinaemia (Inherited mixed hyperlipidaemias)
  • Hyperlipoproteinemia, type III 617347
  • Lipoprotein glomerulopathy 611771
  • Sea-blue histiocyte disease 269600
Tags
Green Green List (high evidence)
APOPT1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
  • Isolated complex IV deficiency
Tags
  • new-gene-name
Green Green List (high evidence)
APRT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Adenine phosphoribosyltransferase deficiency 614723
  • Adenine phosphoribosyl transferase deficiency (Disorders of purine metabolism)
Tags
Green Green List (high evidence)
APTX
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Ataxia with oculomotor apraxia 1
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920
  • Disorders of ubiquinone metabolism and biosynthesis
Tags
Green Green List (high evidence)
ARG1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Argininaemia (Urea cycle disorders and inherited hyperammonaemias)
  • Argininemia 207800
Tags
Green Green List (high evidence)
ARSA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Metachromatic leukodystrophy
Tags
Green Green List (high evidence)
ARSB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
Phenotypes
  • MPS VI, Maroteaux - Lamy disease (MPS IV, Morquio disease)
  • Mucopolysaccharidosis, Type VI
  • MUCOPOLYSACCHARIDOSIS TYPE 6
  • Mucopolysaccharidosis Type VI
  • Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200
Tags
Green Green List (high evidence)
ARSE
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Chondrodysplasia punctata, X-linked recessive 302950
Tags
Green Green List (high evidence)
ASL
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Argininosuccinic aciduria
  • Argininosuccinic aciduria (Urea cycle disorders and inherited hyperammonaemias)
Tags
Green Green List (high evidence)
ASPA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Canavan disease
Tags
Green Green List (high evidence)
ASS1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Citrullinaemia type1 (Urea cycle disorders and inherited hyperammonaemias)
  • Citrullinemia
Tags
Green Green List (high evidence)
ATAD3A
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Harel-Yoon syndrome 617183
Tags
Green Green List (high evidence)
ATIC
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Intellectual disability
  • AICAR transformylase deficiency (Disorders of purine metabolism)
Tags
Green Green List (high evidence)
ATP13A2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Kufor-Rakeb syndrome
Tags
Green Green List (high evidence)
ATP6AP1
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Immunodeficiency 47
Tags
Green Green List (high evidence)
ATP6V0A2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • V0 subunit A2 of vesicular H(+)-ATPase deficiency (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies)
  • Cutis laxa, autosomal recessive, type IIA 21920
  • Wrinkly skin syndrome 278250
Tags
Green Green List (high evidence)
ATP7A
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Menkes disease
Tags
Green Green List (high evidence)
ATP7B
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Wilson disease
Tags
Green Green List (high evidence)
ATP8B1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cholestasis, progressive familial intrahepatic 1 211600
  • Cholestasis, benign recurrent intrahepatic 243300 AR
  • Cholestasis, intrahepatic, of pregnancy, 1 147480 AD
  • Byler disease (Disorders of bile acid metabolism and transport)
Tags
Green Green List (high evidence)
ATPAF2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273
  • Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Mitochondrial Diseases
  • Isolated complex V deficiency
  • Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type
Tags
Green Green List (high evidence)
AUH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 3-methylglutaconic aciduria, type I
  • Methylglutaconic aciduria type I (Organic acidurias)
Tags
Green Green List (high evidence)
B3GALNT2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies typeA 11
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11
  • congenital muscular dystrophies
Tags
Green Green List (high evidence)
B3GALT6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ehlers-Danlos syndrome, progeroid type, 2
Tags
Green Green List (high evidence)
B3GAT3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
Phenotypes
  • Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600
  • B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
Green Green List (high evidence)
B3GLCT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peters-plus syndrome 261540
  • O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
  • O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
Green Green List (high evidence)
B4GALT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Beta-1,4-galactosyltransferase 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
  • Congenital disorder of glycosylation, type IId 607091
Tags
Green Green List (high evidence)
B4GALT7
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ehlers-Danlos syndrome with short stature and limb anomalies 130070
  • B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies, Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
  • B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
  • Beta-1,4-galactosyltransferase 7 deficiency (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
Tags
Green Green List (high evidence)
B4GAT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287
Tags
Green Green List (high evidence)
BAAT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypercholanemia, familial
Tags
Green Green List (high evidence)
BAG3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1HH
Tags
Green Green List (high evidence)
BCKDHA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Maple syrup urine disease, type Ia
  • BCKD E1 alpha subunit of deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria)
Tags
Green Green List (high evidence)
BCKDHB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Maple syrup urine disease, type Ib
  • BCKD E1 beta subunit of deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria)
Tags
Green Green List (high evidence)
BCKDK
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Branched-chain ketoacid dehydrogenase kinase deficiency
Tags
Green Green List (high evidence)
BCS1L
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Mitochondrial Diseases
  • Isolated complex III deficiency
  • Mitochondrial Respiratory Chain Complex III Deficiency
  • Mitochondrial complex III deficiency, nuclear type 1, 124000
  • Leigh syndrome, 256000
  • Bjornstad syndrome, 262000
  • GRACILE syndrome, 603358
Tags
Green Green List (high evidence)
BOLA3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hyperglycinaemia, non-ketotic (Baker (2014) Brain 137,366)
  • Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Multiple mitochondrial dysfunctions syndrome 2, 614299
  • Multiple Mitochondrial Dysfunctions Syndrome
  • Disorders of iron homeostasis
Tags
Green Green List (high evidence)
BRAF
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
Phenotypes
  • syndromic HCM
  • LEOPARD Syndrome
  • Cardiofaciocutaneous Syndrome
  • LEOPARD syndrome 3
  • Noonan Syndrome
  • Cardio-facio-cutaneous syndrome
Tags
Green Green List (high evidence)
BTD
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Biotinidase deficiency (Disorders of biotin metabolism)
  • Biotinidase deficiency
  • lactic acidosis with seizures and eczema,immune deficiency
Tags
Green Green List (high evidence)
C12orf65
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Spastic paraplegia 55, autosomal recessive, 615035
  • Combined oxidative phosphorylation deficiency 7, 613559
Tags
Green Green List (high evidence)
C19orf12
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism)
  • Neurodegeneration with brain iron accumulation 4, 614298
  • Mitochondrial Membrane Protein-Associated Neurodegeneration
Tags
Green Green List (high evidence)
CA5A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hyperammonemia due to carbonic anhydrase VA deficiency
  • Hyperammonemia (Urea cycle disorders and inherited hyperammonaemias)
Tags
Green Green List (high evidence)
CAT
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Acatalasaemia (Other peroxisomal disorders)
  • Acatalasemia, 614097
Tags
Green Green List (high evidence)
CBL
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
Phenotypes
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
Tags
Green Green List (high evidence)
CBS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Homocystinuria, B6-responsive and nonresponsive types
Tags
Green Green List (high evidence)
CCDC115
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type IIo 616828
Tags
Green Green List (high evidence)
CHCHD10
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
  • ?Myopathy, isolated mitochondrial, autosomal dominant, 616209
  • Spinal muscular atrophy, Jokela type
Tags
Green Green List (high evidence)
CHKB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Choline kinase deficiency (Disorders of complex lipid synthesis)
  • Congenital Muscular Dystrophy, CKHB-related
  • Muscular dystrophy, congenital, megaconial type, 602541
Tags
Green Green List (high evidence)
CHST14
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ehlers-Danlos syndrome, musculocontractural type 1 601776
  • CHST14-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
Green Green List (high evidence)
CHST3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spondyloepiphyseal dysplasia with congenital joint dislocations 143095
  • CHST3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
Green Green List (high evidence)
CHST6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • CHST6-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
  • Macular corneal dystrophy 217800
Tags
Green Green List (high evidence)
CHSY1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Temtamy preaxial brachydactyly syndrome 605282
  • CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
Green Green List (high evidence)
CLN3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 3, 204200
Tags
Green Green List (high evidence)
CLN5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 5, 256731
Tags
Green Green List (high evidence)
CLN6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 6, 601780
  • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
Tags
Green Green List (high evidence)
CLN8
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 8
Tags
Green Green List (high evidence)
CLPB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 3-methylglutaconic aciduria with the following: cataract, renal cysts and nephrocalcinosis
  • cataract, neutropenia, epilepsy
  • congenital microcephaly and severe encephalopathy
  • progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder
Tags
Green Green List (high evidence)
CLPP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Perrault syndrome 3, 614129
Tags
Green Green List (high evidence)
CNNM2
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypomagnesaemia type 6, renal (Disorder of magnesium metabolism)
  • Hypomagnesemia 6, renal 613882
  • Hypomagnesemia, seizures, and mental retardation 616418
Tags
Green Green List (high evidence)
COG1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Component of COG complex 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
  • Congenital disorder of glycosylation, type IIg 611209
Tags
Green Green List (high evidence)
COG4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Component of COG complex 4 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
  • Congenital disorder of glycosylation, type IIj 613489
Tags
Green Green List (high evidence)
COG5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type IIi 613612
  • Component of COG complex 5 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
Tags
Green Green List (high evidence)
COG6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Component of COG complex 6 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
  • Shaheen syndrome 615328
  • Congenital disorder of glycosylation, type IIl 614576
Tags
Green Green List (high evidence)
COG7
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Component of COG complex 7 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
  • Congenital disorder of glycosylation, type IIe 608779
Tags
Green Green List (high evidence)
COG8
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type IIh 611182
  • Component of COG complex 8 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
Tags
Green Green List (high evidence)
COL12A1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Bethlem myopathy 2
  • Ullrich congenital muscular dystrophy 2
Tags
Green Green List (high evidence)
COL6A1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Bethlem myopathy, 158810
  • Ullrich congenital muscular dystrophy, 254090
Tags
Green Green List (high evidence)
COL6A2
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Bethlem myopathy, 158810
  • Ullrich congenital muscular dystrophy, 254090
Tags
Green Green List (high evidence)
COL6A3
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Bethlem myopathy, 158810
  • Ullrich congenital muscular dystrophy, 254090
Tags
Green Green List (high evidence)
COQ2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • {Multiple system atrophy, susceptibility to}, 146500
  • Coenzyme Q10 deficiency
  • Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of ubiquinone metabolism and biosynthesis
  • Coenzyme Q10 deficiency, primary, 1, 607426
Tags
Green Green List (high evidence)
COQ4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of ubiquinone metabolism and biosynthesis
  • Coenzyme Q10 deficiency, primary, 7
Tags
Green Green List (high evidence)
COQ6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Coenzyme Q10 deficiency, primary, 6, 614650
  • Steroid-resistant nephrotic syndrome
  • Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of ubiquinone metabolism and biosynthesis
Tags
Green Green List (high evidence)
COQ8A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Coenzyme Q10 deficiency
  • Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of ubiquinone metabolism and biosynthesis
  • Coenzyme Q10 deficiency, primary, 4, 612016
Tags
Green Green List (high evidence)
COQ8B
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nephrotic syndrome, type 9
Tags
Green Green List (high evidence)
COQ9
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Coenzyme Q10 deficiency, primary, 5, 614654
  • Coenzyme Q10 deficiency
  • Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of ubiquinone metabolism and biosynthesis
Tags
Green Green List (high evidence)
COX10
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome coxidase deficiency
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex IV Deficiency
  • Isolated complex IV deficiency
  • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
Tags
Green Green List (high evidence)
COX14
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
  • Isolated complex IV deficiency
  • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
Tags
Green Green List (high evidence)
COX15
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex IV Deficiency
  • Isolated complex IV deficiency
  • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Leigh syndrome due to cytochrome c oxidase deficiency, 256000
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119
Tags
Green Green List (high evidence)
COX20
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
  • Isolated complex IV deficiency
  • Complex IV Mitochondrial respiratory chain disorders caused by nuclear variants only
  • OXPHOS assembly factors
Tags
Green Green List (high evidence)
COX6A1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Charcot-Marie-Tooth disease, recessive intermediate D, 616039
Tags
Green Green List (high evidence)
COX6B1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex IV Deficiency
  • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Isolated complex IV deficiency
  • Cytochrome c oxidase deficiency, 220110
Tags
Green Green List (high evidence)
COX7B
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Linear skin defects with multiple congenital anomalies
  • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Isolated complex IV deficiency
  • Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies, 300887
  • MICROPHTHALMIA WITH LINEAR SKIN LESIONS
Tags
Green Green List (high evidence)
CP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cerebellar ataxia, 604290
  • Hemosiderosis, systemic, due to aceruloplasminemia, 604290
Tags
Green Green List (high evidence)
CPOX
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Harderoporphyria 121300
  • Coproporphyria 121300
  • Hereditary coproporphyria (Acute neuropathic porphyrias)
Tags
Green Green List (high evidence)
CPS1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
Phenotypes
  • Carbamoylphosphate synthetase I deficiency
  • Carbamoylphosphate synthetase I deficiency (Urea cycle disorders and inherited hyperammonaemias)
Tags
Green Green List (high evidence)
CPT1A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Carnitine palmitoyltransferase I (CPTI) deficiency (Disorders of carnitine transport and the carnitine cycle)
  • CPT deficiency, hepatic, type IA
Tags
Green Green List (high evidence)
CPT2
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • South West GLH
Phenotypes
  • HCM, mixed
  • Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle)
  • Carnitine palmitoyltransferase II (CPT2) deficiency (neonatal & infantile forms)
  • DCM
  • CPT deficiency, hepatic, type II 600649
  • Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia
  • CPT II deficiency, lethal neonatal 608836
Tags
Green Green List (high evidence)
CSRP3
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 12
  • Cardiomyopathy, dilated, 1M
Tags
Green Green List (high evidence)
CTH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cystathioninuria, 219500
Tags
Green Green List (high evidence)
CTNS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cystinosis, atypical nephropathic
Tags
Green Green List (high evidence)
CTSA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Galactosialidosis
Tags
Green Green List (high evidence)
CTSD
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 10, 610127
Tags
Green Green List (high evidence)
CTSK
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pycnodysostosis
Tags
Green Green List (high evidence)
CUBN
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Intrinsic factor receptor deficiency due to CUBN mutations (Disorders of cobalamin absorption, transport and metabolism)
  • Megaloblastic anemia-1, Finnish type
  • Proteinuric renal disease
  • Unexplained kidney failure in young people
Tags
Green Green List (high evidence)
CYC1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Isolated complex III deficiency
  • Mitochondrial complex III deficiency, nuclear type 6, 615453
Tags
Green Green List (high evidence)
CYP27A1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cerebrotendinous xanthomatosis
Tags
Green Green List (high evidence)
D2HGDH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • D-2-hydroxyglutaric aciduria
Tags
Green Green List (high evidence)
DAG1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • congenital muscular dystrophies, MDDGA9 (WWS), also hyperckaemia and MDDG C9
  • Walker-Warburg syndrome
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 616538
  • congenital muscular dystrophies
Tags
Green Green List (high evidence)
DARS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypomyelination with brainstem and spinal cord involvement and leg spasticity
Tags
Green Green List (high evidence)
DARS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Tags
Green Green List (high evidence)
DBH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Dopamine beta-hydroxylase deficiency
Tags
Green Green List (high evidence)
DBT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Dihydrolipoamide branched chain transacylase deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria)
  • Maple syrup urine disease, type II
Tags
Green Green List (high evidence)
DDC
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Aromatic L-amino acid decarboxylase deficiency
Tags
Green Green List (high evidence)
DES
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1I,
Tags
Green Green List (high evidence)
DGUOK
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Deoxyguanosine kinase deficiency (Disorders of purine metabolism)
  • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880
  • Mitochondrial DNA Depletion Syndrome
  • Disorders of mitochondrial DNA maintenance and integrity
  • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Tags
Green Green List (high evidence)
DHFR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Dihydrofolate reductase deficiency (Disorders of folate metabolism and transport)
  • Megaloblastic anemia due to dihydrofolate reductase deficiency
Tags
Green Green List (high evidence)
DHTKD1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 2-Oxoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism)
  • 2-Aminoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism)
  • 2-aminoadipic and 2-oxoadipic aciduria, 204750
Tags
Green Green List (high evidence)
DLAT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Dihydrolipoyl transacetylase deficiency (Disorders of pyruvate metabolism)
  • Pyruvate dehydrogenase E2 deficiency, 245348
Tags
Green Green List (high evidence)
DLD
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Dihydrolipoyl dehydrogenase deficiency (Disorders of pyruvate metabolism)
  • Leigh syndrome
  • Dihydrolipoamide dehydrogenase deficiency, 246900
Tags
Green Green List (high evidence)
DMD
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
  • South West GLH
Phenotypes
  • Dilated Cardiomyopathy, X-Linked
  • Duchenne muscular dystrophy, 310200
  • Becker muscular dystrophy, 300376
  • Cardiomyopathy, dilated, 3B
Tags
Green Green List (high evidence)
DNA2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6
  • 615156
  • Disorders of mitochondrial DNA maintenance and integrity
Tags
Green Green List (high evidence)
DNAJC12
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hyperphenylalaninemia, mild, non-BH4-deficient, 617384
Tags
Green Green List (high evidence)
DNAJC19
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
Phenotypes
  • 3-methylglutaconic aciduria, type V, 610198
  • Disorders of the mitochondrial import system
  • dilated cardiomyopathy with ataxia syndrome
  • 3-methylglutaconic aciduria, type V
Tags
Green Green List (high evidence)
DNAJC5
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350
Tags
Green Green List (high evidence)
DNM1L
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388
  • Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission
  • Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Tags
Green Green List (high evidence)
DOLK
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Congenital disorder of glycosylation, type Im 610768
  • syndromic DCM
  • Congenital disorder of glycosylation, type Im
  • Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Tags
Green Green List (high evidence)
DPAGT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 13, with tubular aggregates 614750
  • UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation)
  • Congenital disorder of glycosylation, type Ij 608093
Tags
Green Green List (high evidence)
DPM1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • congenital muscular dystrophies
  • Congenital disorder of glycosylation, type Ie
  • Congenital disorder of glycosylation, type Ie 608799
  • GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Tags
Green Green List (high evidence)
DPM2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Iu 615042
  • musclular dystrophy dystroglycanopathy syndrome with severe epilepsy
  • Congenital disorder of glycosylation, type Iu 615042
Tags
Green Green List (high evidence)
DPYD
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Dihydropyrimidine dehydrogenase deficiency 274270
  • Dihydropyrimidine dehydrogenase deficiency (Disorders of pyrimidine metabolism)
Tags
Green Green List (high evidence)
DPYS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Dihydropyrimidinase deficiency (Disorders of pyrimidine metabolism)
Tags
Green Green List (high evidence)
DSC2
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair
  • Arrhythmogenic right ventricular dysplasia 11
Tags
Green Green List (high evidence)
DSG2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1BB,
  • Arrhythmogenic right ventricular dysplasia 10
Tags
Green Green List (high evidence)
DSP
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 8
  • Dilated cardiomyopathy with woolly hair and keratoderma
Tags
Green Green List (high evidence)
DYM
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388
  • Dyggve-Melchior-Clausen disease, 223800
  • Smith-McCort dysplasia, 607326
Tags
Green Green List (high evidence)
EARS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 12, 614924
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Tags
Green Green List (high evidence)
EBP
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • MEND syndrome 300960 XLR
  • Chondrodysplasia punctata, X-linked dominant 302960 XLD
  • X-linked dominant chondrodysplasia punctata 2 (Disorders of sterol biosynthesis)
Tags
Green Green List (high evidence)
ECHS1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
Tags
Green Green List (high evidence)
ELAC2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • infantile hypertrophic cardiomyopathy, lactic acidosis, and isolated complex I deficiency
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 17, 615440
Tags
Green Green List (high evidence)
ENO3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ?Glycogen storage disease XIII
Tags
Green Green List (high evidence)
EPG5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Vici syndrome, 242840
  • IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
Tags
Green Green List (high evidence)
EPM2A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epilepsy, progressive myoclonic 2A (Lafora)
Tags
Green Green List (high evidence)
ETFA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
Phenotypes
  • Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II)
  • Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia
  • Glutaric acidemia IIA
  • Electron transfer flavoprotein deficiency, alpha chain (Disorders of mitochondrial fatty acid oxidation)
  • HCM
Tags
Green Green List (high evidence)
ETFB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
Phenotypes
  • Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II)
  • Glutaric acidemia IIB
  • Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia
  • Electron transfer flavoprotein deficiency, beta chain (Disorders of mitochondrial fatty acid oxidation)
  • HCM
Tags
Green Green List (high evidence)
ETFDH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
Phenotypes
  • Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II)
  • Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia
  • HCM
  • GLUTARIC ACIDURIA TYPE 2C
  • Disorders of ubiquinone metabolism and biosynthesis
  • Glutaric acidemia IIC
  • Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation)
Tags
Green Green List (high evidence)
ETHE1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ethylmalonic encephalopathy, 602473
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Isolated complex IV deficiency
  • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Ethylmalonic encephalopathy
Tags
Green Green List (high evidence)
EXT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
  • Exostoses, multiple, type 1 133700
Tags
Green Green List (high evidence)
EXT2
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
  • Exostoses, multiple, type 2 133701
  • ?Seizures, scoliosis, and macrocephaly syndrome 616682
Tags
Green Green List (high evidence)
EYA4
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1J
Tags
Green Green List (high evidence)
FA2H
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fatty acid 2-hydroxylase deficiency (Disorders of complex lipid synthesis)
  • Early onset dystonia
  • Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism)
  • Hereditary spastic paraplegia
Tags
Green Green List (high evidence)
FAH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
Phenotypes
  • Tyrosinemia, type I
  • Liver failure, vomiting, renal tubulopathy
  • Tyrosinaemia type 1 (fumarylactoacetase deficiency)
  • HCM
Tags
Green Green List (high evidence)
FAR1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154
Tags
Green Green List (high evidence)
FARS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Combined oxidative phosphorylation deficiency 14, 614946
Tags
Green Green List (high evidence)
FASTKD2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex IV Deficiency
  • Mitochondrial complex IV deficiency, 220110
  • Isolated complex IV deficiency
  • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
Tags
Green Green List (high evidence)
FBP1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glycogen Storage Disease
  • Glycogen Storage Disorders- Liver
  • Fructose-1,6-bisphosphatase deficiency (Disorders of gluconeogenesis)
Tags
Green Green List (high evidence)
FBXL4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • fatal encephalopathy, lactic acidosis, and severe MTDNA depletion in muscle.
