Inborn errors of metabolism (Version 2.105)

The latest signed off version for the GMS is v2.104. The current version, shown here, may differ from the signed-off version.

Description

This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service; the panel will routinely be applied for clinical indication 'R98 Likely inborn error of metabolism - targeted testing not possible' but can also be used as part of the analysis for a broader clinical presentation, where relevant.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R98 Likely inborn error of metabolism - targeted testing not possible'.

The content of this panel (version 2.104: https://panelapp.genomicsengland.co.uk/api/v1/panels/467/?version=2.104) was signed off under NHS Genomic Medicine Service governance on (16/12/2021).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated version number.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.

This panel is also a constituent panel of super panel 'White matter disorders - childhood onset', 'Hypotonic infant' and 'Paediatric disorders'. Changes made to this panel will automatically be updated in the relevant super panel(s).

This panel was originally created from the following panels:
- Undiagnosed metabolic disorders (v1.82 code 302)
- Mitochondrial disorders (v1.75 code 112)
- Congenital disorders of glycosylation (v1.20 code 25)

Panel Activity

22 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Katherine Smith (Genomics England)

Group: Other
Workplace: Other
Carl Fratter (Oxford University Hospitals NHS Trust)

Group: GeCIP domain
Workplace: NHS diagnostic lab
Richard Scott (Genomics England Curator)

Group: Other
Workplace: Other
Ellen Thomas (Genomics England Curator)

Group: Other
Workplace: Other
Shamima Rahman (UCL Institute of Child Health)

Group: GeCIP domain
Workplace: NHS clinical service
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
Anna de Burca (Genomics England Curator)

Group: NHS Genomic Medicine Centre
Workplace: NHS 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
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

