Undiagnosed metabolic disorders (Version 1.642)

Description

This panel is NO LONGER ACTIVELY MAINTAINED.

Please use with caution, as the gene list has not been recently updated. Reviews added to this panel are no longer a priority for curation and may not be followed up.

Please consider using an NHS Genomic Medicine Service (GMS) panel instead. The full list of GMS panels can be found here: https://nhsgms-panelapp.genomicsengland.co.uk/panels, with links back to PanelApp should you wish to leave a review on the panel.

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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.

Panel Activity

22 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Tracy Lester (Genetics laboratory, Oxford UK)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Richard Scott (Genomics England Curator)

Group: Other
Workplace: Other
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
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Dmitrijs Rots (Children's Clinical University Hospital)

Group: Other
Workplace: Research lab
Catherine Snow (Genomics England)

Group: Other
Workplace: Other
Lothar Schlueter (PTC Therapeutics)

Group: Other
Workplace: Industry
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other
Sharon Whatley (International Porphyria Network)

Group: Other
Workplace: Other
Ida Ertmanska (Genomics England Curator)

Group: Other
Workplace: Other

755 Entities

461 reviewed, 655 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 755 Entitiess
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 Tags
Green List (high evidence)	AASS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Phenotypes Hyperlysinemia, OMIM:238700 Hyperlysinemia (disease), MONDO:0009388 Tags
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 Tags
Green List (high evidence)	ABCA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Tangier disease (Disorders of high density lipoprotein metabolism) Tags
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 Tags
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 Tags
Green List (high evidence)	ABCB7	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	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). Tags
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 Expert Review Green Literature Phenotypes Adrenoleukodystrophy, OMIM:300100 Adrenoleukodystrophy, adult, OMIM:300100 Tags gene-therapy-trial
Green List (high evidence)	ABCD4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Methylmalonic aciduria and homocystinuria, cblJ type 614857 Tags
Green List (high evidence)	ABCG5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Sitosterolaemia (Inherited hypercholesterolaemias) Familial hypercholesterolaemia Tags
Green List (high evidence)	ABCG8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Sitosterolaemia (Inherited hypercholesterolaemias) Familial hypercholesterolaemia Tags
Green List (high evidence)	ABHD12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes PHARC syndrome (Disorders of complex lipid synthesis) Congenital hearing impairment (profound/severe) Hereditary ataxia Posterior segment abnormalities Tags
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 Tags
Green List (high evidence)	ACAD8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Isobutyric aciduria (Organic acidurias) Tags
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 Tags
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 Tags
Green List (high evidence)	ACADS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Acyl-CoA dehydrogenase, short-chain, deficiency of 201470 Tags
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 Tags
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 Tags
Green List (high evidence)	ACAT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 3-Oxothiolase deficiency (Organic acidurias) Cytosolic acetoacetyl-CoA thiolase deficiency (Disorders of ketone body metabolism) Fasting intolerance with acidosis, ? residual neurological problems Tags
Green List (high evidence)	ACO2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Infantile cerebellar-retinal degeneration, 614559 Tags
Green List (high evidence)	ACOX1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470 Tags
Green List (high evidence)	ACSF3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Combined methylmalonic and malonic aciduria (Organic acidurias) Combined malonic and methylmalonic aciduria 614265 Tags
Green List (high evidence)	ACY1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Aminoacylase 1 deficiency (Organic acidurias) Intellectual disability Tags
Green List (high evidence)	ADA	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Severe combined immunodeficiency due to ADA deficiency, OMIM:102700 Adenosine deaminase deficiency, partial, OMIM:102700 Tags gene-therapy-trial
Green List (high evidence)	ADAR	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Aicardi-Goutieres syndrome 6, OMIM:615010 Dyschromatosis symmetrica hereditaria, OMIM:127400 Tags
Green List (high evidence)	ADSL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Adenylosuccinate lyase deficiency (Disorders of purine metabolism) Epileptic encephalopathy Intellectual disability Tags
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 Optic atrophy 12, OMIM:618977 Spinocerebellar ataxia 28, OMIM:610246 Spastic ataxia 5, autosomal recessive, OMIM:614487 Tags
Green List (high evidence)	AGA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Aspartylglucosaminuria 208400 Tags
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 Tags
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 Tags
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 Tags
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 Tags
Green List (high evidence)	AHCY	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 Disorders of the metabolism of sulphur amino acids Tags treatable
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 Tags
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 Tags
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 Tags
Green List (high evidence)	ALAS2	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes Anemia, sideroblastic, 1, OMIM:300751 Protoporphyria, erythropoietic, X-linked, OMIM:300752 Tags
Green List (high evidence)	ALDH18A1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cutis laxa, autosomal dominant 3 OMIM:616603 cutis laxa, autosomal dominant 3 MONDO:0014706 Cutis laxa, autosomal recessive, type IIIA OMIM:219150 ALDH18A1-related de Barsy syndrome MONDO:0009053 Spastic paraplegia 9A, autosomal dominant OMIM:601162 hereditary spastic paraplegia 9A MONDO:0011006 Spastic paraplegia 9B, autosomal recessive OMIM:616586 autosomal recessive complex spastic paraplegia type 9B MONDO:0014702 Tags
Green List (high evidence)	ALDH3A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Sjogren-Larsson syndrome, OMIM:270200 Tags
Green List (high evidence)	ALDH4A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Phenotypes Hyperprolinaemia type II (Disorders of ornithine or proline metabolism) Intellectual disability Hyperprolinemia, type II 239510 Tags
Green List (high evidence)	ALDH5A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Succinic semialdehyde dehydrogenase deficiency 271980 Tags
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 Tags
Green List (high evidence)	ALDH7A1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Epilepsy, pyridoxine-dependent 266100 Tags
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 Tags
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 Tags
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 Tags
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) Tags
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) Tags
Green List (high evidence)	ALG14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital myasthenic sydrome (Disorders of protein N-glycosylation) ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227 Tags
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) Tags
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) Tags
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) Tags
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 Tags
Green List (high evidence)	ALPL	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hypophosphatasia, adult 146300 Hypophosphatasia, childhood 241510 Hypophosphatasia, infantile 241500 Odontohypophosphatasia 146300 Tags
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 Tags
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 Tags
Green List (high evidence)	AMT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Glycine encephalopathy 605899 Tags
Green List (high evidence)	ANO10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 10, 613728 Tags
Green List (high evidence)	APOA1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Amyloidosis, 3 or more types OMIM:105200 familial visceral amyloidosis MONDO:0007099 ApoA-I and apoC-III deficiency, combined OMIM:618463 Hypoalphalipoproteinemia, primary, 2, with or without corneal clouding OMIM:618463 hypoalphalipoproteinemia, primary, 2 MONDO:0032766 Tags
Green List (high evidence)	APOA5	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hyperchylomicronemia, late-onset OMIM:144650 hyperlipoproteinemia type V MONDO:0007762 {Hypertriglyceridemia, susceptibility to} OMIM:145750 hypertriglyceridemia, familial MONDO:0007788 Tags
Green List (high evidence)	APOB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hypercholesterolemia, familial, 2 OMIM:144010 hypercholesterolemia, autosomal dominant, type B MONDO:0007751 Hypobetalipoproteinemia OMIM:615558 familial hypobetalipoproteinemia 1 MONDO:0014252 Tags
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 Tags
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 Tags
Green List (high evidence)	APOPT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061 Isolated complex IV deficiency Tags new-gene-name
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 Tags
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 Tags
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, OMIM:207800 Tags
Green List (high evidence)	ARSA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Metachromatic leukodystrophy 250100 Tags
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 Tags
Green List (high evidence)	ARSE	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Chondrodysplasia punctata, X-linked recessive 302950 Tags new-gene-name
Green List (high evidence)	ASAH1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spinal muscular atrophy with progressive myoclonic epilepsy 159950 Farber lipogranulomatosis 228000 Fetal hydrops Intellectual disability Tags
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 Tags
Green List (high evidence)	ASPA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Canavan disease 271900 Tags
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 Tags
Green List (high evidence)	ATAD3A	4 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Harel-Yoon syndrome, OMIM:617183 Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810 Lactic acidosis Methylglutaconic aciduria Tags
Green List (high evidence)	ATIC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes AICAR transformylase deficiency (Disorders of purine metabolism) Intellectual disability Tags
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 Tags
Green List (high evidence)	ATP5A1	3 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 22, OMIM: 616045 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228 Tags new-gene-name
Green List (high evidence)	ATP5E	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, OMIM:614053 mitochondrial complex V (ATP synthase) deficiency nuclear type 3, MONDO:0013547 Tags new-gene-name
Green List (high evidence)	ATP6AP1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Immunodeficiency 47 Tags
Green List (high evidence)	ATP6V0A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature 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) Tags
Green List (high evidence)	ATP7A	3 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 List (high evidence)	ATP7B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Wilson disease 277900 Tags
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 Tags
Green List (high evidence)	ATPAF2	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) Isolated complex V deficiency Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type Mitochondrial Diseases Tags