  • Disorders of mitochondrial DNA maintenance and integrity
  • Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471
Tags
Green Green List (high evidence)
FH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fumarase deficiency, 606812
  • Fumarase deficiency (Disorders of the citric acid cycle)
Tags
Green Green List (high evidence)
FHL1
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
  • South West GLH
Tags
Green Green List (high evidence)
FKRP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fukutin-related protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5
  • Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153
  • Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155
Tags
Green Green List (high evidence)
FKTN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Fukuyama congenital muscular dystrophy
  • Cardiomyopathy, dilated, 1X
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
  • Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800
  • Fukuyama Congenital Muscular Dystrophy
  • Dilated Cardiomyopathy, Recessive
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588
  • Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
Green Green List (high evidence)
FLAD1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Multiple acyl-CoA dehydrogenase deficiencies (MADDs)
Tags
Green Green List (high evidence)
FMO3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Trimethylaminuria (Disorders and variants of enzymes that oxidise xenobiotics other than cytochrome P450)
Tags
Green Green List (high evidence)
FOLR1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cerebral folate deficiency due to FOLR1 deficiency (Disorders of folate metabolism and transport)
  • Neurodegeneration due to cerebral folate transport deficiency, 613068
Tags
Green Green List (high evidence)
FOXRED1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial Diseases
  • syndromic HCM
  • Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010
  • Isolated complex I deficiency
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Mitochondrial Respiratory Chain Complex I Deficiency
Tags
Green Green List (high evidence)
FUCA1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fucosidosis, 230000
Tags
Green Green List (high evidence)
FUT8
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation with defective fucosylation, 618005
Tags
Green Green List (high evidence)
G6PC
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glycogen Storage Disease Type I
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disease
  • Glycogen Storage Disease Ia
  • Glycogen storage disease Ia, 232200
  • Glycogen storage disease type 1a, von Gierke (Glycogen storage disorders)
  • Glycogen storage disease Ia
  • fasting intolerance with enlarged liver, renal tubular disease
Tags
Green Green List (high evidence)
G6PC3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Dursun syndrome
Tags
Green Green List (high evidence)
GAA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • MetBioNet
  • South West GLH
Phenotypes
  • Glycogen storage disease type II (Pompe disease)
  • Glycogen storage disease II, 232300
  • HCM, mixed
  • syndromic HCM
  • Hypotonia, muscle weakness, progressive respiratory failure
Tags
Green Green List (high evidence)
GABRG2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Febrile seizures, familial, 8 611277
  • Epilepsy, generalized, with febrile seizures plus, type 3 611277
  • {Epilepsy, childhood absence, susceptibility to, 2} 607681
Tags
Green Green List (high evidence)
GALC
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Krabbe disease
Tags
Green Green List (high evidence)
GALE
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Intellectual disability
  • Uridine diphosphate galactose-4-epimerase deficiency (Disorders of galactose metabolism)
Tags
Green Green List (high evidence)
GALK1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Galactokinase deficiency with cataracts, 230200
Tags
Green Green List (high evidence)
GALNS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
Phenotypes
  • MPS IVA, Morquio A disease (MPS IV, Morquio disease)
  • Mucopolysaccharidosis, Type IV
  • MUCOPOLYSACCHARIDOSIS TYPE 4A
  • Mucopolysaccharidosis Type IVA
  • Mucopolysaccharidosis IVA, 253000
Tags
Green Green List (high evidence)
GALNT3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Polypeptide N-acetylgalactosaminyl transferase deficiency (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)
  • Tumoral calcinosis, hyperphosphatemic, familial 211900
Tags
Green Green List (high evidence)
GALT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Intellectual disability
  • Classical galactosaemia (Disorders of galactose metabolism)
  • Galactosemia
  • Cataracts
Tags
Green Green List (high evidence)
GARS
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Charcot-Marie-Tooth disease, type 2D
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Neuropathy, distal hereditary motor, type VA
Tags
Green Green List (high evidence)
GATM
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Arginine:glycine amidinotransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism)
  • arginine:glycine amidinotransferase deficiency
  • Cerebral creatine deficiency syndrome 3, 612718
Tags
Green Green List (high evidence)
GBA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Gaucher disease, perinatal lethal, 608013
  • Gaucher disease, type III, 231000
  • Gaucher disease, type II, 230900
  • Gaucher disease, type I, 230800
  • Gaucher disease
  • Gaucher disease, type IIIC, 231005
  • Gaucher disease (Sphingolipidoses)
Tags
Green Green List (high evidence)
GBE1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • South West GLH
Phenotypes
  • Glycogen storage disease type IV, Andersen (Glycogen storage disorders)
  • Polyglucosan body disease, adult form, 263570
  • Glycogen Storage Disorders- Muscle
  • DCM
  • Hypertrophic-hypocontractile cardiomyopathy
  • failure to thrive in addition to hepatomegaly van have neuromuscular adult form ( polyglucosan body ideas which presents with neurogenic bladder, gait difficulties
  • hypotonia, exercise intolerance, polyglucosan bodies in affected tissues
  • Glycogen storage disease IV, 232500
  • Glycogen Storage Disease Type IV
  • Glycogen storage disease type IV (brancher enzyme deficiency), neuromuscular form
  • Glycogen Storage Disease
  • Glycogen Storage Disorders- Liver
Tags
Green Green List (high evidence)
GCDH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glutaricaciduria, type I, 231670
Tags
Green Green List (high evidence)
GCH1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia
Tags
Green Green List (high evidence)
GCLC
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Gamma-glutamylcysteine synthetase deficiency (Disorders of the gamma-glutamyl cycle)
  • Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency 230450
Tags
Green Green List (high evidence)
GDAP1
0 reviews
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Charcot Marie Tooth disease (CMT4A)
  • Charcot-Marie-Tooth disease, type 4A
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis
  • Charcot-Marie-Tooth disease, recessive intermediate, A
  • Charcot-Marie-Tooth disease, axonal, type 2K
Tags
Green Green List (high evidence)
GFER
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Disorders of the mitochondrial import system
  • Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076
  • Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Tags
Green Green List (high evidence)
GFM1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 1, 609060
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Tags
Green Green List (high evidence)
GFPT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Myasthenia, congenital, 12, with tubular aggregates(Disorders of protein N-glycosylation) 610542
  • Congenital myasthenic sydrome (Disorders of protein N-glycosylation)
Tags
Green Green List (high evidence)
GIF
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Intrinsic factor deficiency
Tags
  • new-gene-name
Green Green List (high evidence)
GLA
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
  • London South GLH
  • MetBioNet
  • South West GLH
Phenotypes
  • syndromic HCM
  • Limb pain, angiokeratom
  • HCM
  • Fabry disease, cardiac variant, 301500
  • Fabry disease, 301500
  • Fabry disease (Sphingolipidoses)
  • HCM is a late complication in adults, also found in female carriers
  • Fabry Disease
  • Fabry disease
Tags
Green Green List (high evidence)
GLB1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • South West GLH
Phenotypes
  • GM1-gangliosidosis, type III, 230650
  • syndromic HCM
  • MPS IVB, Morquio B disease (MPS IV, Morquio disease)
  • Mucopolysaccharidosis, Type IV
  • Mucopolysaccharidosis type IVB (Morquio), 253010
  • GM1-gangliosidosis, type II, 230600
  • GM1-gangliosidosis, type I, 230500
  • GM1-gangliosidosis (Sphingolipidoses)
  • Mucopolysaccharidosis Type IVB
  • MUCOPOLYSACCHARIDOSIS TYPE 4B
Tags
Green Green List (high evidence)
GLDC
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glycine encephalopathy, 605899
Tags
Green Green List (high evidence)
GLRA1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
Phenotypes
  • Hyperekplexia, hereditary 1, 149400
Tags
Green Green List (high evidence)
GLRX5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950
  • Disorders of iron homeostasis
Tags
Green Green List (high evidence)
GLUD1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Hyperinsulinemic hypoglycemia and hyperammonemia (Urea cycle disorders and inherited hyperammonaemias)
  • Hyperinsulinism-hyperammonemia syndrome, 606762
Tags
Green Green List (high evidence)
GLYCTK
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • D-glyceric aciduria 220120
  • D-glyceric aciduria (Disorders of serine, glycine or glycerate metabolism)
Tags
Green Green List (high evidence)
GM2A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • GM2-gangliosidosis, AB variant, 272750
Tags
Green Green List (high evidence)
GMPPB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14
Tags
Green Green List (high evidence)
GNE
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nonaka myopathy 605820
  • ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
  • UDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
  • Sialuria (Other lysosomal disorders)
Tags
Green Green List (high evidence)
GNPAT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Rhizomelic chondrodysplasia punctata type 2 (Peroxisomal disorders)
  • Rhizomelic chondrodysplasia punctata, type 2 222765
Tags
Green Green List (high evidence)
GNPTAB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mucolipidosis, Type II
  • Mucolipidosis, Type III Alpha/Beta
  • Mucolipidosis III alpha/beta
  • Mucolipidosis II, I-cell disease (Other lysosomal disorders)
  • Mucolipidosis II alpha/beta
Tags
Green Green List (high evidence)
GNPTG
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mucolipidosis III, Pseudo-Hurler polydystrophy (Other lysosomal disorders)
  • mucolipidpsis type III complementation group C
  • Mucolipidosis, Type III Gamma
  • Mucolipidosis III gamma
Tags
Green Green List (high evidence)
GNS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
Phenotypes
  • Mucopolysaccharidosis, Type III
  • Mucopolysaccharidosis type IIID, 252940
  • MPS IIID, Sanfilippo D disease (Mucopolysaccharidoses)
  • Mucopolysaccharidosis Type III
  • Mucopolysaccharidosis Type IIID
Tags
Green Green List (high evidence)
GPD1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypertriglyceridemia, transient infantile, 614480
Tags
Green Green List (high evidence)
GPHN
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Molybdenum cofactor deficiency C 615501
  • Mo cofactor deficiency, complementation group C (Disorders of molybdenum cofactor metabolism)
  • epileptic encephalopathy
Tags
Green Green List (high evidence)
GRHPR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Primary hyperoxaluria type II (Disorders of glyoxylate metabolism)
  • Hyperoxaluria, primary, type II
Tags
Green Green List (high evidence)
GSS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glutathione synthetase (GSS) deficiency
  • Glutathione synthetase deficiency 266130
  • Glutathione synthetase deficiency with 5-oxoprolinuria
  • Glutathione synthetase deficiency without 5-oxoprolinuria
  • Pyroglutamic aciduria
  • 5-oxoprolinuria
  • Hemolytic anemia due to glutathione synthetase deficiency 231900
  • Glutathione synthetase deficiency (Disorders of the gamma-glutamyl cycle)
  • Fanconi nephropathy
Tags
Green Green List (high evidence)
GTPBP3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 23
  • mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis and encephalopathy
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Tags
Green Green List (high evidence)
GUSB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • South West GLH
Phenotypes
  • Mucopolysaccharidosis VII, 253220
  • syndromic HCM
  • MUCOPOLYSACCHARIDOSIS TYPE 7
  • Mucopolysaccharidosis Type VII
  • Mucopolysaccharidosis, Type VII
  • MPS VII, Sly disease (MPS IV, Morquio disease)
Tags
Green Green List (high evidence)
GYG1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ?Glycogen storage disease XV
Tags
Green Green List (high evidence)
GYS1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glycogen storage disease 0, muscle
Tags
Green Green List (high evidence)
GYS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glycogen Storage Disease
  • Glycogen Storage Disease Type 0, Liver
  • Glycogen Storage Disorders- Liver
  • Glycogen storage disease type 0a, liver (Glycogen storage disorders)
  • Glycogen storage disease, type 0, 240600
  • fasting intolerance without enlarged liver
Tags
Green Green List (high evidence)
HAAO
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Multiple congenital malformations
  • VACTERL-like phenotype
Tags
Green Green List (high evidence)
HADHA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
Phenotypes
  • Trifunctional protein deficiency 609015
  • Mitochondrial Trifunctional Protein deficiency
  • HCM
  • Liver disease, hypotonia, hypoketotic hypoglycaemia, neuropathy, lactic acidosis, retinopathy, hypoparathyroidism
  • Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation)
  • Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)
Tags
Green Green List (high evidence)
HADHB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • MetBioNet
Phenotypes
  • Trifunctional protein deficiency 609015
  • Mitochondrial Trifunctional Protein deficiency
  • HCM
  • Liver disease, hypotonia, hypoketotic hypoglycaemia, neuropathy, lactic acidosis, retinopathy, hypoparathyroidism
  • Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation)
  • Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)
Tags
Green Green List (high evidence)
HAMP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hemochromatosis, type 2B 613313
  • Hereditary haemochromatosis Type 2 (Disorder of iron metabolism)
Tags
Green Green List (high evidence)
HCCS
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Linear skin defects with multiple congenital anomalies 1
  • Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Microphthalmia, syndromic 7, 309801
Tags
Green Green List (high evidence)
HCFC1
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) 309541
Tags
Green Green List (high evidence)
HEXA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • GM2-gangliosidosis, several forms, 272800
  • Tay-Sachs disease, 272800
Tags
Green Green List (high evidence)
HEXB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Sandhoff disease, infantile, juvenile, and adult forms, 268800
Tags
Green Green List (high evidence)
HFE
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
Phenotypes
  • Haemochromatosis
  • HCM
  • DCM
  • Hypertrophic-hypocontractile cardiomyopathy
  • Hemochromatosis, 235200
  • Hereditary haemochromatosis Type 1 (Disorder of iron metabolism)
  • Iron overload, liver disease, diabetes, hypogonadism
  • Hemochromatosis
Tags
Green Green List (high evidence)
HFE2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hemochromatosis, type 2A, 602390
  • Hereditary haemochromatosis Type 2 (Disorder of iron metabolism)
Tags
  • new-gene-name
Green Green List (high evidence)
HGD
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Alkaptonuria
Tags
Green Green List (high evidence)
HGSNAT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
Phenotypes
  • Retinitis Pigmentosa 73
  • Mucopolysaccharidosis, Type III
  • Mucopolysaccharidosis Type IIIC
  • Mucopolysaccharidosis Type III
  • MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses)
  • Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930
Tags
Green Green List (high evidence)
HIBCH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620
  • HIBCH deficiency
  • Methacrylic aciduria (Organic acidurias)
Tags
Green Green List (high evidence)
HLCS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Holocarboxylase synthetase deficiency
  • Holocarboxylase synthetase deficiency, 253270
  • lactic acidosis with seizures and eczema, immune deficiency
  • Holocarboxylase synthetase deficiency (Disorders of biotin metabolism)
Tags
Green Green List (high evidence)
HMBS
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Acute intermittent porphyria (Acute neuropathic porphyrias)
  • Porphyria, acute intermittent, nonerythroid variant, 176000
  • Porphyria, acute intermittent, 176000
Tags
Green Green List (high evidence)
HMGCL
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 3-Hydroxy-3-methyl glutaric aciduria (Organic acidurias)
  • 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
  • HMG-CoA lyase deficiency, 246450
  • HMGCLD
Tags
Green Green List (high evidence)
HMGCS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • HMG-CoA synthase-2 deficiency
Tags
Green Green List (high evidence)
HOGA1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hyperoxaluria Type III (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Hyperoxaluria, primary, type III 613616
Tags
Green Green List (high evidence)
HPRT1
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • HPRT-related gout
Tags
Green Green List (high evidence)
HRAS
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
Phenotypes
  • Costello syndrome
  • syndromic HCM
Tags
Green Green List (high evidence)
HSD17B4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • D-bifunctional protein deficiency, 261515
  • Peroxisomal D-bifunctional protein deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation)
Tags
Green Green List (high evidence)
HSD3B7
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 3- ?-hydroxysterol ?5-oxidoreductase/isomerase deficiency (Disorders of bile acid biosynthesis)
  • Bile acid synthesis defect, congenital, 1, 607765
Tags
Green Green List (high evidence)
HSPD1
0 reviews
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Leukodystrophy, hypomyelinating, 4, 612233
  • Spastic paraplegia 13, autosomal dominant, 605280
Tags
Green Green List (high evidence)
HTRA2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 3-methylglutaconic aciduria, type VIII 617248
Tags
Green Green List (high evidence)
HYAL1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ?Mucopolysaccharidosis type IX, 601492