903 Entities

757 reviewed, 698 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 903 Entitiess
Green Green List (high evidence)	AARS2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS 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 Green List (high evidence)	AASS	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hyperlysinemia, OMIM:238700 Hyperlysinemia (disease), MONDO:0009388 Tags
Green Green List (high evidence)	ABAT	5 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes 613163 GABA transaminase deficiency (Disorders of neurotransmitter metabolism, gamma-aminobutyrate) mtDNA depletion syndrome Tags
Green Green List (high evidence)	ABCA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Tangier disease (Disorders of high density lipoprotein metabolism) Tags
Green Green List (high evidence)	ABCB11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Progressive familial intrahepatic cholestasis type 2 (Disorders of bile acid metabolism and transport) Cholestasis, benign recurrent intrahepatic, 2 605479 Cholestasis, progressive familial intrahepatic 2 601847 Tags
Green Green List (high evidence)	ABCB4	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Gallbladder disease 1 600803 AD, AR Cholestasis, progressive familial intrahepatic 3 602347 AR Progressive familial intrahepatic cholestasis type 3 (Disorders of bile acid metabolism and transport) Cholestasis, intrahepatic, of pregnancy, 3 614972 AD, AR Tags
Green Green List (high evidence)	ABCB7	4 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London North GLH NHS GMS Phenotypes Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) congenital cerebellar hypoplasia/atrophy (PMID: 26242992). Anemia, sideroblastic, with ataxia Disorders of iron homeostasis Tags
Green Green List (high evidence)	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 London North GLH NHS GMS Phenotypes X-linked adrenoleukodystrophy (Disorders of peroxisomal alpha-, beta and omega-oxidation) Adrenoleukodystrophy 300100 Tags
Green Green List (high evidence)	ABCD4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Methylmalonic aciduria and homocystinuria, cblJ type Tags
Green Green List (high evidence)	ABCG5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Sitosterolaemia (Inherited hypercholesterolaemias) Familial hypercholesterolaemia Tags
Green Green List (high evidence)	ABCG8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Sitosterolaemia (Inherited hypercholesterolaemias) Familial hypercholesterolaemia Tags
Green Green List (high evidence)	ABHD12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hereditary ataxia Posterior segment abnormalities Congenital hearing impairment (profound/severe) PHARC syndrome (Disorders of complex lipid synthesis) Tags
Green Green List (high evidence)	ABHD5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Chanarin-Dorfman syndrome 275630 Neutral lipid storage disease (Disorders of lipolysis) Tags
Green Green List (high evidence)	ACAD8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Isobutyric aciduria (Organic acidurias) Tags
Green Green List (high evidence)	ACAD9	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial complex I deficiency due to ACAD9 deficiency ACAD9 deficiency, 611126 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Isolated complex I deficiency Tags
Green Green List (high evidence)	ACADM	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Acyl-CoA dehydrogenase, medium chain, deficiency of Medium - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation) Tags
Green Green List (high evidence)	ACADS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Acyl-CoA dehydrogenase, short-chain, deficiency of Tags
Green Green List (high evidence)	ACADSB	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes 2-methylbutyrylglycinuria 610006 2-Methylbutyric aciduria (Organic acidurias) Tags
Green Green List (high evidence)	ACADVL	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes VLCAD deficiency Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation) Tags
Green Green List (high evidence)	ACAT1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Cytosolic acetoacetyl-CoA thiolase deficiency (Disorders of ketone body metabolism) Fasting intolerance with acidosis, ? residual neurological problems 3-Oxothiolase deficiency (Organic acidurias) Tags
Green Green List (high evidence)	ACO2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Infantile cerebellar-retinal degeneration, 614559 Tags
Green Green List (high evidence)	ACOX1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Peroxisomal acyl-CoA oxidase deficiency Peroxisomal acyl-CoA oxidase 1 deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation) Tags
Green Green List (high evidence)	ACSF3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Combined methylmalonic and malonic aciduria (Organic acidurias) Combined malonic and methylmalonic aciduria Tags
Green Green List (high evidence)	ACY1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability Aminoacylase 1 deficiency (Organic acidurias) Tags
Green Green List (high evidence)	ADA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Combined B and T cell defect Adenosine deaminase deficiency (Disorders of purine metabolism) SCID Infantile enterocolitis & monogenic inflammatory bowel disease Tags
Green Green List (high evidence)	ADAR	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Aicardi-Goutieres syndrome 6 Tags
Green Green List (high evidence)	ADSL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability Epileptic encephalopathy Adenylosuccinate lyase deficiency (Disorders of purine metabolism) Tags
Green Green List (high evidence)	AFG3L2	3 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Ataxia, spastic, 5, autosomal recessive, 614487 Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Spinocerebellar ataxia 28, 610246 Disorders of mitochondrial DNA maintenance and integrity Tags
Green Green List (high evidence)	AGA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Aspartylglucosaminuria Tags
Green Green List (high evidence)	AGK	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Mitochondrial DNA depletion syndrome 10 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Acylglycerol kinase deficiency (Senger syndrome) (Disorders of complex lipid synthesis) Sengers syndrome, 212350 Sengers syndrome 212350 Disorders of mitochondrial lipid metabolism Cataract 38, autosomal recessive, 614691 Tags
Green Green List (high evidence)	AGL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glycogen storage disease type III, Cori (Glycogen storage disorders) Glycogen storage disease IIIb, 232400 Glycogen Storage Disorders- Liver Glycogen Storage Disease myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance Glycogen Storage Disease Type III Glycogen Storage Disorders- Muscle Glycogen storage disease IIIa, 232400 Tags
Green Green List (high evidence)	AGPS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Rhizomelic chondrodysplasia punctata, type 3 600121 Rhizomelic chondrodysplasia punctata type 3 (Peroxisomal disorders) Tags
Green Green List (high evidence)	AGXT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Primary hyperoxaluria type I (Other peroxisomal disorders) Primary hyperoxaluria type I (Disorders of glyoxylate metabolism) Hyperoxaluria, primary, type 1 Tags
Green Green List (high evidence)	AIFM1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London North GLH NHS GMS Phenotypes Disorders of mitochondrial apoptosis Cowchock syndrome, 310490 Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Combined oxidative phosphorylation deficiency 6, 300816 Tags
Green Green List (high evidence)	AKR1D1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes ?4-3-oxysterol 5?-reductase deficiency (Disorders of bile acid biosynthesis) Bile acid synthesis defect, congenital, 2 235555 Tags
Green Green List (high evidence)	ALAD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes {Lead poisoning, susceptibility to} 612740 Acute hepatic porphyria (Acute neuropathic porphyrias) Porphyria, acute hepatic 612740 Tags
Green 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 list Expert Review Green London North GLH NHS GMS Phenotypes Erythropoietic protoporphyria, mild variant X-linked sideroblastic anaemia (XLSA) (Porphyrias with acute painful photosensitivity) X-linked dominant protoporphyria (Porphyrias with acute painful photosensitivity) Tags
Green Green List (high evidence)	ALDH18A1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS Phenotypes Hypoprolinaemia, Cutis laxa, autosomal recessive, type IIIa (Disorders of ornithine or proline metabolism) Cutis laxa, autosomal recessive, type IIIA (Delta-1-pyrroline 5 carboxylic acid synthetase deficiency) 219150 Tags
Green Green List (high evidence)	ALDH3A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability Sj gren - Larsson syndrome (Other disorders of lipid and lipoprotein metabolism) Inherited white matter disorders Tags
Green Green List (high evidence)	ALDH4A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability Hyperprolinaemia type II (Disorders of ornithine or proline metabolism) Hyperprolinemia, type II Tags
Green Green List (high evidence)	ALDH5A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Succinic semialdehyde dehydrogenase deficiency Tags
Green Green List (high evidence)	ALDH6A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Methylmalonate semialdehyde dehydrogenase deficiency 614105 3-Hydroxyisobutyric aciduria (Organic acidurias) Methylmalonate semialdehyde dehydrogenase deficiency (Organic acidurias) Tags
Green Green List (high evidence)	ALDH7A1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Epilepsy, pyridoxine-dependent Tags
Green Green List (high evidence)	ALDOA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glycogen Storage Disease Aldolase A deficiency (Glycogen storage disorders) Glycogen storage disease XII, 611881 Tags
Green Green List (high evidence)	ALDOB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes hereditary fructose intolerance Hereditary fructose intolerance (Disorders of fructose metabolism) acidosis with ketototic hypoglycaemia often hepatomegaly in acute presentation Tags
Green Green List (high evidence)	ALG1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mannosyltransferase 1 deficiency (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type Ik 608540 Tags
Green Green List (high evidence)	ALG11	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes ALG11-CDG (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type Ip 613661 Tags
Green Green List (high evidence)	ALG12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Congenital disorder of glycosylation, type Ig 607143 Mannosyltransferase 8 deficiency (Disorders of protein N-glycosylation) Tags
Green Green List (high evidence)	ALG3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mannosyltransferase 6 deficiency ALG3-CDG (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type Id 601110 Mannosyltransferase 6 deficiency (Disorders of protein N-glycosylation) ALG3-CDG (Disorders of protein N-glycosylation) Tags
Green Green List (high evidence)	ALG6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Congenital disorder of glycosylation, type Ic 603147 Glucosyltransferase 1 deficiency (Disorders of protein N-glycosylation) Tags
Green Green List (high evidence)	ALG8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glucosyltransferase 2 deficiency (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type Ih 608104 Tags
Green Green List (high evidence)	ALG9	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mannosyltransferase 7-9 deficiency (Disorders of protein N-glycosylation) ALG9-CDG (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type Il 608776 Tags
Green Green List (high evidence)	ALPL	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hypophosphatasia, adult 146300 Hypophosphatasia, childhood 241510 Hypophosphatasia, infantile241500 Odontohypophosphatasia 146300 Tags
Green Green List (high evidence)	AMACR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Alpha-methylacyl-CoA racemase deficiency Alpha-methylacyl-CoA racemase deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation) Tags
Green Green List (high evidence)	AMN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intrinsic factor receptor deficiency due to AMN mutations (Disorders of cobalamin absorption, transport and metabolism) Proteinuric renal disease Unexplained kidney failure in young people Tags
Green Green List (high evidence)	AMT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glycine encephalopathy Tags
Green Green List (high evidence)	ANO10	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 10, 613728 Tags
Green Green List (high evidence)	APOA1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Corneal clouding, autosomal recessive Apolipoprotein A-I deficiency (Disorders of high density lipoprotein metabolism) ApoA-I and apoC-III deficiency, combined Amyloidosis, 3 or more types 105200 Hypoalphalipoproteinemia 604091 Tags
Green Green List (high evidence)	APOA5	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hyperchylomicronemia, late-onset 144650 Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias) {Hypertriglyceridemia, susceptibility to} 145750 Tags
Green Green List (high evidence)	APOB	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hypercholesterolemia, familial, 2 144010 Hypobetalipoproteinemia 615558 Tags
Green Green List (high evidence)	APOC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hyperlipoproteinemia, type Ib 207750 Familial apolipoprotein C - II deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias) Tags
Green Green List (high evidence)	APOE	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Familial dysbetalipoproteinaemia (Inherited mixed hyperlipidaemias) Hyperlipoproteinemia, type III 617347 Sea-blue histiocyte disease 269600 Lipoprotein glomerulopathy 611771 Tags
Green Green List (high evidence)	APOPT1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex IV deficiency, 220110 Isolated complex IV deficiency Tags new-gene-name
Green Green List (high evidence)	APRT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Adenine phosphoribosyltransferase deficiency 614723 Adenine phosphoribosyl transferase deficiency (Disorders of purine metabolism) Tags
Green Green List (high evidence)	APTX	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Ataxia with oculomotor apraxia 1 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 Disorders of ubiquinone metabolism and biosynthesis Tags
Green Green List (high evidence)	ARG1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Argininaemia (Urea cycle disorders and inherited hyperammonaemias) Argininemia 207800 Tags
Green Green List (high evidence)	ARSA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Metachromatic leukodystrophy Tags
Green Green List (high evidence)	ARSB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 6 Mucopolysaccharidosis, Type VI Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 Mucopolysaccharidosis Type VI MPS VI, Maroteaux - Lamy disease (MPS IV, Morquio disease) Tags
Green 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 Green List (high evidence)	ASAH1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Spinal muscular atrophy with progressive myoclonic epilepsy 159950, Farber lipogranulomatosis 228000, Fetal hydrops, Intellectual disability Tags
Green Green List (high evidence)	ASL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Argininosuccinic aciduria Argininosuccinic aciduria (Urea cycle disorders and inherited hyperammonaemias) Tags
Green Green List (high evidence)	ASPA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Canavan disease Tags
Green Green List (high evidence)	ASS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Citrullinaemia type1 (Urea cycle disorders and inherited hyperammonaemias) Citrullinemia Tags
Green Green List (high evidence)	ATAD3A	5 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Harel-Yoon syndrome 617183 Tags
Green Green List (high evidence)	ATIC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability AICAR transformylase deficiency (Disorders of purine metabolism) Tags
Green Green List (high evidence)	ATP13A2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Kufor-Rakeb syndrome Tags
Green Green List (high evidence)	ATP5D	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex V (ATP synthase) deficiency, 618120 Tags new-gene-name
Green Green List (high evidence)	ATP6AP1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Immunodeficiency 47 Tags
Green Green List (high evidence)	ATP6V0A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes V0 subunit A2 of vesicular H(+)-ATPase deficiency (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies) Cutis laxa, autosomal recessive, type IIA 21920 Wrinkly skin syndrome 278250 Tags
Green Green List (high evidence)	ATP7A	3 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London North GLH NHS GMS Phenotypes Menkes disease Tags
Green Green List (high evidence)	ATP7B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Wilson disease Tags
Green Green List (high evidence)	ATP8B1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Cholestasis, progressive familial intrahepatic 1 211600 Cholestasis, benign recurrent intrahepatic 243300 AR Cholestasis, intrahepatic, of pregnancy, 1 147480 AD Byler disease (Disorders of bile acid metabolism and transport) Tags
Green Green List (high evidence)	ATPAF2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Mitochondrial Diseases Isolated complex V deficiency Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type Tags