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 Tags
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 Tags
Green List (high evidence)	B3GALT6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ehlers-Danlos syndrome, progeroid type, 2 Tags
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) Tags
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) Tags
Green List (high evidence)	B4GALT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type IId, OMIM:607091 Tags
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) Tags
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) Tags
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 Tags
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 Tags
Green List (high evidence)	BCKDK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Literature Radboud University Medical Center, Nijmegen Phenotypes Branched-chain ketoacid dehydrogenase kinase deficiency 614923 Tags
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, 124000 Leigh syndrome, 256000 Bjornstad syndrome, 262000 GRACILE syndrome, 603358 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex III Deficiency Tags
Green List (high evidence)	BOLA3	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 Multiple mitochondrial dysfunctions syndrome 2, 614299 Hyperglycinaemia, non-ketotic (Baker (2014) Brain 137,366) Multiple Mitochondrial Dysfunctions Syndrome Tags
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 Tags
Green List (high evidence)	C12orf65	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 7, OMIM:613559 Spastic paraplegia 55, autosomal recessive, OMIM:615035 Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags new-gene-name
Green List (high evidence)	C19orf12	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes ?Spastic paraplegia 43, autosomal recessive, OMIM:615043 Neurodegeneration with brain iron accumulation 4, OMIM: 614298 Tags
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 Tags
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 Tags
Green List (high evidence)	CBS	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Homocystinuria, B6-responsive and nonresponsive types 236200 Thrombosis, hyperhomocysteinemic 236200 Tags treatable
Green List (high evidence)	CCDC115	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIo 616828 Tags new-gene-name
Green List (high evidence)	CHCHD10	1 review	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 Tags
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 Tags
Green List (high evidence)	CHST14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature 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) Tags
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) Tags
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) Tags
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) Tags
Green List (high evidence)	CISD2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Wolfram syndrome 2 604928 Tags
Green List (high evidence)	CLDN16	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hypomagnesemia 3, renal, OMIM:248250 Tags
Green List (high evidence)	CLDN19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hypomagnesemia 5, renal, with ocular involvement 248190 Tags
Green List (high evidence)	CLN3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ceroid lipofuscinosis, neuronal, 3 204200 Tags
Green List (high evidence)	CLN5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ceroid lipofuscinosis, neuronal, 5 OMIM:256731 neuronal ceroid lipofuscinosis 5 MONDO:0009745 Tags
Green List (high evidence)	CLN6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ceroid lipofuscinosis, neuronal, 6 601780 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset 204300 Tags
Green List (high evidence)	CLN8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ceroid lipofuscinosis, neuronal, 8 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003 Tags
Green List (high evidence)	CLPB	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271 3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM: 619835 Neutropenia, severe congenital, 9, autosomal dominant, OMIM: 619813 Tags
Green List (high evidence)	CLPP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Perrault syndrome 3, 614129 Tags
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 Tags
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) Tags
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) Tags
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) Tags
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) Tags
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) Tags
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) Tags
Green List (high evidence)	COQ2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Coenzyme Q10 deficiency, primary, 1, OMIM:607426 Tags
Green List (high evidence)	COQ4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Coenzyme Q10 deficiency, primary, 7, OMIM:616276 Tags
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 Tags
Green List (high evidence)	COQ7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes ?Coenzyme Q10 deficiency, primary, 8 616733 Tags
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 Tags
Green List (high evidence)	COQ8B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Nephrotic syndrome, type 9 Tags
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 Tags
Green List (high evidence)	COX10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome coxidase deficiency Tags
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 Tags
Green List (high evidence)	COX15	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119 Tags
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 Tags
Green List (high evidence)	COX6A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Charcot-Marie-Tooth disease, recessive intermediate D, 616039 Tags
Green List (high evidence)	COX6B1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051 Tags
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 Tags
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 Tags
Green List (high evidence)	CPOX	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Coproporphyria, OMIM:121300 Harderoporphyria, OMIM:618892 Tags treatable
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 Tags
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 Tags
Green List (high evidence)	CPT2	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes CPT II deficiency, infantile, OMIM:600649 CPT II deficiency, lethal neonatal, OMIM:608836 CPT II deficiency, myopathic, stress-induced, OMIM:255110 Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle) Tags
Green List (high evidence)	CTH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cystathioninuria 219500 AR Homocysteine, total plasma, elevated Tags
Green List (high evidence)	CTNS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cystinosis, atypical nephropathic 219800 Cystinosis, late-onset juvenile or adolescent nephropathic 219900 Cystinosis, nephropathic 219800 Cystinosis, ocular nonnephropathic 219750 Tags
Green List (high evidence)	CTSA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Galactosialidosis 256540 Tags
Green List (high evidence)	CTSC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Haim-Munk syndrome 245010 Papillon-Lefevre syndrome 245000 Periodontitis 1, juvenile 170650 Tags
Green List (high evidence)	CTSD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ceroid lipofuscinosis, neuronal, 10 610127 Tags
Green List (high evidence)	CTSK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Pycnodysostosis 265800 Tags
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 Tags
Green List (high evidence)	CYC1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Isolated complex III deficiency Mitochondrial complex III deficiency, nuclear type 6, 615453 Tags
Green List (high evidence)	CYP27A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cerebrotendinous xanthomatosis 213700 Tags
Green List (high evidence)	CYP7B1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Phenotypes Bile acid synthesis defect, congenital, 3 613812 Tags treatable
Green List (high evidence)	D2HGDH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes D-2-hydroxyglutaric aciduria 600721 Tags
Green List (high evidence)	DARS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity Tags new-gene-name
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 Tags
Green List (high evidence)	DBH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN 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 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 Tags
Green List (high evidence)	DCXR	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes [Pentosuria] 260800 Tags
Green List (high evidence)	DDC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Aromatic L-amino acid decarboxylase deficiency, OMIM:608643 Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084 Tags
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 Tags
Green List (high evidence)	DHCR24	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Desmosterolosis 602398 Tags
Green List (high evidence)	DHCR7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis) Cataracts Disorders of sex development Intellectual disability IUGR and IGF abnormalities Tags
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 Tags
Green List (high evidence)	DHODH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Miller syndrome 263750 Tags
Green List (high evidence)	DHTKD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature 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 Tags
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 Tags
Green List (high evidence)	DLD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dihydrolipoamide dehydrogenase deficiency, OMIM:246900 Dihydrolipoyl dehydrogenase deficiency (Disorders of pyruvate metabolism) Leigh syndrome Tags
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 Tags
Green List (high evidence)	DNAJC12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 Tags
Green List (high evidence)	DNAJC19	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes 3-methylglutaconic aciduria, type V 610198 Tags
Green List (high evidence)	DNAJC5	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ceroid lipofuscinosis, neuronal, 4, Parry type 162350 Tags
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 Tags
Green List (high evidence)	DNM2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Centronuclear myopathy 1 160150 Charcot-Marie-Tooth disease, axonal type 2M 606482 Charcot-Marie-Tooth disease, dominant intermediate B 606482 Tags
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) Tags
Green List (high evidence)	DPAGT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature 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) Tags
Green List (high evidence)	DPM1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type Ie, OMIM:608799 GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) Tags
Green List (high evidence)	DPM2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type Iu 615042 Tags
Green List (high evidence)	DPM3	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937 Tags
Green List (high evidence)	DPYD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dihydropyrimidine dehydrogenase deficiency (Disorders of pyrimidine metabolism) Dihydropyrimidine dehydrogenase deficiency 274270 Tags pharmacogenetics
Green List (high evidence)	DPYS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Phenotypes Dihydropyrimidinuria, OMIM:222748 Dihydropyrimidinase deficiency (Disorders of pyrimidine metabolism) Tags
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 Tags
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 Tags
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 Expert Review Green Literature Phenotypes X-linked dominant chondrodysplasia punctata 2 (Disorders of sterol biosynthesis) Chondrodysplasia punctata, X-linked dominant 302960 XLD MEND syndrome 300960 XLR Tags
Green List (high evidence)	ECHS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277 Tags
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 Tags
Green List (high evidence)	ENO3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature UKGTN Phenotypes ?Glycogen storage disease XIII 612932 Rhabdomyolysis and metabolic muscle disorders Tags