  • MPS IX, Natowicz (MPS IV, Morquio disease)
Tags
Green Green List (high evidence)
IARS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • CAGSSS - Cataracts (CA), growth hormone deficiency (G), sensory neuropathy (S), sensorineural hearing loss (S), and skeletal dysplasia (S)
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • No OMIM phenotype
Tags
Green Green List (high evidence)
IBA57
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ?Multiple mitochondrial dysfunctions syndrome 3, 615330
  • ?Spastic paraplegia 74, autosomal recessive
Tags
Green Green List (high evidence)
IDH2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • D-2-hydroxyglutaric aciduria 2
  • Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias)
  • D-2-hydroxyglutaric aciduria 2, 613657
Tags
Green Green List (high evidence)
IDS
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • MetBioNet
Phenotypes
  • Mucopolysaccharidosis Type II
  • MUCOPOLYSACCHARIDOSIS TYPE 2
  • Mucopolysaccharidosis II, 309900
  • MPS II, Hunter disease (Mucopolysaccharidoses)
Tags
Green Green List (high evidence)
IDUA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
Phenotypes
  • Mucopolysaccharidosis type 1H/S
  • Mucopolysaccharidosis, Type I
  • Mucopolysaccharidosis Ih, 607014
  • Scheie syndrome
  • Mucopolysaccharidosis type 1S
  • Mucopolysaccharidosis Ih/s, 607015
  • Mucopolysaccharidosis Is, 607016
  • Mucopolysaccharidosis type 1H
  • MPS I, Hurler, Scheie disease (Mucopolysaccharidoses)
  • Hurler-Scheie syndrome
  • Hurler syndrome
Tags
Green Green List (high evidence)
IER3IP1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome, 614231
  • MEDS
Tags
Green Green List (high evidence)
INPP5K
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy
  • Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
Tags
Green Green List (high evidence)
17q11.2 recurrent region (includes NF1) Loss
ISCA-37431-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors
  • 613675
  • NF1 MICRODELETION SYNDROME
  • Chromosome 17q11.2 deletion syndrome, 1.4Mb
  • NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME
  • dysmorphic features, cardiac anomalies and mental retardation
Tags
Green Green List (high evidence)
2p21 region (includes PREPL and SLC3A1) Loss
ISCA-37440-Loss
Region
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • hyperphagia
  • lactic acidemia
  • mild/moderate mental retardation
  • Hypotonia-cystinuria syndrome (HCS)
  • 606407
  • failure to thrive
  • nephrolithiasis
  • rapid weight gain in late childhood
  • minor facial dysmorphism
  • growth hormone deficiency
  • facial dysmorphism
  • respiratory chain complex IV deficiency
  • cystinuria
  • neonatal seizures
  • 2p21 deletion syndrome
  • hypotonia
  • severe somatic and developmental delay
Tags
Green Green List (high evidence)
ISPD
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 614643
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
  • Congenital Muscular Dystrophy, alpha-dystroglycan related
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
  • 616052
  • Walker-Warburg syndrome (WWS)
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
Tags
  • new-gene-name
Green Green List (high evidence)
ITGA7
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204
  • Congenital Muscular Dystrophy, ITGA7-related
Tags
Green Green List (high evidence)
ITPA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Inosine triphosphatase deficiency (Disorders of purine metabolism)
  • Epileptic encephalopathy, early infantile, 35, 616647
  • [Inosine triphosphatase deficiency], 613850
Tags
Green Green List (high evidence)
IVD
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections.
  • Isovaleric acidemia
  • Isovaleric aciduria (Organic acidurias)
Tags
Green Green List (high evidence)
JUP
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 12
Tags
Green Green List (high evidence)
KARS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 89, 613916
  • Charcot-Marie-Tooth disease, recessive intermediate, B, 613641
  • Charcot-Marie-Tooth disease, recessive intermediate, B (Lysyl-tRNA synthetase mutations) (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Tags
Green Green List (high evidence)
KRAS
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
Phenotypes
  • Cardiofaciocutaneous syndrome 2
  • Cardiofaciocutaneous Syndrome
  • Cardio-Facio-Cutaneous syndrome
  • Noonan syndrome 3
  • Noonan syndrome
  • CFC syndrome
Tags
Green Green List (high evidence)
KYNU
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism)
  • VACTERL-like phenotype
  • multiple congenital malformations
  • ?Hydroxykynureninuria, 236800
Tags
Green Green List (high evidence)
L2HGDH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • L-2-hydroxyglutaric aciduria, 236792
Tags
Green Green List (high evidence)
LAMA2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital Muscular Dystrophy, LAMA2-related
  • Muscular dystrophy, congenital merosin-deficient, 607855
  • Muscular dystrophy, congenital, due to partial LAMA2 deficiency 607855
Tags
Green Green List (high evidence)
LAMP2
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
  • London South GLH
  • South West GLH
Phenotypes
  • syndromic HCM
  • Danon disease
Tags
Green Green List (high evidence)
LARGE1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital Muscular Dystrophy, alpha-dystroglycan related
  • N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154
  • N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
Tags
Green Green List (high evidence)
LARS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Perrault syndrome
  • Perrault syndrome 4, 615300
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Tags
Green Green List (high evidence)
LCAT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Norum disease/LCAT deficiency, 245900
  • Fish-eye disease, 136120
  • Lecithin cholesterol acyltransferase deficiency (Disorders of high density lipoprotein metabolism)
Tags
Green Green List (high evidence)
LCT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Lactose intolerance (Other carbohydrate disorders)
  • Lactase deficiency, congenital, 223000
Tags
Green Green List (high evidence)
LDB3
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated 1C
  • Left ventricular noncompaction 3, with or without dilated cardiomyopathy
Tags
Green Green List (high evidence)
LDHA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glycogen Storage Disease
  • Glycogen storage disease XI, 612933
  • Muscle LDH deficiency (Glycogen storage disorders)
Tags
Green Green List (high evidence)
LIAS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462
  • Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Tags
Green Green List (high evidence)
LIPA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cholesteryl ester storage disease
Tags
Green Green List (high evidence)
LIPT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Lipoyltransferase 1 deficiency
Tags
Green Green List (high evidence)
LMBRD1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblF type, 277380
Tags
Green Green List (high evidence)
LMNA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
Phenotypes
  • Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic
  • Congenital Muscular Dystrophy, LMNA-related (Dominant)
  • Emery-Dreifuss muscular dystrophy 2, AD, 181350
  • Cardiomyopathy, dilated, 1A
Tags
Green Green List (high evidence)
LONP1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373)
Tags
Green Green List (high evidence)
LPIN1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Myoglobinuria, acute recurrent, autosomal recessive
Tags
Green Green List (high evidence)
LPL
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Lipoprotein lipase deficiency, 238600
  • Combined hyperlipidemia, familial, 144250
  • Familial lipoprotein lipase deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias)
Tags
Green Green List (high evidence)
LRPPRC
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leigh syndrome, French-Canadian type, 220111
  • Mitochondrial Diseases
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Isolated complex IV deficiency
  • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
Tags
Green Green List (high evidence)
LZTR1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • cardiac findings
  • increased nuchal translucency
  • Noonan syndrome 10
  • Prenatal hydrops
Tags
Green Green List (high evidence)
MAN1B1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • MAN1B1-CDG (Disorders of protein N-glycosylation)
  • Mental retardation, autosomal recessive 15 614202
Tags
Green Green List (high evidence)
MAN2B1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mannosidosis, alpha-, types I and II
Tags
Green Green List (high evidence)
MAP2K1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
Phenotypes
  • syndromic HCM
  • LEOPARD syndrome
  • Cardiofaciocutaneous Syndrome
  • Cardio-Facio-Cutaneous syndrome
  • CFC syndrome
  • Cardiofaciocutaneous syndrome 3
  • ?Noonan syndrome
Tags
Green Green List (high evidence)
MAP2K2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
Phenotypes
  • syndromic HCM
  • Cardiofaciocutaneous Syndrome
  • Cardio-Facio-Cutaneous syndrome
  • CFC syndrome
  • Cardio-Facio-Cutaneous syndrome type 4
  • Cardiofaciocutaneous syndrome 4
Tags
Green Green List (high evidence)
MARS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spastic Ataxia 13, autosomal recessive, 611390
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • ?Combined oxidative phosphorylation deficiency 25
Tags
Green Green List (high evidence)
MAT1A
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency
Tags
Green Green List (high evidence)
MCCC1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200
Tags
Green Green List (high evidence)
MCCC2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210
Tags
Green Green List (high evidence)
MCEE
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Methylmalonyl-CoA epimerase deficiency (Organic acidurias)
  • Methylmalonyl-CoA epimerase deficiency
  • metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections
Tags
Green Green List (high evidence)
MCOLN1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mucolipidosis, Type IV
  • Mucolipidosis IV (Other lysosomal disorders)
Tags
Green Green List (high evidence)
MDH2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, early infantile, 51 617339
Tags
Green Green List (high evidence)
MFF
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 2
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086
  • Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Tags
Green Green List (high evidence)
MFN2
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Charcot-Marie-Tooth disease, type 2A2, 609260
  • Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of mitochondrial DNA maintenance and integrity
  • Hereditary motor and sensory neuropathy VI, 601152
Tags
Green Green List (high evidence)
MFSD8
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 7 610951
Tags
Green Green List (high evidence)
MGAT2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • N-acetylglucosaminyltransferase deficiency (Disorders of protein N-glycosylation)
  • Congenital disorder of glycosylation, type IIa 212066
Tags
Green Green List (high evidence)
MGME1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Mitochondrial DNA depletion syndrome 11, 615084
  • Disorders of mitochondrial DNA maintenance and integrity
Tags
Green Green List (high evidence)
MICU1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • myopathy with extrapyramidal signs
Tags
Green Green List (high evidence)
MLYCD
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
Phenotypes
  • Mild clinical features. Developmental delay, epilepsy
  • HCM
  • Hypertrophic-hypocontractile cardiomyopathy
  • Malonic aciduria
  • Malonyl-CoA decarboxylase deficiency
  • malonic aciduria
  • Malonyl-CoA decarboxylase deficiency (Organic acidurias)
  • 3.5.1. Malonyl CoA decarboxylase deficiency Other disorders of fatty acid and ketone body metabolism)
Tags
Green Green List (high evidence)
MMAA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Methylmalonic aciduria, vitamin B12-responsive 251100
  • Defect in adenosylcobalamin synthesis-cbl A (Disorders of cobalamin absorption, transport and metabolism)
Tags
Green Green List (high evidence)
MMAB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Defect in adenosylcobalamin synthesis-cbl B (Disorders of cobalamin absorption, transport and metabolism)
  • Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type 251110
Tags
Green Green List (high evidence)
MMACHC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • South West GLH
Phenotypes
  • DCM
  • Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap
  • Hypertrophic-hypocontractile cardiomyopathy
  • Methylmalonic aciduria
  • Methylmalonic aciduria and homocystinuria, cblC type, 277400
Tags
Green Green List (high evidence)
MMADHC
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Homocystinuria, cblD type, variant 1
Tags
Green Green List (high evidence)
MOGS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type IIb 606056
  • MOGS-CDG (Disorders of protein N-glycosylation)
  • Congenital disorder of glycosylation, type IIb, 606056
  • (MOGS-CDG (Disorders of protein N-glycosylation))
Tags
Green Green List (high evidence)
MPDU1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type If 609180
  • Lec35 deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Tags
Green Green List (high evidence)
MPI
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Ib 602579
  • Phosphomannose isomerase deficiency (Disorders of protein N-glycosylation)
Tags
Green Green List (high evidence)
MPV17
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA Depletion Syndrome
  • Disorders of mitochondrial DNA maintenance and integrity
  • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 -3
Tags
Green Green List (high evidence)
MRPS22
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 5, 611719
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Tags
Green Green List (high evidence)
MSMO1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Sterol-C4-methyl oxidase deficiency (Disorders of sterol biosynthesis)
  • (SC4MOL DEFICIENCY)
  • Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834
Tags
Green Green List (high evidence)
MT-ATP6
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MT-ATP8
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY
  • CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
  • BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO
Tags
Green Green List (high evidence)
MT-CO1
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • CYTOCHROME c OXIDASE I DEFICIENCY
  • SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC
  • LEBER OPTIC ATROPHY
  • MYOGLOBINURIA, RECURRENT
  • CYTOCHROME c OXIDASE DEFICIENCY
Tags
Green Green List (high evidence)
MT-CO2
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • CYTOCHROME c OXIDASE DEFICIENCY
Tags
Green Green List (high evidence)
MT-CO3
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MT-CYB
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • ENCEPHALOMYOPATHY, MITOCHONDRIAL
  • CARDIOMYOPATHY, INFANTILE HISTIOCYTOID
  • MULTISYSTEM DISORDER
  • EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA
  • PARKINSONISM/MELAS OVERLAP SYNDROME
  • EXERCISE INTOLERANCE
  • LEBER OPTIC ATROPHY
Tags
Green Green List (high evidence)
MT-ND1
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • MELAS SYNDROME
  • MITOCHONDRIAL COMPLEX I DEFICIENCY
  • LEBER OPTIC ATROPHY
  • DYSTONIA, ADULT-ONSET
  • DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
  • SUDDEN INFANT DEATH SYNDROME
Tags
Green Green List (high evidence)
MT-ND2
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • MITOCHONDRIAL COMPLEX I DEFICIENCY
  • LEBER OPTIC ATROPHY
  • LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
Tags
Green Green List (high evidence)
MT-ND3
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • MITOCHONDRIAL COMPLEX I DEFICIENCY
  • LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
Tags
Green Green List (high evidence)
MT-ND4
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • MELAS SYNDROME
  • LEBER OPTIC ATROPHY AND DYSTONIA
  • LEBER OPTIC ATROPHY
  • MITOCHONDRIAL COMPLEX I DEFICIENCY
Tags
Green Green List (high evidence)
MT-ND4L
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • LEBER OPTIC ATROPHY
Tags
Green Green List (high evidence)
MT-ND5
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • MELAS SYNDROME
  • LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
  • LEBER OPTIC ATROPHY
  • MERRF SYNDROME
Tags
Green Green List (high evidence)
MT-ND6
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • MELAS SYNDROME
  • STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA
  • LEBER OPTIC ATROPHY AND DYSTONIA
  • LEBER OPTIC ATROPHY
  • LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
Tags
Green Green List (high evidence)
MT-RNR1
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • DEAFNESS, AMINOGLYCOSIDE-INDUCED
  • DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
  • AUDITORY NEUROPATHY
  • CARDIOMYOPATHY, RESTRICTIVE
Tags
Green Green List (high evidence)
MT-TA
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • MITOCHONDRIAL MYOPATHY
  • MYOTONIC DYSTROPHY-LIKE MYOPATHY
Tags
Green Green List (high evidence)
MT-TC
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • MELAS SYNDROME
  • DYSTONIA, MITOCHONDRIAL
Tags
Green Green List (high evidence)
MT-TD
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • MITOCHONDRIAL MYOPATHY, ISOLATED
Tags
Green Green List (high evidence)
MT-TE
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS
  • DIABETES AND DEAFNESS, MATERNALLY INHERITED
  • MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
Tags
Green Green List (high evidence)
MT-TF
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MT-TG
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MT-TH
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MT-TI
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MT-TK
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MT-TL1
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MT-TL2
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MT-TM
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MT-TN
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MT-TP
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MT-TQ
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MT-TR
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MT-TS1
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MT-TS2
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MT-TV
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MT-TW
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MT-TY
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MTHFR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Methylenetetrahydrofolate reductase deficiency (Disorders of folate metabolism and transport)
  • Homocystinuria due to MTHFR deficiency
Tags
Green Green List (high evidence)
MTO1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 10, 614702
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • infantile hypertrophic cardiomyopathy and lactic acidosis.