Green Green List (high evidence)	AUH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes 3-methylglutaconic aciduria, type I Methylglutaconic aciduria type I (Organic acidurias) Tags
Green Green List (high evidence)	B3GALNT2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 Tags
Green Green List (high evidence)	B3GALT6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ehlers-Danlos syndrome, progeroid type, 2 Tags
Green Green List (high evidence)	B3GAT3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600 B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Tags
Green Green List (high evidence)	B3GLCT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Peters-plus syndrome 261540 O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Tags
Green Green List (high evidence)	B4GALT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Beta-1,4-galactosyltransferase 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways) Congenital disorder of glycosylation, type IId 607091 Tags
Green Green List (high evidence)	B4GALT7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Ehlers-Danlos syndrome with short stature and limb anomalies 130070 B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies, Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Beta-1,4-galactosyltransferase 7 deficiency (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) Tags
Green Green List (high evidence)	BAAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hypercholanemia, familial Tags
Green Green List (high evidence)	BCAT2	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria) Tags treatable
Green Green List (high evidence)	BCKDHA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Maple syrup urine disease, type Ia BCKD E1 alpha subunit of deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria) Tags
Green Green List (high evidence)	BCKDHB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Maple syrup urine disease, type Ib BCKD E1 beta subunit of deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria) Tags
Green Green List (high evidence)	BCKDK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Branched-chain ketoacid dehydrogenase kinase deficiency Tags
Green Green List (high evidence)	BCS1L	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Mitochondrial Diseases Isolated complex III deficiency Mitochondrial Respiratory Chain Complex III Deficiency Mitochondrial complex III deficiency, nuclear type 1, 124000 Leigh syndrome, 256000 Bjornstad syndrome, 262000 GRACILE syndrome, 603358 Tags
Green Green List (high evidence)	BOLA3	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hyperglycinaemia, non-ketotic (Baker (2014) Brain 137,366) Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Multiple mitochondrial dysfunctions syndrome 2, 614299 Multiple Mitochondrial Dysfunctions Syndrome Disorders of iron homeostasis Tags
Green Green List (high evidence)	BTD	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Biotinidase deficiency (Disorders of biotin metabolism) Biotinidase deficiency lactic acidosis with seizures and eczema,immune deficiency Tags
Green Green List (high evidence)	C12orf65	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS 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 paraplegia 55, autosomal recessive, 615035 Combined oxidative phosphorylation deficiency 7, 613559 Tags new-gene-name
Green Green List (high evidence)	C19orf12	6 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism) Neurodegeneration with brain iron accumulation 4, 614298 Mitochondrial Membrane Protein-Associated Neurodegeneration Tags
Green Green List (high evidence)	C19orf70	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 37, 618329 Tags new-gene-name
Green Green List (high evidence)	C1QBP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 33 617713 Tags
Green Green List (high evidence)	CA5A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hyperammonemia due to carbonic anhydrase VA deficiency Hyperammonemia (Urea cycle disorders and inherited hyperammonaemias) Tags
Green Green List (high evidence)	CARS2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) No OMIM phenotype Combined oxidative phosphorylation deficiency 27 616672 Tags
Green Green List (high evidence)	CAT	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Acatalasaemia (Other peroxisomal disorders) Acatalasemia, 614097 Tags
Green Green List (high evidence)	CBS	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Homocystinuria, B6-responsive and nonresponsive types Tags
Green Green List (high evidence)	CCDC115	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIo 616828 Tags
Green Green List (high evidence)	CHCHD10	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 ?Myopathy, isolated mitochondrial, autosomal dominant, 616209 Spinal muscular atrophy, Jokela type Tags
Green Green List (high evidence)	CHKB	6 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Choline kinase deficiency (Disorders of complex lipid synthesis) Muscular dystrophy, congenital, megaconial type, 602541 Tags
Green Green List (high evidence)	CHST14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1 601776 CHST14-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Tags
Green Green List (high evidence)	CHST3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations 143095 CHST3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Tags
Green Green List (high evidence)	CHST6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes CHST6-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Macular corneal dystrophy 217800 Tags
Green Green List (high evidence)	CHSY1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Temtamy preaxial brachydactyly syndrome 605282 CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Tags
Green Green List (high evidence)	CISD2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Wolfram syndrome 2 604928 Tags
Green Green List (high evidence)	CLDN16	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hypomagnesemia 3, renal 248250 Tags
Green Green List (high evidence)	CLDN19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hypomagnesemia 5, renal, with ocular involvement 248190 Tags
Green Green List (high evidence)	CLN3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Ceroid lipofuscinosis, neuronal, 3, 204200 Tags
Green Green List (high evidence)	CLN5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Ceroid lipofuscinosis, neuronal, 5, 256731 Tags
Green Green List (high evidence)	CLN6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Ceroid lipofuscinosis, neuronal, 6, 601780 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 Tags
Green Green List (high evidence)	CLN8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Ceroid lipofuscinosis, neuronal, 8 Tags
Green Green List (high evidence)	CLPB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 3-methylglutaconic aciduria with the following: cataract, renal cysts and nephrocalcinosis cataract, neutropenia, epilepsy congenital microcephaly and severe encephalopathy progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder Tags
Green Green List (high evidence)	CLPP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Perrault syndrome 3, 614129 Tags
Green Green List (high evidence)	CNNM2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hypomagnesaemia type 6, renal (Disorder of magnesium metabolism) Hypomagnesemia 6, renal 613882 Hypomagnesemia, seizures, and mental retardation 616418 Tags
Green Green List (high evidence)	COA6	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes ?{Fatal infantile cardiomyopathy, association with}, 604377 Tags
Green Green List (high evidence)	COA7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Tags
Green Green List (high evidence)	COG1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Component of COG complex 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) Congenital disorder of glycosylation, type IIg 611209 Tags
Green Green List (high evidence)	COG4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Component of COG complex 4 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) Congenital disorder of glycosylation, type IIj 613489 Tags
Green Green List (high evidence)	COG5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Congenital disorder of glycosylation, type IIi 613612 Component of COG complex 5 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) Tags
Green Green List (high evidence)	COG6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Component of COG complex 6 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) Shaheen syndrome 615328 Congenital disorder of glycosylation, type IIl 614576 Tags
Green Green List (high evidence)	COG7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Component of COG complex 7 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) Congenital disorder of glycosylation, type IIe 608779 Tags
Green Green List (high evidence)	COG8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Congenital disorder of glycosylation, type IIh 611182 Component of COG complex 8 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) Tags
Green Green List (high evidence)	COQ2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes {Multiple system atrophy, susceptibility to}, 146500 Coenzyme Q10 deficiency Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of ubiquinone metabolism and biosynthesis Coenzyme Q10 deficiency, primary, 1, 607426 Tags
Green Green List (high evidence)	COQ4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of ubiquinone metabolism and biosynthesis Coenzyme Q10 deficiency, primary, 7 Tags
Green Green List (high evidence)	COQ6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Coenzyme Q10 deficiency, primary, 6, 614650 Steroid-resistant nephrotic syndrome Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of ubiquinone metabolism and biosynthesis Tags
Green Green List (high evidence)	COQ7	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes ?Coenzyme Q10 deficiency, primary, 8 616733 Tags
Green Green List (high evidence)	COQ8A	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Coenzyme Q10 deficiency Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of ubiquinone metabolism and biosynthesis Coenzyme Q10 deficiency, primary, 4, 612016 Tags
Green Green List (high evidence)	COQ8B	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Nephrotic syndrome, type 9 Tags
Green Green List (high evidence)	COQ9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Coenzyme Q10 deficiency, primary, 5, 614654 Coenzyme Q10 deficiency Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of ubiquinone metabolism and biosynthesis Tags
Green Green List (high evidence)	COX10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome coxidase deficiency Mitochondrial Diseases Mitochondrial Respiratory Chain Complex IV Deficiency Isolated complex IV deficiency Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Tags
Green Green List (high evidence)	COX14	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial complex IV deficiency, 220110 Isolated complex IV deficiency Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Tags
Green Green List (high evidence)	COX15	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial Diseases Mitochondrial Respiratory Chain Complex IV Deficiency Isolated complex IV deficiency Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Leigh syndrome due to cytochrome c oxidase deficiency, 256000 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 Tags
Green Green List (high evidence)	COX20	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial complex IV deficiency, 220110 Isolated complex IV deficiency Complex IV Mitochondrial respiratory chain disorders caused by nuclear variants only OXPHOS assembly factors Tags
Green Green List (high evidence)	COX6A1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Charcot-Marie-Tooth disease, recessive intermediate D, 616039 Tags
Green Green List (high evidence)	COX6B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051 Tags
Green Green List (high evidence)	COX7B	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green London North GLH NHS GMS Phenotypes Isolated complex IV deficiency Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Linear skin defects with multiple congenital anomalies Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies, 300887 MICROPHTHALMIA WITH LINEAR SKIN LESIONS Tags
Green Green List (high evidence)	CP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Cerebellar ataxia, 604290 Hemosiderosis, systemic, due to aceruloplasminemia, 604290 Tags
Green Green List (high evidence)	CPOX	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Harderoporphyria 121300 Coproporphyria 121300 Hereditary coproporphyria (Acute neuropathic porphyrias) Tags
Green Green List (high evidence)	CPS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Carbamoylphosphate synthetase I deficiency Carbamoylphosphate synthetase I deficiency (Urea cycle disorders and inherited hyperammonaemias) Tags
Green Green List (high evidence)	CPT1A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Carnitine palmitoyltransferase I (CPTI) deficiency (Disorders of carnitine transport and the carnitine cycle) CPT deficiency, hepatic, type IA Tags
Green Green List (high evidence)	CPT2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes CPT deficiency, hepatic, type II 600649 CPT II deficiency, lethal neonatal 608836 Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle) Tags
Green Green List (high evidence)	CTH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Cystathioninuria, 219500 Tags
Green Green List (high evidence)	CTNS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Cystinosis, atypical nephropathic Tags
Green Green List (high evidence)	CTSA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Galactosialidosis Tags
Green Green List (high evidence)	CTSC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Haim-Munk syndrome 245010 Papillon-Lefevre syndrome 245000 Periodontitis 1, juvenile 170650 Tags
Green Green List (high evidence)	CTSD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Ceroid lipofuscinosis, neuronal, 10, 610127 Tags
Green Green List (high evidence)	CTSK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Pycnodysostosis Tags
Green Green List (high evidence)	CUBN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intrinsic factor receptor deficiency due to CUBN mutations (Disorders of cobalamin absorption, transport and metabolism) Megaloblastic anemia-1, Finnish type Proteinuric renal disease Unexplained kidney failure in young people Tags
Green Green List (high evidence)	CYC1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Isolated complex III deficiency Mitochondrial complex III deficiency, nuclear type 6, 615453 Tags
Green Green List (high evidence)	CYP27A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Cerebrotendinous xanthomatosis, 213700 Tags
Green Green List (high evidence)	CYP7B1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Bile acid synthesis defect, congenital, 3 613812 Spastic paraplegia 5A, autosomal recessive 270800 Tags treatable
Green Green List (high evidence)	D2HGDH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes D-2-hydroxyglutaric aciduria Tags
Green Green List (high evidence)	DARS	7 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity Tags new-gene-name
Green Green List (high evidence)	DARS2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green Green List (high evidence)	DBH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Dopamine beta-hydroxylase deficiency Tags
Green Green List (high evidence)	DBT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Dihydrolipoamide branched chain transacylase deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria) Maple syrup urine disease, type II Tags
Green Green List (high evidence)	DCXR	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes [Pentosuria] 260800 Tags
Green Green List (high evidence)	DDC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Aromatic L-amino acid decarboxylase deficiency, OMIM:608643 Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084 Tags
Green Green List (high evidence)	DGUOK	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Deoxyguanosine kinase deficiency (Disorders of purine metabolism) Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 Mitochondrial DNA Depletion Syndrome Disorders of mitochondrial DNA maintenance and integrity Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green Green List (high evidence)	DHCR24	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Desmosterolosis 602398 Tags
Green Green List (high evidence)	DHCR7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability IUGR and IGF abnormalities Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis) Disorders of sex development Cataracts Tags
Green Green List (high evidence)	DHFR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Dihydrofolate reductase deficiency (Disorders of folate metabolism and transport) Megaloblastic anemia due to dihydrofolate reductase deficiency Tags
Green Green List (high evidence)	DHODH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Miller syndrome 263750 Tags
Green Green List (high evidence)	DHTKD1	6 reviews 1 green 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes 2-Oxoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism) 2-Aminoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism) 2-aminoadipic and 2-oxoadipic aciduria, 204750 Tags
Green Green List (high evidence)	DLAT	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Dihydrolipoyl transacetylase deficiency (Disorders of pyruvate metabolism) Pyruvate dehydrogenase E2 deficiency, 245348 Tags
