Description
Undiagnosed metabolic disorders eligibility statement:

Undiagnosed metabolic disorders inclusion criteria (37624)
•	Any patient seen in a metabolic clinic considered likely to have a monogenic disorder by a consultant Metabolic physician

Undiagnosed metabolic disorders exclusion criteria (37624)

Prior genetic testing guidance (37624)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Undiagnosed metabolic disorders prior genetic testing genes (37624)
Genetic testing in line with current local practice should be considered in parallel with recruitment but is NOT required prior to recruitment.

Closing statement (37624)
These requirements will be kept under continual review during the main programme and may be subject to change.

10 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Richard Scott (Genomics England Curator)

    Group: Other
    Workplace: Genomics England

  • Olivia Niblock (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (NIHR BioResource - Rare Diseases Study (NIHRBR-RD), University of Cambridge & NHS Blood and Transplant)

    Group: Other NHS organisation
    Workplace: Other

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Saikat Santra (Birmingham Children's Hospital)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Arianna Tucci (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Helen Brittain (Genomics England Curator)

    Group: Other
    Workplace: Other

733 genes

407 reviewed, 544 green

List Gene Reviews Mode of inheritance Details
733 genes
Green Green List (high evidence)
B3GLCT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
  • Peters-plus syndrome 261540
  • O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Green Green List (high evidence)
COQ8A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 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
  • Coenzyme Q10 deficiency
Green Green List (high evidence)
LARGE1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840
  • N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Green Green List (high evidence)
TWNK
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of mitochondrial DNA maintenance and integrity
  • Progressive external ophthalmoplegia, autosomal dominant, 3, 609286Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245
  • Mitochondrial DNA Depletion Syndrome
  • Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions (monoallelic)
  • Mitochondrial Membrane Protein-Associated Neurodegeneration (biallelic)
  • Mitochondrial DNA Depletion Syndrome (biallelic)
Green Green List (high evidence)
AARS2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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 8, 614096
  • infantile mitochondrial cardiomyopathy
Green Green List (high evidence)
AASS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Hyperlysinaemia (Disorders of histidine, tryptophan or lysine metabolism)
  • Intellectual disability
  • Hyperlysinemia 238700
Green Green List (high evidence)
ABAT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • GABA transaminase deficiency (Disorders of neurotransmitter metabolism, gamma-aminobutyrate)
  • mtDNA depletion syndrome
  • 613163
Green Green List (high evidence)
ABCA1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Tangier disease (Disorders of high density lipoprotein metabolism)
Green Green List (high evidence)
ABCB11
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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
Green Green List (high evidence)
ABCB4
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Progressive familial intrahepatic cholestasis type 3 (Disorders of bile acid metabolism and transport)
  • Cholestasis, intrahepatic, of pregnancy, 3 614972 AD, AR
  • Cholestasis, progressive familial intrahepatic 3 602347 AR
  • Gallbladder disease 1 600803 AD, AR
Green Green List (high evidence)
ABCB7
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 Green
  • Literature
Phenotypes
  • Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of iron homeostasis
  • Anemia, sideroblastic, with ataxia
  • congenital cerebellar hypoplasia/atrophy (PMID: 26242992).
Green Green List (high evidence)
ABCD1
2 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • X-linked adrenoleukodystrophy (Disorders of peroxisomal alpha-, beta and omega-oxidation)
  • Adrenoleukodystrophy 300100
Tags
  • gene-therapy-trial
Green Green List (high evidence)
ABCD4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblJ type 614857
Green Green List (high evidence)
ABHD5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neutral lipid storage disease (Disorders of lipolysis)
  • Chanarin-Dorfman syndrome 275630
Green Green List (high evidence)
ACAD8
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Isobutyric aciduria (Organic acidurias)
Green Green List (high evidence)
ACAD9
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Isolated complex I deficiency
  • ACAD9 deficiency, 611126
  • Mitochondrial complex I deficiency due to ACAD9 deficiency
Green Green List (high evidence)
ACADM
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Medium - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation)
  • Acyl-CoA dehydrogenase, medium chain, deficiency of
Green Green List (high evidence)
ACADS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Acyl-CoA dehydrogenase, short-chain, deficiency of 201470
Green Green List (high evidence)
ACADSB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 2-Methylbutyric aciduria (Organic acidurias)
  • 2-methylbutyrylglycinuria 610006
Green Green List (high evidence)
ACADVL
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation)
  • VLCAD deficiency
Green Green List (high evidence)
ACAT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • 3-Oxothiolase deficiency (Organic acidurias)
  • Cytosolic acetoacetyl-CoA thiolase deficiency (Disorders of ketone body metabolism)
  • Fasting intolerance with acidosis, ? residual neurological problems
Green Green List (high evidence)
ACO2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Infantile cerebellar-retinal degeneration, 614559
Green Green List (high evidence)
ACOX1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peroxisomal acyl-CoA oxidase 1 deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation)
  • Peroxisomal acyl-CoA oxidase deficiency
Green Green List (high evidence)
ACSF3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Combined methylmalonic and malonic aciduria (Organic acidurias)
  • Combined malonic and methylmalonic aciduria 614265
Green Green List (high evidence)
ADAR
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Aicardi-Goutieres syndrome 6 615010
  • Dyschromatosis symmetrica hereditaria 127400
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
  • Literature
Phenotypes
  • Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of mitochondrial DNA maintenance and integrity
  • Spinocerebellar ataxia 28, 610246
  • Ataxia, spastic, 5, autosomal recessive, 614487
Green Green List (high evidence)
AGA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Aspartylglucosaminuria 208400
Green Green List (high evidence)
AGK
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Acylglycerol kinase deficiency (Senger syndrome) (Disorders of complex lipid synthesis)
  • Sengers syndrome, 212350
  • Mitochondrial DNA depletion syndrome 10
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Disorders of mitochondrial lipid metabolism
  • Cataract 38, autosomal recessive, 614691
  • Sengers syndrome 212350
Green Green List (high evidence)
AGL
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Glycogen storage disease type III, Cori (Glycogen storage disorders)
  • myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance
  • Glycogen storage disease IIIa, 232400
  • Glycogen storage disease IIIb, 232400
  • Glycogen Storage Disease Type III
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disorders- Muscle
  • Glycogen Storage Disease
Green Green List (high evidence)
AGPS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Rhizomelic chondrodysplasia punctata type 3 (Peroxisomal disorders)
  • Rhizomelic chondrodysplasia punctata, type 3 600121
Green Green List (high evidence)
AGXT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Primary hyperoxaluria type I (Disorders of glyoxylate metabolism)
  • Primary hyperoxaluria type I (Other peroxisomal disorders)
  • Hyperoxaluria, primary, type 1
Green Green List (high evidence)
AIFM1
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of mitochondrial apoptosis
  • Combined oxidative phosphorylation deficiency 6, 300816
  • Cowchock syndrome, 310490
Green Green List (high evidence)
AKR1D1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ?4-3-oxysterol 5?-reductase deficiency (Disorders of bile acid biosynthesis)
  • Bile acid synthesis defect, congenital, 2 235555
Green Green List (high evidence)
ALAD
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Acute hepatic porphyria (Acute neuropathic porphyrias)
  • Porphyria, acute hepatic 612740
  • {Lead poisoning, susceptibility to} 612740
Green Green List (high evidence)
ALDH18A1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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
Green Green List (high evidence)
ALDH4A1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
Phenotypes
  • Hyperprolinaemia type II (Disorders of ornithine or proline metabolism)
  • Intellectual disability
  • Hyperprolinemia, type II 239510
Green Green List (high evidence)
ALDH5A1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Succinic semialdehyde dehydrogenase deficiency 271980
Green Green List (high evidence)
ALDH6A1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 3-Hydroxyisobutyric aciduria (Organic acidurias)
  • Methylmalonate semialdehyde dehydrogenase deficiency (Organic acidurias)
  • Methylmalonate semialdehyde dehydrogenase deficiency 614105
Green Green List (high evidence)
ALDH7A1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Literature
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epilepsy, pyridoxine-dependent 266100
Green Green List (high evidence)
ALDOA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Aldolase A deficiency (Glycogen storage disorders)
  • Glycogen storage disease XII, 611881
  • Glycogen Storage Disease
Green Green List (high evidence)
ALDOB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary fructose intolerance (Disorders of fructose metabolism)
  • acidosis with ketototic hypoglycaemia often hepatomegaly in acute presentation
  • hereditary fructose intolerance
Green Green List (high evidence)
ALG1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mannosyltransferase 1 deficiency (Disorders of protein N-glycosylation)
  • Congenital disorder of glycosylation, type Ik 608540
Green Green List (high evidence)
ALG11
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ALG11-CDG (Disorders of protein N-glycosylation)
  • Congenital disorder of glycosylation, type Ip 613661
  • ALG11-CDG (Disorders of protein N-glycosylation)
Green Green List (high evidence)
ALG12
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mannosyltransferase 8 deficiency (Disorders of protein N-glycosylation)
  • Congenital disorder of glycosylation, type Ig 607143
  • Mannosyltransferase 8 deficiency (Disorders of protein N-glycosylation)
Green Green List (high evidence)
ALG3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mannosyltransferase 6 deficiency (Disorders of protein N-glycosylation)
  • ALG3-CDG (Disorders of protein N-glycosylation)
  • Congenital disorder of glycosylation, type Id 601110
  • Mannosyltransferase 6 deficiency ALG3-CDG (Disorders of protein N-glycosylation)
Green Green List (high evidence)
ALG6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Glucosyltransferase 1 deficiency (Disorders of protein N-glycosylation)
  • Congenital disorder of glycosylation, type Ic 603147
  • Glucosyltransferase 1 deficiency (Disorders of protein N-glycosylation)
Green Green List (high evidence)
ALG8
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Glucosyltransferase 2 deficiency (Disorders of protein N-glycosylation)
  • Congenital disorder of glycosylation, type Ih 608104
  • Glucosyltransferase 2 deficiency (Disorders of protein N-glycosylation)
Green Green List (high evidence)
ALG9
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mannosyltransferase 7-9 deficiency (Disorders of protein N-glycosylation)
  • ALG9-CDG (Disorders of protein N-glycosylation)
  • Congenital disorder of glycosylation, type Il 608776
Green Green List (high evidence)
AMACR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Alpha-methylacyl-CoA racemase deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation)
  • Alpha-methylacyl-CoA racemase deficiency
Green Green List (high evidence)
AMN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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
Green Green List (high evidence)
AMT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Glycine encephalopathy 605899
Green Green List (high evidence)
ANO10
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 10, 613728
Green Green List (high evidence)
APOA1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Apolipoprotein A-I deficiency (Disorders of high density lipoprotein metabolism)
  • Amyloidosis, 3 or more types 105200
  • ApoA-I and apoC-III deficiency, combined
  • Corneal clouding, autosomal recessive
  • Hypoalphalipoproteinemia 604091
Green Green List (high evidence)
APOA5
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias)
  • Hyperchylomicronemia, late-onset 144650
  • {Hypertriglyceridemia, susceptibility to} 145750
Green Green List (high evidence)
APOC2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Familial apolipoprotein C - II deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias)
  • Hyperlipoproteinemia, type Ib 207750
Green Green List (high evidence)
APOE
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Familial dysbetalipoproteinaemia (Inherited mixed hyperlipidaemias)
  • Hyperlipoproteinemia, type III 617347
  • Lipoprotein glomerulopathy 611771
  • Sea-blue histiocyte disease 269600
Green Green List (high evidence)
APOPT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Isolated complex IV deficiency
  • Mitochondrial complex IV deficiency, 220110
Green Green List (high evidence)
APRT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Adenine phosphoribosyl transferase deficiency (Disorders of purine metabolism)
  • Adenine phosphoribosyltransferase deficiency 614723
Green Green List (high evidence)
APTX
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of ubiquinone metabolism and biosynthesis
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920
  • Ataxia with oculomotor apraxia 1
Green Green List (high evidence)
ARG1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Argininaemia (Urea cycle disorders and inherited hyperammonaemias)
  • Argininemia 207800
Green Green List (high evidence)
ARSA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
  • UKGTN
  • Expert Review Green
Phenotypes
  • Metachromatic leukodystrophy 250100
Green Green List (high evidence)
ARSB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • MPS VI, Maroteaux - Lamy disease (MPS IV, Morquio disease)
  • Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200
  • Mucopolysaccharidosis, Type VI
  • Mucopolysaccharidosis Type VI
  • MUCOPOLYSACCHARIDOSIS TYPE 6
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
Green Green List (high evidence)
ASL
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Argininosuccinic aciduria (Urea cycle disorders and inherited hyperammonaemias)
  • Argininosuccinic aciduria
Green Green List (high evidence)
ASPA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
Phenotypes
  • Canavan disease 271900
Green Green List (high evidence)
ASS1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Citrullinaemia type1 (Urea cycle disorders and inherited hyperammonaemias)
  • Citrullinemia
Green Green List (high evidence)
ATIC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • AICAR transformylase deficiency (Disorders of purine metabolism)
  • Intellectual disability
Green Green List (high evidence)
ATP13A2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Kufor-Rakeb syndrome 606693
  • Spastic paraplegia 78, autosomal recessive 617225
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
Green Green List (high evidence)
ATP6V0A2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • 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
  • V0 subunit A2 of vesicular H(+)-ATPase deficiency (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies)
Green Green List (high evidence)
ATP7A
2 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Menkes disease 309400
  • Occipital horn syndrome 304150
  • Spinal muscular atrophy, distal, X-linked 3 300489
Tags
  • treatable
Green Green List (high evidence)
ATP7B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Wilson disease 277900
Green Green List (high evidence)
ATP8B1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Byler disease (Disorders of bile acid metabolism and transport)
  • Cholestasis, benign recurrent intrahepatic 243300 AR
  • Cholestasis, intrahepatic, of pregnancy, 1 147480 AD
  • Cholestasis, progressive familial intrahepatic 1 211600
Green Green List (high evidence)
ATPAF2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Isolated complex V deficiency
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273
  • Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type
  • Mitochondrial Diseases
Green Green List (high evidence)
AUH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Methylglutaconic aciduria type I (Organic acidurias)
  • 3-methylglutaconic aciduria, type I
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, type A, 11
Green Green List (high evidence)
B3GALT6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ehlers-Danlos syndrome, progeroid type, 2
Green Green List (high evidence)
B3GAT3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
  • 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)
Green Green List (high evidence)
B4GALT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • 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
  • Beta-1,4-galactosyltransferase 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Green Green List (high evidence)
B4GALT7
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Beta-1,4-galactosyltransferase 7 deficiency (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
  • B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
  • 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)
Green Green List (high evidence)
BAAT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypercholanemia, familial 607748
  • Bile acid amidation defect (Disorders of bile acid biosynthesis)
Green Green List (high evidence)
BCKDHA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • BCKD E1 alpha subunit of deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria)
  • Maple syrup urine disease, type Ia
Green Green List (high evidence)
BCKDHB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • BCKD E1 beta subunit of deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria)
  • Maple syrup urine disease, type Ib