Tags
Green Green List (high evidence)
MTR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Homocystinuria-megaloblastic anemia, cblG complementation type
Tags
Green Green List (high evidence)
MTRR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Homocystinuria-megaloblastic anemia, cbl E type
Tags
Green Green List (high evidence)
MTTP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Familial abetalipoproteinaemia (Inherited hypolipidaemias)
  • (ACANTHOCYTOSIS, BASSEN-KORNZWEIG SYNDROME, MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY, MTP DEFICIENCY)
  • Abetalipoproteinemia, 200100
Tags
Green Green List (high evidence)
MUT
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • South West GLH
Phenotypes
  • Methylmalonic aciduria
  • DCM
  • Hypertrophic-hypocontractile cardiomyopathy
  • metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections.
  • Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap
  • Methylmalonic aciduria, mut(0) type 251000
  • Methylmalonyl-CoA mutase deficiency (Organic acidurias)
Tags
  • new-gene-name
Green Green List (high evidence)
MYBPC3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
Phenotypes
  • Hypertrophic cardiomyopathy
  • Left ventricular noncompaction 10,
  • Cardiomyopathy, dilated, 1MM
  • Cardiomyopathy, familial hypertrophic, 4,
Tags
Green Green List (high evidence)
MYH6
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 14
  • Cardiomyopathy, dilated, 1EE
Tags
Green Green List (high evidence)
MYH7
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
Phenotypes
  • Left ventricular noncompaction 5
  • Cardiomyopathy, familial hypertrophic, 1,
  • Hypertrophic cardiomyopathy
  • Cardiomyopathy, dilated, 1S
Tags
Green Green List (high evidence)
MYL2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 10
Tags
Green Green List (high evidence)
MYL3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 8,
Tags
Green Green List (high evidence)
MYMK
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Carey-Fineman-Ziter syndrome
Tags
Green Green List (high evidence)
NAGA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Kanzaki disease
Tags
Green Green List (high evidence)
NAGLU
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
Phenotypes
  • Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920
  • MUCOPOLYSACCHARIDOSIS TYPE 3B
  • Mucopolysaccharidosis, Type III
  • Mucopolysaccharidosis Type III
  • Mucopolysaccharidosis Type IIIB
  • MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses)
Tags
Green Green List (high evidence)
NAGS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • N-Acetylglutamate synthetase deficiency (Urea cycle disorders and inherited hyperammonaemias)
  • N-acetylglutamate synthase deficiency
Tags
Green Green List (high evidence)
NARS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 24
Tags
Green Green List (high evidence)
NDUFA1
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Isolated complex I deficiency
Tags
Green Green List (high evidence)
NDUFA10
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial Diseases
  • Isolated complex I deficiency
  • Leigh syndrome, 256000
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Mitochondrial Respiratory Chain Complex I Deficiency
Tags
Green Green List (high evidence)
NDUFA11
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Isolated complex I deficiency
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Mitochondrial Respiratory Chain Complex I Deficiency
Tags
Green Green List (high evidence)
NDUFA2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leigh syndrome due to mitochondrial complex I deficiency, 256000
  • Mitochondrial Diseases
  • Isolated complex I deficiency
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Mitochondrial Respiratory Chain Complex I Deficiency
Tags
Green Green List (high evidence)
NDUFAF1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Isolated complex I deficiency
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Mitochondrial Respiratory Chain Complex I Deficiency
Tags
Green Green List (high evidence)
NDUFAF2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency, 252010
  • Isolated complex I deficiency
  • Leigh syndrome, 256000
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Mitochondrial Respiratory Chain Complex I Deficiency
Tags
Green Green List (high evidence)
NDUFAF3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Isolated complex I deficiency
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Mitochondrial Respiratory Chain Complex I Deficiency
Tags
Green Green List (high evidence)
NDUFAF4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Isolated complex I deficiency
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Mitochondrial Respiratory Chain Complex I Deficiency
Tags
Green Green List (high evidence)
NDUFAF5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex 1 deficiency, 252010
  • Mitochondrial Diseases
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Isolated complex I deficiency
Tags
Green Green List (high evidence)
NDUFAF6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leigh syndrome due to mitochondrial complex I deficiency, 256000
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Isolated complex I deficiency
Tags
Green Green List (high evidence)
NDUFB11
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Linear skin defects with multiple congenital anomalies 3
  • microphthalmia with linear skin defects syndrome
  • histiocytoid cardiomyopathy
  • Isolated complex I deficiency
Tags
Green Green List (high evidence)
NDUFB3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency, 252010
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Isolated complex I deficiency
Tags
Green Green List (high evidence)
NDUFS1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Isolated complex I deficiency
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Mitochondrial Respiratory Chain Complex I Deficiency
Tags
Green Green List (high evidence)
NDUFS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Isolated complex I deficiency
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Mitochondrial Respiratory Chain Complex I Deficiency
Tags
Green Green List (high evidence)
NDUFS3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial Diseases
  • Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010
  • Isolated complex I deficiency
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Mitochondrial Respiratory Chain Complex I Deficiency
Tags
Green Green List (high evidence)
NDUFS4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leigh syndrome, 256000
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Isolated complex I deficiency
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Mitochondrial Respiratory Chain Complex I Deficiency
Tags
Green Green List (high evidence)
NDUFS6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial Diseases
  • Isolated complex I deficiency
  • Complex I, mitochondrial respiratory chain, deficiency of, 252010
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Mitochondrial Respiratory Chain Complex I Deficiency
Tags
Green Green List (high evidence)
NDUFS7
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial Diseases
  • Isolated complex I deficiency
  • Leigh syndrome, 256000
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Mitochondrial Respiratory Chain Complex I Deficiency
Tags
Green Green List (high evidence)
NDUFS8
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leigh syndrome due to mitochondrial complex I deficiency, 256000
  • Mitochondrial Diseases
  • Isolated complex I deficiency
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Mitochondrial Respiratory Chain Complex I Deficiency
Tags
Green Green List (high evidence)
NDUFV1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Isolated complex I deficiency
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Mitochondrial Respiratory Chain Complex I Deficiency
Tags
Green Green List (high evidence)
NDUFV2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency, 252010
  • Isolated complex I deficiency
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Mitochondrial Respiratory Chain Complex I Deficiency
Tags
Green Green List (high evidence)
NEU1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Sialidosis type II
  • Sialidosis, type I
  • Sialidosis (Oligosaccharidoses)
  • Mucolipidosis, Type I
  • Sialidosis
Tags
Green Green List (high evidence)
NEXN
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 20,
  • Cardiomyopathy, dilated, 1CC
Tags
Green Green List (high evidence)
NF1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
Phenotypes
  • Noonan syndrome
  • Neurofibromatosis syndrome 1
  • Neurofibromatosis-Noonan Syndrome
  • Neurofibromatosis Noonan syndrome
Tags
Green Green List (high evidence)
NFU1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 1
  • Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Tags
Green Green List (high evidence)
NGLY1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • OrphaNet: ORPHA404454
  • Congenital disorder of deglycosylation 615273
  • Alacrimia-choreoathetosis-liver dysfunction syndrome
  • OMIM:615273
Tags
Green Green List (high evidence)
NHLRC1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epilepsy, progressive myoclonic 2B (Lafora)
Tags
Green Green List (high evidence)
NPC1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Niemann-Pick disease, type C1
Tags
Green Green List (high evidence)
NPC2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Niemann-Pick disease type C2, 607625
Tags
Green Green List (high evidence)
NRAS
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
Phenotypes
  • Noonan syndrome 6
  • CFC Syndrome
  • Noonan syndrome
  • Cardio-Facio-cutanenous syndrome
  • syndromic HCM
Tags
Green Green List (high evidence)
NSDHL
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Congenital hemidysplasia with ichtyosiform erythroderma and limb defects (Disorders of sterol biosynthesis)
  • CHILD syndrome 308050 XLD
  • CK syndrome 300831 XLR
Tags
Green Green List (high evidence)
NT5C3A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Anemia, hemolytic, due to UMPH1 deficiency, 266120
  • Uridine-5 -monophosphate hydrolase superactivity (Disorders of pyrimidine metabolism)
Tags
Green Green List (high evidence)
NUBPL
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Isolated complex I deficiency
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Mitochondrial Respiratory Chain Complex I Deficiency
Tags
Green Green List (high evidence)
OAT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ornithine aminotransferase deficiency (Disorders of ornithine or proline metabolism)
  • Gyrate atrophy of choroid and retina with or without ornithinemia
Tags
Green Green List (high evidence)
OPA1
0 reviews
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Optic atrophy plus syndrome, 125250
  • {Glaucoma, normal tension, susceptibility to}, 606657
  • Disorders of mitochondrial DNA maintenance and integrity
  • Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
  • Optic atrophy 1, 165500
  • Mitochondrial DNA Depletion Syndrome
  • Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Tags
Green Green List (high evidence)
OPA3
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Methylglutaconic aciduria type III, Costeff syndrome (Organic acidurias)
  • 3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300
Tags
Green Green List (high evidence)
OTC
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Ornithine transcarbamylase deficiency, 311250
  • Ornithine transcarbamylase deficiency (Urea cycle disorders and inherited hyperammonaemias)
Tags
Green Green List (high evidence)
OXCT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Succinyl CoA:3-oxoacid CoA transferase deficiency
  • severe ketosis on fasting often ketotic in fed state no hepatomegaly
  • Succinyl-CoA:3-Oxoacid-CoA transferase (SCOT) deficiency (Disorders of ketone body metabolism)
  • Succinyl CoA:3-oxoacid CoA transferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Tags
Green Green List (high evidence)
PAH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Phenylketonuria
Tags
Green Green List (high evidence)
PC
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pyruvate carboxylase deficiency (Disorders of gluconeogenesis)
  • lactic acidosis, hypotonia, encephalopathy
  • Pyruvate carboxylase deficiency 266150
  • Pyruvate carboxylase deficiency
Tags
Green Green List (high evidence)
PCBD1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, D
Tags
Green Green List (high evidence)
PCCA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • South West GLH
Phenotypes
  • Propionic acidemia
  • Propionic aciduria (Organic acidurias)
  • metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections
  • Propionicacidemia
  • Propionic aciduria
  • DCM
  • Hypertrophic-hypocontractile cardiomyopathy
  • Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap
  • Propionicacidemia 606054
Tags
Green Green List (high evidence)
PCCB
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • South West GLH
Phenotypes
  • Propionic acidemia
  • Propionic aciduria (Organic acidurias)
  • Propionicacidemia
  • Propionic aciduria
  • DCM
  • Hypertrophic-hypocontractile cardiomyopathy
  • as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections)
  • Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap
  • Propionicacidemia 606054
Tags
Green Green List (high evidence)
PDHA1
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Pyruvate dehydrogenase E1? subunit deficiency (Disorders of pyruvate metabolism)
  • Leigh syndrome, X-linked, 308930
  • Pyruvate dehydrogenase E1-alpha deficiency, 312170
Tags
Green Green List (high evidence)
PDHB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pyruvate dehydrogenase E1? subunit deficiency (Disorders of pyruvate metabolism)
  • Pyruvate dehydrogenase E1-beta deficiency, 614111
Tags
Green Green List (high evidence)
PDHX
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Lacticacidemia due to PDX1 deficiency
  • Pyruvate dehydrogenase E3 binding protein deficiency (Disorders of pyruvate metabolism)
Tags
Green Green List (high evidence)
PDP1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pyruvate dehydrogenase phosphatase deficiency, 608782
  • Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism)
Tags
Green Green List (high evidence)
PDSS1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Coenzyme Q10 deficiency, primary, 2, 614651
  • Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of ubiquinone metabolism and biosynthesis
Tags
Green Green List (high evidence)
PDSS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Coenzyme Q10 deficiency, primary, 3, 614652
  • Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of ubiquinone metabolism and biosynthesis
Tags
Green Green List (high evidence)
PET100
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leigh syndrome
  • Mitochondrial complex IV deficiency, 220110
  • Isolated complex IV deficiency
Tags
Green Green List (high evidence)
PEX1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 1B (NALD/IRD) 601539
  • Peroxisome biogenesis disorder 1A (Zellweger) 214100
Tags
Green Green List (high evidence)
PEX10
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 6A (Zellweger) 614870
  • Peroxisome biogenesis disorder 6B 614871
Tags
Green Green List (high evidence)
PEX11B
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peroxisome biogenesis disorder 14B
Tags
Green Green List (high evidence)
PEX12
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 3A (Zellweger), 614859
  • Peroxisome biogenesis disorder 3B
Tags
Green Green List (high evidence)
PEX13
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 11A (Zellweger)
Tags
Green Green List (high evidence)
PEX14
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 13A (Zellweger)
Tags
Green Green List (high evidence)
PEX16
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of peroxisome biogenesis
  • Zellweger Syndrome
  • Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
  • Peroxisome biogenesis disorder 8A, (Zellweger), 614876
  • Peroxisomal biogenesis disorders
Tags
Green Green List (high evidence)
PEX19
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 12A (Zellweger)
Tags
Green Green List (high evidence)
PEX2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 5A (Zellweger), 614866
  • Peroxisome biogenesis disorder 5B, 614867
Tags
Green Green List (high evidence)
PEX26
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 7A (Zellweger) 61487
  • Peroxisome biogenesis disorder 7B 614873
Tags
Green Green List (high evidence)
PEX3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 10A (Zellweger) 614882
Tags
Green Green List (high evidence)
PEX5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 2A (Zellweger)
Tags
Green Green List (high evidence)
PEX6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 4B 614863
  • Peroxisome biogenesis disorder 4A (Zellweger) 614862
Tags
Green Green List (high evidence)
PEX7
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peroxisome biogenesis disorder 9B 614879
  • Rhizomelic chondrodysplasia punctata, type 1
  • Rhizomelic chondrodysplasia punctata type 1 (Peroxisomal disorders)
Tags
Green Green List (high evidence)
PFKM
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glycogen storage disease VII
Tags
Green Green List (high evidence)
PGAP2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hyperphosphatasia with mental retardation syndrome 3 614207
  • PGAP2-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Tags
Green Green List (high evidence)
PGAP3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hyperphosphatasia with mental retardation syndrome 4
Tags
Green Green List (high evidence)
PGK1
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Phosphoglycerate kinase 1 deficiency
Tags
Green Green List (high evidence)
PGM1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glycogen Storage Disease
  • Congenital disorder of deglycosylation 615273
  • Glycogen storage disease type XIV (Glycogen storage disorders)
  • Congenital disorder of glycosylation, type It, 614921
  • Glycogen Storage Disorders- Muscle
  • Glycogen Storage Disease Type XIV
  • Glycogen storage disease XIV, 612934
Tags
Green Green List (high evidence)
PGM3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Immunodeficiency 23
Tags
Green Green List (high evidence)
PHKA1
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Muscle glycogenosis, 300559
Tags
Green Green List (high evidence)
PHKA2
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Glycogen Storage Disease
  • Glycogen Storage Disorders- Liver
  • Glycogen storage disease, type IXa2, 306000
  • Glycogen storage disease, type IXa1, 306000
  • hepatomegaly and mild hypoglycaemia
  • Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency (Glycogen storage disorders)
Tags
Green Green List (high evidence)
PHKB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • hepatomegaly and variable myopathy
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disorders- Muscle
  • Glycogen Storage Disease
  • Glycogen storage disease type IX Hepatic and muscle phosphorylase kinase deficiency (Glycogen storage disorders)
Tags
Green Green List (high evidence)
PHKG2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • hepatomegaly and variable myopathy
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disease
  • Glycogen storage disease IXc, 613027
  • Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency with cirrhosis (Glycogen storage disorders)
  • Cirrhosis due to liver phosphorylase kinase deficiency
Tags
Green Green List (high evidence)