Green List (high evidence)	EPG5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Vici syndrome, 242840 IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM Tags
Green List (high evidence)	EPM2A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Myoclonic epilepsy of Lafora 1, OMIM:254780 Tags
Green List (high evidence)	ETFA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Glutaric acidemia IIA, OMIM:231680 multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 Tags
Green List (high evidence)	ETFB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Glutaric acidemia IIB, OMIM:231680 multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 Tags
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 Tags
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 Tags
Green List (high evidence)	EXT1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) Exostoses, multiple, type 1 133700 Tags
Green List (high evidence)	EXT2	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature 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) Tags
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 Tags
Green List (high evidence)	FAH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Tyrosinemia, type I 276700 Tags
Green List (high evidence)	FAR1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154 Tags
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 Tags
Green List (high evidence)	FASTKD2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 44, OMIM:618855 Tags
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 Tags
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. Tags
Green List (high evidence)	FDX2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900 mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714 Tags
Green List (high evidence)	FECH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Protoporphyria, erythropoietic, 1 177000 Tags
Green List (high evidence)	FGFR2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410 Apert syndrome 101200 Beare-Stevenson cutis gyrata syndrome 123790 Bent bone dysplasia syndrome 614592 Craniofacial-skeletal-dermatologic dysplasia 101600 Craniosynostosis, nonspecific Crouzon syndrome 123500 Gastric cancer, somatic 613659 Jackson-Weiss syndrome 123150 LADD syndrome 149730 Pfeiffer syndrome 101600 Saethre-Chotzen syndrome 101400 Scaphocephaly and Axenfeld-Rieger anomaly Scaphocephaly, maxillary retrusion, and mental retardation 609579 Tags
Green List (high evidence)	FH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Fumarase deficiency, OMIM:606812 Disorders of the citric acid cycle Tags
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 Tags
Green List (high evidence)	FKTN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature 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 Tags
Green List (high evidence)	FMO3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Trimethylaminuria, 602079 Tags treatable
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 Tags
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 Tags
Green List (high evidence)	FTCD	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Glutamate formiminotransferase deficiency 229100 Tags ngs-false-positive-region
Green List (high evidence)	FUCA1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fucosidosis 230000 Tags
Green List (high evidence)	FUT8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Congenital disorder of glycosylation with defective fucosylation, 618005 Tags
Green List (high evidence)	FXN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Friedreich ataxia, OMIM:229300 Friedreich ataxia with retained reflexes, OMIM:229300 Tags nucleotide-repeat-expansion
Green List (high evidence)	G6PC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Glycogen storage disease Ia, OMIM:232200 Tags new-gene-name
Green List (high evidence)	G6PC3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Dursun syndrome 612541 Neutropenia, severe congenital 4, autosomal recessive 612541 Tags
Green List (high evidence)	GAA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Phenotypes Glycogen storage disease II 232300 Tags
Green List (high evidence)	GABRG2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Epilepsy, generalized, with febrile seizures plus, type 3 611277 Febrile seizures, familial, 8 611277 {Epilepsy, childhood absence, susceptibility to, 2} 607681 Tags
Green List (high evidence)	GALC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Krabbe disease, OMIM:245200 Tags
Green List (high evidence)	GALE	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Uridine diphosphate galactose-4-epimerase deficiency (Disorders of galactose metabolism) Intellectual disability Tags
Green List (high evidence)	GALK1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Galactokinase deficiency with cataracts 230200 Tags
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 Tags
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 Tags
Green List (high evidence)	GALT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Galactosemia, OMIM:230400 Tags
Green List (high evidence)	GAMT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Guanidinoacetate methyltransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism) Intellectual disability Tags
Green List (high evidence)	GARS	1 review	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 Tags new-gene-name
Green List (high evidence)	GATM	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebral creatine deficiency syndrome 3, OMIM:612718 Arginine:glycine amidinotransferase deficiency Mitochondrial respiratory chain disorders (caused by nuclear variants only) Disorders of creatinine metabolism Tags
Green List (high evidence)	GBA	1 review	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 Tags new-gene-name
Green List (high evidence)	GBE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Glycogen storage disease IV, OMIM:232500 Polyglucosan body disease, adult form, OMIM:263570 Tags
Green List (high evidence)	GCDH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Glutaricaciduria, type I 231670 Tags
Green List (high evidence)	GCH1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia 128230 Hyperphenylalaninemia, BH4-deficient, B 233910 Tags
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 Tags
Green List (high evidence)	GDAP1	1 review 1 red	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, axonal, type 2K, OMIM:607831 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, OMIM:607706 Charcot-Marie-Tooth disease, recessive intermediate, A, OMIM:608340 Charcot-Marie-Tooth disease, type 4A, OMIM:214400 Tags
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 Tags
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 Tags
Green List (high evidence)	GFPT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital myasthenic sydrome (Disorders of protein N-glycosylation) Myasthenia, congenital, 12, with tubular aggregates(Disorders of protein N-glycosylation) 610542 Tags
Green List (high evidence)	GIF	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Intrinsic factor deficiency 261000 Tags new-gene-name
Green List (high evidence)	GK	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Glycerol kinase deficiency 307030 Tags
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 Tags
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 Tags
Green List (high evidence)	GLDC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Glycine encephalopathy 605899 Tags
Green List (high evidence)	GLRA1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Hyperekplexia, hereditary 1, 149400 Tags
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 Tags
Green List (high evidence)	GLUD1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Hyperinsulinemic hypoglycemia and hyperammonemia (Urea cycle disorders and inherited hyperammonaemias) Hyperinsulinism-hyperammonemia syndrome, 606762 Tags
Green List (high evidence)	GLUL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Glutamine deficiency, congenital 610015 Tags
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 List (high evidence)	GM2A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes GM2-gangliosidosis, AB variant 272750 Tags
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 OMIM:615350 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MONDO:0014140 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 OMIM:615351 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 MONDO:0014141 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352 autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142 Tags
Green List (high evidence)	GNE	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Sialuria OMIM:269921 sialuria MONDO:0010028 Nonaka myopathy OMIM:605820 GNE myopathy MONDO:0011603 Tags
Green List (high evidence)	GNMT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Glycine N-methyltransferase deficiency 606664 Tags
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 Tags
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 Tags
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 Tags
Green List (high evidence)	GNS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mucopolysaccharidosis type IIID, OMIM:252940 Tags
Green List (high evidence)	GPD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hypertriglyceridemia, transient infantile, 614480 Tags
Green List (high evidence)	GPHN	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Molybdenum cofactor deficiency C, OMIM:615501 Mo cofactor deficiency, complementation group C (Disorders of molybdenum cofactor metabolism) Tags deletions treatable
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 Tags
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 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 Tags
Green List (high evidence)	GUSB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes MPS VII, Sly disease (MPS IV, Morquio disease) Mucopolysaccharidosis VII, 253220 Mucopolysaccharidosis, Type VII Mucopolysaccharidosis Type VII MUCOPOLYSACCHARIDOSIS TYPE 7 Tags
Green List (high evidence)	GYG1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes ?Glycogen storage disease XV 613507 Polyglucosan body myopathy 2 616199 Tags
Green List (high evidence)	GYS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Glycogen storage disease 0, muscle 611556 Tags
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 Tags
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 List (high evidence)	HADH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency 231530 Hyperinsulinemic hypoglycemia, familial, 4 609975 Tags
Green List (high evidence)	HADHA	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 Tags
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 Tags
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 Tags
Green List (high evidence)	HARS2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes ?Perrault syndrome 2 614926 Tags
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 Tags
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 Radboud University Medical Center, Nijmegen UKGTN Phenotypes Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) 309541 Tags
Green List (high evidence)	HEXA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes GM2-gangliosidosis, several forms 272800 Tay-Sachs disease 272800 [Hex A pseudodeficiency] 272800 Tags
Green List (high evidence)	HEXB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800 Tags
Green List (high evidence)	HFE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hemochromatosis, OMIM:235200 Disorder of iron metabolism Tags
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 List (high evidence)	HGD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Alkaptonuria 203500 Tags
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 Tags
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 Tags
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 Tags
Green List (high evidence)	HMBS	2 reviews 2 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 Tags
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) Tags
Green List (high evidence)	HMGCS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes HMG-CoA synthase-2 deficiency 605911 Tags
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 Tags
Green List (high evidence)	HPD	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hawkinsinuria 140350 Tyrosinemia, type III 276710 Tags
Green List (high evidence)	HPRT1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Hyperuricemia, HRPT-related, OMIM:300323 Lesch-Nyhan syndrome, OMIM:300322 Tags