Green Green List (high evidence)
BCKDK
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Literature
  • Expert Review Green
Phenotypes
  • Branched-chain ketoacid dehydrogenase kinase deficiency 614923
Green Green List (high evidence)
BCS1L
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Isolated complex III deficiency
  • Mitochondrial complex III deficiency, nuclear type 1, 124000Leigh syndrome, 256000Bjornstad syndrome, 262000GRACILE syndrome, 603358
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex III Deficiency
Green Green List (high evidence)
BOLA3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of iron homeostasis
  • Multiple mitochondrial dysfunctions syndrome 2, 614299
  • Hyperglycinaemia, non-ketotic (Baker (2014) Brain 137,366)
  • Multiple Mitochondrial Dysfunctions Syndrome
Green Green List (high evidence)
BTD
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Biotinidase deficiency (Disorders of biotin metabolism)
  • lactic acidosis with seizures and eczema,immune deficiency
  • Biotinidase deficiency
Green Green List (high evidence)
C12orf65
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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 7, 613559
  • Spastic paraplegia 55, autosomal recessive, 615035
Green Green List (high evidence)
C19orf12
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism)
  • Neurodegeneration with brain iron accumulation 4, 614298
  • Mitochondrial Membrane Protein-Associated Neurodegeneration
Green Green List (high evidence)
CA5A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hyperammonemia (Urea cycle disorders and inherited hyperammonaemias)
  • Hyperammonemia due to carbonic anhydrase VA deficiency
Green Green List (high evidence)
CAT
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Acatalasaemia (Other peroxisomal disorders)
  • Acatalasemia, 614097
Green Green List (high evidence)
CBS
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Homocystinuria, B6-responsive and nonresponsive types 236200
  • Thrombosis, hyperhomocysteinemic 236200
Tags
  • treatable
Green Green List (high evidence)
CCDC115
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type IIo 616828
Green Green List (high evidence)
CHCHD10
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • ?Myopathy, isolated mitochondrial, autosomal dominant, 616209
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
  • Spinal muscular atrophy, Jokela type
Green Green List (high evidence)
CHKB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Choline kinase deficiency (Disorders of complex lipid synthesis)
  • Muscular dystrophy, congenital, megaconial type, 602541
Green Green List (high evidence)
CHST14
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • CHST14-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
  • Ehlers-Danlos syndrome, musculocontractural type 1 601776
  • CHST14-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Green Green List (high evidence)
CHST3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • CHST3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
  • Spondyloepiphyseal dysplasia with congenital joint dislocations 143095
  • CHST3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Green Green List (high evidence)
CHST6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • CHST6-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
  • Macular corneal dystrophy 217800
  • CHST6-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Green Green List (high evidence)
CHSY1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
  • Temtamy preaxial brachydactyly syndrome 605282
  • CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Green Green List (high evidence)
CLN3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 3 204200
Green Green List (high evidence)
CLN5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 5 256731
Green Green List (high evidence)
CLN6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 6 601780
  • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset 204300
Green Green List (high evidence)
CLN8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 8 600143
  • Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003
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
  • progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder
  • cataract, neutropenia, epilepsy
  • congenital microcephaly and severe encephalopathy
Green Green List (high evidence)
CLPP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Perrault syndrome 3, 614129
Green Green List (high evidence)
CNNM2
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypomagnesaemia type 6, renal (Disorder of magnesium metabolism)
  • Hypomagnesemia 6, renal 613882
  • Hypomagnesemia, seizures, and mental retardation 616418
Green Green List (high evidence)
COG1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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
  • Component of COG complex 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
Green Green List (high evidence)
COG4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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
  • Component of COG complex 4 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
Green Green List (high evidence)
COG5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Component of COG complex 5 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
  • 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)
Green Green List (high evidence)
COG6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Component of COG complex 6 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
  • Congenital disorder of glycosylation, type IIl 614576
  • Shaheen syndrome 615328
  • Component of COG complex 6 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
Green Green List (high evidence)
COG7
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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
  • Component of COG complex 7 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
Green Green List (high evidence)
COG8
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Component of COG complex 8 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
  • 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)
Green Green List (high evidence)
COQ2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 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
  • Coenzyme Q10 deficiency
  • {Multiple system atrophy, susceptibility to}, 146500
Green Green List (high evidence)
COQ4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Coenzyme Q10 deficiency, primary, 7
  • Disorders of ubiquinone metabolism and biosynthesis
Green Green List (high evidence)
COQ6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Steroid-resistant nephrotic syndrome
  • Disorders of ubiquinone metabolism and biosynthesis
  • Coenzyme Q10 deficiency, primary, 6, 614650
Green Green List (high evidence)
COQ8B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nephrotic syndrome, type 9
Green Green List (high evidence)
COQ9
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of ubiquinone metabolism and biosynthesis
  • Coenzyme Q10 deficiency, primary, 5, 614654
  • Coenzyme Q10 deficiency
Green Green List (high evidence)
COX10
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Isolated complex IV deficiency
  • Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome coxidase deficiency
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex IV Deficiency
Green Green List (high evidence)
COX14
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Isolated complex IV deficiency
  • Mitochondrial complex IV deficiency, 220110
Green Green List (high evidence)
COX15
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Isolated complex IV deficiency
  • Leigh syndrome due to cytochrome c oxidase deficiency, 256000Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex IV Deficiency
Green Green List (high evidence)
COX20
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Isolated complex IV deficiency
  • Mitochondrial complex IV deficiency, 220110
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
Green Green List (high evidence)
COX6B1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Isolated complex IV deficiency
  • Cytochrome c oxidase deficiency, 220110
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex IV Deficiency
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
  • Literature
Phenotypes
  • 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
  • Linear skin defects with multiple congenital anomalies
Green Green List (high evidence)
CP
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cerebellar ataxia 604290
  • Hemosiderosis, systemic, due to aceruloplasminemia 604290
  • [Hypoceruloplasminemia, hereditary] 604290
Green Green List (high evidence)
CPOX
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary coproporphyria (Acute neuropathic porphyrias)
  • Coproporphyria 121300
  • Harderoporphyria 121300
Tags
  • treatable
Green Green List (high evidence)
CPS1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Carbamoylphosphate synthetase I deficiency (Urea cycle disorders and inherited hyperammonaemias)
  • Carbamoylphosphate synthetase I deficiency
Green Green List (high evidence)
CPT1A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Carnitine palmitoyltransferase I (CPTI) deficiency (Disorders of carnitine transport and the carnitine cycle)
  • CPT deficiency, hepatic, type IA
Green Green List (high evidence)
CPT2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle)
  • CPT deficiency, hepatic, type II 600649
  • CPT II deficiency, lethal neonatal 608836
Green Green List (high evidence)
CTH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Literature
Phenotypes
  • Cystathioninuria 219500 AR
  • Homocysteine, total plasma, elevated
Green Green List (high evidence)
CTNS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
Phenotypes
  • Cystinosis, atypical nephropathic 219800
  • Cystinosis, late-onset juvenile or adolescent nephropathic 219900
  • Cystinosis, nephropathic 219800
  • Cystinosis, ocular nonnephropathic 219750
Green Green List (high evidence)
CTSA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Galactosialidosis 256540
Green Green List (high evidence)
CTSD
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
  • Literature
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 10 610127
Green Green List (high evidence)
CTSK
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Pycnodysostosis 265800
Green Green List (high evidence)
CUBN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intrinsic factor receptor deficiency due to CUBN mutations (Disorders of cobalamin absorption, transport and metabolism)
  • Proteinuric renal disease
  • Unexplained kidney failure in young people
  • Megaloblastic anemia-1, Finnish type 261100
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
Green Green List (high evidence)
CYP27A1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Cerebrotendinous xanthomatosis 213700
Green Green List (high evidence)
D2HGDH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
  • Expert Review Green
  • UKGTN
Phenotypes
  • D-2-hydroxyglutaric aciduria 600721
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
Green Green List (high evidence)
DARS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Green Green List (high evidence)
DBH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Expert Review Green
Phenotypes
  • Dopamine beta-hydroxylase deficiency 223360 AR
  • [Dopamine-beta-hydroxylase activity levels, plasma]
  • Dopamine beta-hydroxylase deficiency (Disorders of neurotransmitter metabolism, biogenic amines)
Tags
  • treatable
Green Green List (high evidence)
DBT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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
Green Green List (high evidence)
DDC
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
  • Literature
Phenotypes
  • Aromatic L-amino acid decarboxylase deficiency 608643
Green Green List (high evidence)
DGUOK
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Deoxyguanosine kinase deficiency (Disorders of purine metabolism)
  • Disorders of mitochondrial DNA maintenance and integrity
  • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880
  • Mitochondrial DNA Depletion Syndrome
Green Green List (high evidence)
DHFR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dihydrofolate reductase deficiency (Disorders of folate metabolism and transport)
  • Megaloblastic anemia due to dihydrofolate reductase deficiency
Green Green List (high evidence)
DHTKD1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • 2-Aminoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism)
  • 2-Oxoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism)
  • 2-aminoadipic and 2-oxoadipic aciduria, 204750
Green Green List (high evidence)
DLAT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dihydrolipoyl transacetylase deficiency (Disorders of pyruvate metabolism)
  • Pyruvate dehydrogenase E2 deficiency, 245348
Green Green List (high evidence)
DLD
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dihydrolipoyl dehydrogenase deficiency (Disorders of pyruvate metabolism)
  • Dihydrolipoamide dehydrogenase deficiency, 246900
  • Leigh syndrome
Green Green List (high evidence)
DNA2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Disorders of mitochondrial DNA maintenance and integrity
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6
  • 615156
Green Green List (high evidence)
DNAJC12
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Hyperphenylalaninemia, mild, non-BH4-deficient, 617384
Green Green List (high evidence)
DNAJC19
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • 3-methylglutaconic aciduria, type V 610198
Green Green List (high evidence)
DNAJC5
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 4, Parry type 162350
Green Green List (high evidence)
DNM1L
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388
  • Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission
Green Green List (high evidence)
DOLK
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
  • Congenital disorder of glycosylation, type Im 610768
  • Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Green Green List (high evidence)
DPAGT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation)
  • Congenital disorder of glycosylation, type Ij 608093
  • Myasthenic syndrome, congenital, 13, with tubular aggregates 614750
  • UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation)
Green Green List (high evidence)
DPM1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
  • Congenital disorder of glycosylation, type Ie 608799
  • GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Green Green List (high evidence)
DPM2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type Iu 615042
Green Green List (high evidence)
DPYD
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Dihydropyrimidine dehydrogenase deficiency (Disorders of pyrimidine metabolism)
  • Dihydropyrimidine dehydrogenase deficiency 274270
Tags
  • pharmacogenetics
Green Green List (high evidence)
DPYS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Dihydropyrimidinase deficiency (Disorders of pyrimidine metabolism)
Green Green List (high evidence)
DYM
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Dyggve-Melchior-Clausen disease, 223800
  • Smith-McCort dysplasia, 607326
Green Green List (high evidence)
EARS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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 12, 614924
Green Green List (high evidence)
EBP
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • X-linked dominant chondrodysplasia punctata 2 (Disorders of sterol biosynthesis)
  • Chondrodysplasia punctata, X-linked dominant 302960 XLD
  • MEND syndrome 300960 XLR
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
Green Green List (high evidence)
ELAC2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 17, 615440
  • infantile hypertrophic cardiomyopathy, lactic acidosis, and isolated complex I deficiency
Green Green List (high evidence)
ENO3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert Review Green
  • Literature
Phenotypes
  • ?Glycogen storage disease XIII 612932
  • Rhabdomyolysis and metabolic muscle disorders
Green Green List (high evidence)
EPG5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Vici syndrome, 242840
  • IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
Green Green List (high evidence)
EPM2A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Epilepsy, progressive myoclonic 2A (Lafora) 254780
Green Green List (high evidence)
ETFA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Electron transfer flavoprotein deficiency, alpha chain (Disorders of mitochondrial fatty acid oxidation)
  • Glutaric acidemia IIA
Green Green List (high evidence)
ETFB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Electron transfer flavoprotein deficiency, beta chain (Disorders of mitochondrial fatty acid oxidation)
  • Glutaric acidemia IIB
Green Green List (high evidence)
ETFDH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation)
  • Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Glutaric acidemia IIC
  • Disorders of ubiquinone metabolism and biosynthesis
  • GLUTARIC ACIDURIA TYPE 2C
Green Green List (high evidence)
ETHE1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Isolated complex IV deficiency
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Ethylmalonic encephalopathy, 602473
  • Ethylmalonic encephalopathy
Green Green List (high evidence)
EXT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
  • Exostoses, multiple, type 1 133700
Green Green List (high evidence)
EXT2
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
  • ?Seizures, scoliosis, and macrocephaly syndrome 616682
  • Exostoses, multiple, type 2 133701
  • Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
Green Green List (high evidence)
FA2H
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Fatty acid 2-hydroxylase deficiency (Disorders of complex lipid synthesis)
  • Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism)
  • Early onset dystonia
  • Hereditary spastic paraplegia
Green Green List (high evidence)
FAH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Tyrosinemia, type I 276700
Green Green List (high evidence)
FAR1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Green Green List (high evidence)
FARS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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 14, 614946
Green Green List (high evidence)
FASTKD2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Isolated complex IV deficiency
  • Mitochondrial complex IV deficiency, 220110
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex IV Deficiency
Green Green List (high evidence)
FBP1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Fructose-1,6-bisphosphatase deficiency (Disorders of gluconeogenesis)
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disease
Green Green List (high evidence)
FBXL4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of mitochondrial DNA maintenance and integrity
  • Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471
  • fatal encephalopathy, lactic acidosis, and severe MTDNA depletion in muscle.