PHYH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Refsum disease, 266500
  • Refsum disease (Disorders of peroxisomal alpha-, beta and omega-oxidation)
Tags
Green Green List (high evidence)
PIGA
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Multiple congenital anomalies-hypotonia-seizures syndrome 2 300868
  • PIGA-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Tags
Green Green List (high evidence)
PIGL
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • PIGL-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
  • CHIME syndrome 280000
Tags
Green Green List (high evidence)
PIGN
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • PIGN-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
  • Multiple congenital anomalies-hypotonia-seizures syndrome 1
Tags
Green Green List (high evidence)
PIGO
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hyperphosphatasia (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
  • (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
  • Hyperphosphatasia with mental retardation syndrome 2 614749
Tags
Green Green List (high evidence)
PIGT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Multiple congenital anomalies-hypotonia-seizures syndrome 3
Tags
Green Green List (high evidence)
PIGV
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hyperphosphatasia (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
  • Hyperphosphatasia with mental retardation syndrome 1 239300
  • (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Tags
Green Green List (high evidence)
PKP2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 9
  • Arrhythmogenic right ventricular cardiomyopathy
Tags
Green Green List (high evidence)
PLA2G6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Infantile neuroaxonal dystrophy 1
Tags
Green Green List (high evidence)
PLN
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 18,
  • Cardiomyopathy, dilated, 1P
Tags
Green Green List (high evidence)
PMM2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Phosphomannomutase 2 deficiency (Disorders of protein N-glycosylation)
  • Congenital disorder of glycosylation, type Ia 212065
Tags
Green Green List (high evidence)
PMPCA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • slowly progressive cerebellar ataxia
  • non-progressive cerebellar ataxia
Tags
Green Green List (high evidence)
PNPO
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pyridoxamine 5 -oxidase deficiency (Disorders of pyridoxine metabolism)
Tags
Green Green List (high evidence)
PNPT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 70, 614934
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 13, 614932
  • respiratory chain disorder
  • hearing loss
  • Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Tags
Green Green List (high evidence)
POLG
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Progressive external ophthalmoplegia, autosomal dominant, 157640
  • Progressive external ophthalmoplegia, autosomal recessive, 258450
  • Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700
  • Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
  • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662
  • Mitochondrial DNA depletion syndrome 4A (Alpers type)
  • Mitochondrial DNA Depletion Syndrome
  • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459
Tags
Green Green List (high evidence)
POLG2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4,610131
  • Disorders of mitochondrial DNA maintenance and integrity
  • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
Tags
Green Green List (high evidence)
POMGNT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 613157
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280
  • Retinitis pigmentosa 76 617123
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 3 613157
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 613151
  • Protein-O-mannose beta-1,2-N-acetyglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
Green Green List (high evidence)
POMGNT2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Walker-Warburg syndrome
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8
Tags
Green Green List (high evidence)
POMK
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12
Tags
Green Green List (high evidence)
POMT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
  • Protein-O-mannosyltransferase 1 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670
Tags
Green Green List (high evidence)
POMT2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 613150
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158
  • Protein-O-mannosyltransferase 2 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156
Tags
Green Green List (high evidence)
PPA2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
Phenotypes
  • Sudden cardiac failure, infantile, 617222
  • Sudden cardiac failure, alcohol-induced, 617223
Tags
Green Green List (high evidence)
PPOX
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Porphyria variegata 176200
  • Variegate porphyria (Acute neuropathic porphyrias)
Tags
Green Green List (high evidence)
PPP1CB
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
Phenotypes
  • Noonan syndrome-like disorder with loose anagen hair 2, 617506
  • Rasopathy with developmental delay, short stature and sparse slow-growing hair
Tags
Green Green List (high evidence)
PPP1R13L
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • sudden cardiac death
  • cardio-cutaneous syndrome
Tags
Green Green List (high evidence)
PPT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 1
Tags
Green Green List (high evidence)
PRKAG2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
Phenotypes
  • Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
  • Cardiomyopathy, familial hypertrophic 6,
  • syndromic HCM
Tags
Green Green List (high evidence)
PRODH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hyperprolinemia, type I 239500
  • Hyperprolinaemia type I (Disorders of ornithine or proline metabolism)
Tags
Green Green List (high evidence)
PSAP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Atypical Gaucher disease
  • Metachromatic leukodystrophy due to SAP-b deficiency, 249900
  • Combined SAP deficiency
  • Combined SAP deficiency, 611721
  • Prosaposin deficiency (Sphingolipidoses)
  • Atypical Krabbe disease
  • Krabbe disease, atypical, 611722
  • Gaucher disease, atypical, 610539
Tags
Green Green List (high evidence)
PTPN11
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
Phenotypes
  • Noonan syndrome 1
  • LEOPARD syndrome 1
  • Noonan syndrome
  • LEOPARD syndrome
  • syndromic HCM
Tags
Green Green List (high evidence)
PUS1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Mitochondrial myopathy and sideroblastic anemia 1, 600462
Tags
Green Green List (high evidence)
PYCR1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cutis laxa, autosomal recessive, type IIB, 612940
  • Cutis laxa, autosomal recessive, type IIb/IIIb (Disorders of ornithine or proline metabolism)
  • Cutis laxa, autosomal recessive, type IIIB, 614438
Tags
Green Green List (high evidence)
PYGL
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glycogen Storage Disease
  • Glycogen Storage Disorders- Liver
  • Glycogen storage disease VI, 232700
  • hepatomegaly and mild hypoglycaemia
  • Glycogen Storage Disease Type VI
  • Glycogen storage disease type VI, Hers (Glycogen storage disorders)
Tags
Green Green List (high evidence)
PYGM
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glycogen storage disease type V, McArdle (Glycogen storage disorders)
  • McArdle disease 232600
Tags
Green Green List (high evidence)
QDPR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, C
Tags
Green Green List (high evidence)
RAB3GAP2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 614225
  • 212720
Tags
Green Green List (high evidence)
RAF1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
Phenotypes
  • LEOPARD syndrome 2
  • Noonan syndrome 5
  • Noonan syndrome
  • LEOPARD syndrome
  • syndromic HCM
Tags
Green Green List (high evidence)
RANBP2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Acute necrotizing encephalopathy (Other metabolic disorders)
Tags
Green Green List (high evidence)
RARS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia, type 6, 611523
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Tags
Green Green List (high evidence)
RBCK1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Polyglucosan body myopathy 1 with or without immunodeficiency 615895
Tags
Green Green List (high evidence)
RBM20
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1DD
Tags
Green Green List (high evidence)
RFT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type In 612015
  • Flippase of Man5GlcNAc2-PP-Dol deficiency (Disorders of protein N-glycosylation)
Tags
Green Green List (high evidence)
RIT1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
Phenotypes
  • Noonan syndrome 8
  • Noonan syndrome type 8
Tags
Green Green List (high evidence)
RMND1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 11, 614922
  • Encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect
Tags
Green Green List (high evidence)
RNASEH1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
Tags
Green Green List (high evidence)
ROBO3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313
Tags
Green Green List (high evidence)
RPIA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ribose-5-phosphate isomerase deficiency (Disorders of pentose metabolism)
  • ?Ribose 5-phosphate isomerase deficiency 608611
Tags
Green Green List (high evidence)
RPL10
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Mental retardation, X-linked, syndromic, 35
Tags
Green Green List (high evidence)
RRM2B
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077
  • Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075
  • Mitochondrial DNA Depletion Syndrome (recessive)
  • Mitochondrial Ribonucelotide Reductase subunit 2 deficiency (Disorders of purine metabolism)
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions (autosomal dominant)
  • Disorders of mitochondrial DNA maintenance and integrity
  • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075
Tags
Green Green List (high evidence)
RYR1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Minicore myopathy with external ophthalmoplegia
  • Central core disease
  • Neuromuscular disease, congenital, with uniform type 1 fiber
  • congenital muscular dystrophies
  • Rhabdomyolysis and metabolic muscle disorders
Tags
Green Green List (high evidence)
RYR2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy
  • Arrhythmogenic right ventricular dysplasia 2, 600996
Tags
Green Green List (high evidence)
SACS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spastic ataxia, Charlevoix-Saguenay type
  • Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
Tags
Green Green List (high evidence)
SAMHD1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • (Disorders of nucleotide metabolism, Aicardi-Goutieres Syndrome) AGS5
  • Aicardi-Goutieres syndrome-5 (AGS5)
  • Aicardi-Goutieres syndrome 5, 612952
Tags
Green Green List (high evidence)
SAR1B
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Anderson disease (Inherited hypolipidaemias)
  • CHYLOMICRON RETENTION DISEASE 246700
Tags
Green Green List (high evidence)
SARS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845
Tags
Green Green List (high evidence)
SCN5A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Arrhythmogenic right ventricular cardiomyopathy
  • Cardiomyopathy, dilated, 1E
  • Dilated cardiomyopathy
  • Brugada syndrome
  • Long QT syndrome
Tags
Green Green List (high evidence)
SCO1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex IV Deficiency
  • Isolated complex IV deficiency
  • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Hepatic failure, early onset, and neurologic disorder
Tags
Green Green List (high evidence)
SCO2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Mitochondrial Diseases
  • syndromic HCM
  • Isolated complex IV deficiency
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377
  • Myopia 6, 608908
  • Mitochondrial Respiratory Chain Complex IV Deficiency
  • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
Tags
Green Green List (high evidence)
SCP2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Sterol carrier protein deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation)
Tags
Green Green List (high evidence)
SDHA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Paragangliomas 5, 614165
  • Leigh syndrome, 256000
  • Cardiomyopathy, dilated, 1GG, 613642
  • Isolated complex II deficiency
  • Mitochondrial respiratory chain complex II deficiency, 252011
  • Cardiomyopathy, dilated, 1GG
  • Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Mitochondrial Respiratory Chain Complex II Deficiency
Tags
Green Green List (high evidence)
SDHAF1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial Diseases
  • Mitochondrial complex II deficiency, 252011
  • Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Mitochondrial Respiratory Chain Complex II Deficiency
  • Isolated complex II deficiency
Tags
Green Green List (high evidence)
SDHB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial Diseases
  • Gastrointestinal stromal tumor, 606764
  • Pheochromocytoma, 171300
  • Paragangliomas 4, 115310
  • Isolated complex II deficiency
  • Cowden syndrome 2, 612359
  • Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Paraganglioma and gastric stromal sarcoma, 606864
Tags
Green Green List (high evidence)
SDHD
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Mitochondrial Diseases
  • Isolated complex II deficiency
Tags
Green Green List (high evidence)
SEC23B
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Dyserythropoietic anemia, congenital, type II 224100
  • COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies)
Tags
Green Green List (high evidence)
SELENON
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, rigid spine, 1, 602771
Tags
Green Green List (high evidence)
SERAC1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Methylglutaconic aciduria with deafness, encephalopathy and Leigh-like syndrome (MEGDEL) (Organic acidurias)
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739
Tags
Green Green List (high evidence)
SGCD
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1L
Tags
Green Green List (high evidence)
SGSH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
Phenotypes
  • Mucopolysaccharidosis Type IIIA
  • Mucopolysaccharidosis, Type III
  • MUCOPOLYSACCHARIDOSIS TYPE 3A
  • Mucopolysaccharidosis Type III
  • MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses)
Tags
Green Green List (high evidence)
SHOC2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
Phenotypes
  • syndromic HCM
  • Noonan-like syndrome with loose anagen hair
Tags
Green Green List (high evidence)
SI
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY 222900
  • Disaccharide intolerance 1 (Other carbohydrate disorders)
Tags
Green Green List (high evidence)
SLC16A1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hyperinsulinemic hypoglycemia, familial, 7
  • mainly ketosis with borderline reduction in glucose
Tags
Green Green List (high evidence)
SLC17A5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Salla disease, 604369
  • Sialic acid storage disorder, infantile, 269920
Tags
Green Green List (high evidence)
SLC19A2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Thiamine-responsive megaloblastic anemia syndrome, 249270
  • Thiamine-responsive megaloblastic anemia syndrome (Disorders of thiamine metabolism)
Tags
Green Green List (high evidence)
SLC19A3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Biotin-responsive basal ganglia disease (Disorders of thiamine metabolism)
  • Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2),607483
Tags
Green Green List (high evidence)
SLC22A5
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • MetBioNet
  • South West GLH
Phenotypes
  • Carnitine transporter deficiency (primary carnitine deficiency)
  • HCM, mixed
  • Propionicacidemia
  • Carnitine transporter deficiency (Disorders of carnitine transport and the carnitine cycle)
  • DCM
  • Arrhythmia, muscle weakness or hypotonia, liver disease, hypoketotic hypoglycaemia
Tags
Green Green List (high evidence)
SLC25A1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Combined D-2- and L-2-hydroxyglutaric aciduria, 615182
  • Disorders of mitochondrial protein transport
  • Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism)
Tags
Green Green List (high evidence)
SLC25A13
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Citrullinemia, adult-onset type II 603471
  • Citrullinemia, adult-onset type II, 603471
  • Citrullinemia, type II, neonatal-onset, 605814
  • Citrullinemia Type 2 (Urea cycle disorders and inherited hyperammonaemias)
Tags
Green Green List (high evidence)
SLC25A15
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970
  • HHH syndrome (Urea cycle disorders and inherited hyperammonaemias)
Tags
Green Green List (high evidence)
SLC25A19
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Microcephaly, Amish type, 607196
  • Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710
  • Microcephaly, Amish type (Disorders of thiamine metabolism)
Tags
Green Green List (high evidence)
SLC25A20
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • South West GLH
Phenotypes
  • Carnitine-acylcarnitine translocase deficiency 212138
  • Carnitine acylcarnitines translocase deficiency CAT
  • Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle)
  • HCM, DCM
  • Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia
Tags
Green Green List (high evidence)
SLC25A22
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, early infantile, 3, 609304
  • Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Tags
Green Green List (high evidence)
SLC25A26
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 28
  • intra-mitochondrial methylation deficiency.
  • Intra-mitochondrial Methylation Deficiency leading to Clinical findings ranging from neonatal mortality resulting from respiratory insufficiency and hydrops to childhood acute episodes of cardiopulmonary failure and slowly progressive muscle weakness
Tags
Green Green List (high evidence)
SLC25A3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial phosphate carrier deficiency, 610773
  • Mitochondrial phosphate carrier deficiency 610773
  • Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism)
Tags
Green Green List (high evidence)
SLC25A38
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • severe, non-syndromic, microcytic/hypochromic sideroblastic anemia
  • Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • nonsyndromic autosomal recessive congenital sideroblastic anemia
  • congenital sideroblastic anemias
Tags
Green Green List (high evidence)
SLC25A4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
  • Hypertrophic cardiomyopathy
  • Disorders of mitochondrial DNA maintenance and integrity
  • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283
  • Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418
  • Disorders of mitochondrial protein transport
Tags
Green Green List (high evidence)
SLC25A46
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • optic atrophy spectrum disorder
Tags
Green Green List (high evidence)
SLC2A2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glycogen storage disease type XI (Glycogen storage disorders)
  • Glycogen Storage Disorders- Liver
  • Glucose transporter 2 deficiency (Disorders of glucose transport)
  • Fanconi-Bickel Syndrome
  • renal falcon syndrome, aminoaciduria phosphaturia, small stature, malabsorption, hepatomegaly and nephromegaly.