Green List (high evidence)	HPS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hermansky-Pudlak syndrome 1 203300 Tags
Green List (high evidence)	HS2ST1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability dysmorphic features congenital anomalies Tags
Green List (high 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 Green Literature Phenotypes HSD10 mitochondrial disease, OMIM:300438 Tags
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 Tags
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 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 Leukodystrophy, hypomyelinating, 4, OMIM:612233 (AR) Spastic paraplegia 13, autosomal dominant, OMIM:605280 (AD) Tags
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 Tags
Green List (high evidence)	HYAL1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature UKGTN Phenotypes ?Mucopolysaccharidosis type IX, 601492 Tags
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)) Tags
Green List (high evidence)	IBA57	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330 ?Spastic paraplegia 74, autosomal recessive, OMIM:616451 Tags
Green List (high evidence)	IDH2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias) D-2-hydroxyglutaric aciduria 2, 613657 Tags mosaicism
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 Tags
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 Tags
Green List (high evidence)	IER3IP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Microcephaly, epilepsy, and diabetes syndrome 614231 Tags
Green List (high evidence)	2p21 region (includes PREPL and SLC3A1) Loss ISCA-37440-Loss Region	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes mild/moderate mental retardation facial dysmorphism Hypotonia-cystinuria syndrome (HCS) 2p21 deletion syndrome rapid weight gain in late childhood failure to thrive growth hormone deficiency 606407 lactic acidemia respiratory chain complex IV deficiency hyperphagia minor facial dysmorphism severe somatic and developmental delay nephrolithiasis cystinuria neonatal seizures hypotonia Tags
Green List (high evidence)	ISCA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Multiple mitochondrial dysfunctions syndrome 4 616370 Tags
Green List (high evidence)	ISCU	2 reviews 1 green	BOTH monoallelic and 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)) Rhabdomyolysis and metabolic muscle disorders Tags non-coding-known-pathogenic
Green List (high evidence)	ISPD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 Tags new-gene-name
Green List (high evidence)	ITPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Inosine triphosphatase deficiency (Disorders of purine metabolism) Epileptic encephalopathy, early infantile, 35, 616647 [Inosine triphosphatase deficiency], 613850 Tags
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 Tags
Green List (high evidence)	KARS	1 review	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 Tags new-gene-name
Green List (high evidence)	KYNU	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism) ?Hydroxykynureninuria, 236800 multiple congenital malformations VACTERL-like phenotype Tags treatable
Green List (high evidence)	L2HGDH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes L-2-hydroxyglutaric aciduria 236792 Tags
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 Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Danon disease 300257 Tags
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) Tags
Green List (high evidence)	LARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes ?Infantile liver failure syndrome 1, 615438 Tags new-gene-name
Green List (high evidence)	LARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Perrault syndrome 4, OMIM:615300 Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021 Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only) Multiple respiratory chain complex deficiencies (disorders of protein synthesis Tags
Green List (high evidence)	LBR	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes ?Reynolds syndrome 613471 Greenberg skeletal dysplasia 215140 Pelger-Huet anomaly 169400 Pelger-Huet anomaly with mild skeletal anomalies 618019 Tags
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 Tags
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 Tags
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 Tags
Green List (high evidence)	LDLR	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Hypercholesterolemia, familial, 1 143890 LDL cholesterol level QTL2 143890 Tags
Green List (high evidence)	LDLRAP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hypercholesterolemia, familial, 4 603813 Tags
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 Tags
Green List (high evidence)	LIPA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cholesteryl ester storage disease 278000 Wolman disease 278000 Tags
Green List (high evidence)	LIPT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lipoyltransferase 1 deficiency Tags
Green List (high evidence)	LMBRD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Methylmalonic aciduria and homocystinuria, cblF type 277380 Tags
Green List (high evidence)	LONP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373) Tags
Green List (high evidence)	LPIN1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Myoglobinuria, acute recurrent, autosomal recessive 268200 Tags
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 Tags
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 Tags
Green List (high evidence)	LYRM4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 19, OMIM:615595 Tags
Green List (high evidence)	MAGT1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type Icc OMIM:301031 congenital disorder of glycosylation, type ICC MONDO:0026729 Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia OMIM:300853 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia MONDO:0010455 Tags Skewed X-inactivation
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) Tags
Green List (high evidence)	MAN2B1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mannosidosis, alpha-, types I and II 248500 Tags
Green List (high evidence)	MANBA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Mannosidosis, beta 248510 Tags
Green List (high evidence)	MAOA	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Brunner syndrome 300615 {Antisocial behavior} 300615 Tags
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 List (high evidence)	MAT1A	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency 250850 Methionine adenosyltransferase deficiency, autosomal recessive 250850 Tags
Green List (high evidence)	MCCC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes 3-Methylcrotonyl-CoA carboxylase 1 deficiency 210200 Tags
Green List (high evidence)	MCCC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency 210210 Tags
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 Tags
Green List (high evidence)	MCOLN1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mucolipidosis IV (Other lysosomal disorders) Mucolipidosis, Type IV Tags
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 Tags
Green List (high evidence)	MFN2	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260 Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM:617087 Hereditary motor and sensory neuropathy VIA, OMIM:601152 Tags
Green List (high evidence)	MFSD8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ceroid lipofuscinosis, neuronal, 7 610951 Macular dystrophy with central cone involvement 616170 Tags
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) Tags
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 Tags
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 Tags
Green List (high evidence)	MMAA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Defect in adenosylcobalamin synthesis-cbl A (Disorders of cobalamin absorption, transport and metabolism) Methylmalonic aciduria, vitamin B12-responsive 251100 Tags
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 Tags
Green List (high evidence)	MMACHC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Methylmalonic aciduria and homocystinuria, cblC type 277400 Tags
Green List (high evidence)	MMADHC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Homocystinuria, cblD type, variant 1 277410 Methylmalonic aciduria and homocystinuria, cblD type 277410 Methylmalonic aciduria, cblD type, variant 2 277410 Tags
Green List (high evidence)	MOCS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Molybdenum cofactor deficiency A 252150 Tags
Green List (high evidence)	MOCS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Molybdenum cofactor deficiency B 252160 Tags
Green List (high evidence)	MOGS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Phenotypes MOGS-CDG (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type IIb, 606056 (MOGS-CDG (Disorders of protein N-glycosylation)) Tags
Green List (high evidence)	MPDU1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature 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) Tags
Green List (high evidence)	MPI	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type Ib, OMIM:602579 MPI-CDG, MONDO:0011257 Phosphomannose isomerase deficiency (Disorders of protein N-glycosylation) Tags
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 Tags
Green List (high evidence)	MRPL3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Phenotypes Combined oxidative phosphorylation deficiency 9, 614582 Tags
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 Tags
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, OMIM:616834 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793 Tags
Green List (high evidence)	MT-ATP6	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked
Green List (high evidence)	MT-ATP8	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Phenotypes Mitochondrial cardiomyopathy complex V (ATP synthase) deficiency Tags gene-checked
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 Tags gene-checked
Green List (high evidence)	MT-CO2	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Phenotypes CYTOCHROME c OXIDASE DEFICIENCY Tags gene-checked
Green List (high evidence)	MT-CO3	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked
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 Tags gene-checked
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 Tags gene-checked
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 Tags gene-checked
Green List (high evidence)	MT-ND3	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY Tags gene-checked
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-checked gene-therapy-trial
Green List (high evidence)	MT-ND4L	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Phenotypes LEBER OPTIC ATROPHY Tags gene-checked
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 Tags gene-checked
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 Tags gene-checked
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 gene-checked locus-type-rna-ribosomal
Green List (high evidence)	MT-TA	1 review	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MYOTONIC DYSTROPHY-LIKE MYOPATHY MITOCHONDRIAL MYOPATHY Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MT-TC	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MELAS SYNDROME DYSTONIA, MITOCHONDRIAL Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MT-TD	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MITOCHONDRIAL MYOPATHY, ISOLATED Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MT-TE	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS DIABETES AND DEAFNESS, MATERNALLY INHERITED MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MT-TF	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MT-TG	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MT-TH	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MT-TI	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Phenotypes familial hypertrophic cardiomyopathy, MONDO:0024573 familial dilated cardiomyopathy, MONDO:0016333 Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MT-TK	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MT-TL1	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MT-TL2	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MT-TM	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MT-TN	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MT-TP	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MT-TQ	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MT-TR	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MT-TS1	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags locus-type-rna-transfer