Green Green List (high evidence)
FH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Fumarase deficiency (Disorders of the citric acid cycle)
  • Fumarase deficiency, 606812
Green Green List (high evidence)
FKRP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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 613153
  • Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155
Green Green List (high evidence)
FKTN
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800
  • Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588
Green Green List (high evidence)
FMO3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Trimethylaminuria (Disorders and variants of enzymes that oxidise xenobiotics other than cytochrome P450)
Green Green List (high evidence)
FOLR1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cerebral folate deficiency due to FOLR1 deficiency (Disorders of folate metabolism and transport)
  • Neurodegeneration due to cerebral folate transport deficiency, 613068
Green Green List (high evidence)
FOXRED1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Isolated complex I deficiency
  • Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Green Green List (high evidence)
FUCA1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Fucosidosis 230000
Green Green List (high evidence)
G6PC
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Glycogen storage disease type 1a, von Gierke (Glycogen storage disorders)
  • fasting intolerance with enlarged liver, renal tubular disease
  • Glycogen storage disease Ia, 232200
  • Glycogen Storage Disease Type I
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disease
  • Glycogen Storage Disease Ia
Green Green List (high evidence)
G6PC3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
Phenotypes
  • Dursun syndrome 612541
  • Neutropenia, severe congenital 4, autosomal recessive 612541
Green Green List (high evidence)
GAA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Literature
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Glycogen storage disease II 232300
Green Green List (high evidence)
GABRG2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert Review Green
  • UKGTN
Phenotypes
  • Epilepsy, generalized, with febrile seizures plus, type 3 611277
  • Febrile seizures, familial, 8 611277
  • {Epilepsy, childhood absence, susceptibility to, 2} 607681
Green Green List (high evidence)
GALC
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
  • Expert Review Green
Phenotypes
  • Krabbe disease 245200
Green Green List (high evidence)
GALE
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Uridine diphosphate galactose-4-epimerase deficiency (Disorders of galactose metabolism)
  • Intellectual disability
Green Green List (high evidence)
GALK1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Galactokinase deficiency with cataracts 230200
Green Green List (high evidence)
GALNS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • MPS IVA, Morquio A disease (MPS IV, Morquio disease)
  • Mucopolysaccharidosis IVA, 253000
  • Mucopolysaccharidosis, Type IV
  • Mucopolysaccharidosis Type IVA
  • MUCOPOLYSACCHARIDOSIS TYPE 4A
Green Green List (high evidence)
GALNT3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Polypeptide N-acetylgalactosaminyl transferase deficiency (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)
  • Tumoral calcinosis, hyperphosphatemic, familial 211900
Green Green List (high evidence)
GALT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Classical galactosaemia (Disorders of galactose metabolism)
  • Cataracts
  • Intellectual disability
  • Galactosemia 230400
Green Green List (high evidence)
GARS
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Charcot-Marie-Tooth disease, type 2D
  • Neuropathy, distal hereditary motor, type VA
Green Green List (high evidence)
GATM
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Arginine:glycine amidinotransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism)
  • Cerebral creatine deficiency syndrome 3, 612718
  • arginine:glycine amidinotransferase deficiency
Green Green List (high evidence)
GBA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Gaucher disease (Sphingolipidoses)
  • Gaucher disease
  • Gaucher disease, type I, 230800
  • Gaucher disease, type II, 230900
  • Gaucher disease, type III, 231000
  • Gaucher disease, type IIIC, 231005
  • Gaucher disease, perinatal lethal, 608013
Green Green List (high evidence)
GBE1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Glycogen storage disease type IV, Andersen (Glycogen storage disorders)
  • failure to thrive in addition to hepatomegaly van have neuromuscular adult form ( polyglucosan body ideas which presents with neurogenic bladder, gait difficulties
  • Glycogen storage disease IV, 232500
  • Polyglucosan body disease, adult form, 263570
  • Glycogen Storage Disease Type IV
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disorders- Muscle
  • Glycogen Storage Disease
Green Green List (high evidence)
GCDH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Glutaricaciduria, type I 231670
Green Green List (high evidence)
GCH1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia 128230
  • Hyperphenylalaninemia, BH4-deficient, B 233910
Green Green List (high evidence)
GCLC
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Gamma-glutamylcysteine synthetase deficiency (Disorders of the gamma-glutamyl cycle)
  • Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency 230450
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, axonal, type 2K
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis
  • Charcot-Marie-Tooth disease, recessive intermediate, A
  • Charcot-Marie-Tooth disease, type 4A
Green Green List (high evidence)
GFER
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • 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
Green Green List (high evidence)
GFM1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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 1, 609060
Green Green List (high evidence)
GFPT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Congenital myasthenic sydrome (Disorders of protein N-glycosylation)
  • Myasthenia, congenital, 12, with tubular aggregates(Disorders of protein N-glycosylation) 610542
Green Green List (high evidence)
GIF
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
Phenotypes
  • Intrinsic factor deficiency 261000
Green Green List (high evidence)
GLA
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Fabry disease (Sphingolipidoses)
  • Fabry disease, 301500
  • Fabry disease, cardiac variant, 301500
  • Fabry Disease
Green Green List (high evidence)
GLB1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • MPS IVB, Morquio B disease (MPS IV, Morquio disease)
  • GM1-gangliosidosis (Sphingolipidoses)
  • GM1-gangliosidosis, type I, 230500
  • GM1-gangliosidosis, type II, 230600
  • GM1-gangliosidosis, type III, 230650
  • Mucopolysaccharidosis type IVB (Morquio), 253010
  • Mucopolysaccharidosis, Type IV
  • Mucopolysaccharidosis Type IVB
  • MUCOPOLYSACCHARIDOSIS TYPE 4B
Green Green List (high evidence)
GLDC
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Glycine encephalopathy 605899
Green Green List (high evidence)
GLRA1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert Review Green
  • UKGTN
Phenotypes
  • Hyperekplexia, hereditary 1, autosomal dominant or recessive 149400
Green Green List (high evidence)
GLRX5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of iron homeostasis
  • Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950
Green Green List (high evidence)
GLUD1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Hyperinsulinemic hypoglycemia and hyperammonemia (Urea cycle disorders and inherited hyperammonaemias)
  • Hyperinsulinism-hyperammonemia syndrome, 606762
Green Green List (high evidence)
GLYCTK
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • D-glyceric aciduria (Disorders of serine, glycine or glycerate metabolism)
  • D-glyceric aciduria 220120
Tags
  • treatable
Green Green List (high evidence)
GM2A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • GM2-gangliosidosis, AB variant 272750
Green Green List (high evidence)
GMPPB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14
Green Green List (high evidence)
GNE
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • UDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
  • Sialuria (Other lysosomal disorders)
  • Nonaka myopathy 605820
  • ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Green Green List (high evidence)
GNPAT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Rhizomelic chondrodysplasia punctata type 2 (Peroxisomal disorders)
  • Rhizomelic chondrodysplasia punctata, type 2 222765
Green Green List (high evidence)
GNPTAB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mucolipidosis II, I-cell disease (Other lysosomal disorders)
  • Mucolipidosis, Type II
  • Mucolipidosis, Type III Alpha/Beta
  • Mucolipidosis II alpha/beta
  • Mucolipidosis III alpha/beta
Green Green List (high evidence)
GNPTG
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mucolipidosis III, Pseudo-Hurler polydystrophy (Other lysosomal disorders)
  • Mucolipidosis, Type III Gamma
  • Mucolipidosis III gamma
  • mucolipidpsis type III complementation group C
Green Green List (high evidence)
GNS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • MPS IIID, Sanfilippo D disease (Mucopolysaccharidoses)
  • Mucopolysaccharidosis type IIID, 252940
  • Mucopolysaccharidosis, Type III
  • Mucopolysaccharidosis Type IIID
  • Mucopolysaccharidosis Type III
Green Green List (high evidence)
GPD1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypertriglyceridemia, transient infantile, 614480
Green Green List (high evidence)
GPHN
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mo cofactor deficiency, complementation group C (Disorders of molybdenum cofactor metabolism)
  • epileptic encephalopathy
  • Molybdenum cofactor deficiency C 615501
Tags
  • deletions
  • treatable
Green Green List (high evidence)
GRHPR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Primary hyperoxaluria type II (Disorders of glyoxylate metabolism)
  • Hyperoxaluria, primary, type II
Green Green List (high evidence)
GSS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Glutathione synthetase deficiency (Disorders of the gamma-glutamyl cycle)
  • Glutathione synthetase deficiency with 5-oxoprolinuria
  • Glutathione synthetase deficiency without 5-oxoprolinuria
  • Glutathione synthetase (GSS) deficiency
  • Pyroglutamic aciduria
  • 5-oxoprolinuria
  • Fanconi nephropathy
  • Glutathione synthetase deficiency 266130
  • Hemolytic anemia due to glutathione synthetase deficiency 231900
Tags
  • treatable
Green Green List (high evidence)
GTPBP3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis and encephalopathy
  • Combined oxidative phosphorylation deficiency 23
Green Green List (high evidence)
GUSB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • MPS VII, Sly disease (MPS IV, Morquio disease)
  • Mucopolysaccharidosis VII, 253220
  • Mucopolysaccharidosis, Type VII
  • Mucopolysaccharidosis Type VII
  • MUCOPOLYSACCHARIDOSIS TYPE 7
Green Green List (high evidence)
GYG1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • ?Glycogen storage disease XV 613507
  • Polyglucosan body myopathy 2 616199
Green Green List (high evidence)
GYS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Glycogen storage disease 0, muscle 611556
Green Green List (high evidence)
GYS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Glycogen storage disease type 0a, liver (Glycogen storage disorders)
  • fasting intolerance without enlarged liver
  • Glycogen storage disease, type 0, 240600
  • Glycogen Storage Disease Type 0, Liver
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disease
Green Green List (high evidence)
HAAO
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Multiple congenital malformations
  • VACTERL-like phenotype
Tags
  • treatable
Green Green List (high evidence)
HADHA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation)
  • Trifunctional protein deficiency 609015
Green Green List (high evidence)
HADHB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation)
  • Trifunctional protein deficiency 609015
Green Green List (high evidence)
HAMP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary haemochromatosis Type 2 (Disorder of iron metabolism)
  • Hemochromatosis, type 2B 613313
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
  • Literature
Phenotypes
  • Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Microphthalmia, syndromic 7, 309801
  • Linear skin defects with multiple congenital anomalies 1
Green Green List (high evidence)
HCFC1
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) 309541
Green Green List (high evidence)
HEXA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • GM2-gangliosidosis, several forms 272800
  • Tay-Sachs disease 272800
  • [Hex A pseudodeficiency] 272800
Green Green List (high evidence)
HEXB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Literature
Phenotypes
  • Sandhoff disease, infantile, juvenile, and adult forms 268800
Green Green List (high evidence)
HFE
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Hereditary haemochromatosis Type 1 (Disorder of iron metabolism)
  • Hemochromatosis, 235200
Green Green List (high evidence)
HFE2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary haemochromatosis Type 2 (Disorder of iron metabolism)
  • Hemochromatosis, type 2A, 602390
Tags
  • new-gene-name
Green Green List (high evidence)
HGD
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
Phenotypes
  • Alkaptonuria 203500
Green Green List (high evidence)
HGSNAT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses)
  • Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930
  • Mucopolysaccharidosis, Type III
  • Mucopolysaccharidosis Type IIIC
  • Mucopolysaccharidosis Type III
  • Retinitis Pigmentosa 73
Green Green List (high evidence)
HIBCH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Methacrylic aciduria (Organic acidurias)
  • 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620
  • HIBCH deficiency
Green Green List (high evidence)
HLCS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Holocarboxylase synthetase deficiency (Disorders of biotin metabolism)
  • lactic acidosis with seizures and eczema, immune deficiency
  • Holocarboxylase synthetase deficiency
  • Holocarboxylase synthetase deficiency, 253270
Green Green List (high evidence)
HMBS
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Acute intermittent porphyria (Acute neuropathic porphyrias)
  • Porphyria, acute intermittent, 176000
  • Porphyria, acute intermittent, nonerythroid variant, 176000
Green Green List (high evidence)
HMGCL
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 3-Hydroxy-3-methyl glutaric aciduria (Organic acidurias)
Green Green List (high evidence)
HMGCS2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
Phenotypes
  • HMG-CoA synthase-2 deficiency 605911
Green Green List (high evidence)
HOGA1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hyperoxaluria Type III (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Hyperoxaluria, primary, type III 613616
Green Green List (high evidence)
HPRT1
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • HPRT-related gout 300323
  • Lesch-Nyhan syndrome 300322
Green Green List (high evidence)
HSD17B4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peroxisomal D-bifunctional protein deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation)
  • D-bifunctional protein deficiency, 261515
Green Green List (high evidence)