Tags
Green Green List (high evidence)
SLC30A10
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypermanganesemia with dystonia, polycythemia, and cirrhosis (Disorder of magnesium metabolism)
  • Early onset dystonia
  • Hypermanganesemia with dystonia 1
  • Parkinson Disease and Complex Parkinsonism
Tags
Green Green List (high evidence)
SLC35C1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
  • Congenital disorder of glycosylation, type IIc 266265
Tags
Green Green List (high evidence)
SLC35D1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 9.2.3. O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation)
Tags
Green Green List (high evidence)
SLC37A4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glycogen storage disease Ic, 232240
  • Glycogen storage disease Ib, 232220
  • Glycogen Storage Disease Type I
  • Glycogen Storage Disease
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disease Ib and Ic
  • Glycogen storage disease type 1b, von Gierke (Glycogen storage disorders)
  • heptomgaly, feed intolerance , inflammatory bowel disease, neutropenia
Tags
Green Green List (high evidence)
SLC39A14
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypermanganesemia with dystonia 2
Tags
Green Green List (high evidence)
SLC39A4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Acrodermatitis enteropathica (Disorder of zinc metabolism)
  • Acrodermatitis enteropathica 201100 (Disorder of zinc metabolism)
Tags
Green Green List (high evidence)
SLC39A8
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type IIn 616721
  • Hypomagnesaemia with cerebellar atrophy, hypotonia, strabismus, developmental delay, short stature, mild skeletal dysplasia, and connective tissue abnormalities (Disorder of magnesium metabolism)
Tags
Green Green List (high evidence)
SLC40A1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Hemochromatosis, type 4 606069
  • Hemochromatosis, type 4 606069 (Disorder of iron metabolism)
  • Hereditary haemochromatosis Type 4 (Disorder of iron metabolism)
Tags
Green Green List (high evidence)
SLC46A1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Folate malabsorption, hereditary
  • Hereditary folate malabsorption (Disorders of folate metabolism and transport)
Tags
Green Green List (high evidence)
SLC52A2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Brown-Vialetto-Van Laere syndrome 2 614707
Tags
Green Green List (high evidence)
SLC52A3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Brown-Vialetto-Van Laere syndrome 1 211530
  • Fazio-Londe disease 211500
Tags
Green Green List (high evidence)
SLC5A1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glucose/galactose malabsorption (Disorders of glucose transport)
  • Glucose/galactose malabsorption 606824 (Disorders of glucose transport)
Tags
Green Green List (high evidence)
SLC6A19
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Iminoglycinuria, digenic
  • Hartnup disorder AD
Tags
Green Green List (high evidence)
SLC6A20
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hyperglycinuria
Tags
Green Green List (high evidence)
SLC7A7
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Lysinuric protein intolerance (Disorders of amino acid transport)
  • Lysinuric protein intolerance 222700
Tags
Green Green List (high evidence)
SMPD1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Niemann-Pick disease, type A, 257200
  • Niemann-Pick disease, type B, 607616
Tags
Green Green List (high evidence)
SOS1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
Phenotypes
  • syndromic HCM
  • Noonan syndrome
  • Noonan syndrome 4
Tags
Green Green List (high evidence)
SOS2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
Phenotypes
  • Noonan syndrome 9
Tags
Green Green List (high evidence)
SPG7
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Spastic paraplegia 7, autosomal recessive, 607259
  • Disorders of mitochondrial DNA maintenance and integrity
Tags
Green Green List (high evidence)
SPRED1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Legius Syndrome
  • Neurofibromatosis-like syndrome
Tags
Green Green List (high evidence)
SRD5A3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • SRD5A3-CDG (Disorders of protein N-glycosylation)
  • Congenital disorder of glycosylation, type Iq 612379
Tags
Green Green List (high evidence)
SSR4
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Iy 300934
Tags
Green Green List (high evidence)
ST3GAL5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
  • Salt and pepper developmental regression syndrome 609056
  • GM3 synthase deficiency (Disorders of complex lipid synthesis)
Tags
Green Green List (high evidence)
SUCLA2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonicaciduria), 612073
  • Mitochondrial DNA Depletion Syndrome
  • Disorders of mitochondrial DNA maintenance and integrity
  • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Tags
Green Green List (high evidence)
SUCLG1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Mitochondrial DNA Depletion Syndrome
  • Disorders of mitochondrial DNA maintenance and integrity
  • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria),245400
Tags
Green Green List (high evidence)
SUMF1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Multiple sulfatase deficiency
Tags
Green Green List (high evidence)
SUOX
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Sulfite oxidase deficiency
Tags
Green Green List (high evidence)
SURF1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial Diseases
  • Complex IV deficiency
  • Leigh Syndrome
  • Isolated complex IV deficiency
  • Leigh syndrome, due to COX deficiency, 256000
  • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
Tags
Green Green List (high evidence)
TACO1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial Diseases
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • ?Mitochondrial complex IV deficiency, 220110
  • Isolated complex IV deficiency
  • Mitochondrial Respiratory Chain Complex IV Deficiency
  • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
Tags
Green Green List (high evidence)
TALDO1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Transaldolase deficiency
Tags
Green Green List (high evidence)
TANGO2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878
Tags
Green Green List (high evidence)
TAZ
2 reviews
2 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • MetBioNet
  • South West GLH
Phenotypes
  • Neutropenia, muscle weakness, growth retardation
  • HCM, mixed
  • Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias)
  • Disorders of mitochondrial lipid metabolism
  • Barth syndrome
  • Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Left Ventricular Noncompaction Cardiomyopathy
  • Non-compaction cardiomyopathy
  • Dilated Cardiomyopathy, X-Linked
  • Barth syndrome, 302060
Tags
Green Green List (high evidence)
TCAP
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Congenital muscular dystrophies
  • Cardiomyopathy, dilated, 1N
Tags
Green Green List (high evidence)
TFR2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hemochromatosis, type 3 604250
  • Hereditary haemochromatosis Type 3 (Disorder of iron metabolism)
Tags
Green Green List (high evidence)
TIMM8A
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Mohr-Tranebjaerg syndrome, 304700
  • Jensen syndrome, 311150
  • Disorders of the mitochondrial import system
  • Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Deafness, X-linked 1, progressive
Tags
Green Green List (high evidence)
TK2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560
  • Mitochondrial DNA Depletion Syndrome
  • Disorders of mitochondrial DNA maintenance and integrity
  • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Thymidine kinase 2 deficiency (Disorders of pyrimidine metabolism)
Tags
Green Green List (high evidence)
TMEM165
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type IIk 614727
  • CDG2K (other congenital disorders of glycosylation)
Tags
Green Green List (high evidence)
TMEM43
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Emery-Dreifuss muscular dystrophy 7, AD 614302
  • Arrhythmogenic right ventricular dysplasia 5
Tags
Green Green List (high evidence)
TMEM5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10
Tags
  • new-gene-name
Green Green List (high evidence)
TMEM70
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial Diseases
  • syndromic HCM
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
  • Isolated complex V deficiency
  • Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type
Tags
Green Green List (high evidence)
TNNC1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1Z
  • Cardiomyopathy, familial hypertrophic, 13,
Tags
Green Green List (high evidence)
TNNI3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 2A,
  • Hypertrophic cardiomyopathy
  • Cardiomyopathy, familial hypertrophic, 7
  • Cardiomyopathy, dilated, 1FF
Tags
Green Green List (high evidence)
TNNT2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
Phenotypes
  • Left ventricular noncompaction 6,
  • Hypertrophic cardiomyopathy
  • Cardiomyopathy, familial hypertrophic, 2
  • Cardiomyopathy, dilated, 1D
Tags
Green Green List (high evidence)
TPK1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458
Tags
Green Green List (high evidence)
TPM1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1Y
  • Cardiomyopathy, familial hypertrophic, 3
  • Left ventricular noncompaction 9,
Tags
Green Green List (high evidence)
TPP1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Intellectual disability
  • CLN2, Jansky-Bielschowsky disease (Ceroid lipfuscinoses, neuronal)
  • Ceroid lipofuscinosis, neuronal, 2
  • Hereditary ataxia
Tags
Green Green List (high evidence)
TRIM37
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mulibrey nanism (Other peroxisomal disorders)
  • Mulibrey nanism
Tags
Green Green List (high evidence)
TRMU
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • {Deafness, mitochondrial, modifier of}, 580000
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Liver failure, transient infantile, 613070
Tags
Green Green List (high evidence)
TRNT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • congenital sideroblastic anemia with B cell immunodeficiency, fevers, and developmental delay (SIFD)
  • retinitis pigmentosa with erythrocytic microcytosis
Tags
Green Green List (high evidence)
TRPM6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypomagnesemia 1, intestinal 602014
  • Hypomagnesaemia type 1, intestinal (Disorder of magnesium metabolism)
Tags
Green Green List (high evidence)
TSFM
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Combined oxidative phosphorylation deficiency 3, 610505
  • Combined oxidative phosphorylation deficiency 3 610505
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Tags
Green Green List (high evidence)
TTC19
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial Diseases
  • Isolated complex III deficiency
  • Mitochondrial Respiratory Chain Complex III Deficiency
  • Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Mitochondrial complex III deficiency, nuclear type 2, 615157
Tags
Green Green List (high evidence)
TTN
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1G
  • Cardiomyopathy, familial hypertrophic, 9,
Tags
Green Green List (high evidence)
TUSC3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • TUSC3-CDG (Disorders of protein N-glycosylation)
  • Mental retardation, autosomal recessive 7
Tags
Green Green List (high evidence)
TWNK
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial Membrane Protein-Associated Neurodegeneration (biallelic)
  • Disorders of mitochondrial DNA maintenance and integrity
  • Mitochondrial DNA Depletion Syndrome (biallelic)
  • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Progressive external ophthalmoplegia, autosomal dominant, 3, 609286
  • Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245
  • Mitochondrial DNA Depletion Syndrome
  • Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions (monoallelic)
Tags
Green Green List (high evidence)
TYMP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Thymidine phosphorylase deficiency (Disorders of pyrimidine metabolism)
  • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of mitochondrial DNA maintenance and integrity
  • Mitochondrial Neurogastrointestinal Encephalopathy Disease
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041
Tags
Green Green List (high evidence)
UGT1A1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Crigler-Najjar syndrome, type I 218800
  • Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport)
  • Crigler-Najjar syndrome, type II 606785
Tags
Green Green List (high evidence)
UMPS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Intellectual disability
  • Orotic aciduria
  • Orotic aciduria (Disorders of pyrimidine metabolism)
Tags
Green Green List (high evidence)
UROD
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Porphyria cutanea tarda (Porphyrias with erosive photodermatosis)
Tags
Green Green List (high evidence)
UROS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis)
  • Porphyria, congenital erythropoietic 263700
Tags
Green Green List (high evidence)
VARS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 20, 615917
Tags
Green Green List (high evidence)
VCL
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1W
  • Cardiomyopathy, familial hypertrophic, 15,
Tags
Green Green List (high evidence)
WDR45
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Neurodegeneration with brain iron accumulation 5
Tags
Green Green List (high evidence)
XDH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Xanthinuria type II (Disorders of purine metabolism)
  • Xanthinuria type I (Disorders of purine metabolism)
Tags
Green Green List (high evidence)
XYLT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Desbuquois dysplasia 2
Tags
Green Green List (high evidence)
XYLT2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spondyloocular syndrome
Tags
Green Green List (high evidence)
YARS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561
Tags
Green Green List (high evidence)
ACADVL
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • South West GLH
Phenotypes
  • syndromic HCM
  • DCM, mixed
  • HCM
  • Liver disease, hepatomegaly, hypoketotic hypoglycaemia
  • Very long chain acyl-CoA dehydrogenase deficiency (VLCADD) (severe form)
  • VLCAD deficiency
  • Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation)
Tags
Green Green List (high evidence)
AGL
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
Phenotypes
  • syndromic HCM
  • Glycogen Storage Disease Type III
  • HCM
  • Glycogen storage disease type III, Cori (Glycogen storage disorders)
  • myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance
  • Glycogen Storage Disorders- Muscle
  • Ketotic hypoglycaemia, hyperlipidaemia, raised transaminases
  • Hypertrophic-hypocontractile cardiomyopathy
  • Glycogen storage disease IIIb, 232400
  • Glycogen storage disease type IIIa (debrancher enzyme deficiency)
  • Glycogen Storage Disease
  • Glycogen storage disease IIIa, 232400
  • Glycogen Storage Disorders- Liver
Tags
Green Green List (high evidence)
C1QBP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Combined oxidative phosphorylation deficiency 33 617713
Tags
Green Green List (high evidence)
DMPK_CTG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Myotonic dystrophy 1 160900
Tags
  • STR
Green Green List (high evidence)
FDXR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Auditory neuropathy and optic atrophy 617717
Tags
Green Green List (high evidence)
FXN_GAA
STR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Friedreich ataxia 229300
Tags
  • STR
Green Green List (high evidence)
MRPL44
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
Phenotypes
  • ?Combined oxidative phosphorylation deficiency 16, 615395
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Tags
Green Green List (high evidence)
MRPS34
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Combined oxidative phosphorylation deficiency 32 617664
Tags
Green Green List (high evidence)
PNPLA2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • South West GLH
Phenotypes
  • Lipid myopathy, muscle weakness Jordans anomaly - neutral lipidcontaining vacuoles in leukocytes
  • DCM
  • Neutral lipid storage disease with myopathy NLSDM
Tags
Green Green List (high evidence)
SYNE1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • complex phenotypic spectrum ranging from Emery-Dreifuss muscular dystrophy to ataxia (SCA8)
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998
Tags
Amber Amber List (moderate evidence)
ABCG5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Sitosterolaemia (Inherited hypercholesterolaemias)
  • Familial hypercholesterolaemia
Tags
Amber Amber List (moderate evidence)
ABCG8
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Sitosterolaemia (Inherited hypercholesterolaemias)
  • Familial hypercholesterolaemia
Tags
Amber Amber List (moderate evidence)
ABHD12
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Congenital hearing impairment (profound/severe)
  • PHARC syndrome (Disorders of complex lipid synthesis)
  • Posterior segment abnormalities
  • Hereditary ataxia
Tags
Amber Amber List (moderate evidence)
ACTA1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London South GLH
  • South West GLH
Phenotypes
  • Nemaline myopathy 3, autosomal dominant or recessive 161800
  • CMD with rigid spine
  • Hypertrophic cardiomyopathy
  • Myopathy, congenital, with fiber-type disproportion 1 255310
  • Dilated cardiomyopathy
Tags
Amber Amber List (moderate evidence)
ACY1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • Aminoacylase 1 deficiency (Organic acidurias)
Tags
Amber Amber List (moderate evidence)
ADA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Combined B and T cell defect
  • Adenosine deaminase deficiency (Disorders of purine metabolism)
  • SCID
  • Infantile enterocolitis & monogenic inflammatory bowel disease
Tags
Amber Amber List (moderate evidence)
ADSL
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • Epileptic encephalopathy
  • Adenylosuccinate lyase deficiency (Disorders of purine metabolism)
Tags
Amber Amber List (moderate evidence)
ALAS2
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
Phenotypes
  • Erythropoietic protoporphyria, mild variant
  • X-linked sideroblastic anaemia (XLSA) (Porphyrias with acute painful photosensitivity)
  • X-linked dominant protoporphyria (Porphyrias with acute painful photosensitivity)
Tags
Amber Amber List (moderate evidence)
ALDH3A2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • Sj gren - Larsson syndrome (Other disorders of lipid and lipoprotein metabolism)
  • Inherited white matter disorders
Tags
Amber Amber List (moderate evidence)
ALG13
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • Epileptic encephalopathy
  • ALG13-CDG (Disorders of protein N-glycosylation)
  • Epileptic encephalopathy, early infantile, 36 300884
Tags
Amber Amber List (moderate evidence)
ALPL
0 reviews
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Unexplained skeletal dysplasia
  • Osteogenesis Imperfecta
  • Craniosynostosis syndromes phenotypes
  • Hypophosphatasia (Disorders of pyridoxine metabolism)
Tags
Amber Amber List (moderate evidence)
ANKRD1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London South GLH
  • South West GLH
Phenotypes
  • Dilated Cardiomyopathy, Dominant
Tags
Amber Amber List (moderate evidence)
APOB
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Familial hypobetalipoproteinaemia (Inherited hypolipidaemias)
  • Familial hypercholesterolaemia
Tags
Amber Amber List (moderate evidence)
ASAH1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Farber disease (Sphingolipidoses)
  • Intellectual disability
  • Fetal hydrops
Tags
Amber Amber List (moderate evidence)
CISD2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Diabetes with additional phenotypes suggestive of a monogenic aetiology
  • Wolfram syndrome 2 (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Intellectual disability
Tags
Amber Amber List (moderate evidence)
CLDN16
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)
  • Hypomagnesaemia type 3, renal (Disorder of magnesium metabolism)
Tags
Amber Amber List (moderate evidence)
CLDN19
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Hypomagnesaemia type 5, renal with ocular involvement (Disorder of magnesium metabolism)
  • Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)
Tags
Amber Amber List (moderate evidence)
COA3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Ostergaard et al., 2015, J. Med. Genet., 52, 203-207.