Green List (high evidence)	MT-TS2	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags locus-type-rna-transfer
Green List (high evidence)	MT-TV	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags locus-type-rna-transfer
Green List (high evidence)	MT-TW	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MT-TY	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MTFMT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 15 614947 Mitochondrial complex I deficiency, nuclear type 27 618248 Tags
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 Tags
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. Tags
Green List (high evidence)	MTPAP	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Phenotypes ?Spastic ataxia 4, autosomal recessive, 613672 Tags
Green List (high evidence)	MTR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Phenotypes Homocystinuria-megaloblastic anemia, cblG complementation type 250940 {Neural tube defects, folate-sensitive, susceptibility to} 601634 Tags
Green List (high evidence)	MTRR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Homocystinuria-megaloblastic anemia, cbl E type 236270 {Neural tube defects, folate-sensitive, susceptibility to} 601634 Tags
Green List (high evidence)	MTTP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Phenotypes Familial abetalipoproteinaemia (Inherited hypolipidaemias) Abetalipoproteinemia, 200100 (ACANTHOCYTOSIS, BASSEN-KORNZWEIG SYNDROME, MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY, MTP DEFICIENCY) Tags
Green List (high evidence)	MUT	1 review	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 Tags new-gene-name
Green List (high evidence)	MVK	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hyper-IgD syndrome, OMIM:260920 Mevalonic aciduria, OMIM:610377 Porokeratosis 3, multiple types, OMIM:175900 Tags
Green List (high evidence)	NAGA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Kanzaki disease 609242 Schindler disease, type I 609241 Schindler disease, type III 609241 Tags
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 Tags
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 Tags
Green List (high evidence)	NARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Combined oxidative phosphorylation deficiency 24 Tags
Green List (high evidence)	NDUFA1	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green 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 Tags
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 Tags
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 Tags
Green List (high evidence)	NDUFA12	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Phenotypes Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 Tags
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 Tags
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 Tags
Green List (high evidence)	NDUFAF2	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 Leigh syndrome, 256000 Mitochondrial Respiratory Chain Complex I Deficiency Tags
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 Tags
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 Tags
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 Tags
Green List (high evidence)	NDUFAF6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Phenotypes Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Leigh syndrome due to mitochondrial complex I deficiency, 256000 Tags
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 Tags
Green List (high evidence)	NDUFB3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246 Tags
Green List (high evidence)	NDUFC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial complex I deficiency, nuclear type 36 OMIM:619170 Tags
Green List (high evidence)	NDUFS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Isolated complex I deficiency Tags
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 Tags
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 Tags
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 Tags
Green List (high evidence)	NDUFS6	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 Complex I, mitochondrial respiratory chain, deficiency of, 252010 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex I Deficiency Tags
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 Tags
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 Tags
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 Tags
Green List (high evidence)	NDUFV2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Tags
Green List (high evidence)	NEU1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Sialidosis, type I, OMIM:256550 Sialidosis, type II, OMIM:256550 Mucolipidosis, Type I Tags
Green List (high evidence)	NFU1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711 Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green List (high evidence)	NGLY1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Alacrimia-choreoathetosis-liver dysfunction syndrome OrphaNet: ORPHA404454 OMIM:615273 Tags
Green List (high evidence)	NHLRC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Epilepsy, progressive myoclonic 2B (Lafora) 254780 Tags
Green List (high evidence)	NNT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736 Tags
Green List (high evidence)	NPC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Niemann-Pick disease, type C1 257220 Niemann-Pick disease, type D 257220 Tags
Green List (high evidence)	NPC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Niemann-pick disease, type C2 607625 Tags
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 Expert Review Green Literature Phenotypes Congenital hemidysplasia with ichtyosiform erythroderma and limb defects (Disorders of sterol biosynthesis) CHILD syndrome 308050 XLD CK syndrome 300831 XLR Tags
Green List (high evidence)	NT5C3A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Phenotypes Uridine-5 -monophosphate hydrolase superactivity (Disorders of pyrimidine metabolism) Anemia, hemolytic, due to UMPH1 deficiency, 266120 Tags
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 Tags
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 Tags
Green List (high evidence)	OCRL	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Dent disease 2, OMIM:300555 Lowe syndrome, OMIM:309000 Tags
Green List (high evidence)	OGDH	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Phenotypes Alpha-ketoglutarate dehydrogenase deficiency, OMIM:203740 oxoglutaricaciduria, MONDO:0008759 Tags
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 Optic atrophy 1, OMIM:165500 Optic atrophy plus syndrome, OMIM:125250 Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896 Behr syndrome, OMIM:210000 Tags
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 Tags
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 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 Tags
Green List (high evidence)	PAH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Phenylketonuria 261600 [Hyperphenylalaninemia, non-PKU mild] 261600 Tags
Green List (high evidence)	PANK2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes HARP syndrome 607236 Neurodegeneration with brain iron accumulation 234200 Tags
Green List (high evidence)	PC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pyruvate carboxylase deficiency, OMIM:266150 Tags
Green List (high evidence)	PCBD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Hyperphenylalaninemia, BH4-deficient, D 264070 Tags
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 Tags
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 Tags
Green List (high evidence)	PCK1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Phenotypes ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic 261680 Tags
Green List (high evidence)	PCSK9	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Hypercholesterolemia, familial, 3 603776 {Low density lipoprotein cholesterol level QTL 1} 603776 Tags
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 Tags
Green List (high evidence)	PDHB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111 Tags
Green List (high evidence)	PDHX	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lacticacidemia due to PDX1 deficiency, OMIM:245349 Tags
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 Tags
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 Tags
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 Tags
Green List (high evidence)	PEPD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Prolidase deficiency 170100 Tags
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 Tags
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 Tags
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 Tags
Green List (high evidence)	PEX11B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Peroxisome biogenesis disorder 14B Tags
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 Tags
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) Tags
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) Tags
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 Tags
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) Tags
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 Tags
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 Tags
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 Tags
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) Tags
Green List (high evidence)	PEX6	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Heimler syndrome 2, OMIM:616617 Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862 Peroxisome biogenesis disorder 4B, OMIM:614863 Tags
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 Tags
Green List (high evidence)	PFKM	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Glycogen storage disease VII 232800 Tags
Green List (high evidence)	PGAM2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Glycogen storage disease type X (Glycogen storage disorders) Rhabdomyolysis and metabolic muscle disorders Tags
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) Tags
Green List (high evidence)	PGAP3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperphosphatasia with mental retardation syndrome 4 Tags
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 Tags
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 Tags
Green List (high evidence)	PGM3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 23 Tags
Green List (high evidence)	PHGDH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neu-Laxova syndrome 1 256520 Phosphoglycerate dehydrogenase deficiency 601815 Tags
Green List (high evidence)	PHKA1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Muscle glycogenosis 300559 Tags
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 Tags
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 Tags
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 Tags
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 Tags
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 Tags Skewed X-inactivation
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) Tags
Green List (high evidence)	PIGM	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Glycosylphosphatidylinositol deficiency, OMIM:610293 Tags curated-variant-list non-coding-known-pathogenic promoter
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 Tags
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) Tags
Green List (high evidence)	PIGT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398 Tags
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) Tags
Green List (high evidence)	PINK1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Parkinson disease 6, early onset 605909 Tags
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 Tags
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) Tags
Green List (high evidence)	PMPCA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes non-progressive cerebellar ataxia slowly progressive cerebellar ataxia Tags
Green List (high evidence)	PNP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency due to purine nucleoside phosphorylase deficiency 613179 Tags
Green List (high evidence)	PNPO	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Pyridoxamine 5 -oxidase deficiency (Disorders of pyridoxine metabolism) Tags