HSD3B7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 3- ?-hydroxysterol ?5-oxidoreductase/isomerase deficiency (Disorders of bile acid biosynthesis)
  • Bile acid synthesis defect, congenital, 1, 607765
Tags
  • treatable
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
  • Literature
Phenotypes
  • Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Spastic paraplegia 13, autosomal dominant, 605280
  • Leukodystrophy, hypomyelinating, 4, 612233
Green Green List (high evidence)
HTRA2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 3-methylglutaconic aciduria, type VIII 617248
Green Green List (high evidence)
HYAL1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
  • Literature
Phenotypes
  • MPS IX, Natowicz (MPS IV, Morquio disease)
  • ?Mucopolysaccharidosis type IX, 601492
Green Green List (high evidence)
IARS2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
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
Green Green List (high evidence)
IDH2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias)
  • D-2-hydroxyglutaric aciduria 2, 613657
Tags
  • mosaicism
Green Green List (high evidence)
IDS
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • MPS II, Hunter disease (Mucopolysaccharidoses)
  • Mucopolysaccharidosis II, 309900
  • Mucopolysaccharidosis Type II
  • MUCOPOLYSACCHARIDOSIS TYPE 2
Green Green List (high evidence)
IDUA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • MPS I, Hurler, Scheie disease (Mucopolysaccharidoses)
  • Mucopolysaccharidosis Ih, 607014
  • Mucopolysaccharidosis type 1H
  • Mucopolysaccharidosis type 1S
  • Mucopolysaccharidosis Is, 607016
  • Mucopolysaccharidosis type 1H/S
  • Mucopolysaccharidosis Ih/s, 607015
  • Mucopolysaccharidosis, Type I
  • Hurler syndrome
  • Hurler-Scheie syndrome
  • Scheie syndrome
Green Green List (high evidence)
ISPD
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Green Green List (high evidence)
ITPA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Inosine triphosphatase deficiency (Disorders of purine metabolism)
  • Epileptic encephalopathy, early infantile, 35, 616647
  • [Inosine triphosphatase deficiency], 613850
Green Green List (high evidence)
IVD
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Isovaleric aciduria (Organic acidurias)
  • metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections.
  • Isovaleric acidemia
Green Green List (high evidence)
KARS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 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)
  • Charcot-Marie-Tooth disease, recessive intermediate, B, 613641
  • Deafness, autosomal recessive 89, 613916
Green Green List (high evidence)
KYNU
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism)
  • ?Hydroxykynureninuria, 236800
  • multiple congenital malformations
  • VACTERL-like phenotype
Tags
  • treatable
Green Green List (high evidence)
L2HGDH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
Phenotypes
  • L-2-hydroxyglutaric aciduria 236792
Green Green List (high evidence)
LAMP2
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
  • Emory Genetics Laboratory
  • Literature
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Danon disease 300257
Green Green List (high evidence)
LARS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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 4, 615300
  • Perrault syndrome
Green Green List (high evidence)
LCAT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lecithin cholesterol acyltransferase deficiency (Disorders of high density lipoprotein metabolism)
  • Norum disease/LCAT deficiency, 245900
  • Fish-eye disease, 136120
Green Green List (high evidence)
LCT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lactose intolerance (Other carbohydrate disorders)
  • Lactase deficiency, congenital, 223000
Green Green List (high evidence)
LDHA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Muscle LDH deficiency (Glycogen storage disorders)
  • Glycogen Storage Disease
  • Glycogen storage disease XI, 612933
Green Green List (high evidence)
LIAS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462
Green Green List (high evidence)
LIPA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Cholesteryl ester storage disease 278000
  • Wolman disease 278000
Green Green List (high evidence)
LIPT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Lipoyltransferase 1 deficiency
Green Green List (high evidence)
LMBRD1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Literature
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblF type 277380
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)
Green Green List (high evidence)
LPIN1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Myoglobinuria, acute recurrent, autosomal recessive 268200
Green Green List (high evidence)
LPL
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Familial lipoprotein lipase deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias)
  • Lipoprotein lipase deficiency, 238600
  • Combined hyperlipidemia, familial, 144250
Green Green List (high evidence)
LRPPRC
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Isolated complex IV deficiency
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Leigh syndrome, French-Canadian type, 220111
  • Mitochondrial Diseases
Green Green List (high evidence)
MAN1B1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • MAN1B1-CDG (Disorders of protein N-glycosylation)
  • Mental retardation, autosomal recessive 15 614202
  • MAN1B1-CDG (Disorders of protein N-glycosylation)
Green Green List (high evidence)
MAN2B1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mannosidosis, alpha-, types I and II 248500
Green Green List (high evidence)
MARS2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Spastic Ataxia 13, autosomal recessive, 611390
  • ?Combined oxidative phosphorylation deficiency 25
Tags
  • missense
Green Green List (high evidence)
MAT1A
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency 250850
  • Methionine adenosyltransferase deficiency, autosomal recessive 250850
Green Green List (high evidence)
MCCC1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • 3-Methylcrotonyl-CoA carboxylase 1 deficiency 210200
Green Green List (high evidence)
MCCC2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • 3-Methylcrotonyl-CoA carboxylase 2 deficiency 210210
Green Green List (high evidence)
MCEE
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Methylmalonyl-CoA epimerase deficiency (Organic acidurias)
  • metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections
  • Methylmalonyl-CoA epimerase deficiency
Green Green List (high evidence)
MCOLN1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Mucolipidosis IV (Other lysosomal disorders)
  • Mucolipidosis, Type IV
Green Green List (high evidence)
MFF
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086
Green Green List (high evidence)
MFN2
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of mitochondrial DNA maintenance and integrity
  • Charcot-Marie-Tooth disease, type 2A2, 609260
  • Hereditary motor and sensory neuropathy VI, 601152
Green Green List (high evidence)
MFSD8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 7 610951
  • Macular dystrophy with central cone involvement 616170
Green Green List (high evidence)
MGAT2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • N-acetylglucosaminyltransferase deficiency (Disorders of protein N-glycosylation)
  • Congenital disorder of glycosylation, type IIa 212066
  • N-acetylglucosaminyltransferase deficiency (Disorders of protein N-glycosylation)
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)
  • Disorders of mitochondrial DNA maintenance and integrity
  • Mitochondrial DNA depletion syndrome 11, 615084
Green Green List (high evidence)
MLYCD
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Malonyl-CoA decarboxylase deficiency (Organic acidurias)
  • 3.5.1. Malonyl CoA decarboxylase deficiency Other disorders of fatty acid and ketone body metabolism)
  • malonic aciduria
  • Malonyl-CoA decarboxylase deficiency
Green Green List (high evidence)
MMAA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Defect in adenosylcobalamin synthesis-cbl A (Disorders of cobalamin absorption, transport and metabolism)
  • Methylmalonic aciduria, vitamin B12-responsive 251100
Green Green List (high evidence)
MMAB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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
Green Green List (high evidence)
MMACHC
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type 277400
Green Green List (high evidence)
MMADHC
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Homocystinuria, cblD type, variant 1 277410
  • Methylmalonic aciduria and homocystinuria, cblD type 277410
  • Methylmalonic aciduria, cblD type, variant 2 277410
Green Green List (high evidence)
MOGS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Literature
Phenotypes
  • MOGS-CDG (Disorders of protein N-glycosylation)
  • Congenital disorder of glycosylation, type IIb, 606056
  • (MOGS-CDG (Disorders of protein N-glycosylation))
Green Green List (high evidence)
MPDU1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Lec35 deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
  • Congenital disorder of glycosylation, type If 609180
  • Lec35 deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Green Green List (high evidence)
MPI
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Phosphomannose isomerase deficiency (Disorders of protein N-glycosylation)
  • Congenital disorder of glycosylation, type Ib 602579
  • Phosphomannose isomerase deficiency (Disorders of protein N-glycosylation)
Green Green List (high evidence)
MPV17
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of mitochondrial DNA maintenance and integrity
  • Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 -3
  • Mitochondrial DNA Depletion Syndrome
Green Green List (high evidence)
MRPS22
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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 5, 611719
Green Green List (high evidence)
MSMO1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Sterol-C4-methyl oxidase deficiency (Disorders of sterol biosynthesis)
  • Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834
  • (SC4MOL DEFICIENCY)
Green Green List (high evidence)
MT-ATP6
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Green Green List (high evidence)
MT-ATP8
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
  • CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY
  • BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO
Green Green List (high evidence)
MT-CO1
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • LEBER OPTIC ATROPHY
  • SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC
  • CYTOCHROME c OXIDASE DEFICIENCY
  • MYOGLOBINURIA, RECURRENT
  • CYTOCHROME c OXIDASE I DEFICIENCY
Green Green List (high evidence)
MT-CO2
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • CYTOCHROME c OXIDASE DEFICIENCY
Green Green List (high evidence)
MT-CO3
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Green Green List (high evidence)
MT-CYB
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • LEBER OPTIC ATROPHY
  • ENCEPHALOMYOPATHY, MITOCHONDRIAL
  • MULTISYSTEM DISORDER
  • EXERCISE INTOLERANCE
  • CARDIOMYOPATHY, INFANTILE HISTIOCYTOID
  • EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA
  • PARKINSONISM/MELAS OVERLAP SYNDROME
Green Green List (high evidence)
MT-ND1
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • LEBER OPTIC ATROPHY
  • SUDDEN INFANT DEATH SYNDROME
  • MITOCHONDRIAL COMPLEX I DEFICIENCY
  • DYSTONIA, ADULT-ONSET
  • MELAS SYNDROME
  • DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
Green Green List (high evidence)
MT-ND2
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • LEBER OPTIC ATROPHY
  • MITOCHONDRIAL COMPLEX I DEFICIENCY
  • LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
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
Green Green List (high evidence)
MT-ND4
1 review
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • LEBER OPTIC ATROPHY
  • MELAS SYNDROME
  • LEBER OPTIC ATROPHY AND DYSTONIA
  • MITOCHONDRIAL COMPLEX I DEFICIENCY
Tags
  • gene-therapy-trial
Green Green List (high evidence)
MT-ND4L
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • LEBER OPTIC ATROPHY
Green Green List (high evidence)
MT-ND5
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • LEBER OPTIC ATROPHY
  • LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
  • MELAS SYNDROME
  • MERRF SYNDROME
Green Green List (high evidence)
MT-ND6
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • LEBER OPTIC ATROPHY
  • LEBER OPTIC ATROPHY AND DYSTONIA
  • LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
  • MELAS SYNDROME
  • STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA
Green Green List (high evidence)
MT-RNR1
1 review
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • DEAFNESS, AMINOGLYCOSIDE-INDUCED
  • DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
  • CARDIOMYOPATHY, RESTRICTIVE
  • AUDITORY NEUROPATHY
Tags
  • locus-type-rna-ribosomal
Green Green List (high evidence)
MT-TA
1 review
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • MYOTONIC DYSTROPHY-LIKE MYOPATHY
  • MITOCHONDRIAL MYOPATHY
Tags
  • locus-type-rna-transfer
Green Green List (high evidence)
MT-TC
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • MELAS SYNDROME
  • DYSTONIA, MITOCHONDRIAL
Green Green List (high evidence)
MT-TD
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • MITOCHONDRIAL MYOPATHY, ISOLATED
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
Green Green List (high evidence)
MT-TF
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Green Green List (high evidence)
MT-TG
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Green Green List (high evidence)
MT-TH
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Green Green List (high evidence)
MT-TI
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Green Green List (high evidence)
MT-TK
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Green Green List (high evidence)
MT-TL1
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Green Green List (high evidence)
MT-TL2
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Green Green List (high evidence)
MT-TM
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Green Green List (high evidence)
MT-TN
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Green Green List (high evidence)
MT-TP
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Green Green List (high evidence)
MT-TQ
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Green Green List (high evidence)
MT-TR
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Green Green List (high evidence)
MT-TS1
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Green Green List (high evidence)
MT-TS2
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Green Green List (high evidence)
MT-TV
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Green Green List (high evidence)
MT-TW
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Green Green List (high evidence)
MT-TY
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Green Green List (high evidence)
MTHFR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Methylenetetrahydrofolate reductase deficiency (Disorders of folate metabolism and transport)
  • Homocystinuria due to MTHFR deficiency
Green Green List (high evidence)
MTO1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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 10, 614702
  • infantile hypertrophic cardiomyopathy and lactic acidosis.