Green Green List (high evidence)	DLD	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Dihydrolipoyl dehydrogenase deficiency (Disorders of pyruvate metabolism) Leigh syndrome Dihydrolipoamide dehydrogenase deficiency, 246900 Tags
Green Green List (high evidence)	DMPK_CTG STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Myotonic dystrophy 1 160900 Tags STR
Green Green List (high evidence)	DNA2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 615156 Disorders of mitochondrial DNA maintenance and integrity Tags
Green Green List (high evidence)	DNAJC12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 Tags
Green Green List (high evidence)	DNAJC19	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes 3-methylglutaconic aciduria, type V, 610198 Disorders of the mitochondrial import system 3-methylglutaconic aciduria, type V Tags
Green Green List (high evidence)	DNAJC5	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350 Tags
Green Green List (high evidence)	DNM1L	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388 Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green Green List (high evidence)	DNM2	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Centronuclear myopathy 1 160150 Charcot-Marie-Tooth disease, axonal type 2M 606482 Charcot-Marie-Tooth disease, dominant intermediate B 606482 Tags
Green Green List (high evidence)	DOLK	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Congenital disorder of glycosylation, type Im 610768 Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) Tags
Green Green List (high evidence)	DPAGT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Myasthenic syndrome, congenital, 13, with tubular aggregates 614750 UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type Ij 608093 Tags
Green Green List (high evidence)	DPM1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Congenital disorder of glycosylation, type Ie 608799 GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) Tags
Green Green List (high evidence)	DPM2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type Iu 615042 Congenital disorder of glycosylation, type Iu 615042 Tags
Green Green List (high evidence)	DPM3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937 Tags
Green Green List (high evidence)	DPYD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Dihydropyrimidine dehydrogenase deficiency 274270 Dihydropyrimidine dehydrogenase deficiency (Disorders of pyrimidine metabolism) Tags
Green Green List (high evidence)	DPYS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Dihydropyrimidinase deficiency (Disorders of pyrimidine metabolism) Tags
Green Green List (high evidence)	DYM	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388 Dyggve-Melchior-Clausen disease, 223800 Smith-McCort dysplasia, 607326 Tags
Green Green List (high evidence)	EARS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 12, 614924 Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Green Green List (high evidence)	EBP	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 London North GLH NHS GMS Phenotypes MEND syndrome 300960 XLR Chondrodysplasia punctata, X-linked dominant 302960 XLD X-linked dominant chondrodysplasia punctata 2 (Disorders of sterol biosynthesis) Tags
Green Green List (high evidence)	ECHS1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency Tags
Green Green List (high evidence)	ELAC2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes infantile hypertrophic cardiomyopathy, lactic acidosis, and isolated complex I deficiency Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Combined oxidative phosphorylation deficiency 17, 615440 Tags
Green Green List (high evidence)	ENO3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes ?Glycogen storage disease XIII Tags
Green Green List (high evidence)	EPG5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Vici syndrome, 242840 IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM Tags
Green Green List (high evidence)	EPM2A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Epilepsy, progressive myoclonic 2A (Lafora) Tags
Green Green List (high evidence)	ETFA	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Electron transfer flavoprotein deficiency, alpha chain (Disorders of mitochondrial fatty acid oxidation) Glutaric acidemia IIA Tags
Green Green List (high evidence)	ETFB	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glutaric acidemia IIB Electron transfer flavoprotein deficiency, beta chain (Disorders of mitochondrial fatty acid oxidation) Tags
Green Green List (high evidence)	ETFDH	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) GLUTARIC ACIDURIA TYPE 2C Glutaric acidemia IIC Disorders of ubiquinone metabolism and biosynthesis ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation) Tags
Green Green List (high evidence)	ETHE1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Ethylmalonic encephalopathy, 602473 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Isolated complex IV deficiency Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Ethylmalonic encephalopathy Tags
Green Green List (high evidence)	EXT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) Exostoses, multiple, type 1 133700 Tags
Green Green List (high evidence)	EXT2	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) Exostoses, multiple, type 2 133701 ?Seizures, scoliosis, and macrocephaly syndrome 616682 Tags
Green Green List (high evidence)	FA2H	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS Phenotypes Fatty acid 2-hydroxylase deficiency (Disorders of complex lipid synthesis) Early onset dystonia Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism) Hereditary spastic paraplegia Tags
Green Green List (high evidence)	FAH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Tyrosinemia, type I Tags
Green Green List (high evidence)	FAR1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154 Tags
Green Green List (high evidence)	FARS2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Combined oxidative phosphorylation deficiency 14, 614946 Tags
Green Green List (high evidence)	FASTKD2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial Diseases Mitochondrial Respiratory Chain Complex IV Deficiency Mitochondrial complex IV deficiency, 220110 Isolated complex IV deficiency Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Tags
Green Green List (high evidence)	FBP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glycogen Storage Disease Glycogen Storage Disorders- Liver Fructose-1,6-bisphosphatase deficiency (Disorders of gluconeogenesis) Tags
Green Green List (high evidence)	FBXL4	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes fatal encephalopathy, lactic acidosis, and severe MTDNA depletion in muscle. Disorders of mitochondrial DNA maintenance and integrity Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 Tags
Green Green List (high evidence)	FDX2	6 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy 251900 Tags
Green Green List (high evidence)	FDXR	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Green Literature Phenotypes Auditory neuropathy and optic atrophy 617717 Tags
Green Green List (high evidence)	FECH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Protoporphyria, erythropoietic, 1 177000 Tags
Green Green List (high evidence)	FGFR2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS 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 Green List (high evidence)	FH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Fumarase deficiency, 606812 Fumarase deficiency (Disorders of the citric acid cycle) Tags
Green Green List (high evidence)	FKRP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612 Fukutin-related protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153 Tags
Green Green List (high evidence)	FKTN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588 Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Tags
Green Green List (high evidence)	FLAD1	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Multiple acyl-CoA dehydrogenase deficiencies (MADDs) Tags
Green Green List (high evidence)	FMO3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Trimethylaminuria (Disorders and variants of enzymes that oxidise xenobiotics other than cytochrome P450) Tags
Green Green List (high evidence)	FOLR1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Neurodegeneration due to cerebral folate transport deficiency, 613068 Cerebral folate deficiency due to FOLR1 deficiency (Disorders of folate metabolism and transport) Tags
Green Green List (high evidence)	FOXRED1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial Diseases Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010 Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	FTCD	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glutamate formiminotransferase deficiency 229100 Tags
Green Green List (high evidence)	FUCA1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Fucosidosis, 230000 Tags
Green 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 Green List (high evidence)	FXN	7 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Friedreich ataxia, 229300 Friedreich ataxia with retained reflexes, 229300 Hereditary ataxia Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green Green List (high evidence)	FXN_GAA STR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Friedreich ataxia 229300 Tags STR
Green Green List (high evidence)	G6PC	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glycogen Storage Disease Type I Glycogen Storage Disorders- Liver Glycogen Storage Disease Glycogen Storage Disease Ia Glycogen storage disease Ia, 232200 Glycogen storage disease type 1a, von Gierke (Glycogen storage disorders) Glycogen storage disease Ia fasting intolerance with enlarged liver, renal tubular disease Tags new-gene-name
Green Green List (high evidence)	G6PC3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Dursun syndrome Tags
Green Green List (high evidence)	GAA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glycogen storage disease II, 232300 Tags
Green Green List (high evidence)	GABRG2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Febrile seizures, familial, 8 611277 Epilepsy, generalized, with febrile seizures plus, type 3 611277 {Epilepsy, childhood absence, susceptibility to, 2} 607681 Tags
Green Green List (high evidence)	GALC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Krabbe disease Tags
Green Green List (high evidence)	GALE	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability Uridine diphosphate galactose-4-epimerase deficiency (Disorders of galactose metabolism) Galactose epimerase deficiency, OMIM:230350 MONDO:0009257 Tags
Green Green List (high evidence)	GALK1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Galactokinase deficiency with cataracts, 230200 Tags
Green Green List (high evidence)	GALNS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 4A Mucopolysaccharidosis Type IVA Mucopolysaccharidosis IVA, 253000 Mucopolysaccharidosis, Type IV MPS IVA, Morquio A disease (MPS IV, Morquio disease) Tags
Green Green List (high evidence)	GALNT3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Polypeptide N-acetylgalactosaminyl transferase deficiency (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies) Tumoral calcinosis, hyperphosphatemic, familial 211900 Tags
Green Green List (high evidence)	GALT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability Classical galactosaemia (Disorders of galactose metabolism) Galactosemia Cataracts Tags
Green Green List (high evidence)	GAMT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Cerebral creatine deficiency syndrome 2 612736 Tags
Green Green List (high evidence)	GARS	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Charcot-Marie-Tooth disease, type 2D Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Neuropathy, distal hereditary motor, type VA Tags new-gene-name
Green Green List (high evidence)	GATM	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Arginine:glycine amidinotransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism) arginine:glycine amidinotransferase deficiency Cerebral creatine deficiency syndrome 3, 612718 Tags
Green Green List (high evidence)	GBA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Gaucher disease, perinatal lethal, 608013 Gaucher disease, type III, 231000 Gaucher disease, type II, 230900 Gaucher disease, type I, 230800 Gaucher disease, type IIIC, 231005 Gaucher disease Gaucher disease (Sphingolipidoses) Tags
Green Green List (high evidence)	GBE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glycogen storage disease IV, 232500 Glycogen Storage Disease Glycogen Storage Disorders- Liver Glycogen storage disease type IV, Andersen (Glycogen storage disorders) Glycogen Storage Disorders- Muscle Glycogen Storage Disease Type IV failure to thrive in addition to hepatomegaly van have neuromuscular adult form ( polyglucosan body ideas which presents with neurogenic bladder, gait difficulties Polyglucosan body disease, adult form, 263570 Tags
Green Green List (high evidence)	GCDH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glutaricaciduria, type I, 231670 Tags
Green Green List (high evidence)	GCH1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia Tags
Green Green List (high evidence)	GCLC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Gamma-glutamylcysteine synthetase deficiency (Disorders of the gamma-glutamyl cycle) Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency 230450 Tags
Green Green List (high evidence)	GDAP1	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Charcot Marie Tooth disease (CMT4A) Charcot-Marie-Tooth disease, type 4A Charcot-Marie-Tooth disease, axonal, with vocal cord paresis Charcot-Marie-Tooth disease, recessive intermediate, A Charcot-Marie-Tooth disease, axonal, type 2K Tags
Green Green List (high evidence)	GFER	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Disorders of the mitochondrial import system Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076 Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green Green List (high evidence)	GFM1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 1, 609060 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green Green List (high evidence)	GFM2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Early-onset neurological presentations of mitochondrial disease Tags
Green Green List (high evidence)	GFPT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Myasthenia, congenital, 12, with tubular aggregates(Disorders of protein N-glycosylation) 610542 Congenital myasthenic sydrome (Disorders of protein N-glycosylation) Tags
Green Green List (high evidence)	GIF	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intrinsic factor deficiency Tags new-gene-name
Green Green List (high evidence)	GK	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glycerol kinase deficiency 307030 Tags
Green Green List (high evidence)	GLA	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green London North GLH NHS GMS Phenotypes Fabry disease, cardiac variant, 301500 Fabry Disease Fabry disease (Sphingolipidoses) Fabry disease, 301500 Tags
Green Green List (high evidence)	GLB1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 4B MPS IVB, Morquio B disease (MPS IV, Morquio disease) Mucopolysaccharidosis type IVB (Morquio), 253010 GM1-gangliosidosis (Sphingolipidoses) GM1-gangliosidosis, type II, 230600 GM1-gangliosidosis, type III, 230650 Mucopolysaccharidosis, Type IV Mucopolysaccharidosis Type IVB GM1-gangliosidosis, type I, 230500 Tags
Green Green List (high evidence)	GLDC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glycine encephalopathy, 605899 Tags
Green Green List (high evidence)	GLRA1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperekplexia, hereditary 1, 149400 Tags
Green Green List (high evidence)	GLRX5	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 Disorders of iron homeostasis Tags
Green Green List (high evidence)	GLS	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412 Global developmental delay, progressive ataxia, and elevated glutamine, MONDO:0032733 Developmental and epileptic encephalopathy 71, OMIM:618328 Developmental and epileptic encephalopathy, 71, MONDO:0032678 ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339 Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, MONDO:0032685 Tags for-review STR
Green Green List (high evidence)	GLUD1	5 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hyperinsulinemic hypoglycemia and hyperammonemia (Urea cycle disorders and inherited hyperammonaemias) Hyperinsulinism-hyperammonemia syndrome, 606762 Tags
Green Green List (high evidence)	GLUL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glutamine deficiency, congenital 610015 Tags
Green Green List (high evidence)	GLYCTK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes D-glyceric aciduria 220120 D-glyceric aciduria (Disorders of serine, glycine or glycerate metabolism) Tags
Green Green List (high evidence)	GM2A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes GM2-gangliosidosis, AB variant, 272750 Tags
Green Green List (high evidence)	GMPPB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 Tags
Green Green List (high evidence)	GNE	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Sialuria OMIM:269921 sialuria MONDO:0010028 Nonaka myopathy OMIM:605820 GNE myopathy MONDO:0011603 Tags Q2_21_MOI
Green Green List (high evidence)	GNMT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glycine N-methyltransferase deficiency 606664 Tags
Green Green List (high evidence)	GNPAT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Rhizomelic chondrodysplasia punctata type 2 (Peroxisomal disorders) Rhizomelic chondrodysplasia punctata, type 2 222765 Tags