Green List (high evidence)	PNPT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 13, OMIM:614932 Deafness, autosomal recessive 70, OMIM:614934 Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Green List (high evidence)	POLG	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 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 Tags
Green List (high evidence)	POLG2	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528 Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131 Tags
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) Tags
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 Tags
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) Tags
Green List (high evidence)	POMT2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature 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) Tags
Green List (high evidence)	POR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750 Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571 Tags
Green List (high evidence)	PPA2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Sudden cardiac failure, infantile, 617222 Sudden cardiac failure, alcohol-induced, 617223 Tags
Green List (high evidence)	PPOX	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Variegate porphyria (Acute neuropathic porphyrias) Porphyria variegata 176200 Tags
Green List (high evidence)	PPT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ceroid lipofuscinosis, neuronal, 1 256730 Tags
Green List (high evidence)	PRKAG2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cardiomyopathy, hypertrophic 6 600858 Glycogen storage disease of heart, lethal congenital 261740 Wolff-Parkinson-White syndrome 194200 Tags
Green List (high evidence)	PRODH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hyperprolinemia, type I, OMIM:239500 hyperprolinemia type 1, MONDO:0009400 Tags
Green List (high evidence)	PRPS1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Arts syndrome 301835 Charcot-Marie-Tooth disease, X-linked recessive, 5 311070 Deafness, X-linked 1 304500 Gout, PRPS-related 300661 Phosphoribosylpyrophosphate synthetase superactivity 300661 Tags
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 Tags
Green List (high evidence)	PSAT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes ?Phosphoserine aminotransferase deficiency 610992 Neu-Laxova syndrome 2 616038 Tags
Green List (high evidence)	PTS	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 6-Pyruvoyl-tetrahydropterin synthase deficiency (Disorders of pterin metabolism) Intellectual disability Hyperphenylalaninemia, BH4-deficient, A 261640 Tags
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)) Tags
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 Tags
Green List (high evidence)	PYGL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature 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 Tags
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 Tags
Green List (high evidence)	QDPR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Hyperphenylalaninemia, BH4-deficient, C 261630 Tags
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 Tags
Green List (high evidence)	RBCK1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895 Tags
Green List (high evidence)	RBP4	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Retinol binding protein deficiency (Other disorders of vitamins and cofactors) Posterior segment abnormalities Tags
Green List (high evidence)	RFT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature 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) Tags
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 Tags
Green List (high evidence)	RNASEH1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 Tags
Green List (high evidence)	RPIA	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ribose-5-phosphate isomerase deficiency (Disorders of pentose metabolism) Ribose 5-phosphate isomerase deficiency, OMIM:608611 Tags
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 Tags
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, 613077 Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 Mitochondrial DNA Depletion Syndrome (recessive) Tags
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 Tags
Green List (high evidence)	SAMHD1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS5 Aicardi-Goutieres syndrome-5 (AGS5) Tags
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 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 Tags
Green List (high evidence)	SC5D	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lathosterolosis (Disorders of sterol biosynthesis) Cataracts Intellectual disability Tags
Green List (high evidence)	SCO1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048 Tags
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, 604377 Myopia 6, 608908 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex IV Deficiency Tags
Green List (high evidence)	SCP2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Sterol carrier protein deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation) Tags
Green List (high evidence)	SDHA	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011 Neurodegeneration with ataxia and late-onset optic atrophy, OMIM:619259 Cardiomyopathy, dilated, 1GG, OMIM:613642 Tags
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 Tags
Green List (high evidence)	SDHB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial complex II deficiency, nuclear type 4, OMIM:619224 Tags
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 Tags
Green List (high evidence)	SEC23B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dyserythropoietic anemia, congenital, type II, OMIM:224100 COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies) Tags
Green List (high evidence)	SERAC1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739 Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Green List (high evidence)	SETX	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002 Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433 Tags
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 Tags
Green List (high evidence)	SI	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Disaccharide intolerance 1 (Other carbohydrate disorders) CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY 222900 Tags treatable
Green List (high evidence)	SKIV2L	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Trichohepatoenteric syndrome 2 (Other metabolic disorders) Infantile enterocolitis & monogenic inflammatory bowel disease Tags new-gene-name
Green List (high evidence)	SLC12A3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Gitelman syndrome, OMIM: 263800 Gitelman syndrome, MONDO:0009904 Tags monogenic-polygenic
Green List (high evidence)	SLC16A1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Erythrocyte lactate transporter defect, OMIM:245340 Hyperinsulinemic hypoglycemia, familial, 7, OMIM:610021 Monocarboxylate transporter 1 deficiency, OMIM:616095 Tags
Green List (high evidence)	SLC17A5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Salla disease, OMIM:604369 Sialic acid storage disorder, infantile, OMIM:269920 Tags
Green List (high evidence)	SLC18A2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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) Tags
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 Tags
Green List (high evidence)	SLC19A3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Biotin-responsive basal ganglia disease (Disorders of thiamine metabolism) Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2),607483 Tags
Green List (high evidence)	SLC22A5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Carnitine deficiency, systemic primary, OMIM:212140 systemic primary carnitine deficiency disease, MONDO:0008919 Tags
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 Tags
Green List (high evidence)	SLC25A12	2 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)) Inherited white matter disorders Epileptic encephalopathy, early infantile, 39 612949 Hypomyelination, global cerebral, 612949 Tags
Green List (high evidence)	SLC25A13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Citrullinemia Type 2 (Urea cycle disorders and inherited hyperammonaemias) Citrullinemia, adult-onset type II 603471 Tags
Green List (high evidence)	SLC25A15	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970 HHH syndrome (Urea cycle disorders and inherited hyperammonaemias) Tags
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 Tags
Green List (high evidence)	SLC25A20	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle) Carnitine-acylcarnitine translocase deficiency 212138 Tags
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 Tags
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. Tags
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 Tags
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 Tags
Green List (high evidence)	SLC25A4	1 review	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)) Disorders of mitochondrial DNA maintenance and integrity Disorders of mitochondrial protein transport Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283 Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418 Progressive External Ophthalmoplegia with Mitochondrial DNADeletions Tags
Green List (high evidence)	SLC25A46	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes optic atrophy spectrum disorder Tags
Green List (high evidence)	SLC2A1	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green 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 Tags
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 Tags
Green List (high evidence)	SLC30A10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Phenotypes Hypermanganesemia with dystonia 1, OMIM:613280 Tags treatable
Green List (high evidence)	SLC35A1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) Congenital disorder of glycosylation, type Iif, 603585 CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) Tags
Green List (high evidence)	SLC35A2	3 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes SLC35A2-CDG (other congenital disorders of glycosylation) Intellectual disability Tags
Green List (high evidence)	SLC35C1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature 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) Tags
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) Tags
Green List (high evidence)	SLC37A4	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Glycogen storage disease Ib, OMIM:232220 Glycogen storage disease Ic, OMIM:232240 Congenital disorder of glycosylation, type IIw, OMIM:619525 Tags
Green List (high evidence)	SLC39A14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Radboud University Medical Center, Nijmegen Phenotypes Hypermanganesemia with dystonia 2 617013 Tags treatable
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 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 Tags
Green List (high evidence)	SLC3A1	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cystinuria (Disorders of amino acid transport) Hypotonia-cystinuria syndrome (Disorders of amino acid transport) Renal tract calcification (or Nephrolithiasis/nephrocalcinosis) Tags
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) Tags
Green List (high evidence)	SLC46A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Folate malabsorption, hereditary, OMIM:229050 Hereditary folate malabsorption (Disorders of folate metabolism and transport) Tags
Green List (high evidence)	SLC52A2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Brown-Vialetto-Van Laere syndrome 2 614707 Tags treatable
Green List (high evidence)	SLC52A3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Brown-Vialetto-Van Laere syndrome 1 211530 Fazio-Londe disease 211500 Tags
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 List (high evidence)	SLC6A19	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Hartnup disorder, OMIM:234500 Tags
Green List (high evidence)	SLC6A3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Parkinsonism-dystonia, infantile, 1, 613135 Dopamine transporter deficiency syndrome (Other disorders of neurotransmitter metabolism) Early onset dystonia Intellectual disability Parkinson Disease and Complex Parkinsonism Tags
Green List (high evidence)	SLC6A8	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Creatine transporter deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism) Intellectual disability Tags
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 Tags
Green List (high evidence)	SLC7A9	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cystinuria (Disorders of amino acid transport) Renal tract calcification (or Nephrolithiasis/nephrocalcinosis) Tags