Green Green List (high evidence)
MTR
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Homocystinuria-megaloblastic anemia, cblG complementation type 250940
  • {Neural tube defects, folate-sensitive, susceptibility to} 601634
Green Green List (high evidence)
MTRR
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Homocystinuria-megaloblastic anemia, cbl E type 236270
  • {Neural tube defects, folate-sensitive, susceptibility to} 601634
Green Green List (high evidence)
MTTP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Familial abetalipoproteinaemia (Inherited hypolipidaemias)
  • Abetalipoproteinemia, 200100
  • (ACANTHOCYTOSIS, BASSEN-KORNZWEIG SYNDROME, MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY, MTP DEFICIENCY)
Green Green List (high evidence)
MUT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Methylmalonyl-CoA mutase deficiency (Organic acidurias)
  • metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections.
  • Methylmalonic aciduria, mut(0) type 251000
Green Green List (high evidence)
NAGA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Kanzaki disease 609242
  • Schindler disease, type I 609241
  • Schindler disease, type III 609241
Green Green List (high evidence)
NAGLU
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses)
  • Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920
  • Mucopolysaccharidosis, Type III
  • Mucopolysaccharidosis Type IIIB
  • Mucopolysaccharidosis Type III
  • MUCOPOLYSACCHARIDOSIS TYPE 3B
Green Green List (high evidence)
NAGS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • N-Acetylglutamate synthetase deficiency (Urea cycle disorders and inherited hyperammonaemias)
  • N-acetylglutamate synthase deficiency
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
Green Green List (high evidence)
NDUFA1
0 reviews
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Isolated complex I deficiency
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
Green Green List (high evidence)
NDUFA10
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Isolated complex I deficiency
  • Leigh syndrome, 256000
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Green Green List (high evidence)
NDUFA11
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Isolated complex I deficiency
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Green Green List (high evidence)
NDUFA2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Isolated complex I deficiency
  • Leigh syndrome due to mitochondrial complex I deficiency, 256000
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Green Green List (high evidence)
NDUFAF1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Isolated complex I deficiency
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Green Green List (high evidence)
NDUFAF2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Isolated complex I deficiency
  • Mitochondrial complex I deficiency, 252010
  • Leigh syndrome, 256000
  • Mitochondrial Respiratory Chain Complex I Deficiency
Green Green List (high evidence)
NDUFAF3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Isolated complex I deficiency
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Green Green List (high evidence)
NDUFAF4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Isolated complex I deficiency
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Green Green List (high evidence)
NDUFAF5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Isolated complex I deficiency
  • Mitochondrial complex 1 deficiency, 252010
  • Mitochondrial Diseases
Green Green List (high evidence)
NDUFAF6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
Phenotypes
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Leigh syndrome due to mitochondrial complex I deficiency, 256000
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
  • Isolated complex I deficiency
  • Linear skin defects with multiple congenital anomalies 3
  • histiocytoid cardiomyopathy
  • microphthalmia with linear skin defects syndrome
Green Green List (high evidence)
NDUFB3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Isolated complex I deficiency
  • Mitochondrial complex I deficiency, 252010
Green Green List (high evidence)
NDUFS1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Isolated complex I deficiency
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Green Green List (high evidence)
NDUFS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Isolated complex I deficiency
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Green Green List (high evidence)
NDUFS3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Isolated complex I deficiency
  • Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Green Green List (high evidence)
NDUFS4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Isolated complex I deficiency
  • Leigh syndrome, 256000Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Green Green List (high evidence)
NDUFS6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Isolated complex I deficiency
  • Complex I, mitochondrial respiratory chain, deficiency of, 252010
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Green Green List (high evidence)
NDUFS7
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Isolated complex I deficiency
  • Leigh syndrome, 256000
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Green Green List (high evidence)
NDUFS8
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Isolated complex I deficiency
  • Leigh syndrome due to mitochondrial complex I deficiency, 256000
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Green Green List (high evidence)
NDUFV1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Isolated complex I deficiency
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Green Green List (high evidence)
NDUFV2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Isolated complex I deficiency
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Respiratory Chain Complex I Deficiency
Green Green List (high evidence)
NEU1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Sialidosis (Oligosaccharidoses)
  • Sialidosis
  • Sialidosis, type I
  • Sialidosis type II
  • Mucolipidosis, Type I
Green Green List (high evidence)
NFU1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Multiple mitochondrial dysfunctions syndrome 1
Green Green List (high evidence)
NGLY1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Alacrimia-choreoathetosis-liver dysfunction syndrome
  • OrphaNet: ORPHA404454
  • OMIM:615273
Green Green List (high evidence)
NHLRC1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Epilepsy, progressive myoclonic 2B (Lafora) 254780
Green Green List (high evidence)
NPC1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Niemann-Pick disease, type C1 257220
  • Niemann-Pick disease, type D 257220
Green Green List (high evidence)
NPC2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Niemann-pick disease, type C2 607625
Green Green List (high evidence)
NSDHL
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Congenital hemidysplasia with ichtyosiform erythroderma and limb defects (Disorders of sterol biosynthesis)
  • CHILD syndrome 308050 XLD
  • CK syndrome 300831 XLR
Green Green List (high evidence)
NT5C3A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Literature
Phenotypes
  • Uridine-5 -monophosphate hydrolase superactivity (Disorders of pyrimidine metabolism)
  • Anemia, hemolytic, due to UMPH1 deficiency, 266120
Green Green List (high evidence)
NUBPL
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Isolated complex I deficiency
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Green Green List (high evidence)
OAT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ornithine aminotransferase deficiency (Disorders of ornithine or proline metabolism)
  • Gyrate atrophy of choroid and retina with or without ornithinemia
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
  • Literature
Phenotypes
  • Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of mitochondrial DNA maintenance and integrity
  • Optic atrophy 1, 165500
  • {Glaucoma, normal tension, susceptibility to}, 606657
  • Optic atrophy plus syndrome, 125250
  • Mitochondrial DNA Depletion Syndrome
  • Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
Green Green List (high evidence)
OPA3
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Methylglutaconic aciduria type III, Costeff syndrome (Organic acidurias)
  • 3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300
Green Green List (high evidence)
OTC
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
  • Literature
Phenotypes
  • Ornithine transcarbamylase deficiency (Urea cycle disorders and inherited hyperammonaemias)
  • Ornithine transcarbamylase deficiency, 311250
Tags
  • gene-therapy-trial
Green Green List (high evidence)
OXCT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 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))
  • severe ketosis on fasting often ketotic in fed state no hepatomegaly
  • Succinyl CoA:3-oxoacid CoA transferase deficiency
Green Green List (high evidence)
PAH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Phenylketonuria 261600
  • [Hyperphenylalaninemia, non-PKU mild] 261600
Green Green List (high evidence)
PC
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Pyruvate carboxylase deficiency (Disorders of gluconeogenesis)
  • lactic acidosis, hypotonia, encephalopathy
  • Pyruvate carboxylase deficiency 266150
  • Pyruvate carboxylase deficiency
Green Green List (high evidence)
PCBD1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, D 264070
Green Green List (high evidence)
PCCA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Propionic aciduria (Organic acidurias)
  • metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections
  • Propionicacidemia
  • Propionic acidemia
  • Propionicacidemia 606054
Green Green List (high evidence)
PCCB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Propionic aciduria (Organic acidurias)
  • as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections)
  • Propionicacidemia
  • Propionic acidemia
  • Propionicacidemia 606054
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
  • Literature
Phenotypes
  • Pyruvate dehydrogenase E1? subunit deficiency (Disorders of pyruvate metabolism)
  • Pyruvate dehydrogenase E1-alpha deficiency, 312170
  • Leigh syndrome, X-linked, 308930
Green Green List (high evidence)
PDHB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Pyruvate dehydrogenase E1? subunit deficiency (Disorders of pyruvate metabolism)
  • Pyruvate dehydrogenase E1-beta deficiency, 614111
Green Green List (high evidence)
PDHX
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Pyruvate dehydrogenase E3 binding protein deficiency (Disorders of pyruvate metabolism)
  • Lacticacidemia due to PDX1 deficiency
Green Green List (high evidence)
PDP1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism)
  • Pyruvate dehydrogenase phosphatase deficiency, 608782
Green Green List (high evidence)
PDSS1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of ubiquinone metabolism and biosynthesis
  • Coenzyme Q10 deficiency, primary, 2, 614651
Green Green List (high evidence)
PDSS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of ubiquinone metabolism and biosynthesis
  • Coenzyme Q10 deficiency, primary, 3, 614652
Green Green List (high evidence)
PET100
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Isolated complex IV deficiency
  • Mitochondrial complex IV deficiency, 220110
  • Leigh syndrome
Green Green List (high evidence)
PEX1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 1A (Zellweger) 214100
  • Peroxisome biogenesis disorder 1B (NALD/IRD) 601539
Green Green List (high evidence)
PEX10
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 6A (Zellweger) 614870
  • Peroxisome biogenesis disorder 6B 614871
Green Green List (high evidence)
PEX11B
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peroxisome biogenesis disorder 14B
Green Green List (high evidence)
PEX12
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 3A (Zellweger), 614859
  • Peroxisome biogenesis disorder 3B
Green Green List (high evidence)
PEX13
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 11A (Zellweger)
Green Green List (high evidence)
PEX14
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 13A (Zellweger)
Green Green List (high evidence)
PEX16
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 8A, (Zellweger), 614876
  • Zellweger Syndrome
  • Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
  • Peroxisomal biogenesis disorders
Green Green List (high evidence)
PEX19
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 12A (Zellweger)
Green Green List (high evidence)
PEX2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 5A (Zellweger), 614866
  • Peroxisome biogenesis disorder 5B, 614867
Green Green List (high evidence)
PEX26
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 7A (Zellweger) 61487
  • Peroxisome biogenesis disorder 7B 614873
Green Green List (high evidence)
PEX3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 10A (Zellweger) 614882
Green Green List (high evidence)
PEX5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 2A (Zellweger)
Green Green List (high evidence)
PEX6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 4A (Zellweger) 614862
  • Peroxisome biogenesis disorder 4B 614863
Green Green List (high evidence)
PEX7
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Rhizomelic chondrodysplasia punctata type 1 (Peroxisomal disorders)
  • Peroxisome biogenesis disorder 9B 614879
  • Rhizomelic chondrodysplasia punctata, type 1
Green Green List (high evidence)
PFKM
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Glycogen storage disease VII 232800
Green Green List (high evidence)
PGAP2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • PGAP2-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
  • Hyperphosphatasia with mental retardation syndrome 3 614207
  • PGAP2-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Green Green List (high evidence)
PGAP3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hyperphosphatasia with mental retardation syndrome 4
Green Green List (high evidence)
PGK1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Phosphoglycerate kinase 1 deficiency 300653
Green Green List (high evidence)
PGM1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Glycogen storage disease type XIV (Glycogen storage disorders)
  • Glycogen storage disease XIV, 612934
  • Congenital disorder of glycosylation, type It, 614921
  • Glycogen Storage Disease Type XIV
  • Glycogen Storage Disorders- Muscle
  • Glycogen Storage Disease
  • Congenital disorder of deglycosylation 615273
Green Green List (high evidence)
PGM3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Immunodeficiency 23
Green Green List (high evidence)
PHKA1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
  • Expert Review Green
  • UKGTN
Phenotypes
  • Muscle glycogenosis 300559
Green Green List (high evidence)
PHKA2
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency (Glycogen storage disorders)
  • hepatomegaly and mild hypoglycaemia
  • Glycogen storage disease, type IXa1, 306000
  • Glycogen storage disease, type IXa2, 306000
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disease
Green Green List (high evidence)
PHKB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Glycogen storage disease type IX Hepatic and muscle phosphorylase kinase deficiency (Glycogen storage disorders)