Green Green List (high evidence)	GNPTAB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mucolipidosis, Type II Mucolipidosis, Type III Alpha/Beta Mucolipidosis III alpha/beta Mucolipidosis II, I-cell disease (Other lysosomal disorders) Mucolipidosis II alpha/beta Tags
Green Green List (high evidence)	GNPTG	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mucolipidosis III, Pseudo-Hurler polydystrophy (Other lysosomal disorders) mucolipidpsis type III complementation group C Mucolipidosis, Type III Gamma Mucolipidosis III gamma Tags
Green Green List (high evidence)	GNS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes MPS IIID, Sanfilippo D disease (Mucopolysaccharidoses) Mucopolysaccharidosis Type IIID Mucopolysaccharidosis type IIID, 252940 Mucopolysaccharidosis Type III Mucopolysaccharidosis, Type III Tags
Green Green List (high evidence)	GPD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hypertriglyceridemia, transient infantile, 614480 Tags
Green Green List (high evidence)	GPHN	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Molybdenum cofactor deficiency C 615501 Mo cofactor deficiency, complementation group C (Disorders of molybdenum cofactor metabolism) epileptic encephalopathy Tags
Green Green List (high evidence)	GRHPR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Primary hyperoxaluria type II (Disorders of glyoxylate metabolism) Hyperoxaluria, primary, type II Tags
Green Green List (high evidence)	GSS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glutathione synthetase (GSS) deficiency Glutathione synthetase deficiency 266130 Glutathione synthetase deficiency with 5-oxoprolinuria Glutathione synthetase deficiency without 5-oxoprolinuria Pyroglutamic aciduria 5-oxoprolinuria Hemolytic anemia due to glutathione synthetase deficiency 231900 Glutathione synthetase deficiency (Disorders of the gamma-glutamyl cycle) Fanconi nephropathy Tags
Green Green List (high evidence)	GTPBP3	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 23 616198 Tags
Green Green List (high evidence)	GUSB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 7 Mucopolysaccharidosis VII, 253220 MPS VII, Sly disease (MPS IV, Morquio disease) Mucopolysaccharidosis Type VII Mucopolysaccharidosis, Type VII Tags
Green Green List (high evidence)	GYG1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes ?Glycogen storage disease XV Tags
Green Green List (high evidence)	GYS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glycogen storage disease 0, muscle Tags
Green Green List (high evidence)	GYS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glycogen Storage Disease Glycogen Storage Disease Type 0, Liver Glycogen Storage Disorders- Liver Glycogen storage disease type 0a, liver (Glycogen storage disorders) Glycogen storage disease, type 0, 240600 fasting intolerance without enlarged liver Tags
Green Green List (high evidence)	HAAO	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple congenital malformations VACTERL-like phenotype Tags
Green Green List (high evidence)	HADH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency 231530 Hyperinsulinemic hypoglycemia, familial, 4 609975 Tags
Green Green List (high evidence)	HADHA	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation) Trifunctional protein deficiency 609015 Tags
Green Green List (high evidence)	HADHB	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation) Trifunctional protein deficiency 609015 Tags
Green Green List (high evidence)	HAMP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hemochromatosis, type 2B 613313 Hereditary haemochromatosis Type 2 (Disorder of iron metabolism) Tags
Green Green List (high evidence)	HARS2	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Multiple respiratory chain complex deficiencies (disorders of protein synthesis) ?Perrault syndrome 2 614926 Perrault syndrome 2, 614926 Tags
Green Green List (high evidence)	HCCS	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green London North GLH NHS GMS Phenotypes Linear skin defects with multiple congenital anomalies 1 Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Microphthalmia, syndromic 7, 309801 Tags
Green Green List (high evidence)	HCFC1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) 309541 Tags
Green Green List (high evidence)	HEXA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes GM2-gangliosidosis, several forms, 272800 Tay-Sachs disease, 272800 Tags
Green Green List (high evidence)	HEXB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, 268800 Tags
Green Green List (high evidence)	HFE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hemochromatosis, 235200 Hereditary haemochromatosis Type 1 (Disorder of iron metabolism) Tags
Green Green List (high evidence)	HFE2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hemochromatosis, type 2A, 602390 Hereditary haemochromatosis Type 2 (Disorder of iron metabolism) Tags new-gene-name
Green Green List (high evidence)	HGD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Alkaptonuria Tags
Green Green List (high evidence)	HGSNAT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mucopolysaccharidosis Type III Mucopolysaccharidosis, Type III Retinitis Pigmentosa 73 Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 Mucopolysaccharidosis Type IIIC MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses) Tags
Green Green List (high evidence)	HIBCH	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 HIBCH deficiency Methacrylic aciduria (Organic acidurias) Tags
Green Green List (high evidence)	HLCS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Holocarboxylase synthetase deficiency Holocarboxylase synthetase deficiency, 253270 lactic acidosis with seizures and eczema, immune deficiency Holocarboxylase synthetase deficiency (Disorders of biotin metabolism) Tags
Green Green List (high evidence)	HMBS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Porphyria, acute intermittent, nonerythroid variant, 176000 Acute intermittent porphyria (Acute neuropathic porphyrias) Porphyria, acute intermittent, 176000 Tags
Green Green List (high evidence)	HMGCL	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Other Phenotypes 3-Hydroxy-3-methyl glutaric aciduria (Organic acidurias) 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency HMG-CoA lyase deficiency, 246450 HMGCLD Tags
Green Green List (high evidence)	HMGCS2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes HMG-CoA synthase-2 deficiency Tags
Green Green List (high evidence)	HOGA1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hyperoxaluria Type III (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Hyperoxaluria, primary, type III 613616 Tags
Green Green List (high evidence)	HPD	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hawkinsinuria 140350 Tyrosinemia, type III 276710 Tags
Green Green List (high evidence)	HPRT1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London North GLH NHS GMS Phenotypes HPRT-related gout Tags
Green Green List (high evidence)	HPS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hermansky-Pudlak syndrome 1 203300 Tags
Green Green List (high evidence)	HSD17B10	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes HSD10 mitochondrial disease 300438 Tags
Green Green List (high evidence)	HSD17B4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes D-bifunctional protein deficiency, 261515 Peroxisomal D-bifunctional protein deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation) Tags
Green Green List (high evidence)	HSD3B7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes 3- ?-hydroxysterol ?5-oxidoreductase/isomerase deficiency (Disorders of bile acid biosynthesis) Bile acid synthesis defect, congenital, 1, 607765 Tags
Green Green List (high evidence)	HSPD1	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Leukodystrophy, hypomyelinating, 4, 612233 Spastic paraplegia 13, autosomal dominant, 605280 Tags
Green Green List (high evidence)	HTRA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 3-methylglutaconic aciduria, type VIII 617248 Tags
Green Green List (high evidence)	HYAL1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes ?Mucopolysaccharidosis type IX, 601492 MPS IX, Natowicz (MPS IV, Morquio disease) Tags
Green Green List (high evidence)	IARS2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes CAGSSS - Cataracts (CA), growth hormone deficiency (G), sensory neuropathy (S), sensorineural hearing loss (S), and skeletal dysplasia (S) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) No OMIM phenotype Tags
Green Green List (high evidence)	IBA57	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ?Multiple mitochondrial dysfunctions syndrome 3, 615330 ?Spastic paraplegia 74, autosomal recessive Tags
Green Green List (high evidence)	IDH2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias) D-2-hydroxyglutaric aciduria 2, 613657 Tags
Green Green List (high evidence)	IDS	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London North GLH NHS GMS Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 2 MPS II, Hunter disease (Mucopolysaccharidoses) Mucopolysaccharidosis II, 309900 Mucopolysaccharidosis Type II Tags
Green Green List (high evidence)	IDUA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hurler syndrome Mucopolysaccharidosis type 1H/S MPS I, Hurler, Scheie disease (Mucopolysaccharidoses) Scheie syndrome Hurler-Scheie syndrome Mucopolysaccharidosis type 1S Mucopolysaccharidosis type 1H Mucopolysaccharidosis Ih/s, 607015 Mucopolysaccharidosis, Type I Mucopolysaccharidosis Is, 607016 Mucopolysaccharidosis Ih, 607014 Tags
Green Green List (high evidence)	IER3IP1	6 reviews 4 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Microcephaly, epilepsy, and diabetes syndrome, 614231 MEDS Tags
Green Green List (high evidence)	2p21 region (includes PREPL and SLC3A1) Loss ISCA-37440-Loss Region	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes hyperphagia lactic acidemia mild/moderate mental retardation Hypotonia-cystinuria syndrome (HCS) 606407 failure to thrive nephrolithiasis rapid weight gain in late childhood minor facial dysmorphism growth hormone deficiency facial dysmorphism respiratory chain complex IV deficiency cystinuria neonatal seizures 2p21 deletion syndrome hypotonia severe somatic and developmental delay Tags
Green Green List (high evidence)	ISCA1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Green Phenotypes MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613 Tags
Green Green List (high evidence)	ISCA2	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple mitochondrial dysfunctions syndrome 4 616370 Tags
Green Green List (high evidence)	ISCU	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Myopathy with lactic acidosis, hereditary, 255125 Disorders of iron homeostasis 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 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 Green List (high evidence)	ITPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Inosine triphosphatase deficiency (Disorders of purine metabolism) Epileptic encephalopathy, early infantile, 35, 616647 [Inosine triphosphatase deficiency], 613850 Tags
Green Green List (high evidence)	IVD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections. Isovaleric acidemia Isovaleric aciduria (Organic acidurias) Tags
Green Green List (high evidence)	KARS	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Deafness, autosomal recessive 89, 613916 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Charcot-Marie-Tooth disease, recessive intermediate, B (Lysyl-tRNA synthetase mutations) (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 Tags new-gene-name
Green Green List (high evidence)	KYNU	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism) VACTERL-like phenotype multiple congenital malformations ?Hydroxykynureninuria, 236800 Tags
Green Green List (high evidence)	L2HGDH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes L-2-hydroxyglutaric aciduria, 236792 Tags
Green Green List (high evidence)	LAMP2	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green London North GLH NHS GMS Phenotypes Danon disease Tags
Green Green List (high evidence)	LARGE1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154 N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Tags
Green Green List (high evidence)	LARS	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ?Infantile liver failure syndrome 1, 615438 Tags new-gene-name
Green Green List (high evidence)	LARS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Perrault syndrome Perrault syndrome 4, 615300 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green Green List (high evidence)	LBR	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes ?Reynolds syndrome 613471 Greenberg skeletal dysplasia 215140 Pelger-Huet anomaly 169400 Pelger-Huet anomaly with mild skeletal anomalies 618019 Tags
Green Green List (high evidence)	LCAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Norum disease/LCAT deficiency, 245900 Fish-eye disease, 136120 Lecithin cholesterol acyltransferase deficiency (Disorders of high density lipoprotein metabolism) Tags
Green Green List (high evidence)	LCT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Lactose intolerance (Other carbohydrate disorders) Lactase deficiency, congenital, 223000 Tags
Green Green List (high evidence)	LDHA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glycogen Storage Disease Glycogen storage disease XI, 612933 Muscle LDH deficiency (Glycogen storage disorders) Tags
Green Green List (high evidence)	LDLR	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hypercholesterolemia, familial, 1 143890 LDL cholesterol level QTL2 143890 Tags
Green Green List (high evidence)	LDLRAP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hypercholesterolemia, familial, 4 603813 Tags
Green Green List (high evidence)	LIAS	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462 Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green Green List (high evidence)	LIPA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Cholesteryl ester storage disease Tags
Green Green List (high evidence)	LIPT1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lipoyltransferase 1 deficiency Tags
Green Green List (high evidence)	LIPT2	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 Tags
Green Green List (high evidence)	LMBRD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Methylmalonic aciduria and homocystinuria, cblF type, 277380 Tags
Green Green List (high evidence)	LONP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373) Tags
Green Green List (high evidence)	LPIN1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Myoglobinuria, acute recurrent, autosomal recessive Tags
Green Green List (high evidence)	LPL	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Lipoprotein lipase deficiency, 238600 Combined hyperlipidemia, familial, 144250 Familial lipoprotein lipase deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias) Tags
Green Green List (high evidence)	LRPPRC	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Leigh syndrome, French-Canadian type, 220111 Mitochondrial Diseases Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Isolated complex IV deficiency Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Tags
Green Green List (high evidence)	LYRM7	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex III deficiency, nuclear type 8 Isolated complex III deficiency severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle leukoencephalopathy and complex III deficiency 615838 Tags
Green Green List (high evidence)	MAGT1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London North GLH NHS GMS Phenotypes Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853 Tags
Green Green List (high evidence)	MAN1B1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes MAN1B1-CDG (Disorders of protein N-glycosylation) Mental retardation, autosomal recessive 15 614202 Tags
Green Green List (high evidence)	MAN2B1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mannosidosis, alpha-, types I and II Tags
Green Green List (high evidence)	MANBA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mannosidosis, beta 248510 Tags
Green Green List (high evidence)	MAOA	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London North GLH NHS GMS Phenotypes Brunner syndrome 300615 {Antisocial behavior} 300615 Tags
Green Green List (high evidence)	MARS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Spastic Ataxia 13, autosomal recessive, 611390 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) ?Combined oxidative phosphorylation deficiency 25 Tags
Green Green List (high evidence)	MAT1A	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency Tags
Green Green List (high evidence)	MCCC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 Tags
Green Green List (high evidence)	MCCC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 Tags
Green Green List (high evidence)	MCEE	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Methylmalonyl-CoA epimerase deficiency (Organic acidurias) Methylmalonyl-CoA epimerase deficiency metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections Tags
Green Green List (high evidence)	MCOLN1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mucolipidosis, Type IV Mucolipidosis IV (Other lysosomal disorders) Tags
Green Green List (high evidence)	MDH2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 51 617339 Tags
Green Green List (high evidence)	MECR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282 Tags
Green Green List (high evidence)	MFF	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2 Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green Green List (high evidence)	MFN2	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Charcot-Marie-Tooth disease, type 2A2, 609260 Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of mitochondrial DNA maintenance and integrity Hereditary motor and sensory neuropathy VI, 601152 Tags