Green List (high evidence)	SMPD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Niemann-Pick disease, type A 257200 Niemann-Pick disease, type B 607616 Tags
Green List (high evidence)	SPG7	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 7, autosomal recessive, OMIM:607259 hereditary spastic paraplegia 7, MONDO:0011803 Tags
Green List (high evidence)	SPR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716 Sepiapterin reductase deficiency (Disorders of pterin metabolism) Tags
Green List (high evidence)	SPTLC1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis) Charcot-Marie-Tooth disease Familial dysautonomia Tags
Green List (high evidence)	SPTLC2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis) Charcot-Marie-Tooth disease Familial dysautonomia Tags
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 Tags
Green List (high evidence)	SSR4	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type Iy 300934 Tags
Green List (high evidence)	ST3GAL3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 15, OMIM:615006 developmental and epileptic encephalopathy, 15, MONDO:0014003 Intellectual developmental disorder, autosomal recessive 12, OMIM:611090 intellectual disability, autosomal recessive 12, MONDO:0012612 Tags
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) Tags
Green List (high evidence)	STS	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes X-linked ichthyosis (Other disorders in the metabolism of sterols) Autosomal recessive congenital ichthyosis Tags
Green List (high evidence)	SUCLA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073 Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of mitochondrial DNA maintenance and integrity Tags
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 Tags
Green List (high evidence)	SUMF1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Multiple sulfatase deficiency 272200 Tags
Green List (high evidence)	SUOX	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Sulfite oxidase deficiency 272300 Tags
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 Tags
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 Tags
Green List (high evidence)	TALDO1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Phenotypes Transaldolase deficiency 606003 Tags
Green List (high evidence)	TANGO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 Tags
Green List (high evidence)	TAT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Tyrosinaemia type II (Disorders of phenylalanine or tyrosine metabolism) Intellectual disability Tags
Green List (high evidence)	TAZ	1 review	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 Tags new-gene-name
Green List (high evidence)	TCN2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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 Tags
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 Tags
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 Tags
Green List (high evidence)	TK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, OMIM:617069 Tags
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 Tags
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 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 Tags
Green List (high evidence)	TPK1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 Tags
Green List (high evidence)	TPP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes CLN2, Jansky-Bielschowsky disease (Ceroid lipfuscinoses, neuronal) Hereditary ataxia Intellectual disability Ceroid lipofuscinosis, neuronal, 2 204500 Tags
Green List (high evidence)	TRAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes VACTERL CAKUT Tags gene-checked
Green List (high evidence)	TREX1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green 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 Tags
Green List (high evidence)	TRIM37	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mulibrey nanism (Other peroxisomal disorders) Mulibrey nanism Tags
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 Tags
Green List (high evidence)	TRNT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes congenital sideroblastic anemia with B cell immunodeficiency, fevers, and developmental delay (SIFD) retinitis pigmentosa with erythrocytic microcytosis Tags
Green 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 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 Tags
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 Tags
Green List (high evidence)	TTC37	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Trichohepatoenteric syndrome 1 (Other metabolic disorders) Infantile enterocolitis & monogenic inflammatory bowel disease Tags new-gene-name
Green List (high evidence)	TTPA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes TTP1 deficiency (Other disorders of vitamins and cofactors) Hereditary ataxia Tags
Green List (high evidence)	TUFM	2 reviews 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 4 610678 Tags
Green List (high evidence)	TUSC3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal recessive 7, OMIM:611093 Tags
Green List (high evidence)	TWNK	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245 (AR) Perrault syndrome 5, OMIM:616138 (AR) Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286 (AD) Tags
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 Tags
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 List (high evidence)	UMOD	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Familial juvenile hyperuricaemic nephropathy (Disorders of purine metabolism) Cystic kidney disease Unexplained kidney failure in young people Tags
Green List (high evidence)	UMPS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Orotic aciduria (Disorders of pyrimidine metabolism) Intellectual disability Orotic aciduria 258900 Tags
Green List (high evidence)	UQCRB	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158 Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Tags
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) Tags
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 List (high evidence)	VARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Combined oxidative phosphorylation deficiency 20, 615917 Tags
Green List (high evidence)	VIPAS39	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404 ARC syndrome Inherited bleeding disorders Tags
Green List (high evidence)	VKORC1	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Vitamin K-dependent clotting factors, combined deficiency of, 2, OMIM:607473 Tags
Green List (high evidence)	VPS33B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes ARC Syndrome (Other metabolic disorders) Arthrogryposis CAKUT Inherited bleeding disorders Unexplained kidney failure in young people Tags
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 Expert Review Green Literature Phenotypes Neurodegeneration with brain iron accumulation 5 300894 Tags
Green List (high evidence)	WFS1	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Wolfram syndrome 1, OMIM:222300 Tags
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) Tags
Green List (high evidence)	XYLT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Desbuquois dysplasia 2, OMIM:615777 Desbuquois dysplasia 2, MONDO:0014343 Tags STR
Green List (high evidence)	XYLT2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spondyloocular syndrome Tags
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 Tags
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 Tags
Amber List (moderate evidence)	COX4I2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 612714 Tags
Amber List (moderate evidence)	CSTB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 Tags nucleotide-repeat-expansion
Amber List (moderate evidence)	DHDDS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Retinitis pigmentosa 59, OMIM:613861 ?Congenital disorder of glycosylation, type 1bb, OMIM:613861 Tags
Amber List (moderate evidence)	GLS	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412 Developmental and epileptic encephalopathy 71, OMIM:618328 ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339 Tags STR watchlist watchlist_moi
Amber List (moderate evidence)	HSPA9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Even-plus syndrome 616854 Tags
Amber List (moderate evidence)	LIPC	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hepatic lipase deficiency, 614025 [High density lipoprotein cholesterol level QTL 12] 612797 {Diabetes mellitus, noninsulin-dependent} 125853 Tags
Amber List (moderate evidence)	MRPS16	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Phenotypes Combined oxidative phosphorylation deficiency 2 610498 Tags
Amber List (moderate evidence)	NDUFB9	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Radboud University Medical Center, Nijmegen Phenotypes ?Mitochondrial complex I deficiency, nuclear type 24 618245 Tags
Amber List (moderate evidence)	OPLAH	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Radboud University Medical Center, Nijmegen Phenotypes 5-oxoprolinase deficiency 260005 Tags
Amber List (moderate evidence)	PDK3	2 reviews 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 Amber Literature Phenotypes ?Charcot-Marie-Tooth disease, X-linked dominant, 6 300905 Tags
Amber List (moderate evidence)	PSPH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Phosphoserine phosphatase deficiency 614023 Tags
Amber List (moderate evidence)	RANBP2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Acute necrotizing encephalopathy (Other metabolic disorders) Tags treatable
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 Tags
Amber List (moderate evidence)	RYR1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Rhabdomyolysis and metabolic muscle disorders Tags
Amber List (moderate evidence)	SDHAF2	2 reviews	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 Tags
Amber List (moderate evidence)	SDHC	2 reviews	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 Tags
Amber List (moderate evidence)	STAT2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes Immunodeficiency 44 616636 Tags
Amber List (moderate evidence)	TH	2 reviews 1 green	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 Tags
Amber List (moderate evidence)	UQCRQ	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial complex III deficiency, nuclear type 4, 615159 Tags
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 Tags
Red List (low evidence)	ABCG2	1 review 1 red	Unknown	Sources Expert Review Red Literature Phenotypes Primary idiopathic gout (Disorders of purine metabolism) [Junior blood group system] 614490 [Uric acid concentration, serum, QTL1] 138900 Tags
Red List (low evidence)	ALG2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Mannosyltransferase 2 deficiency (Disorders of protein N-glycosylation) ?Congenital disorder of glycosylation, type Ii 607906 Myasthenic syndrome, congenital, 14, with tubular aggregates 616228 Tags
Red List (low evidence)	AMPD1	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Myoadenylate deaminase deficiency (Disorders of purine metabolism) Myopathy due to myoadenylate deaminase deficiency 615511 Tags
Red List (low evidence)	AOX1	1 review 1 red	Unknown	Sources Expert Review Red Literature Phenotypes Xanthinuria type II (Disorders of purine metabolism) Tags
Red List (low evidence)	ARSG	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources UKGTN Phenotypes Usher syndrome, type IV 618144 Tags
Red List (low evidence)	ATXN7	2 reviews 1 red	Other	Sources Expert Review Red Literature Phenotypes Spinocerebellar ataxia 7, OMIM:164500 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	BCAT1	1 review 1 red	Unknown	Sources Expert Review Red Literature Phenotypes Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria) Tags
Red List (low evidence)	BCAT2	2 reviews 1 green 1 red	Unknown	Sources Expert Review Red Literature Phenotypes Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria) Tags
Red List (low evidence)	C1GALT1C1	1 review	Other - please specifiy in evaluation comments	Sources Expert Review Red Literature Phenotypes Tn polyagglutination syndrome, somatic 300622 Tags
Red List (low evidence)	CD320	1 review	Unknown	Sources Emory Genetics Laboratory Expert Review Red Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Methylmalonic aciduria due to transcobalamin receptor defect 613646 Methylmalonic aciduria, transient, due to transcobalamin receptor defect 613646 Tags treatable