Tags
Amber Amber List (moderate evidence)
COA6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • ?{Fatal infantile cardiomyopathy, association with}, 604377
Tags
Amber Amber List (moderate evidence)
COL4A1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • walker warburg syndrome, muscle eye brain disease
Tags
Amber Amber List (moderate evidence)
CRYAB
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1II,
  • Myopathy, myofibrillar, fatal infantile hypertrophy, alpha B crystallin related, 613869
Tags
Amber Amber List (moderate evidence)
CSTB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • Myoclonic epilepsy of Unverricht and Lundborg (Other metabolic disorders)
Tags
Amber Amber List (moderate evidence)
CTSC
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Papillon-Lef vre syndrome (Other lysosomal disorders, Cathepsin-related disorders)
  • Unexplained skeletal dysplasia
Tags
Amber Amber List (moderate evidence)
CYCS
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Thrombocytopenia 4, 612004
Tags
Amber Amber List (moderate evidence)
CYP7B1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Bile acid synthesis defect, congenital, 3
Tags
Amber Amber List (moderate evidence)
DCC
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Gaze palsy, familial horizontal, with progressive scoliosis, 2
Tags
Amber Amber List (moderate evidence)
DCXR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • [Pentosuria] 260800
  • Essential pentosuria (Disorders of pentose metabolism)
Tags
Amber Amber List (moderate evidence)
DHCR24
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Desmosterolosis (Disorders of sterol biosynthesis)
  • Unexplained skeletal dysplasia
  • Intellectual disability
Tags
Amber Amber List (moderate evidence)
DHCR7
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London South GLH
Phenotypes
  • Intellectual disability
  • IUGR and IGF abnormalities
  • Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis)
  • Disorders of sex development
  • Cataracts
Tags
Amber Amber List (moderate evidence)
DHDDS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Retinitis pigmentosa 59 613861
  • Posterior segment abnormalities
  • Retinitis pigmentosa (other congenital disorders of glycosylation)
Tags
Amber Amber List (moderate evidence)
DHODH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Bilateral microtia
  • Unexplained skeletal dysplasia
  • Dihydroorotate dehydrogenase deficiency (Disorders of pyrimidine metabolism)
  • Deafness and congenital structural abnormalities
Tags
Amber Amber List (moderate evidence)
DPM3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Congenital disorder of glycosylation, type Io 612937
  • Congenital disorder of glycosylation, type Io 612937
  • DMP3-CDG (other congenital disorders of glycosylation)
  • congenital muscular dystrophies
  • Congenital disorder of glycosylation, type Io
Tags
Amber Amber List (moderate evidence)
DYSF
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Myopathy, distal, with anterior tibial onset, 606768
  • Muscular dystrophy, limb-girdle, type 2B, 253601
  • Miyoshi muscular dystrophy 1, 254130
Tags
Amber Amber List (moderate evidence)
FECH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Erythropoietic protoporphyria, mild variant
  • Erythropoietic protoporphyria (Porphyrias with acute painful photosensitivity)
Tags
Amber Amber List (moderate evidence)
FGFR2
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Bilateral microtia
  • Deafness and congenital structural abnormalities
  • Craniosynostosis syndromes phenotypes
  • Arthrogryposis
  • Choanal atresia
  • Antley-Bixler syndrome type without disordered steroidogenesis
  • Unexplained skeletal dysplasia
Tags
Amber Amber List (moderate evidence)
FLNC
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
FTCD
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Glutamate formiminotransferase deficiency
Tags
Amber Amber List (moderate evidence)
FXN
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Hereditary ataxia
  • syndromic HCM
  • Friedreich ataxia, 229300
  • Friedreich ataxia with retained reflexes, 229300
  • Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Tags
Amber Amber List (moderate evidence)
GAMT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • Guanidinoacetate methyltransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism)
Tags
Amber Amber List (moderate evidence)
GATAD1
0 reviews
Unknown
Sources
  • Expert Review Amber
Phenotypes
  • Cardiomyopathy, dilated, 2B
Tags
Amber Amber List (moderate evidence)
GK
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
Phenotypes
  • Glycerol kinase deficiency (Disorders of glycerol metabolism)
  • Intellectual disability
  • Intellectual_disability
Tags
Amber Amber List (moderate evidence)
GLUL
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • Glutamine deficiency, congenital (Other disorder of amino acid metabolism)
Tags
Amber Amber List (moderate evidence)
GNMT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Glycine N-methyltransferase deficiency
Tags
Amber Amber List (moderate evidence)
HADH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • Hyperinsulinism
  • 3-alpha-hydroxyacyl- CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation)
Tags
Amber Amber List (moderate evidence)
HPD
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • 4-hydroxyphenylpyruvate dioxygenase deficiency (Disorders of phenylalanine or tyrosine metabolism)
Tags
Amber Amber List (moderate evidence)
HPS1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Infantile enterocolitis & monogenic inflammatory bowel disease
  • Hermansky-Pudlak Syndrome (Other lysosomal disorders)
  • Inherited bleeding disorders
Tags
Amber Amber List (moderate evidence)
HSD17B10
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • 2-Methyl-3-hydroxybutyric aciduria, HSD10 disease (Organic acidurias)
  • Intellectual_disability
Tags
Amber Amber List (moderate evidence)
ISCU
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Disorders of iron homeostasis
  • Myopathy with lactic acidosis, hereditary, 255125
  • Rhabdomyolysis and metabolic muscle disorders
  • Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Tags
Amber Amber List (moderate evidence)
JPH2
0 reviews
Unknown
Sources
  • Expert Review Amber
Phenotypes
  • Cardiomyopathy, familial hypertrophic 17,
Tags
Amber Amber List (moderate evidence)
LBR
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Greenberg skeletal dysplasia (Disorders of sterol biosynthesis)
  • Unexplained skeletal dysplasia
  • Fetal hydrops
Tags
Amber Amber List (moderate evidence)
LDLR
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Familial hypercholesterolaemia
  • Disorder of low density lipoprotein receptor (Inherited hypercholesterolaemias)
Tags
Amber Amber List (moderate evidence)
LDLRAP1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Familial hypercholesterolaemia
  • Autosomal recessive hypercholesterolemia (Inherited hypercholesterolaemias)
Tags
Amber Amber List (moderate evidence)
LIPC
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • {Diabetes mellitus, noninsulin-dependent} 125853
  • Hepatic lipase deficiency (Inherited mixed hyperlipidaemias)
  • Hepatic lipase deficiency, 614025
  • [High density lipoprotein cholesterol level QTL 12] 612797
Tags
Amber Amber List (moderate evidence)
MAGT1
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
Phenotypes
  • Combined B and T cell defect
  • Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853
  • IAP-CDG (Disorders of protein N-glycosylation)
Tags
Amber Amber List (moderate evidence)
MANBA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Mannosidosis, beta
Tags
Amber Amber List (moderate evidence)
MAOA
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
Phenotypes
  • Brunner syndrome
Tags
Amber Amber List (moderate evidence)
MOCS1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • Mo cofactor deficiency, complementation group A (Disorders of molybdenum cofactor metabolism)
Tags
Amber Amber List (moderate evidence)
MOCS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • Mo cofactor deficiency, complementation group B (Disorders of molybdenum cofactor metabolism)
Tags
Amber Amber List (moderate evidence)
MRPL3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • syndromic HCM
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Combined oxidative phosphorylation deficiency 9, 614582
Tags
Amber Amber List (moderate evidence)
MT-RNR2
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
MT-TT
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
MTFMT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Combined oxidative phosphorylation deficiency 15, 614947
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Inherited white matter disorders
Tags
Amber Amber List (moderate evidence)
MTPAP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • ?Spastic ataxia 4, autosomal recessive, 613672
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)
  • Ataxia, spastic, 4, 613672
Tags
Amber Amber List (moderate evidence)
MVK
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Infantile enterocolitis & monogenic inflammatory bowel disease
  • Mevalonate kinase deficiency (Disorders of sterol biosynthesis)
Tags
Amber Amber List (moderate evidence)
MYLK2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Cardiomyopathy, hypertrophic, midventricular, digenic,
Tags
Amber Amber List (moderate evidence)
MYPN
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1KK
  • Cardiomypathy, familial hypertrophic, 22,
Tags
Amber Amber List (moderate evidence)
NDUFA4
0 reviews
Unknown
Sources
  • Expert Review Amber
Phenotypes
  • Isolated complex IV deficiency
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
NDUFB9
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • ?Mitochondrial complex I deficiency, 252010
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • ?Mitochondrial complex I deficiency
  • Isolated complex I deficiency
Tags
Amber Amber List (moderate evidence)
OCRL
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
Phenotypes
  • Lowe syndrome (Disorders of amino acid transport)
  • Cataracts
  • Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)
  • Intellectual_disability
  • Intellectual disability
Tags
Amber Amber List (moderate evidence)
OPLAH
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Oxoprolinuria (Disorders of the gamma-glutamyl cycle)
  • 5-oxoprolinase deficiency, 260005
Tags
Amber Amber List (moderate evidence)
PANK2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Neurodegeneration with brain iron accumulation 1, 234200HARP syndrome, 607236
  • Early onset dystonia
  • Posterior segment abnormalities
  • Parkinson Disease and Complex Parkinsonism
  • Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism)
  • Pantothenate kinases deficiency (Other disorders of vitamins and cofactors)
Tags
Amber Amber List (moderate evidence)
PARS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • No OMIM phenotype
  • Alpers syndrome.
Tags
Amber Amber List (moderate evidence)
PCK1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Phosphoenolpyruvate carboxykinase deficiency (Disorders of gluconeogenesis)
  • ?Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency
  • (PCK1 DEFICIENCY, Cytosolic phosphoenolpyruvate carboxykinase (PEPCK))
Tags
Amber Amber List (moderate evidence)
PCSK9
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Familial hypercholesterolaemia
  • Autosomal dominant hypercholesterolemia-3 (Inherited hypercholesterolaemias)
Tags
Amber Amber List (moderate evidence)
PDPR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism)
Tags
Amber Amber List (moderate evidence)
PEPD
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • Prolidase deficiency (Other disorders of peptide metabolism)
Tags
Amber Amber List (moderate evidence)
PGAM2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Glycogen storage disease type X (Glycogen storage disorders)
  • Rhabdomyolysis and metabolic muscle disorders
Tags
Amber Amber List (moderate evidence)
PHGDH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Phosphoglycerate dehydrogenase deficiency (Disorders of serine, glycine or glycerate metabolism)
  • Unexplained skeletal dysplasia
  • Intellectual disability
Tags
Amber Amber List (moderate evidence)
PIGM
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
  • Phosphatidylinositolglycan, class M deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
  • Glycosylphosphatidylinositol deficiency, 610293
  • Glycosylphosphatidylinositol deficiency 610293
  • Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Tags
Amber Amber List (moderate evidence)
PINK1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Early onset dystonia
  • Parkinson disease 6, early onset (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Parkinson Disease and Complex Parkinsonism
Tags
Amber Amber List (moderate evidence)
PNP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • SCID
  • Purine nucleoside phosphorylase deficiency (Disorders of purine metabolism)
Tags
Amber Amber List (moderate evidence)
POR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Antley-Bixler syndrome with disordered steroidogenesis
  • Unexplained skeletal dysplasia
  • Disorders of sex development
  • Craniosynostosis syndromes phenotypes
Tags
Amber Amber List (moderate evidence)
PRPS1
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • Charcot-Marie-Tooth disease
  • Phosphoribosyl pyrophosphate synthetase 1 defects (Disorders of purine metabolism)
  • Congenital hearing impairment (profound/severe)
  • Intellectual_disability
Tags
Amber Amber List (moderate evidence)
PSAT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Phosphoserine aminotransferase deficiency (Disorders of serine, glycine or glycerate metabolism)
  • Unexplained skeletal dysplasia
Tags
Amber Amber List (moderate evidence)
PSEN1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Cardiomyopathy, dilated, 1U
Tags
Amber Amber List (moderate evidence)
PSEN2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Cardiomyopathy, dilated, 1V
Tags
Amber Amber List (moderate evidence)
PSPH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • Phosphoserine phosphatase deficiency (Disorders of serine, glycine or glycerate metabolism)
  • Unexplained skeletal dysplasia
Tags
Amber Amber List (moderate evidence)
PTS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • 6-Pyruvoyl-tetrahydropterin synthase deficiency (Disorders of pterin metabolism)
Tags
Amber Amber List (moderate evidence)
QARS
0 reviews
Unknown
Sources
  • Expert Review Amber
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Tags
Amber Amber List (moderate evidence)
RBP4
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Retinol binding protein deficiency (Other disorders of vitamins and cofactors)
  • Posterior segment abnormalities
Tags
Amber Amber List (moderate evidence)
RNASEH2A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • Intracerebral calcification disorders
  • (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS4
  • Inherited white matter disorders
Tags
Amber Amber List (moderate evidence)
RNASEH2B
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS2
  • Intracerebral calcification disorders
  • Inherited white matter disorders
Tags
Amber Amber List (moderate evidence)
RNASEH2C
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS3
  • Intracerebral calcification disorders
  • Inherited white matter disorders
Tags
Amber Amber List (moderate evidence)
RNASET2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • RNASET2-deficient cystic leukoencephalopathy (Disorders of nucleotide metabolism)
  • Inherited white matter disorders
Tags
Amber Amber List (moderate evidence)
SC5D
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Lathosterolosis (Disorders of sterol biosynthesis)
  • Intellectual disability
  • Cataracts
Tags
Amber Amber List (moderate evidence)
SCN1B
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Nonspecific Cardiac Conduction Defect
  • Cardiac conduction defect, nonspecific
Tags
Amber Amber List (moderate evidence)
SDHAF2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Mitochondrial Diseases
  • Isolated complex II deficiency
  • Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Neuro-endocrine Tumours- PCC and PGL
  • Multiple endocrine tumours
  • Multiple Tumours
Tags
Amber Amber List (moderate evidence)
SDHC
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Mitochondrial Diseases
  • Isolated complex II deficiency
  • Neuro-endocrine Tumours- PCC and PGL
  • Multiple endocrine tumours
  • Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Multiple Tumours
Tags
Amber Amber List (moderate evidence)
SETX
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Charcot-Marie-Tooth disease
  • Hereditary ataxia
  • Amyotrophic lateral sclerosis/motor neuron disease
Tags
Amber Amber List (moderate evidence)
SKIV2L
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Infantile enterocolitis & monogenic inflammatory bowel disease
  • Trichohepatoenteric syndrome 2 (Other metabolic disorders)
Tags
Amber Amber List (moderate evidence)
SLC12A3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Gitelman syndrome (Disorder of magnesium metabolism)
  • Renal tubular acidosis
Tags
Amber Amber List (moderate evidence)
SLC18A2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism)
  • Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism) (NO phenotype number in OMIM)
Tags
Amber Amber List (moderate evidence)
SLC25A12
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Hypomyelination, global cerebral, 612949
  • Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Inherited white matter disorders
Tags
Amber Amber List (moderate evidence)
SLC2A1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • Familial Genetic Generalised Epilepsies
  • Early onset dystonia
  • Glucose transporter 1 deficiency (blood-brain barrier) (Disorders of glucose transport)
  • Hereditary ataxia
  • Epileptic encephalopathy
  • Cataracts
Tags
Amber Amber List (moderate evidence)
SLC35A1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Congenital disorder of glycosylation, type IIf 603585
  • Congenital disorder of glycosylation, type Iif, 603585
  • CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Tags
Amber Amber List (moderate evidence)
SLC35A2
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • Congenital disorder of glycosylation, type IIm 300896
  • SLC35A2-CDG (other congenital disorders of glycosylation)
Tags
Amber Amber List (moderate evidence)
SLC3A1
0 reviews
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Cystinuria (Disorders of amino acid transport)
  • Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)
  • Hypotonia-cystinuria syndrome (Disorders of amino acid transport)
Tags
Amber Amber List (moderate evidence)
SLC6A3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • Early onset dystonia
  • Dopamine transporter deficiency syndrome (Other disorders of neurotransmitter metabolism)
  • Parkinson Disease and Complex Parkinsonism
Tags
Amber Amber List (moderate evidence)
SLC6A8
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • Creatine transporter deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism)
Tags
Amber Amber List (moderate evidence)
SLC7A9
0 reviews
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Cystinuria (Disorders of amino acid transport)
  • Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)
Tags
Amber Amber List (moderate evidence)
SPR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • Early onset dystonia
  • Sepiapterin reductase deficiency (Disorders of pterin metabolism)
  • Parkinson Disease and Complex Parkinsonism
Tags
Amber Amber List (moderate evidence)
SPTLC1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Charcot-Marie-Tooth disease
  • Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)
  • Familial dysautonomia
Tags
Amber Amber List (moderate evidence)
SPTLC2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Charcot-Marie-Tooth disease
  • Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)
  • Familial dysautonomia
Tags
Amber Amber List (moderate evidence)
ST3GAL3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • Epileptic encephalopathy, early infantile, 15 615006
  • ST3GAL3-CDG (Disorders of protein N-glycosylation)
Tags
Amber Amber List (moderate evidence)
STS
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
Phenotypes
  • X-linked ichthyosis (Other disorders in the metabolism of sterols)
  • Autosomal recessive congenital ichthyosis
Tags
Amber Amber List (moderate evidence)
STT3A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • ?Congenital disorder of glycosylation, type Iw 615596
Tags
Amber Amber List (moderate evidence)
TARS2
0 reviews
Unknown
Sources
  • Expert Review Amber
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • ?Combined oxidative phosphorylation deficiency 21, 615918
Tags
Amber Amber List (moderate evidence)
TAT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • Tyrosinaemia type II (Disorders of phenylalanine or tyrosine metabolism)
Tags
Amber Amber List (moderate evidence)
TCN2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Congenital neutropaenia
  • Intellectual disability
  • A- or hypo-gammaglobulinaemia
  • Agranulocytosis
  • Combined B and T cell defect
  • SCID
  • Transcobalamin II deficiency (Disorders of cobalamin absorption, transport and metabolism)
Tags
Amber Amber List (moderate evidence)
TH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • Early onset dystonia
  • Tyrosine hydroxylase deficiency (Disorders of neurotransmitter metabolism, biogenic amines)
  • Parkinson Disease and Complex Parkinsonism
Tags
Amber Amber List (moderate evidence)
TIMM50
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • 3-methylglutaconic aciduria, type IX 617698
Tags
  • watchlist
Amber Amber List (moderate evidence)
TMEM126B
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Isolated complex I deficiency
Tags
Amber Amber List (moderate evidence)
TREX1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • Familial cerebral small vessel disease
  • Intracerebral calcification disorders
  • (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS1
  • Inherited white matter disorders
Tags
Amber Amber List (moderate evidence)
TTC37
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Infantile enterocolitis & monogenic inflammatory bowel disease
  • Trichohepatoenteric syndrome 1 (Other metabolic disorders)
Tags
Amber Amber List (moderate evidence)
TTPA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • TTP1 deficiency (Other disorders of vitamins and cofactors)
  • Hereditary ataxia
Tags
Amber Amber List (moderate evidence)
TTR
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • South West GLH
Phenotypes
  • syndromic HCM
Tags
Amber Amber List (moderate evidence)
TUFM
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Combined oxidative phosphorylation deficiency 4, 610678
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Combined oxidative phosphorylation deficiency 4 610678
Tags
Amber Amber List (moderate evidence)
UMOD
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Cystic kidney disease
  • Familial juvenile hyperuricaemic nephropathy (Disorders of purine metabolism)
  • Unexplained kidney failure in young people
Tags
Amber Amber List (moderate evidence)
UQCRB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 3 615158
  • Mitochondrial Diseases
  • Isolated complex III deficiency
  • Mitochondrial complex III deficiency, nuclear type 3, 615158
  • Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
Tags
Amber Amber List (moderate evidence)
UQCRQ
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 4, 615159
Tags
Amber Amber List (moderate evidence)
UROC1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • Urocanase deficiency (Disorders of histidine, tryptophan or lysine metabolism)
Tags
Amber Amber List (moderate evidence)
VIPAS39
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • ARC Syndrome (Other metabolic disorders)
  • Inherited bleeding disorders
  • Arthrogryposis
Tags
Amber Amber List (moderate evidence)
VKORC1
0 reviews
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Vitamin K epoxide reductase deficiency (Other disorders of vitamins and cofactors)
  • Inherited bleeding disorders
Tags
Amber Amber List (moderate evidence)
VPS33B
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Unexplained kidney failure in young people
  • ARC Syndrome (Other metabolic disorders)