Green Green List (high evidence)	MFSD8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Ceroid lipofuscinosis, neuronal, 7 61095 Tags
Green Green List (high evidence)	MGAT2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes N-acetylglucosaminyltransferase deficiency (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type IIa 212066 Tags
Green Green List (high evidence)	MGME1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Mitochondrial DNA depletion syndrome 11, 615084 Disorders of mitochondrial DNA maintenance and integrity Tags
Green Green List (high evidence)	MICU1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy with extrapyramidal signs 615673 Tags
Green Green List (high evidence)	MIPEP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 31, 617228 Tags
Green Green List (high evidence)	MLYCD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Malonyl-CoA decarboxylase deficiency malonic aciduria Malonyl-CoA decarboxylase deficiency (Organic acidurias) 3.5.1. Malonyl CoA decarboxylase deficiency Other disorders of fatty acid and ketone body metabolism) Tags
Green Green List (high evidence)	MMAA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Methylmalonic aciduria, vitamin B12-responsive 251100 Defect in adenosylcobalamin synthesis-cbl A (Disorders of cobalamin absorption, transport and metabolism) Tags
Green Green List (high evidence)	MMAB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Defect in adenosylcobalamin synthesis-cbl B (Disorders of cobalamin absorption, transport and metabolism) Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type 251110 Tags
Green Green List (high evidence)	MMACHC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Methylmalonic aciduria and homocystinuria, cblC type, 277400 Tags
Green Green List (high evidence)	MMADHC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Homocystinuria, cblD type, variant 1 Tags
Green Green List (high evidence)	MOCS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Molybdenum cofactor deficiency A 252150 Tags
Green Green List (high evidence)	MOCS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Molybdenum cofactor deficiency B 252160 Tags
Green Green List (high evidence)	MOGS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Congenital disorder of glycosylation, type IIb 606056 MOGS-CDG (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type IIb, 606056 (MOGS-CDG (Disorders of protein N-glycosylation)) Tags
Green Green List (high evidence)	MPC1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial pyruvate carrier deficiency, 614741 Tags
Green Green List (high evidence)	MPDU1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Congenital disorder of glycosylation, type If 609180 Lec35 deficiency (Disorders of multiple glycosylation and other glycosylation pathways) Tags
Green Green List (high evidence)	MPI	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Congenital disorder of glycosylation, type Ib, OMIM:602579 MPI-CDG, MONDO:0011257 Phosphomannose isomerase deficiency (Disorders of protein N-glycosylation) Tags
Green Green List (high evidence)	MPV17	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial DNA Depletion Syndrome Disorders of mitochondrial DNA maintenance and integrity Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 -3 Tags
Green Green List (high evidence)	MRPL3	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 9 614582 Tags
Green Green List (high evidence)	MRPL44	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ?Combined oxidative phosphorylation deficiency 16, 615395 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Green Green List (high evidence)	MRPS2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 36 617950 No OMIM phenotype Tags
Green Green List (high evidence)	MRPS22	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 5, 611719 Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Green Green List (high evidence)	MRPS34	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 32 617664 Tags
Green Green List (high evidence)	MSMO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS 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 Green List (high evidence)	MSTO1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Myopathy, mitochondrial, and ataxia, 617675 Tags
Green Green List (high evidence)	MT-ATP6	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags
Green Green List (high evidence)	MT-ATP8	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY CARDIOMYOPATHY, INFANTILE HYPERTROPHIC BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO Tags
Green Green List (high evidence)	MT-CO1	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes CYTOCHROME c OXIDASE I DEFICIENCY SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC LEBER OPTIC ATROPHY MYOGLOBINURIA, RECURRENT CYTOCHROME c OXIDASE DEFICIENCY Tags
Green Green List (high evidence)	MT-CO2	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes CYTOCHROME c OXIDASE DEFICIENCY Tags
Green Green List (high evidence)	MT-CO3	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes LEBER OPTIC ATROPHY SEIZURES AND LACTIC ACIDOSIS MITOCHONDRIAL COMPLEX IV DEFICIENCY Tags
Green Green List (high evidence)	MT-CYB	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes ENCEPHALOMYOPATHY, MITOCHONDRIAL CARDIOMYOPATHY, INFANTILE HISTIOCYTOID MULTISYSTEM DISORDER EXERCISE INTOLERANCE PARKINSONISM/MELAS OVERLAP SYNDROME EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA LEBER OPTIC ATROPHY Tags
Green Green List (high evidence)	MT-ND1	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MELAS SYNDROME MITOCHONDRIAL COMPLEX I DEFICIENCY LEBER OPTIC ATROPHY DYSTONIA, ADULT-ONSET DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL SUDDEN INFANT DEATH SYNDROME Tags
Green Green List (high evidence)	MT-ND2	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY LEBER OPTIC ATROPHY LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY Tags
Green Green List (high evidence)	MT-ND3	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY Tags
Green Green List (high evidence)	MT-ND4	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MELAS SYNDROME LEBER OPTIC ATROPHY AND DYSTONIA LEBER OPTIC ATROPHY MITOCHONDRIAL COMPLEX I DEFICIENCY Tags
Green Green List (high evidence)	MT-ND4L	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes LEBER OPTIC ATROPHY Tags
Green Green List (high evidence)	MT-ND5	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MELAS SYNDROME LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY LEBER OPTIC ATROPHY MERRF SYNDROME Tags
Green Green List (high evidence)	MT-ND6	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MELAS SYNDROME STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA LEBER OPTIC ATROPHY AND DYSTONIA LEBER OPTIC ATROPHY LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY Tags
Green Green List (high evidence)	MT-RNR1	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes DEAFNESS, AMINOGLYCOSIDE-INDUCED DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL AUDITORY NEUROPATHY CARDIOMYOPATHY, RESTRICTIVE Tags
Green Green List (high evidence)	MT-TA	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MITOCHONDRIAL MYOPATHY MYOTONIC DYSTROPHY-LIKE MYOPATHY Tags
Green Green List (high evidence)	MT-TC	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MELAS SYNDROME DYSTONIA, MITOCHONDRIAL Tags
Green Green List (high evidence)	MT-TD	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MITOCHONDRIAL MYOPATHY, ISOLATED Tags
Green Green List (high evidence)	MT-TE	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS DIABETES AND DEAFNESS, MATERNALLY INHERITED MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT Tags
Green Green List (high evidence)	MT-TF	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags
Green Green List (high evidence)	MT-TG	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags
Green Green List (high evidence)	MT-TH	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags
Green Green List (high evidence)	MT-TI	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags
Green Green List (high evidence)	MT-TK	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags
Green Green List (high evidence)	MT-TL1	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags
Green Green List (high evidence)	MT-TL2	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags
Green Green List (high evidence)	MT-TM	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags
Green Green List (high evidence)	MT-TN	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags
Green Green List (high evidence)	MT-TP	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags
Green Green List (high evidence)	MT-TQ	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags
Green Green List (high evidence)	MT-TR	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags
Green Green List (high evidence)	MT-TS1	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags
Green Green List (high evidence)	MT-TS2	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags
Green Green List (high evidence)	MT-TV	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags
Green Green List (high evidence)	MT-TW	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags
Green Green List (high evidence)	MT-TY	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags
Green Green List (high evidence)	MTFMT	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 15 614947 Mitochondrial complex I deficiency, nuclear type 27 618248 Tags
Green Green List (high evidence)	MTHFR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Methylenetetrahydrofolate reductase deficiency (Disorders of folate metabolism and transport) Homocystinuria due to MTHFR deficiency Tags
Green Green List (high evidence)	MTO1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 10, 614702 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) infantile hypertrophic cardiomyopathy and lactic acidosis. Tags
Green Green List (high evidence)	MTPAP	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes ?Spastic ataxia 4, autosomal recessive 613672 Tags
Green Green List (high evidence)	MTR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Homocystinuria-megaloblastic anemia, cblG complementation type Tags
Green Green List (high evidence)	MTRR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Homocystinuria-megaloblastic anemia, cbl E type Tags
Green Green List (high evidence)	MTTP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Abetalipoproteinemia, 200100 (ACANTHOCYTOSIS, BASSEN-KORNZWEIG SYNDROME, MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY, MTP DEFICIENCY) Familial abetalipoproteinaemia (Inherited hypolipidaemias) Tags
Green Green List (high evidence)	MUT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections. Methylmalonic aciduria, mut(0) type 251000 Methylmalonyl-CoA mutase deficiency (Organic acidurias) Tags new-gene-name
Green Green List (high evidence)	MVK	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hyper-IgD syndrome 260920 Mevalonic aciduria 610377 Porokeratosis 3, multiple types 175900 Tags
Green Green List (high evidence)	NADK2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ?2,4-dienoyl-CoA reductase deficiency 616034 Tags
Green Green List (high evidence)	NAGA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Kanzaki disease Tags
Green Green List (high evidence)	NAGLU	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mucopolysaccharidosis Type III Mucopolysaccharidosis, Type III Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses) MUCOPOLYSACCHARIDOSIS TYPE 3B Mucopolysaccharidosis Type IIIB Tags
Green Green List (high evidence)	NAGS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes N-Acetylglutamate synthetase deficiency (Urea cycle disorders and inherited hyperammonaemias) N-acetylglutamate synthase deficiency Tags
Green Green List (high evidence)	NARS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Combined oxidative phosphorylation deficiency 24 Tags
Green Green List (high evidence)	NAXE	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 617186 Tags
Green Green List (high evidence)	NDUFA1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Isolated complex I deficiency Tags
Green Green List (high evidence)	NDUFA10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial Diseases Isolated complex I deficiency Leigh syndrome, 256000 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFA11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000 Mitochondrial Diseases Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFA4	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Isolated complex IV deficiency No OMIM phenotype Tags
Green Green List (high evidence)	NDUFA6	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 33, 618253 No OMIM phenotype Isolated complex I deficiency Tags
Green Green List (high evidence)	NDUFA9	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Leigh syndrome due to mitochondrial complex I deficiency, 256000 -3 Isolated complex I deficiency Mitochondrial complex I deficiency, nuclear type 26, 618247 Leigh syndrome due to mitochondrial complex I deficiency, 256000 Tags
Green Green List (high evidence)	NDUFAF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFAF2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial complex I deficiency, 252010 Isolated complex I deficiency Leigh syndrome, 256000 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFAF3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFAF4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFAF5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial complex 1 deficiency, 252010 Mitochondrial Diseases Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Isolated complex I deficiency Tags
Green Green List (high evidence)	NDUFAF6	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Isolated complex I deficiency Tags
Green Green List (high evidence)	NDUFAF8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes No OMIM phenotype Tags
Green Green List (high evidence)	NDUFB11	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 Phenotypes Linear skin defects with multiple congenital anomalies 3 microphthalmia with linear skin defects syndrome histiocytoid cardiomyopathy Isolated complex I deficiency Tags
Green Green List (high evidence)	NDUFB3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial complex I deficiency, 252010 Isolated complex I deficiency Tags
Green Green List (high evidence)	NDUFB8	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 32, 618252 No OMIM phenotype Isolated complex I deficiency Tags
Green Green List (high evidence)	NDUFS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial Diseases Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010 Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFS4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Leigh syndrome, 256000 Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFS6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial Diseases Isolated complex I deficiency Complex I, mitochondrial respiratory chain, deficiency of, 252010 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFS7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial Diseases Isolated complex I deficiency Leigh syndrome, 256000 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFS8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000 Mitochondrial Diseases Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFV1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFV2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial complex I deficiency, 252010 Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NEU1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Sialidosis type II Sialidosis, type I Sialidosis (Oligosaccharidoses) Mucolipidosis, Type I Sialidosis Tags
Green Green List (high evidence)	NFU1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Multiple mitochondrial dysfunctions syndrome 1 Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green Green List (high evidence)	NGLY1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes OrphaNet: ORPHA404454 Congenital disorder of deglycosylation 615273 Alacrimia-choreoathetosis-liver dysfunction syndrome OMIM:615273 Tags
Green Green List (high evidence)	NHLRC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Epilepsy, progressive myoclonic 2B (Lafora) Tags
Green Green List (high evidence)	NNT	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736 Tags
Green Green List (high evidence)	NPC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Niemann-Pick disease, type C1 Tags
Green Green List (high evidence)	NPC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Niemann-Pick disease type C2, 607625 Tags
Green Green List (high evidence)	NSDHL	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green London North GLH NHS GMS Phenotypes Congenital hemidysplasia with ichtyosiform erythroderma and limb defects (Disorders of sterol biosynthesis) CHILD syndrome 308050 XLD CK syndrome 300831 XLR Tags
Green Green List (high evidence)	NT5C3A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Anemia, hemolytic, due to UMPH1 deficiency, 266120 Uridine-5 -monophosphate hydrolase superactivity (Disorders of pyrimidine metabolism) Tags
Green Green List (high evidence)	NUBPL	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	OAT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Ornithine aminotransferase deficiency (Disorders of ornithine or proline metabolism) Gyrate atrophy of choroid and retina with or without ornithinemia Tags