Red List (low evidence)	CETP	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Familial hyperalphalipoproteinaemia (Disorders of high density lipoprotein metabolism) Hyperalphalipoproteinemia 143470 [High density lipoprotein cholesterol level QTL 10] 143470 Tags
Red List (low evidence)	CLPS	1 review 1 red	Unknown	Sources Expert Review Red Literature Phenotypes Pancreatic colipase deficiency (Other disorders of lipid and lipoprotein metabolism) Tags
Red List (low evidence)	CNDP1	1 review 1 red	Unknown	Sources Expert Review Red Literature Phenotypes Carnosinaemia (Other disorders of peptide metabolism) Tags
Red List (low evidence)	COA5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500 Tags
Red List (low evidence)	COX8A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes ?Mitochondrial complex IV deficiency 220110 Tags
Red List (low evidence)	CYP7A1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Cholesterol 7-alpha-hydroxylase deficiency (Disorders of bile acid biosynthesis) Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency Tags
Red List (low evidence)	DHFR2	1 review 1 red	Unknown	Sources UKGTN Tags
Red List (low evidence)	DLST	2 reviews 1 red	Unknown	Sources Expert Review Red Literature Tags
Red List (low evidence)	DMGDH	1 review 1 red	Unknown	Sources Expert Review Red Literature Phenotypes Dimethylglycinuria (Disorders and variants of enzymes that oxidise xenobiotics other than cytochrome P450) Dimethylglycine dehydrogenase deficiency 605850 Tags
Red List (low evidence)	DPEP1	1 review 1 red	Unknown	Sources Expert Review Red Literature Phenotypes Cysteinylglycinase deficiency (Disorders of the gamma-glutamyl cycle) Tags
Red List (low evidence)	EGF	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hypomagnesaemia type 4, renal (Disorder of magnesium metabolism) Tags
Red List (low evidence)	FOLR2	1 review 1 red	Unknown	Sources UKGTN Tags
Red List (low evidence)	FOLR3	1 review 1 red	Unknown	Sources UKGTN Tags
Red List (low evidence)	FXYD2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Hypomagnesaemia type 2, renal (Disorder of magnesium metabolism) Hypomagnesemia 2, renal 154020 Tags founder-effect
Red List (low evidence)	GALNT12	1 review 1 red	Unknown	Sources Expert Review Red Literature Phenotypes GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies) {Colorectal cancer, susceptibility to, 1} 608812 (GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)) Tags
Red List (low evidence)	GCSH	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Glycine encephalopathy 605899 Glycine encephalopathy 605899 Atypical glycine encephalopathy Infantile glycine encephalopathy Neonatal glycine encephalopathy transient neonatal hyperglycinemia Tags
Red List (low evidence)	GGT1	2 reviews 1 red	Unknown	Sources Expert Review Red Literature Phenotypes Glutathionuria (Disorders of the gamma-glutamyl cycle) Gamma-glutamyl transpeptidase deficiency Tags
Red List (low evidence)	GLS_GCA STR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412 Tags NGS Not Validated STR
Red List (low evidence)	HAL	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Histidinaemia (Disorders of histidine, tryptophan or lysine metabolism) Tags
Red List (low evidence)	HYKK	1 review 1 red	Unknown	Sources Expert Review Red Literature Phenotypes Hydroxylysinuria (Disorders of histidine, tryptophan or lysine metabolism) Tags
Red List (low evidence)	KHK	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Essential fructosuria (Disorders of fructose metabolism) Tags
Red List (low evidence)	LFNG	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) LFNG-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) ?Spondylocostal dysostosis 3, autosomal recessive, 609813 Tags
Red List (low evidence)	LIPI	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias) {Hypertriglyceridemia, susceptibility to}, 145750 Tags
Red List (low evidence)	MRPL12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Red List (low evidence)	MTHFD1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red UKGTN Phenotypes {Spina bifida, folate-sensitive, susceptibility to} 601634 AR {Abruptio placentae, susceptibility to} Tags
Red List (low evidence)	NAT8L	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red UKGTN Phenotypes ?N-acetylaspartate deficiency 614063 Tags
Red List (low evidence)	NDUFA9	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Radboud University Medical Center, Nijmegen Phenotypes Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Leigh syndrome due to mitochondrial complex I deficiency, 256000 Tags
Red List (low evidence)	NT5C	1 review 1 red	Unknown	Sources Expert Review Red Literature Phenotypes Pyrimidine - 5 - nucleotidase deficiency (Disorders of pyrimidine metabolism) Tags
Red List (low evidence)	NUP62	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Radboud University Medical Center, Nijmegen Phenotypes Infantile striatal necrosis (Other metabolic disorders) Striatonigral degeneration, infantile, 271930 Tags founder-effect watchlist
Red List (low evidence)	PDK1	2 reviews 1 red	Unknown	Sources Expert Review Red Literature Radboud University Medical Center, Nijmegen Phenotypes Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) Tags
Red List (low evidence)	PDK2	1 review 1 red	Unknown	Sources Expert Review Red Literature Phenotypes Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) Tags
Red List (low evidence)	PDK4	1 review 1 red	Unknown	Sources Expert Review Red Literature Phenotypes Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) Tags
Red List (low evidence)	PDP2	1 review 1 red	Unknown	Sources Expert Review Red Literature Phenotypes Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) Tags
Red List (low evidence)	PDPR	3 reviews 1 red	Unknown	Sources Expert Review Red Literature Phenotypes Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) Tags
Red List (low evidence)	PDXK	1 review 1 red	Unknown	Sources Expert Review Red Literature Phenotypes Pryridoxal kinase deficiency (Disorders of pyridoxine metabolism) Tags
Red List (low evidence)	PEX11A	1 review 1 red	Unknown	Sources Literature Phenotypes Zellweger syndrome peroxisome proliferation mild peroxisomal biogenesis defect Tags watchlist
Red List (low evidence)	PHKG1	1 review 1 red	Unknown	Sources Expert Review Red UKGTN Tags
Red List (low evidence)	PHYKPL	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hydroxylysinuria (Disorders of histidine, tryptophan or lysine metabolism) [?Phosphohydroxylysinuria] 615011 Tags
Red List (low evidence)	PNLIP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Pancreatic triacylglycerol lipase deficiency (Other disorders of lipid and lipoprotein metabolism) Pancreatic lipase deficiency 614338 Tags watchlist
Red List (low evidence)	PPM1B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hypotonia-cystinuria syndrome (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Red List (low evidence)	PPM1K	1 review 1 red	Unknown	Sources Expert Review Red UKGTN Phenotypes ?Maple syrup urine disease, mild variant 615135 Tags
Red List (low evidence)	PREPL	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hypotonia-cystinuria syndrome (Disorders of amino acid transport) Hypotonia-cystinuria syndrome 606407 Tags deletions
Red List (low evidence)	PTPRZ1	1 review 1 red	Unknown	Sources Expert Review Red Literature Phenotypes Hyperlysinaemia (Disorders of histidine, tryptophan or lysine metabolism) {H. pylori infection, susceptibility to} 600263 Tags
Red List (low evidence)	RNASEH2A	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS4 Inherited white matter disorders Intellectual disability Intracerebral calcification disorders Tags
Red List (low evidence)	RNASEH2B	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Aicardi-Goutieres syndrome 2, OMIM:610181 Tags
Red List (low evidence)	RNASEH2C	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS3 Inherited white matter disorders Intellectual disability Intracerebral calcification disorders Tags
Red List (low evidence)	SARDH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Sarcosinaemia (Disorders of serine, glycine or glycerate metabolism) [Sarcosinemia] 268900 Tags
Red List (low evidence)	SCARB1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Scavenger receptor class B type I deficiency (Inherited hypolipidaemias) [High density lipoprotein cholesterol level QTL6] 610762 Tags
Red List (low evidence)	SHPK	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Sedoheptulokinase deficiency (Other metabolic disorders) [Sedoheptulokinase deficiency] 617213 Tags
Red List (low evidence)	SLC22A4	1 review 1 red	Unknown	Sources Literature Phenotypes {Rheumatoid arthritis, susceptibility to} 180300 Tags
Red List (low evidence)	SLC25A2	1 review 1 red	Unknown	Sources Expert Review Red Literature Phenotypes Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism) Tags
Red List (low evidence)	SLC27A5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Bile acid CoA ligase deficiency (Disorders of bile acid biosynthesis) Tags
Red List (low evidence)	SLC36A2	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Hyperglycinuria 138500 AD Iminoglycinuria, digenic 242600 AR Hyperglycinuria 138500 Iminoglycinuria, digenic 242600 Tags monogenic-polygenic
Red List (low evidence)	SLC52A1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red UKGTN Phenotypes Riboflavin deficiency 615026 Tags
Red List (low evidence)	SLC6A20	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Hyperglycinuria 138500 Iminoglycinuria, digenic 242600 Tags refuted
Red List (low evidence)	SLCO1B1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Hyperbilirubinemia, Rotor type, digenic 237450 Tags polygenic
Red List (low evidence)	SLCO1B3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Hyperbilirubinemia, Rotor type, digenic 237450 Tags
Red List (low evidence)	SUCLG2	1 review 1 red	Unknown	Sources Expert Review Red Literature Phenotypes Succinyl-CoA synthetase deficiency (Other metabolic disorders) Tags
Red List (low evidence)	SUGCT	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Glutaric aciduria type III (Organic acidurias) Glutaric aciduria type III 231690 Tags
Red List (low evidence)	TCN1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Haptocorrin deficiency (Disorders of cobalamin absorption, transport and metabolism) No OMIM number Tags
Red List (low evidence)	TDO2	1 review 1 red	Unknown	Sources Expert Review Red Literature Phenotypes Tryptophanaemia (Disorders of histidine, tryptophan or lysine metabolism) No OMIM number Tags
Red List (low evidence)	TM6SF2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes non-alcoholic fatty liver disease Tags
Red List (low evidence)	TMEM126A	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Optic atrophy 7 612989 Tags
Red List (low evidence)	TPMT	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Thiopurine S-methyltransferase deficiency (Disorders of purine metabolism) {Thiopurines, poor metabolism of, 1} 610460 Tags pharmacogenetics
Red List (low evidence)	TREH	1 review 1 red	Unknown	Sources Expert Review Red Literature Phenotypes Trehalase deficiency (Other carbohydrate disorders) Tags
Red List (low evidence)	UPB1	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Beta-ureidopropionase deficiency (Disorders of pyrimidine metabolism) Beta-ureidopropionase deficiency 613161 Tags
Red List (low evidence)	USF1	1 review 1 red	Unknown	Sources Expert Review Red Literature Phenotypes Familial combined hyperlipoproteinaemia (Inherited mixed hyperlipidaemias) Tags
No list	ATXN7_CAG STR	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Removed NHS GMS Phenotypes Spinocerebellar ataxia 7, OMIM:164500 Tags curated_removed STR
No list	HIBADH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes organic aciduria Tags

Major version comments

Construction of “Undiagnosed Metabolic Disorders” (UDM) panel
• The 614 genes from the neurometabolic gene panel (PMID: 27604308) added
• Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel)
• Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype)
• Used variant information from PMID 27604308 to review the genes on this panel
• Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before
• Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green
• Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews)
• Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added

Undiagnosed metabolic disorders (Version 1.642)

22 reviewers

755 Entities

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