  • hepatomegaly and variable myopathy
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disorders- Muscle
  • Glycogen Storage Disease
Green Green List (high evidence)
PHKG2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency with cirrhosis (Glycogen storage disorders)
  • hepatomegaly and variable myopathy
  • Glycogen storage disease IXc, 613027
  • Cirrhosis due to liver phosphorylase kinase deficiency
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disease
Green Green List (high evidence)
PHYH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Refsum disease (Disorders of peroxisomal alpha-, beta and omega-oxidation)
  • Refsum disease, 266500
Green Green List (high evidence)
PIGA
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • PIGA-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
  • Multiple congenital anomalies-hypotonia-seizures syndrome 2 300868
Green Green List (high evidence)
PIGL
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • PIGL-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
  • CHIME syndrome 280000
  • PIGL-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Green Green List (high evidence)
PIGN
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • PIGN-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
  • Multiple congenital anomalies-hypotonia-seizures syndrome 1
Green Green List (high evidence)
PIGO
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hyperphosphatasia (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
  • Hyperphosphatasia with mental retardation syndrome 2 614749
  • (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Green Green List (high evidence)
PIGT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398
Green Green List (high evidence)
PIGV
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hyperphosphatasia (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
  • Hyperphosphatasia with mental retardation syndrome 1 239300
  • (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Green Green List (high evidence)
PLA2G6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Infantile neuroaxonal dystrophy 1 256600
  • Neurodegeneration with brain iron accumulation 2B 610217
  • Parkinson disease 14, autosomal recessive 612953
Green Green List (high evidence)
PMM2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Phosphomannomutase 2 deficiency (Disorders of protein N-glycosylation)
  • Congenital disorder of glycosylation, type Ia 212065
  • Phosphomannomutase 2 deficiency (Disorders of protein N-glycosylation)
Green Green List (high evidence)
PMPCA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • non-progressive cerebellar ataxia
  • slowly progressive cerebellar ataxia
Green Green List (high evidence)
PNPO
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Pyridoxamine 5 -oxidase deficiency (Disorders of pyridoxine metabolism)
Green Green List (high evidence)
PNPT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 13, 614932
  • Deafness, autosomal recessive 70, 614934
  • respiratory chain disorder
  • hearing loss
Green Green List (high evidence)
POLG
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Mitochondrial DNA depletion syndrome 4A (Alpers type)
  • Progressive external ophthalmoplegia, autosomal recessive, 258450
  • Progressive external ophthalmoplegia, autosomal dominant, 157640
  • Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662
  • Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700
  • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459
  • Mitochondrial DNA Depletion Syndrome
  • Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
Green Green List (high evidence)
POLG2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of mitochondrial DNA maintenance and integrity
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4,610131
  • Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
Green Green List (high evidence)
POMGNT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Protein-O-mannose beta-1,2-N-acetyglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 3 613157
  • Retinitis pigmentosa 76 617123
  • Protein-O-mannose beta-1,2-N-acetyglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Green Green List (high evidence)
POMGNT2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8
Green Green List (high evidence)
POMT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 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
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308
  • Protein-O-mannosyltransferase 1 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Green Green List (high evidence)
POMT2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Protein-O-mannosyltransferase 2 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
  • 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)
Green Green List (high evidence)
PPA2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Green Green List (high evidence)
PPOX
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Variegate porphyria (Acute neuropathic porphyrias)
  • Porphyria variegata 176200
Green Green List (high evidence)
PPT1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 1 256730
Green Green List (high evidence)
PRKAG2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Cardiomyopathy, hypertrophic 6 600858
  • Glycogen storage disease of heart, lethal congenital 261740
  • Wolff-Parkinson-White syndrome 194200
Green Green List (high evidence)
PRODH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hyperprolinaemia type I (Disorders of ornithine or proline metabolism)
  • Hyperprolinemia, type I 239500
Green Green List (high evidence)
PSAP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Prosaposin deficiency (Sphingolipidoses)
  • Metachromatic leukodystrophy due to SAP-b deficiency, 249900
  • Gaucher disease, atypical, 610539
  • Combined SAP deficiency, 611721
  • Krabbe disease, atypical, 611722
  • Atypical Gaucher disease
  • Atypical Krabbe disease
  • Combined SAP deficiency
Green Green List (high evidence)
PUS1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Green Green List (high evidence)
PYCR1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cutis laxa, autosomal recessive, type IIb/IIIb (Disorders of ornithine or proline metabolism)
  • Cutis laxa, autosomal recessive, type IIB, 612940
  • Cutis laxa, autosomal recessive, type IIIB, 614438
Green Green List (high evidence)
PYGL
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Glycogen storage disease type VI, Hers (Glycogen storage disorders)
  • hepatomegaly and mild hypoglycaemia
  • Glycogen storage disease VI, 232700
  • Glycogen Storage Disease Type VI
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disease
Green Green List (high evidence)
PYGM
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Glycogen storage disease type V, McArdle (Glycogen storage disorders)
  • McArdle disease 232600
Green Green List (high evidence)
QDPR
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
  • Expert Review Green
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, C 261630
Green Green List (high evidence)
RANBP2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Acute necrotizing encephalopathy (Other metabolic disorders)
Tags
  • treatable
Green Green List (high evidence)
RARS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Pontocerebellar hypoplasia, type 6, 611523
Green Green List (high evidence)
RBCK1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
Phenotypes
  • Polyglucosan body myopathy 1 with or without immunodeficiency 615895
Green Green List (high evidence)
RFT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Flippase of Man5GlcNAc2-PP-Dol deficiency (Disorders of protein N-glycosylation)
  • Congenital disorder of glycosylation, type In 612015
  • Flippase of Man5GlcNAc2-PP-Dol deficiency (Disorders of protein N-glycosylation)
Green Green List (high evidence)
RMND1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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
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
Green Green List (high evidence)
RPL10
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mental retardation, X-linked, syndromic, 35 300998
Green Green List (high evidence)
RRM2B
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Mitochondrial Ribonucelotide Reductase subunit 2 deficiency (Disorders of purine metabolism)
  • Disorders of mitochondrial DNA maintenance and integrity
  • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions (autosomal dominant)
  • 5,613077Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075
  • Mitochondrial DNA Depletion Syndrome (recessive)
Green Green List (high evidence)
SACS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
  • Spastic ataxia, Charlevoix-Saguenay type
Green Green List (high evidence)
SAMHD1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS5
  • Aicardi-Goutieres syndrome-5 (AGS5)
Green Green List (high evidence)
SAR1B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Anderson disease (Inherited hypolipidaemias)
  • CHYLOMICRON RETENTION DISEASE 246700
Tags
  • treatable
Green Green List (high evidence)
SARS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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
Green Green List (high evidence)
SCO1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Isolated complex IV deficiency
  • Hepatic failure, early onset, and neurologic disorder
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex IV Deficiency
Green Green List (high evidence)
SCO2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Isolated complex IV deficiency
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377Myopia 6, 608908
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex IV Deficiency
Green Green List (high evidence)
SCP2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Sterol carrier protein deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation)
Green Green List (high evidence)
SDHA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Isolated complex II deficiency
  • Leigh syndrome, 256000
  • Mitochondrial respiratory chain complex II deficiency, 252011
  • Cardiomyopathy, dilated, 1GG, 613642
  • Paragangliomas 5, 614165
  • Mitochondrial Respiratory Chain Complex II Deficiency
Green Green List (high evidence)
SDHAF1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Isolated complex II deficiency
  • Mitochondrial complex II deficiency, 252011
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex II Deficiency
Green Green List (high evidence)
SDHB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Isolated complex II deficiency
  • Paragangliomas 4, 115310
  • Pheochromocytoma, 171300
  • Paraganglioma and gastric stromal sarcoma, 606864
  • Cowden syndrome 2, 612359
  • Gastrointestinal stromal tumor, 606764
  • Mitochondrial Diseases
Green Green List (high evidence)
SDHD
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Mitochondrial Diseases
  • Isolated complex II deficiency
Green Green List (high evidence)
SEC23B
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies)
  • Dyserythropoietic anemia, congenital, type II 224100
Green Green List (high evidence)
SERAC1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Methylglutaconic aciduria with deafness, encephalopathy and Leigh-like syndrome (MEGDEL) (Organic acidurias)
  • Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739
Green Green List (high evidence)
SGSH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses)
  • Mucopolysaccharidosis, Type III
  • Mucopolysaccharidosis Type IIIA
  • Mucopolysaccharidosis Type III
  • MUCOPOLYSACCHARIDOSIS TYPE 3A
Green Green List (high evidence)
SI
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Disaccharide intolerance 1 (Other carbohydrate disorders)
  • CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY 222900
Tags
  • treatable
Green Green List (high evidence)
SLC16A1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • mainly ketosis with borderline reduction in glucose
  • Hyperinsulinemic hypoglycemia, familial, 7
Green Green List (high evidence)
SLC17A5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Salla disease 604369
  • Sialic acid storage disorder, infantile 269920
Green Green List (high evidence)
SLC19A2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Thiamine-responsive megaloblastic anemia syndrome (Disorders of thiamine metabolism)
  • Thiamine-responsive megaloblastic anemia syndrome, 249270
Green Green List (high evidence)
SLC19A3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • 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
Green Green List (high evidence)
SLC22A5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Carnitine transporter deficiency (Disorders of carnitine transport and the carnitine cycle)
  • Propionicacidemia
Green Green List (high evidence)
SLC25A1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism)
  • Combined D-2- and L-2-hydroxyglutaric aciduria, 615182
Green Green List (high evidence)
SLC25A13
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Citrullinemia Type 2 (Urea cycle disorders and inherited hyperammonaemias)
  • Citrullinemia, adult-onset type II 603471
Green Green List (high evidence)
SLC25A15
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • HHH syndrome (Urea cycle disorders and inherited hyperammonaemias)
  • Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970
Green Green List (high evidence)
SLC25A19
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Microcephaly, Amish type (Disorders of thiamine metabolism)
  • Microcephaly, Amish type, 607196
  • Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710
Green Green List (high evidence)
SLC25A20
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle)
  • Carnitine-acylcarnitine translocase deficiency 212138
Green Green List (high evidence)
SLC25A22
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Epileptic encephalopathy, early infantile, 3, 609304
Green Green List (high evidence)
SLC25A26
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 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
  • Combined oxidative phosphorylation deficiency 28
  • intra-mitochondrial methylation deficiency.
Green Green List (high evidence)
SLC25A3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism)
  • Mitochondrial phosphate carrier deficiency 610773
Green Green List (high evidence)
SLC25A38
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • nonsyndromic autosomal recessive congenital sideroblastic anemia
  • congenital sideroblastic anemias
  • severe, non-syndromic, microcytic/hypochromic sideroblastic anemia
Green Green List (high evidence)
SLC25A4
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of mitochondrial DNA maintenance and integrity
  • Disorders of mitochondrial protein transport
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418
  • Progressive External Ophthalmoplegia with Mitochondrial DNADeletions
Green Green List (high evidence)
SLC25A46
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • optic atrophy spectrum disorder
Green Green List (high evidence)
SLC2A2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Glucose transporter 2 deficiency (Disorders of glucose transport)
  • Glycogen storage disease type XI (Glycogen storage disorders)
  • renal falcon syndrome, aminoaciduria phosphaturia, small stature, malabsorption, hepatomegaly and nephromegaly.