Green Green List (high evidence)	OCRL	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London North GLH NHS GMS Phenotypes Dent disease 2 300555 Lowe syndrome 309000 Tags
Green Green List (high evidence)	OPA1	3 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Optic atrophy plus syndrome, 125250 {Glaucoma, normal tension, susceptibility to}, 606657 Disorders of mitochondrial DNA maintenance and integrity Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions Optic atrophy 1, 165500 Mitochondrial DNA Depletion Syndrome Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green Green List (high evidence)	OPA3	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Methylglutaconic aciduria type III, Costeff syndrome (Organic acidurias) 3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300 Tags
Green Green List (high evidence)	OTC	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 London North GLH NHS GMS Phenotypes Ornithine transcarbamylase deficiency, 311250 Ornithine transcarbamylase deficiency (Urea cycle disorders and inherited hyperammonaemias) Tags
Green Green List (high evidence)	OXCT1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Succinyl CoA:3-oxoacid CoA transferase deficiency severe ketosis on fasting often ketotic in fed state no hepatomegaly Succinyl-CoA:3-Oxoacid-CoA transferase (SCOT) deficiency (Disorders of ketone body metabolism) Succinyl CoA:3-oxoacid CoA transferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green Green List (high evidence)	PAH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Phenylketonuria Tags
Green Green List (high evidence)	PANK2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes HARP syndrome 607236 Neurodegeneration with brain iron accumulation 234200 Tags
Green Green List (high evidence)	PARS2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Epileptic encephalopathy, early infantile, 75, 618437Alpers syndrome. Epileptic encephalopathy, early infantile, 75, 618437 Alpers syndrome Tags
Green Green List (high evidence)	PC	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Pyruvate carboxylase deficiency (Disorders of gluconeogenesis) lactic acidosis, hypotonia, encephalopathy Pyruvate carboxylase deficiency 266150 Pyruvate carboxylase deficiency Tags
Green Green List (high evidence)	PCBD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hyperphenylalaninemia, BH4-deficient, D Tags
Green Green List (high evidence)	PCCA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Propionicacidemia Propionic acidemia Propionicacidemia 606054 metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections Propionic aciduria (Organic acidurias) Tags
Green Green List (high evidence)	PCCB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections) Propionic acidemia Propionicacidemia 606054 Propionicacidemia Propionic aciduria (Organic acidurias) Tags
Green Green List (high evidence)	PCK1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic 261680 Tags
Green Green List (high evidence)	PCSK9	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hypercholesterolemia, familial, 3 603776 {Low density lipoprotein cholesterol level QTL 1} 603776 Tags
Green Green List (high evidence)	PDHA1	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green London North GLH NHS GMS Phenotypes Pyruvate dehydrogenase E1? subunit deficiency (Disorders of pyruvate metabolism) Leigh syndrome, X-linked, 308930 Pyruvate dehydrogenase E1-alpha deficiency, 312170 Tags
Green Green List (high evidence)	PDHB	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Pyruvate dehydrogenase E1? subunit deficiency (Disorders of pyruvate metabolism) Pyruvate dehydrogenase E1-beta deficiency, 614111 Tags
Green Green List (high evidence)	PDHX	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Lacticacidemia due to PDX1 deficiency Pyruvate dehydrogenase E3 binding protein deficiency (Disorders of pyruvate metabolism) Tags
Green Green List (high evidence)	PDP1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Pyruvate dehydrogenase phosphatase deficiency, 608782 Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) Tags
Green Green List (high evidence)	PDSS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Coenzyme Q10 deficiency, primary, 2, 614651 Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of ubiquinone metabolism and biosynthesis Tags
Green Green List (high evidence)	PDSS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Coenzyme Q10 deficiency, primary, 3, 614652 Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of ubiquinone metabolism and biosynthesis Tags
Green Green List (high evidence)	PEPD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Prolidase deficiency 170100 Tags
Green Green List (high evidence)	PET100	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leigh syndrome Mitochondrial complex IV deficiency, 220110 Isolated complex IV deficiency Tags
Green Green List (high evidence)	PEX1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 1B (NALD/IRD) 601539 Peroxisome biogenesis disorder 1A (Zellweger) 214100 Tags
Green Green List (high evidence)	PEX10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 6A (Zellweger) 614870 Peroxisome biogenesis disorder 6B 614871 Tags
Green Green List (high evidence)	PEX11B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Peroxisome biogenesis disorder 14B Tags
Green Green List (high evidence)	PEX12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 3A (Zellweger), 614859 Peroxisome biogenesis disorder 3B Tags
Green Green List (high evidence)	PEX13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 11A (Zellweger) Tags
Green Green List (high evidence)	PEX14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 13A (Zellweger) Tags
Green Green List (high evidence)	PEX16	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Disorders of peroxisome biogenesis Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum Peroxisome biogenesis disorder 8A, (Zellweger), 614876 Peroxisomal biogenesis disorders Zellweger Syndrome Tags
Green Green List (high evidence)	PEX19	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 12A (Zellweger) Tags
Green Green List (high evidence)	PEX2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 5A (Zellweger), 614866 Peroxisome biogenesis disorder 5B, 614867 Tags
Green Green List (high evidence)	PEX26	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 7A (Zellweger) 61487 Peroxisome biogenesis disorder 7B 614873 Tags
Green Green List (high evidence)	PEX3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 10A (Zellweger) 614882 Tags
Green Green List (high evidence)	PEX5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 2A (Zellweger) Tags
Green Green List (high evidence)	PEX6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 4B 614863 Peroxisome biogenesis disorder 4A (Zellweger) 614862 Tags
Green Green List (high evidence)	PEX7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Peroxisome biogenesis disorder 9B 614879 Rhizomelic chondrodysplasia punctata, type 1 Rhizomelic chondrodysplasia punctata type 1 (Peroxisomal disorders) Tags
Green Green List (high evidence)	PFKM	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glycogen storage disease VII Tags
Green Green List (high evidence)	PGAM2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glycogen storage disease X 261670 Tags
Green Green List (high evidence)	PGAP2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hyperphosphatasia with mental retardation syndrome 3 614207 PGAP2-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Tags
Green Green List (high evidence)	PGAP3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperphosphatasia with mental retardation syndrome 4 Tags
Green Green List (high evidence)	PGK1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London North GLH NHS GMS Phenotypes Phosphoglycerate kinase 1 deficiency Tags
Green Green List (high evidence)	PGM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glycogen Storage Disease Congenital disorder of deglycosylation 615273 Glycogen storage disease type XIV (Glycogen storage disorders) Congenital disorder of glycosylation, type It, 614921 Glycogen Storage Disorders- Muscle Glycogen Storage Disease Type XIV Glycogen storage disease XIV, 612934 Tags
Green Green List (high evidence)	PGM3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 23 Tags
Green Green List (high evidence)	PHGDH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Neu-Laxova syndrome 1 256520 Phosphoglycerate dehydrogenase deficiency 601815 Tags
Green Green List (high evidence)	PHKA1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London North GLH NHS GMS Phenotypes Muscle glycogenosis, 300559 Tags
Green Green List (high evidence)	PHKA2	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glycogen Storage Disease Glycogen Storage Disorders- Liver Glycogen storage disease, type IXa2, 306000 Glycogen storage disease, type IXa1, 306000 hepatomegaly and mild hypoglycaemia Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency (Glycogen storage disorders) Tags
Green Green List (high evidence)	PHKB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes hepatomegaly and variable myopathy Glycogen Storage Disorders- Liver Glycogen Storage Disorders- Muscle Glycogen Storage Disease Glycogen storage disease type IX Hepatic and muscle phosphorylase kinase deficiency (Glycogen storage disorders) Tags
Green Green List (high evidence)	PHKG2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes hepatomegaly and variable myopathy Glycogen Storage Disorders- Liver Glycogen Storage Disease Glycogen storage disease IXc, 613027 Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency with cirrhosis (Glycogen storage disorders) Cirrhosis due to liver phosphorylase kinase deficiency Tags
Green Green List (high evidence)	PHYH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Refsum disease, 266500 Refsum disease (Disorders of peroxisomal alpha-, beta and omega-oxidation) Tags
Green Green List (high evidence)	PIGA	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London North GLH NHS GMS Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 2 300868 PIGA-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Tags Skewed X-inactivation
Green Green List (high evidence)	PIGL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes PIGL-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) CHIME syndrome 280000 Tags
Green Green List (high evidence)	PIGN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes PIGN-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Multiple congenital anomalies-hypotonia-seizures syndrome 1 Tags
Green Green List (high evidence)	PIGO	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hyperphosphatasia (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Hyperphosphatasia with mental retardation syndrome 2 614749 Tags
Green Green List (high evidence)	PIGT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 3 Tags
Green Green List (high evidence)	PIGV	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hyperphosphatasia (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Hyperphosphatasia with mental retardation syndrome 1 239300 (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Tags
Green Green List (high evidence)	PINK1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Parkinson disease 6, early onset 605909 Tags
Green Green List (high evidence)	PLA2G6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS Phenotypes Infantile neuroaxonal dystrophy 1 Tags
Green Green List (high evidence)	PMM2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Phosphomannomutase 2 deficiency (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type Ia 212065 Tags
Green Green List (high evidence)	PMPCA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes slowly progressive cerebellar ataxia non-progressive cerebellar ataxia Tags
Green Green List (high evidence)	PMPCB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Multiple mitochondrial dysfunctions syndrome 6, 617954 Tags
Green Green List (high evidence)	PNP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Immunodeficiency due to purine nucleoside phosphorylase deficiency 613179 Tags
Green Green List (high evidence)	PNPLA8	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes ?Mitochondrial myopathy with lactic acidosis, 251950 Tags
Green Green List (high evidence)	PNPO	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Pyridoxamine 5 -oxidase deficiency (Disorders of pyridoxine metabolism) Tags
Green Green List (high evidence)	PNPT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Deafness, autosomal recessive 70, 614934 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Combined oxidative phosphorylation deficiency 13, 614932 respiratory chain disorder hearing loss Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green Green List (high evidence)	POLG	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Progressive external ophthalmoplegia, autosomal dominant, 157640 Progressive external ophthalmoplegia, autosomal recessive, 258450 Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 Mitochondrial DNA depletion syndrome 4A (Alpers type) Mitochondrial DNA Depletion Syndrome Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 Tags
Green Green List (high evidence)	POLG2	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4,610131 Disorders of mitochondrial DNA maintenance and integrity Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions Tags
Green Green List (high evidence)	POMGNT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes 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 Protein-O-mannose beta-1,2-N-acetyglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Retinitis pigmentosa 76 617123 Tags
Green Green List (high evidence)	POMGNT2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 Tags
Green Green List (high evidence)	POMT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes 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) Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670 Tags
Green Green List (high evidence)	POMT2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158 Protein-O-mannosyltransferase 2 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156 Tags
Green Green List (high evidence)	POR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750 Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571 Tags
Green Green List (high evidence)	PPA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Sudden cardiac failure, infantile, 617222 Sudden cardiac failure, alcohol-induced, 617223 Tags
Green Green List (high evidence)	PPOX	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Porphyria variegata 176200 Variegate porphyria (Acute neuropathic porphyrias) Tags
Green Green List (high evidence)	PPT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Ceroid lipofuscinosis, neuronal, 1 Tags
Green Green List (high evidence)	PRKAG2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Cardiomyopathy, hypertrophic 6, 600858 Glycogen storage disease of heart, lethal congenital, 261740 Wolff-Parkinson-White syndrome, 194200 Tags
Green Green List (high evidence)	PRODH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hyperprolinemia, type I 239500 Hyperprolinaemia type I (Disorders of ornithine or proline metabolism) Tags
Green Green List (high evidence)	PRPS1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London North GLH NHS GMS 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 Green List (high evidence)	PSAP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Atypical Gaucher disease Metachromatic leukodystrophy due to SAP-b deficiency, 249900 Combined SAP deficiency Combined SAP deficiency, 611721 Prosaposin deficiency (Sphingolipidoses) Atypical Krabbe disease Gaucher disease, atypical, 610539 Krabbe disease, atypical, 611722 Tags
Green Green List (high evidence)	PSAT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes ?Phosphoserine aminotransferase deficiency 610992 Neu-Laxova syndrome 2 616038 Tags
Green Green List (high evidence)	PTS	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability 6-Pyruvoyl-tetrahydropterin synthase deficiency (Disorders of pterin metabolism) Hyperphenylalaninemia, BH4-deficient, A 261640 Tags
Green Green List (high evidence)	PUS1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Mitochondrial myopathy and sideroblastic anemia 1, 600462 Tags
Green Green List (high evidence)	PYCR1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Cutis laxa, autosomal recessive, type IIB, 612940 Cutis laxa, autosomal recessive, type IIb/IIIb (Disorders of ornithine or proline metabolism) Cutis laxa, autosomal recessive, type IIIB, 614438 Tags
Green Green List (high evidence)	PYGL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glycogen Storage Disease Glycogen Storage Disorders- Liver Glycogen storage disease VI, 232700 hepatomegaly and mild hypoglycaemia Glycogen Storage Disease Type VI Glycogen storage disease type VI, Hers (Glycogen storage disorders) Tags
Green Green List (high evidence)	PYGM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glycogen storage disease type V, McArdle (Glycogen storage disorders) McArdle disease 232600 Tags
Green Green List (high evidence)	QDPR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hyperphenylalaninemia, BH4-deficient, C Tags
Green Green List (high evidence)	QRSL1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Combined oxidative phosphorylation deficiency 40, 618835 Tags
Green Green List (high evidence)	RARS2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Pontocerebellar hypoplasia, type 6, 611523 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green Green List (high evidence)	RBCK1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency 615895 Tags