  • CAKUT
  • Inherited bleeding disorders
  • Arthrogryposis
Tags
Amber Amber List (moderate evidence)
WFS1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Diabetes with additional phenotypes suggestive of a monogenic aetiology
  • Inherited optic neuropathies
  • Wolfram syndrome 1, 222300
  • Mitochondrial respiratory chain disorders caused by nuclear variants only
  • Hereditary ataxia
  • Familial diabetes
  • Congenital hearing impairment (profound/severe)
Tags
Amber Amber List (moderate evidence)
XPNPEP3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • nephronophthisis-like nephropathy
Tags
Red Red List (low evidence)
A2ML1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Noonan syndrome
Tags
Red Red List (low evidence)
ABCG2
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Primary idiopathic gout (Disorders of purine metabolism)
  • [Junior blood group system] 614490
  • [Uric acid concentration, serum, QTL1] 138900
Tags
Red Red List (low evidence)
ABL1
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
ACTA2
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
ACTB
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
ACTG1
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
ADAMTS10
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
ADAMTS17
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
AHCY
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • S-adenosylhomocysteine hydrolase deficiency (Disorders of the metabolism of sulphur amino acids)
Tags
Red Red List (low evidence)
AKT3
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
ALDH1B1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
  • Succinic semialdehyde dehydrogenase deficiency
Tags
Red Red List (low evidence)
ALG14
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227
  • Congenital myasthenic sydrome (Disorders of protein N-glycosylation)
Tags
Red Red List (low evidence)
ALG2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Myasthenic syndrome, congenital, 14, with tubular aggregates 616228
  • Mannosyltransferase 2 deficiency (Disorders of protein N-glycosylation)
  • ?Congenital disorder of glycosylation, type Ii 607906
Tags
Red Red List (low evidence)
ALMS1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • London South GLH
Phenotypes
  • dilated or restrictive cardiomyopathy
  • cone-rod dystrophy, obesity, progressive sensorineural hearing impairment, dilated or restrictive cardiomyopathy
  • progressive sensorineural hearing impairment
  • cone-rod dystrophy
  • obesity
Tags
Red Red List (low evidence)
AMPD1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Myoadenylate deaminase deficiency (Disorders of purine metabolism)
  • Myopathy due to myoadenylate deaminase deficiency 615511
Tags
Red Red List (low evidence)
ANO5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Limb-Girdle Muscular Dystrophy, Recessive
  • Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319
  • Gnathodiaphyseal dysplasia, 166260
Tags
Red Red List (low evidence)
AOX1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Xanthinuria type II (Disorders of purine metabolism)
Tags
Red Red List (low evidence)
ARSG
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • neuronal ceroid lipofuscinosis
Tags
Red Red List (low evidence)
ATAD3B
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Influence on AIDS progression
  • No OMIM phenotype
Tags
Red Red List (low evidence)
ATP5A1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • ?Combined oxidative phosphorylation deficiency 22
  • ?Combined oxidative phosphorylation deficiency 22 616045
  • ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4 615228
  • ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4
Tags
  • new-gene-name
Red Red List (low evidence)
ATP5B
1 review
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Red Red List (low evidence)
ATP5C1
1 review
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Red Red List (low evidence)
ATP5E
1 review
Unknown
Sources
  • Expert Review Red
Phenotypes
  • syndromic HCM
  • Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3
Tags
  • new-gene-name
Red Red List (low evidence)
ATP5G1
1 review
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Red Red List (low evidence)
ATP5G2
1 review
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Red Red List (low evidence)
ATP5G3
1 review
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Red Red List (low evidence)
ATP5I
1 review
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Red Red List (low evidence)
ATP5J
1 review
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Red Red List (low evidence)
ATP5O
1 review
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Red Red List (low evidence)
ATXN7
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia 7 164500
  • Spinocerebellar ataxia-7 (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Tags
Red Red List (low evidence)
BCAT1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria)
Tags
Red Red List (low evidence)
BCAT2
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria)
Tags
Red Red List (low evidence)
BCOR
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
BMPR2
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
BOLA1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
BOLA2
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
C1GALT1C1
0 reviews
Other - please specify in evaluation comments
Sources
  • Expert Review Red
Phenotypes
  • COSMC-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)
  • Tn polyagglutination syndrome, somatic
  • Tn polyagglutination syndrome, somatic 300622
Tags
Red Red List (low evidence)
CACNA1C
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Hypertrophic cardiomyopathy
  • Brugada syndrome
  • Long QT syndrome
Tags
Red Red List (low evidence)
CAD
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?Congenital disorder of glycosylation, type Iz 616457
Tags
Red Red List (low evidence)
CALM1
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
CALR3
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 19
Tags
Red Red List (low evidence)
CARS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • No OMIM phenotype
Tags
Red Red List (low evidence)
CASQ2
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Left ventricular non-compaction
  • Hypertrophic cardiomyopathy
  • Catecholaminergic polymorphic ventricular tachycardia
Tags
Red Red List (low evidence)
CAV3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Cardiomyopathy, familial hypertrophic,
Tags
Red Red List (low evidence)
CAVIN4
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dilated cardiomyopathy
Tags
Red Red List (low evidence)
CD320
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Methylmalonic aciduria due to transcobalamin receptor defect
Tags
Red Red List (low evidence)
CDK13
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
CEP89
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • isolated complex IV deficiency, intellectual disability and multisystemic problems
Tags
Red Red List (low evidence)
CETP
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Hyperalphalipoproteinemia 143470
  • [High density lipoprotein cholesterol level QTL 10] 143470
  • Familial hyperalphalipoproteinaemia (Disorders of high density lipoprotein metabolism)
Tags
Red Red List (low evidence)
CHD4
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
CHD7
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
CITED2
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
CLPS
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Pancreatic colipase deficiency (Other disorders of lipid and lipoprotein metabolism)
Tags
Red Red List (low evidence)
CNDP1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Carnosinaemia (Other disorders of peptide metabolism)
Tags
Red Red List (low evidence)
COA1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
COA5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • South West GLH
Phenotypes
  • ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
  • Mitochondrial complex IV deficiency, 220110
  • Isolated complex IV deficiency
  • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • syndromic HCM
Tags
Red Red List (low evidence)
COG2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?Congenital disorder of glycosylation, type IIq, 617395
Tags
Red Red List (low evidence)
COL4A2
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
COQ7
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • complex multisystem presentation
  • primary coenzyme Q10 deficiency
Tags
Red Red List (low evidence)
COX4I1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Mitochondrial Diseases
  • No OMIM phenotype
Tags
Red Red List (low evidence)
COX4I2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714
  • Mitochondrial Diseases
  • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 612714
Tags
Red Red List (low evidence)
COX5A
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
COX5B
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
COX6C
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
COX7A1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
COX7A2
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
COX7B2
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • ?{Nasopharyngeal carcinoma, susceptibility to}, 607107
Tags
Red Red List (low evidence)
COX7C
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
COX8A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Leigh-like syndrome and epilepsy
Tags
Red Red List (low evidence)
CREBBP
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
CTF1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • South West GLH
Tags
Red Red List (low evidence)
CTNNA3
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Arrhythmogenic right ventricular dysplasia, familial, 13,
Tags
Red Red List (low evidence)
CYP7A1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Cholesterol 7-alpha-hydroxylase deficiency (Disorders of bile acid biosynthesis)
  • Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Tags
Red Red List (low evidence)
CYR61
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
DDOST
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?Congenital disorder of glycosylation, type Ir 614507
Tags
Red Red List (low evidence)
DHFR2
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
DLST
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype?Familial Alzheimer disease
Tags
Red Red List (low evidence)
DMGDH
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dimethylglycine dehydrogenase deficiency 605850
  • Dimethylglycinuria (Disorders and variants of enzymes that oxidise xenobiotics other than cytochrome P450)
Tags
Red Red List (low evidence)
DMPK
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • syndromic DCM
Tags
Red Red List (low evidence)
DNM2
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Disorders of mitochondrial DNA maintenance and integrity
Tags
Red Red List (low evidence)
DPEP1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Cysteinylglycinase deficiency (Disorders of the gamma-glutamyl cycle)
Tags
Red Red List (low evidence)
DTD1
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
DTNA
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London South GLH
  • South West GLH
Phenotypes
  • Left ventricular noncompaction 1, with or without congenital heart defects,
Tags
Red Red List (low evidence)
DUX4
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Facioscapulohumeral Muscular Dystrophy 1A
Tags
Red Red List (low evidence)
ECSIT
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
  • Isolated complex I deficiency
Tags
Red Red List (low evidence)
EGF
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Hypomagnesaemia type 4, renal (Disorder of magnesium metabolism)
Tags
Red Red List (low evidence)
ELN
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
EMD
1 review
1 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • South West GLH
Phenotypes
  • Emery-Dreifuss muscular dystrophy 1, X-linked, 310300
Tags
Red Red List (low evidence)
ENPP1
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
ERCC6L2
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
EVC
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
FBN1
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
FBN2
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
FBP2
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • isolated lactic acidosis
Tags
Red Red List (low evidence)
FDX2
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype?Mitochondrial myopathy with lactic acidosis, association with, 255125
Tags
Red Red List (low evidence)
FHL2
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
FLNA
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
FLT4
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
FOLR2
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
FOLR3
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
FOXC1
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
FOXF1
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
FOXH1
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
FOXP1
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
FXYD2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Hypomagnesemia 2, renal 154020
  • Hypomagnesaemia type 2, renal (Disorder of magnesium metabolism)
Tags
Red Red List (low evidence)
GALNT12
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • (GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies))
  • GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)
  • {Colorectal cancer, susceptibility to, 1} 608812
Tags
Red Red List (low evidence)
GATA4
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
GATA5
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
GATA6
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
GATB
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Tags
Red Red List (low evidence)
GATC
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Tags
Red Red List (low evidence)
GCSH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Glycine encephalopathy
Tags
Red Red List (low evidence)
GDF1
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
GFM2
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Tags
Red Red List (low evidence)
GGT1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Gamma-glutamyl transpeptidase deficiency
  • Glutathionuria (Disorders of the gamma-glutamyl cycle)
Tags
Red Red List (low evidence)
GJA1
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
GJA5
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
GLS
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Glucosidase 1 deficiency (Disorders of protein N-glycosylation)
Tags
Red Red List (low evidence)
GORAB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Geroderma osteodysplasticum
Tags
Red Red List (low evidence)
GPC3
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
HAL
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Histidinaemia (Disorders of histidine, tryptophan or lysine metabolism)
Tags
Red Red List (low evidence)
HAND1
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
HAND2
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
HARS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • ?Perrault syndrome 2 614926
  • Perrault syndrome 2, 614926
Tags
Red Red List (low evidence)
HOXA1
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
HSPA9
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia
  • Epiphyseal, Vertebral, Ear, Nose, plus associated findings
Tags
Red Red List (low evidence)
HYKK
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Hydroxylysinuria (Disorders of histidine, tryptophan or lysine metabolism)
Tags
Red Red List (low evidence)
IDH3B
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
ILK
1 review
1 red
Unknown
Sources
  • Expert Review Red
  • South West GLH
Tags
Red Red List (low evidence)
INVS
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
IRX4
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
ISCA2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • infantile neurodegenerative mitochondrial disorder
Tags
Red Red List (low evidence)
JAG1
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
KANSL1
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
KCNA5
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
KCNJ8
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
KCNK3
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
KCNQ1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Short QT syndrome
  • Hypertrophic cardiomyopathy
  • Long QT syndrome
Tags
Red Red List (low evidence)
KHK
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Essential fructosuria (Disorders of fructose metabolism)
Tags
Red Red List (low evidence)
KLF10
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Hypertrophic cardiomyopathy
Tags
Red Red List (low evidence)
KMT2D
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
LACTB
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
LAMA4
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • South West GLH
Tags
Red Red List (low evidence)
LARS
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
LETM1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Tags
Red Red List (low evidence)
LFNG
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
  • ?Spondylocostal dysostosis 3, autosomal recessive 609813
  • ?Spondylocostal dysostosis 3, autosomal recessive, 609813
  • LFNG-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
Red Red List (low evidence)
LIPI
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • {Hypertriglyceridemia, susceptibility to}, 145750
  • Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias)
Tags
Red Red List (low evidence)
LIPT2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
LYRM4
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • ?Combined oxidative phosphorylation deficiency 19, 615595
Tags
Red Red List (low evidence)
LYRM7
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Isolated complex III deficiency
Tags
Red Red List (low evidence)
MCTP2
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
MECR
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
MED12
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
MED13L
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
MEIS2
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
MIB1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London South GLH
  • South West GLH
Phenotypes
  • Left ventricular noncompaction 7
Tags
Red Red List (low evidence)
MPC1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Mitochondrial pyruvate carrier deficiency, 614741
Tags
Red Red List (low evidence)
MPO
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
MRPL12
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • No OMIM phenotype
Tags
Red Red List (low evidence)
MRPL40
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
MRPS16
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Combined oxidative phosphorylation deficiency 2, 610498
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • CORPUS CALLOSUM, AGENESIS OF, WITH DYSMORPHISM AND FATAL LACTIC ACIDOSIS
Tags
Red Red List (low evidence)
MRPS2
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
MRPS23
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • hepatic disease and combined respiratory chain complex deficiencies
Tags
Red Red List (low evidence)
MRPS7
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Tags
Red Red List (low evidence)
MTHFD1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • {Abruptio placentae, susceptibility to}
  • {Spina bifida, folate-sensitive, susceptibility to} 601634 AR
Tags
Red Red List (low evidence)
MYCN
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
MYH11
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
MYLK
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
MYO6
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy
Tags
Red Red List (low evidence)
MYOM1
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
MYOZ2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 16,
Tags
Red Red List (low evidence)
NADK2
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
NAT8L
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?N-acetylaspartate deficiency 614063
Tags
Red Red List (low evidence)
NAXE
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
NDUFA12
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Leigh syndrome due to mitochondrial complex 1 deficiency, 256000
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Leigh syndrome due to mitochondrial complex 1 deficiency,256000
  • Isolated complex I deficiency
Tags
Red Red List (low evidence)
NDUFA13
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Mitochondrial Diseases
  • {Thyroid carcinoma, Hurthle cell}, 607464
  • Isolated complex I deficiency
Tags
Red Red List (low evidence)
NDUFA3
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
  • Isolated complex I deficiency
Tags
Red Red List (low evidence)
NDUFA5
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
  • Isolated complex I deficiency
Tags
Red Red List (low evidence)
NDUFA6
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
  • Isolated complex I deficiency
Tags
Red Red List (low evidence)
NDUFA7
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
  • Isolated complex I deficiency
Tags
Red Red List (low evidence)
NDUFA8
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Mitochondrial Diseases
  • No OMIM phenotype
  • Isolated complex I deficiency
Tags
Red Red List (low evidence)
NDUFA9
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Leigh syndrome due to mitochondrial complex I deficiency, 256000
  • Leigh syndrome due to mitochondrial complex I deficiency, 256000 -3
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Isolated complex I deficiency
Tags
Red Red List (low evidence)
NDUFAB1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
  • Isolated complex I deficiency
Tags
Red Red List (low evidence)
NDUFB1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
  • Isolated complex I deficiency
Tags
Red Red List (low evidence)
NDUFB10
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
  • Isolated complex I deficiency
Tags
Red Red List (low evidence)
NDUFB2
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Isolated complex I deficiency
Tags
Red Red List (low evidence)
NDUFB4
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
  • Isolated complex I deficiency
Tags
Red Red List (low evidence)
NDUFB5
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Isolated complex I deficiency
Tags
Red Red List (low evidence)
NDUFB6
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Isolated complex I deficiency
Tags
Red Red List (low evidence)
NDUFB7
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
  • Isolated complex I deficiency
Tags
Red Red List (low evidence)
NDUFB8
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
  • Isolated complex I deficiency
Tags
Red Red List (low evidence)
NDUFC1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
  • Isolated complex I deficiency
Tags
Red Red List (low evidence)
NDUFC2
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
  • Isolated complex I deficiency
Tags
Red Red List (low evidence)
NDUFS5
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Mitochondrial Diseases
  • No OMIM phenotype
  • Isolated complex I deficiency
Tags
Red Red List (low evidence)
NDUFV3
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Mitochondrial Diseases
  • No OMIM phenotype
  • Isolated complex I deficiency
Tags
Red Red List (low evidence)
NEBL
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • South West GLH
Tags
Red Red List (low evidence)
NFS1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
NKX2-5
0 reviews
Unknown
Sources
  • Expert Review Red
  • London South GLH
Phenotypes
  • Atrialseptaldefect7,withorwithoutAVconductiondefects,108900
Tags
Red Red List (low evidence)
NKX2-6
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
NNT
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
NOTCH1
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
NOTCH2
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
NOTCH3
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
NPPA
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dilated cardiomyopathy
Tags
Red Red List (low evidence)
NR2F2
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
NSD1
0 reviews
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
NT5C
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Pyrimidine - 5 - nucleotidase deficiency (Disorders of pyrimidine metabolism)
Tags