  • Glycogen Storage Disorders- Liver
  • Fanconi-Bickel Syndrome
Green Green List (high evidence)
SLC30A10
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypermanganesemia with dystonia, polycythemia, and cirrhosis (Disorder of magnesium metabolism)
  • Early onset dystonia
  • Parkinson Disease and Complex Parkinsonism
  • Hypermanganesemia with dystonia 1 613280
Tags
  • treatable
Green Green List (high evidence)
SLC35C1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
  • Congenital disorder of glycosylation, type IIc 266265
  • GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Green Green List (high evidence)
SLC35D1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 9.2.3. O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation)
Green Green List (high evidence)
SLC37A4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Glycogen storage disease type 1b, von Gierke (Glycogen storage disorders)
  • heptomgaly, feed intolerance , inflammatory bowel disease, neutropenia
  • Glycogen storage disease Ib, 232220
  • Glycogen storage disease Ic, 232240
  • Glycogen Storage Disease Type I
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disease
  • Glycogen Storage Disease Ib and Ic
Green Green List (high evidence)
SLC39A14
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypermanganesemia with dystonia 2 617013
Tags
  • treatable
Green Green List (high evidence)
SLC39A4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Acrodermatitis enteropathica (Disorder of zinc metabolism)
  • Acrodermatitis enteropathica 201100 (Disorder of zinc metabolism)
Tags
  • treatable
Green Green List (high evidence)
SLC39A8
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypomagnesaemia with cerebellar atrophy, hypotonia, strabismus, developmental delay, short stature, mild skeletal dysplasia, and connective tissue abnormalities (Disorder of magnesium metabolism)
  • Congenital disorder of glycosylation, type IIn 616721
Green Green List (high evidence)
SLC40A1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary haemochromatosis Type 4 (Disorder of iron metabolism)
  • Hemochromatosis, type 4 606069 (Disorder of iron metabolism)
Green Green List (high evidence)
SLC46A1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary folate malabsorption (Disorders of folate metabolism and transport)
  • Folate malabsorption, hereditary
Green Green List (high evidence)
SLC52A2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Brown-Vialetto-Van Laere syndrome 2 614707
Green Green List (high evidence)
SLC52A3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
Phenotypes
  • Brown-Vialetto-Van Laere syndrome 1 211530
  • Fazio-Londe disease 211500
Green Green List (high evidence)
SLC5A1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Glucose/galactose malabsorption (Disorders of glucose transport)
  • Glucose/galactose malabsorption 606824 (Disorders of glucose transport)
Tags
  • treatable
Green Green List (high evidence)
SLC6A19
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Literature
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hartnup disorder 234500 AR
  • Hyperglycinuria 138500 AD
  • Iminoglycinuria, digenic 242600 AR
Green Green List (high evidence)
SLC6A20
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Hyperglycinuria 138500
  • Iminoglycinuria, digenic 242600
Green Green List (high evidence)
SLC7A7
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lysinuric protein intolerance (Disorders of amino acid transport)
  • Lysinuric protein intolerance 222700
Green Green List (high evidence)
SMPD1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Niemann-Pick disease, type A 257200
  • Niemann-Pick disease, type B 607616
Green Green List (high evidence)
SPG7
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of mitochondrial DNA maintenance and integrity
  • Spastic paraplegia 7, autosomal recessive, 607259
Green Green List (high evidence)
SRD5A3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • SRD5A3-CDG (Disorders of protein N-glycosylation)
  • Congenital disorder of glycosylation, type Iq 612379
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
Green Green List (high evidence)
ST3GAL5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • GM3 synthase deficiency (Disorders of complex lipid synthesis)
  • Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
  • Salt and pepper developmental regression syndrome 609056
  • Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Green Green List (high evidence)
SUCLA2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of mitochondrial DNA maintenance and integrity
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonicaciduria), 612073
  • Mitochondrial DNA Depletion Syndrome
Green Green List (high evidence)
SUCLG1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of mitochondrial DNA maintenance and integrity
  • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria),245400
  • Mitochondrial DNA Depletion Syndrome
Green Green List (high evidence)
SUMF1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Multiple sulfatase deficiency 272200
Green Green List (high evidence)
SUOX
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
  • Expert Review Green
  • UKGTN
Phenotypes
  • Sulfite oxidase deficiency 272300
Green Green List (high evidence)
SURF1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Isolated complex IV deficiency
  • Leigh syndrome, due to COX deficiency, 256000
  • Mitochondrial Diseases
  • Leigh Syndrome
  • Complex IV deficiency
Green Green List (high evidence)
TACO1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Isolated complex IV deficiency
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • ?Mitochondrial complex IV deficiency, 220110
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex IV Deficiency
Green Green List (high evidence)
TALDO1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Transaldolase deficiency 606003
Green Green List (high evidence)
TAZ
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias)
  • Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of mitochondrial lipid metabolism
  • Barth syndrome, 302060
Green Green List (high evidence)
TFR2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary haemochromatosis Type 3 (Disorder of iron metabolism)
  • Hemochromatosis, type 3 604250
Green Green List (high evidence)
TIMM8A
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of the mitochondrial import system
  • Deafness, X-linked 1, progressive
  • Mohr-Tranebjaerg syndrome, 304700
  • Jensen syndrome, 311150
Green Green List (high evidence)
TK2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Thymidine kinase 2 deficiency (Disorders of pyrimidine metabolism)
  • Disorders of mitochondrial DNA maintenance and integrity
  • Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560
  • Mitochondrial DNA Depletion Syndrome
Green Green List (high evidence)
TMEM165
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • CDG2K (other congenital disorders of glycosylation)
  • Congenital disorder of glycosylation, type IIk 614727
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 A, 10
Tags
  • new-gene-name
Green Green List (high evidence)
TMEM70
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • Isolated complex V deficiency
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
  • Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type
  • Mitochondrial Diseases
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
Green Green List (high evidence)
TPP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • CLN2, Jansky-Bielschowsky disease (Ceroid lipfuscinoses, neuronal)
  • Hereditary ataxia
  • Intellectual disability
  • Ceroid lipofuscinosis, neuronal, 2 204500
Green Green List (high evidence)
TRIM37
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mulibrey nanism (Other peroxisomal disorders)
  • Mulibrey nanism
Green Green List (high evidence)
TRMU
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • {Deafness, mitochondrial, modifier of}, 580000
  • Liver failure, transient infantile, 613070
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
Green Green List (high evidence)
TRPM6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypomagnesaemia type 1, intestinal (Disorder of magnesium metabolism)
  • Hypomagnesemia 1, intestinal 602014
Tags
  • treatable
Green Green List (high evidence)
TSFM
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Combined oxidative phosphorylation deficiency 3 610505
Green Green List (high evidence)
TTC19
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Isolated complex III deficiency
  • Mitochondrial complex III deficiency, nuclear type 2, 615157
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex III Deficiency
Green Green List (high evidence)
TUSC3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • TUSC3-CDG (Disorders of protein N-glycosylation)
  • Mental retardation, autosomal recessive 7
Green Green List (high evidence)
TYMP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Thymidine phosphorylase deficiency (Disorders of pyrimidine metabolism)
  • Disorders of mitochondrial DNA maintenance and integrity
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041
  • Mitochondrial Neurogastrointestinal Encephalopathy Disease
Green Green List (high evidence)
UGT1A1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport)
  • Crigler-Najjar syndrome, type I 218800
  • Crigler-Najjar syndrome, type II 606785
Tags
  • gene-therapy-trial
  • treatable
Green Green List (high evidence)
UMPS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Literature
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Orotic aciduria (Disorders of pyrimidine metabolism)
  • Intellectual disability
  • Orotic aciduria 258900
Green Green List (high evidence)
UQCRQ
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Isolated complex III deficiency
  • Mitochondrial complex III deficiency, nuclear type 4, 615159
  • Mitochondrial Respiratory Chain Complex III Deficiency
  • Mitochondrial Diseases
Green Green List (high evidence)
UROD
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Porphyria cutanea tarda (Porphyrias with erosive photodermatosis)
Green Green List (high evidence)
UROS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis)
  • Porphyria, congenital erythropoietic 263700
Tags
  • treatable
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
Green Green List (high evidence)
WDR45
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Neurodegeneration with brain iron accumulation 5 300894
Green Green List (high evidence)
XDH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Xanthinuria type I (Disorders of purine metabolism)
  • Xanthinuria type II (Disorders of purine metabolism)
Green Green List (high evidence)
XYLT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Desbuquois dysplasia 2
Green Green List (high evidence)
XYLT2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spondyloocular syndrome
Green Green List (high evidence)
YARS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561
Amber Amber List (moderate evidence)
ABCG5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Sitosterolaemia (Inherited hypercholesterolaemias)
  • Familial hypercholesterolaemia
Amber Amber List (moderate evidence)
ABCG8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Sitosterolaemia (Inherited hypercholesterolaemias)
  • Familial hypercholesterolaemia
Amber Amber List (moderate evidence)
ABHD12
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • PHARC syndrome (Disorders of complex lipid synthesis)
  • Congenital hearing impairment (profound/severe)
  • Hereditary ataxia
  • Posterior segment abnormalities
Amber Amber List (moderate evidence)
ACY1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Aminoacylase 1 deficiency (Organic acidurias)
  • Intellectual disability
Amber Amber List (moderate evidence)
ADA
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Adenosine deaminase deficiency (Disorders of purine metabolism)
  • Combined B and T cell defect
  • Infantile enterocolitis & monogenic inflammatory bowel disease
  • SCID
Tags
  • gene-therapy-trial
Amber Amber List (moderate evidence)
ADSL
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Adenylosuccinate lyase deficiency (Disorders of purine metabolism)
  • Epileptic encephalopathy
  • Intellectual disability
Amber Amber List (moderate evidence)
ALAS2
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 Amber
  • Literature
Phenotypes
  • X-linked dominant protoporphyria (Porphyrias with acute painful photosensitivity)
  • X-linked sideroblastic anaemia (XLSA) (Porphyrias with acute painful photosensitivity)
  • Erythropoietic protoporphyria, mild variant
Amber Amber List (moderate evidence)
ALDH3A2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Sj gren - Larsson syndrome (Other disorders of lipid and lipoprotein metabolism)
  • Inherited white matter disorders
  • Intellectual disability
Amber Amber List (moderate evidence)
ALG13
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 Amber
  • Literature
Phenotypes
  • ALG13-CDG (Disorders of protein N-glycosylation)
  • Epileptic encephalopathy
  • Intellectual disability
Amber Amber List (moderate evidence)
ALPL
1 review
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypophosphatasia (Disorders of pyridoxine metabolism)
  • Craniosynostosis syndromes phenotypes
  • Osteogenesis Imperfecta
  • Unexplained skeletal dysplasia
Amber Amber List (moderate evidence)
APOB
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Familial hypobetalipoproteinaemia (Inherited hypolipidaemias)
  • Familial hypercholesterolaemia
Amber Amber List (moderate evidence)
ASAH1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Farber disease (Sphingolipidoses)
  • Fetal hydrops
  • Intellectual disability
Amber Amber List (moderate evidence)
CISD2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Wolfram syndrome 2 (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Diabetes with additional phenotypes suggestive of a monogenic aetiology
  • Intellectual disability
Amber Amber List (moderate evidence)
CLDN16
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypomagnesaemia type 3, renal (Disorder of magnesium metabolism)
  • Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)
Amber Amber List (moderate evidence)
CLDN19
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypomagnesaemia type 5, renal with ocular involvement (Disorder of magnesium metabolism)
  • Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)
Amber Amber List (moderate evidence)
CSTB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Myoclonic epilepsy of Unverricht and Lundborg (Other metabolic disorders)
  • Intellectual disability
Amber Amber List (moderate evidence)
CTSC
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Papillon-Lef vre syndrome (Other lysosomal disorders, Cathepsin-related disorders)
  • Unexplained skeletal dysplasia
Amber Amber List (moderate evidence)
CYP7B1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Bile acid synthesis defect, congenital, 3 613812
Amber Amber List (moderate evidence)
DCXR
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Essential pentosuria (Disorders of pentose metabolism)
  • [Pentosuria] 260800
Amber Amber List (moderate evidence)
DHCR24
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Desmosterolosis (Disorders of sterol biosynthesis)
  • Intellectual disability
  • Unexplained skeletal dysplasia
Amber Amber List (moderate evidence)
DHCR7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis)
  • Cataracts
  • Disorders of sex development
  • Intellectual disability
  • IUGR and IGF abnormalities
Amber Amber List (moderate evidence)
DHDDS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Retinitis pigmentosa (other congenital disorders of glycosylation)
  • Posterior segment abnormalities
Amber Amber List (moderate evidence)
DHODH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Dihydroorotate dehydrogenase deficiency (Disorders of pyrimidine metabolism)
  • Bilateral microtia
  • Deafness and congenital structural abnormalities
  • Unexplained skeletal dysplasia
Amber Amber List (moderate evidence)
DPM3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • DMP3-CDG (other congenital disorders of glycosylation)
  • Congenital disorder of glycosylation, type Io 612937
Tags
  • watchlist
Amber Amber List (moderate evidence)
FECH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Erythropoietic protoporphyria (Porphyrias with acute painful photosensitivity)
  • Erythropoietic protoporphyria, mild variant
Amber Amber List (moderate evidence)
FGFR2
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Antley-Bixler syndrome type without disordered steroidogenesis
  • Arthrogryposis
  • Bilateral microtia
  • Choanal atresia
  • Craniosynostosis syndromes phenotypes
  • Deafness and congenital structural abnormalities
  • Unexplained skeletal dysplasia
Amber Amber List (moderate evidence)
FTCD
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Glutamate formiminotransferase deficiency 229100
Tags
  • ngs-false-positive-region
Amber Amber List (moderate evidence)
FXN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Hereditary ataxia
Amber Amber List (moderate evidence)
GAMT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Guanidinoacetate methyltransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism)
  • Intellectual disability
Amber Amber List (moderate evidence)
GK
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 Amber
  • Literature
Phenotypes
  • Glycerol kinase deficiency (Disorders of glycerol metabolism)
  • Intellectual disability
  • Intellectual_disability
Amber Amber List (moderate evidence)
GLUL
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Glutamine deficiency, congenital (Other disorder of amino acid metabolism)
  • Intellectual disability
Amber Amber List (moderate evidence)
GNMT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Expert Review Amber
Phenotypes
  • Glycine N-methyltransferase deficiency 606664
Amber Amber List (moderate evidence)
HADH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • 3-alpha-hydroxyacyl- CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation)
  • Hyperinsulinism
  • Intellectual disability
Amber Amber List (moderate evidence)
HPD
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • 4-hydroxyphenylpyruvate dioxygenase deficiency (Disorders of phenylalanine or tyrosine metabolism)
  • Intellectual disability
Amber Amber List (moderate evidence)
HPS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hermansky-Pudlak Syndrome (Other lysosomal disorders)
  • Infantile enterocolitis & monogenic inflammatory bowel disease
  • Inherited bleeding disorders
Amber Amber List (moderate evidence)
HSD17B10
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 Amber
  • Literature
Phenotypes
  • 2-Methyl-3-hydroxybutyric aciduria, HSD10 disease (Organic acidurias)
  • Intellectual disability
  • Intellectual_disability
Amber Amber List (moderate evidence)
ISCU
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Rhabdomyolysis and metabolic muscle disorders
Amber Amber List (moderate evidence)
LBR
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Greenberg skeletal dysplasia (Disorders of sterol biosynthesis)
  • Fetal hydrops
  • Unexplained skeletal dysplasia
Amber Amber List (moderate evidence)
LDLR
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Disorder of low density lipoprotein receptor (Inherited hypercholesterolaemias)
  • Familial hypercholesterolaemia
Amber Amber List (moderate evidence)
LDLRAP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Autosomal recessive hypercholesterolemia (Inherited hypercholesterolaemias)
  • Familial hypercholesterolaemia
Amber Amber List (moderate evidence)
LIPC
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hepatic lipase deficiency (Inherited mixed hyperlipidaemias)
  • Hepatic lipase deficiency, 614025
  • [High density lipoprotein cholesterol level QTL 12] 612797
  • {Diabetes mellitus, noninsulin-dependent} 125853
Amber Amber List (moderate evidence)
MAGT1
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • IAP-CDG (Disorders of protein N-glycosylation)
  • Combined B and T cell defect
Amber Amber List (moderate evidence)
MANBA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert Review Amber
  • Literature
Phenotypes
  • Mannosidosis, beta 248510
Amber Amber List (moderate evidence)
MAOA
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Literature
  • Expert Review Amber
Phenotypes
  • Brunner syndrome 300615
  • {Antisocial behavior} 300615
Amber Amber List (moderate evidence)
MOCS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Mo cofactor deficiency, complementation group A (Disorders of molybdenum cofactor metabolism)
  • Intellectual disability
Amber Amber List (moderate evidence)
MOCS2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mo cofactor deficiency, complementation group B (Disorders of molybdenum cofactor metabolism)
  • Intellectual disability
Amber Amber List (moderate evidence)
MRPL3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Amber
  • Literature
Phenotypes
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Combined oxidative phosphorylation deficiency 9, 614582
Amber Amber List (moderate evidence)
MTFMT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Inherited white matter disorders
Amber Amber List (moderate evidence)
MTPAP
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Radboud University Medical Center, Nijmegen
  • Expert Review Amber
Phenotypes
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)
  • ?Spastic ataxia 4, autosomal recessive, 613672
Amber Amber List (moderate evidence)
MVK
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mevalonate kinase deficiency (Disorders of sterol biosynthesis)
  • Infantile enterocolitis & monogenic inflammatory bowel disease
Amber Amber List (moderate evidence)
NDUFB9
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Amber
  • Literature
Phenotypes
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • ?Mitochondrial complex I deficiency
Amber Amber List (moderate evidence)
OCRL
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Lowe syndrome (Disorders of amino acid transport)
  • Cataracts
  • Intellectual disability
  • Intellectual_disability
  • Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)
Amber Amber List (moderate evidence)
OPLAH
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Oxoprolinuria (Disorders of the gamma-glutamyl cycle)
  • 5-oxoprolinase deficiency, 260005
Amber Amber List (moderate evidence)
PANK2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Pantothenate kinases deficiency (Other disorders of vitamins and cofactors)
  • Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism)
  • Early onset dystonia
  • Parkinson Disease and Complex Parkinsonism
  • Posterior segment abnormalities
Amber Amber List (moderate evidence)
PCK1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Amber
  • Literature
Phenotypes
  • Phosphoenolpyruvate carboxykinase deficiency (Disorders of gluconeogenesis)
  • ?Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency
  • (PCK1 DEFICIENCY, Cytosolic phosphoenolpyruvate carboxykinase (PEPCK))
Amber Amber List (moderate evidence)
PCSK9
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Autosomal dominant hypercholesterolemia-3 (Inherited hypercholesterolaemias)
  • Familial hypercholesterolaemia
Amber Amber List (moderate evidence)
PEPD
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Prolidase deficiency (Other disorders of peptide metabolism)
  • Intellectual disability
Amber Amber List (moderate evidence)
PGAM2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Glycogen storage disease type X (Glycogen storage disorders)
  • Rhabdomyolysis and metabolic muscle disorders
Amber Amber List (moderate evidence)
PHGDH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Phosphoglycerate dehydrogenase deficiency (Disorders of serine, glycine or glycerate metabolism)
  • Intellectual disability
  • Unexplained skeletal dysplasia
Amber Amber List (moderate evidence)
PINK1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Parkinson disease 6, early onset (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Early onset dystonia
  • Parkinson Disease and Complex Parkinsonism
Amber Amber List (moderate evidence)
PNP
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Purine nucleoside phosphorylase deficiency (Disorders of purine metabolism)
  • SCID
Amber Amber List (moderate evidence)
POR
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Antley-Bixler syndrome with disordered steroidogenesis
  • Craniosynostosis syndromes phenotypes
  • Disorders of sex development
  • Unexplained skeletal dysplasia
Amber Amber List (moderate evidence)
PRPS1
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Phosphoribosyl pyrophosphate synthetase 1 defects (Disorders of purine metabolism)
  • Charcot-Marie-Tooth disease
  • Congenital hearing impairment (profound/severe)
  • Intellectual disability
  • Intellectual_disability
Amber Amber List (moderate evidence)
PSAT1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Phosphoserine aminotransferase deficiency (Disorders of serine, glycine or glycerate metabolism)
  • Unexplained skeletal dysplasia
Amber Amber List (moderate evidence)
PSPH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Phosphoserine phosphatase deficiency (Disorders of serine, glycine or glycerate metabolism)
  • Intellectual disability
  • Unexplained skeletal dysplasia
Amber Amber List (moderate evidence)
PTS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • 6-Pyruvoyl-tetrahydropterin synthase deficiency (Disorders of pterin metabolism)
  • Intellectual disability
Amber Amber List (moderate evidence)
RBP4
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Retinol binding protein deficiency (Other disorders of vitamins and cofactors)
  • Posterior segment abnormalities
Amber Amber List (moderate evidence)
RNASEH2A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS4
  • Inherited white matter disorders
  • Intellectual disability
  • Intracerebral calcification disorders
Amber Amber List (moderate evidence)
RNASEH2B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS2
  • Inherited white matter disorders
  • Intellectual disability
  • Intracerebral calcification disorders
Amber Amber List (moderate evidence)
RNASEH2C
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS3
  • Inherited white matter disorders
  • Intellectual disability
  • Intracerebral calcification disorders
Amber Amber List (moderate evidence)
RNASET2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • RNASET2-deficient cystic leukoencephalopathy (Disorders of nucleotide metabolism)
  • Inherited white matter disorders
  • Intellectual disability
Amber Amber List (moderate evidence)
RYR1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Rhabdomyolysis and metabolic muscle disorders
Amber Amber List (moderate evidence)
SC5D
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Lathosterolosis (Disorders of sterol biosynthesis)
  • Cataracts
  • Intellectual disability
Amber Amber List (moderate evidence)
SDHAF2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Multiple endocrine tumours
  • Multiple Tumours
  • Neuro-endocrine Tumours- PCC and PGL
Amber Amber List (moderate evidence)
SDHC
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Multiple endocrine tumours
  • Multiple Tumours
  • Neuro-endocrine Tumours- PCC and PGL
Amber Amber List (moderate evidence)
SETX
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Amyotrophic lateral sclerosis/motor neuron disease
  • Charcot-Marie-Tooth disease
  • Hereditary ataxia
Amber Amber List (moderate evidence)
SKIV2L
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Trichohepatoenteric syndrome 2 (Other metabolic disorders)
  • Infantile enterocolitis & monogenic inflammatory bowel disease
Amber Amber List (moderate evidence)
SLC12A3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Gitelman syndrome (Disorder of magnesium metabolism)
  • Renal tubular acidosis
Amber Amber List (moderate evidence)
SLC18A2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
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)
Amber Amber List (moderate evidence)
SLC25A12
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Inherited white matter disorders
Amber Amber List (moderate evidence)
SLC2A1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Glucose transporter 1 deficiency (blood-brain barrier) (Disorders of glucose transport)
  • Cataracts
  • Early onset dystonia
  • Epileptic encephalopathy
  • Familial Genetic Generalised Epilepsies
  • Hereditary ataxia
  • Intellectual disability
Amber Amber List (moderate evidence)
SLC35A2
2 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • SLC35A2-CDG (other congenital disorders of glycosylation)
  • Intellectual disability
Amber Amber List (moderate evidence)
SLC3A1
1 review
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cystinuria (Disorders of amino acid transport)
  • Hypotonia-cystinuria syndrome (Disorders of amino acid transport)
  • Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)
Amber Amber List (moderate evidence)
SLC6A3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Dopamine transporter deficiency syndrome (Other disorders of neurotransmitter metabolism)
  • Early onset dystonia
  • Intellectual disability
  • Parkinson Disease and Complex Parkinsonism
Amber Amber List (moderate evidence)
SLC6A8
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Creatine transporter deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism)
  • Intellectual disability
Amber Amber List (moderate evidence)
SLC7A9
1 review
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cystinuria (Disorders of amino acid transport)
  • Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)
Amber Amber List (moderate evidence)
SPR
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Sepiapterin reductase deficiency (Disorders of pterin metabolism)
  • Early onset dystonia
  • Intellectual disability
  • Parkinson Disease and Complex Parkinsonism
Amber Amber List (moderate evidence)
SPTLC1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)
  • Charcot-Marie-Tooth disease
  • Familial dysautonomia
Amber Amber List (moderate evidence)
SPTLC2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)
  • Charcot-Marie-Tooth disease
  • Familial dysautonomia
Amber Amber List (moderate evidence)
ST3GAL3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ST3GAL3-CDG (Disorders of protein N-glycosylation)
  • Intellectual disability
Amber Amber List (moderate evidence)
STS
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 Amber
  • Literature
Phenotypes
  • X-linked ichthyosis (Other disorders in the metabolism of sterols)
  • Autosomal recessive congenital ichthyosis
Amber Amber List (moderate evidence)
TAT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Tyrosinaemia type II (Disorders of phenylalanine or tyrosine metabolism)
  • Intellectual disability
Amber Amber List (moderate evidence)
TCN2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Transcobalamin II deficiency (Disorders of cobalamin absorption, transport and metabolism)
  • A- or hypo-gammaglobulinaemia
  • Agranulocytosis
  • Combined B and T cell defect
  • Congenital neutropaenia
  • Intellectual disability
  • SCID
Amber Amber List (moderate evidence)
TH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Tyrosine hydroxylase deficiency (Disorders of neurotransmitter metabolism, biogenic amines)
  • Early onset dystonia
  • Intellectual disability
  • Parkinson Disease and Complex Parkinsonism
Amber Amber List (moderate evidence)
TREX1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS1
  • Familial cerebral small vessel disease
  • Inherited white matter disorders
  • Intellectual disability
  • Intracerebral calcification disorders
Amber Amber List (moderate evidence)
TTC37
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Trichohepatoenteric syndrome 1 (Other metabolic disorders)
  • Infantile enterocolitis & monogenic inflammatory bowel disease
Amber Amber List (moderate evidence)
TTPA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • TTP1 deficiency (Other disorders of vitamins and cofactors)
  • Hereditary ataxia
Amber Amber List (moderate evidence)
TUFM
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Combined oxidative phosphorylation deficiency 4 610678
Amber Amber List (moderate evidence)
UMOD
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Familial juvenile hyperuricaemic nephropathy (Disorders of purine metabolism)
  • Cystic kidney disease
  • Unexplained kidney failure in young people
Amber Amber List (moderate evidence)
UROC1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Urocanase deficiency (Disorders of histidine, tryptophan or lysine metabolism)
  • Intellectual disability
Amber Amber List (moderate evidence)
VIPAS39
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ARC Syndrome (Other metabolic disorders)
  • Arthrogryposis
  • Inherited bleeding disorders
Amber Amber List (moderate evidence)
VKORC1
1 review
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Vitamin K epoxide reductase deficiency (Other disorders of vitamins and cofactors)
  • Inherited bleeding disorders
Amber Amber List (moderate evidence)
VPS33B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ARC Syndrome (Other metabolic disorders)
  • Arthrogryposis
  • CAKUT
  • Inherited bleeding disorders
  • Unexplained kidney failure in young people
Amber Amber List (moderate evidence)