Green Green List (high evidence)	RBP4	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Retinol binding protein deficiency (Other disorders of vitamins and cofactors) Posterior segment abnormalities Tags
Green Green List (high evidence)	RFT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Congenital disorder of glycosylation, type In 612015 Flippase of Man5GlcNAc2-PP-Dol deficiency (Disorders of protein N-glycosylation) Tags
Green Green List (high evidence)	RMND1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Combined oxidative phosphorylation deficiency 11, 614922 Encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect Tags
Green Green List (high evidence)	RNASEH1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 Tags
Green Green List (high evidence)	RPIA	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Ribose-5-phosphate isomerase deficiency (Disorders of pentose metabolism) ?Ribose 5-phosphate isomerase deficiency 608611 Tags
Green Green List (high evidence)	RPL10	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Mental retardation, X-linked, syndromic, 35 Tags
Green Green List (high evidence)	RRM2B	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 Mitochondrial DNA Depletion Syndrome (recessive) Mitochondrial Ribonucelotide Reductase subunit 2 deficiency (Disorders of purine metabolism) Progressive external ophthalmoplegia with mitochondrial DNA deletions (autosomal dominant) Disorders of mitochondrial DNA maintenance and integrity Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 Tags
Green Green List (high evidence)	RTN4IP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Optic atrophy 10 with or without ataxia, mental retardation, and seizures 616732 Tags
Green Green List (high evidence)	SACS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spastic ataxia, Charlevoix-Saguenay type Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) Tags
Green Green List (high evidence)	SAMHD1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes (Disorders of nucleotide metabolism, Aicardi-Goutieres Syndrome) AGS5 Aicardi-Goutieres syndrome-5 (AGS5) Aicardi-Goutieres syndrome 5, 612952 Tags
Green Green List (high evidence)	SAR1B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Anderson disease (Inherited hypolipidaemias) CHYLOMICRON RETENTION DISEASE 246700 Tags
Green Green List (high evidence)	SARS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 Tags
Green Green List (high evidence)	SC5D	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Lathosterolosis, 607330 Intellectual disability Cataracts Tags
Green Green List (high evidence)	SCO1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048 Tags
Green Green List (high evidence)	SCO2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial Diseases Mitochondrial Respiratory Chain Complex IV Deficiency Isolated complex IV deficiency Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 Myopia 6, 608908 Tags
Green Green List (high evidence)	SCP2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Sterol carrier protein deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation) Tags
Green Green List (high evidence)	SDHA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Leigh syndrome, 256000 Paragangliomas 5, 614165 Cardiomyopathy, dilated, 1GG, 613642 Isolated complex II deficiency Mitochondrial respiratory chain complex II deficiency, 252011 Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Respiratory Chain Complex II Deficiency Tags
Green Green List (high evidence)	SDHAF1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Mitochondrial Diseases Mitochondrial complex II deficiency, 252011 Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Mitochondrial Respiratory Chain Complex II Deficiency Isolated complex II deficiency Tags
Green Green List (high evidence)	SDHB	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial Diseases Gastrointestinal stromal tumor, 606764 Pheochromocytoma, 171300 Paragangliomas 4, 115310 Isolated complex II deficiency Cowden syndrome 2, 612359 Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Paraganglioma and gastric stromal sarcoma, 606864 Tags
Green Green List (high evidence)	SDHD	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Diseases Isolated complex II deficiency Tags
Green Green List (high evidence)	SEC23B	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Dyserythropoietic anemia, congenital, type II 224100 COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies) Tags
Green Green List (high evidence)	SERAC1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Methylglutaconic aciduria with deafness, encephalopathy and Leigh-like syndrome (MEGDEL) (Organic acidurias) 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 Tags
Green Green List (high evidence)	SETX	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Charcot-Marie-Tooth disease Hereditary ataxia Amyotrophic lateral sclerosis/motor neuron disease Tags
Green Green List (high evidence)	SFXN4	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 18, 615578 Tags
Green Green List (high evidence)	SGSH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mucopolysaccharidosis Type III Mucopolysaccharidosis, Type III Mucopolysaccharidosis Type IIIA MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses) MUCOPOLYSACCHARIDOSIS TYPE 3A Tags
Green Green List (high evidence)	SI	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY 222900 Disaccharide intolerance 1 (Other carbohydrate disorders) Tags
Green Green List (high evidence)	SKIV2L	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Infantile enterocolitis & monogenic inflammatory bowel disease Trichohepatoenteric syndrome 2 (Other metabolic disorders) Tags
Green Green List (high evidence)	SLC12A3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Gitelman syndrome (Disorder of magnesium metabolism) Renal tubular acidosis Tags
Green Green List (high evidence)	SLC16A1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperinsulinemic hypoglycemia, familial, 7 mainly ketosis with borderline reduction in glucose Tags
Green Green List (high evidence)	SLC17A5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Salla disease, 604369 Sialic acid storage disorder, infantile, 269920 Tags
Green Green List (high evidence)	SLC18A2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS 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 Green List (high evidence)	SLC19A2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Thiamine-responsive megaloblastic anemia syndrome, 249270 Thiamine-responsive megaloblastic anemia syndrome (Disorders of thiamine metabolism) Tags
Green Green List (high evidence)	SLC19A3	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Biotin-responsive basal ganglia disease (Disorders of thiamine metabolism) Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2),607483 Tags
Green Green List (high evidence)	SLC22A5	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Propionicacidemia Carnitine transporter deficiency (Disorders of carnitine transport and the carnitine cycle) Tags
Green Green List (high evidence)	SLC25A1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 Disorders of mitochondrial protein transport Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism) Tags
Green Green List (high evidence)	SLC25A12	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Inherited white matter disorders Epileptic encephalopathy, early infantile, 39 612949 Hypomyelination, global cerebral, 612949 Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green Green List (high evidence)	SLC25A13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Citrullinemia, adult-onset type II 603471 Citrullinemia, adult-onset type II, 603471Citrullinemia, type II, neonatal-onset, 605814 Citrullinemia Type 2 (Urea cycle disorders and inherited hyperammonaemias) Tags
Green Green List (high evidence)	SLC25A15	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 HHH syndrome (Urea cycle disorders and inherited hyperammonaemias) Tags
Green Green List (high evidence)	SLC25A19	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Microcephaly, Amish type, 607196 Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 Microcephaly, Amish type (Disorders of thiamine metabolism) Tags
Green Green List (high evidence)	SLC25A20	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Carnitine-acylcarnitine translocase deficiency 212138 Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle) Tags
Green Green List (high evidence)	SLC25A22	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Epileptic encephalopathy, early infantile, 3, 609304 Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green Green List (high evidence)	SLC25A26	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 28 intra-mitochondrial methylation deficiency. Intra-mitochondrial Methylation Deficiency leading to Clinical findings ranging from neonatal mortality resulting from respiratory insufficiency and hydrops to childhood acute episodes of cardiopulmonary failure and slowly progressive muscle weakness Tags
Green Green List (high evidence)	SLC25A3	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial phosphate carrier deficiency, 610773 Mitochondrial phosphate carrier deficiency 610773 Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism) Tags
Green Green List (high evidence)	SLC25A32	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes ?Exercise intolerance, riboflavin-responsive Tags
Green Green List (high evidence)	SLC25A38	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes severe, non-syndromic, microcytic/hypochromic sideroblastic anemia Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) nonsyndromic autosomal recessive congenital sideroblastic anemia congenital sideroblastic anemias Tags
Green Green List (high evidence)	SLC25A4	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Progressive External Ophthalmoplegia with Mitochondrial DNADeletions 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 Tags
Green Green List (high evidence)	SLC25A42	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 618416 mitochondrial myopathy Tags
Green Green List (high evidence)	SLC25A46	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes optic atrophy spectrum disorder Tags
Green Green List (high evidence)	SLC2A1	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability Early onset dystonia Cataracts Glucose transporter 1 deficiency (blood-brain barrier) (Disorders of glucose transport) Hereditary ataxia Epileptic encephalopathy Familial Genetic Generalised Epilepsies GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 GLUT1 deficiency syndrome 2, childhood onset, 612126 Tags
Green Green List (high evidence)	SLC2A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glycogen storage disease type XI (Glycogen storage disorders) Glycogen Storage Disorders- Liver Glucose transporter 2 deficiency (Disorders of glucose transport) Fanconi-Bickel Syndrome renal falcon syndrome, aminoaciduria phosphaturia, small stature, malabsorption, hepatomegaly and nephromegaly. Tags
Green Green List (high evidence)	SLC30A10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Parkinson Disease and Complex Parkinsonism Early onset dystonia Hypermanganesemia with dystonia 1 Hypermanganesemia with dystonia, polycythemia, and cirrhosis (Disorder of magnesium metabolism) Tags
Green Green List (high evidence)	SLC35A1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Congenital disorder of glycosylation, type IIf 603585 Congenital disorder of glycosylation, type Iif, 603585 CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) Tags
Green 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 London North GLH NHS GMS Phenotypes Intellectual disability Congenital disorder of glycosylation, type IIm 300896 SLC35A2-CDG (other congenital disorders of glycosylation) Tags
Green Green List (high evidence)	SLC35C1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) Congenital disorder of glycosylation, type IIc 266265 Tags
Green Green List (high evidence)	SLC35D1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes 9.2.3. O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation) Tags
Green Green List (high evidence)	SLC37A4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glycogen storage disease Ic, 232240 Glycogen storage disease Ib, 232220 Glycogen Storage Disease Type I Glycogen Storage Disorders- Liver Glycogen Storage Disease Glycogen Storage Disease Ib and Ic Glycogen storage disease type 1b, von Gierke (Glycogen storage disorders) heptomgaly, feed intolerance , inflammatory bowel disease, neutropenia Tags
Green Green List (high evidence)	SLC39A14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypermanganesemia with dystonia 2 Tags
Green Green List (high evidence)	SLC39A4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Acrodermatitis enteropathica (Disorder of zinc metabolism) Acrodermatitis enteropathica 201100 (Disorder of zinc metabolism) Tags
Green Green List (high evidence)	SLC39A8	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS Phenotypes Congenital disorder of glycosylation, type IIn 616721 Hypomagnesaemia with cerebellar atrophy, hypotonia, strabismus, developmental delay, short stature, mild skeletal dysplasia, and connective tissue abnormalities (Disorder of magnesium metabolism) Tags
Green Green List (high evidence)	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 London North GLH NHS GMS Phenotypes Renal tract calcification (or Nephrolithiasis/nephrocalcinosis) Cystinuria (Disorders of amino acid transport) Hypotonia-cystinuria syndrome (Disorders of amino acid transport) Tags
Green Green List (high evidence)	SLC40A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hemochromatosis, type 4 606069 (Disorder of iron metabolism) Hereditary haemochromatosis Type 4 (Disorder of iron metabolism) Tags
Green Green List (high evidence)	SLC46A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Folate malabsorption, hereditary Hereditary folate malabsorption (Disorders of folate metabolism and transport) Tags
Green Green List (high evidence)	SLC52A2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Brown-Vialetto-Van Laere syndrome 2 614707 Tags
Green Green List (high evidence)	SLC52A3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Brown-Vialetto-Van Laere syndrome 1 211530 Fazio-Londe disease 211500 Tags
Green Green List (high evidence)	SLC5A1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glucose/galactose malabsorption (Disorders of glucose transport) Glucose/galactose malabsorption 606824 (Disorders of glucose transport) Tags
Green Green List (high evidence)	SLC6A19	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Iminoglycinuria, digenic Hartnup disorder AD Tags
Green Green List (high evidence)	SLC6A20	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperglycinuria Tags
Green Green List (high evidence)	SLC6A3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability Early onset dystonia Dopamine transporter deficiency syndrome (Other disorders of neurotransmitter metabolism) Parkinson Disease and Complex Parkinsonism Tags
Green Green List (high evidence)	SLC6A8	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability Creatine transporter deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism) Tags
Green Green List (high evidence)	SLC7A7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Lysinuric protein intolerance (Disorders of amino acid transport) Lysinuric protein intolerance 222700 Tags
Green 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 London North GLH NHS GMS Phenotypes Renal tract calcification (or Nephrolithiasis/nephrocalcinosis) Cystinuria (Disorders of amino acid transport) Tags
Green Green List (high evidence)	SMPD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Niemann-Pick disease, type A, 257200 Niemann-Pick disease, type B, 607616 Tags
Green Green List (high evidence)	SPG7	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Spastic paraplegia 7, autosomal recessive, 607259 Disorders of mitochondrial DNA maintenance and integrity Tags
Green Green List (high evidence)	SPR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability Early onset dystonia Sepiapterin reductase deficiency (Disorders of pterin metabolism) Parkinson Disease and Complex Parkinsonism Tags treatable
Green Green List (high evidence)	SPTLC1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Charcot-Marie-Tooth disease Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis) Familial dysautonomia Tags
Green Green List (high evidence)	SPTLC2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Charcot-Marie-Tooth disease Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis) Familial dysautonomia Tags
Green Green List (high evidence)	SRD5A3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes SRD5A3-CDG (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type Iq 612379 Tags
Green Green List (high evidence)	SSBP1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Tags
Green Green List (high evidence)	SSR4	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type Iy 300934 Tags
Green Green List (high evidence)	ST3GAL3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability Epileptic encephalopathy, early infantile, 15 615006 ST3GAL3-CDG (Disorders of protein N-glycosylation) Tags
Green Green List (high evidence)	ST3GAL5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Salt and pepper developmental regression syndrome 609056 GM3 synthase deficiency (Disorders of complex lipid synthesis) Tags
Green Green List (high evidence)	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 London North GLH NHS GMS Phenotypes X-linked ichthyosis (Other disorders in the metabolism of sterols) Autosomal recessive congenital ichthyosis Tags
Green Green List (high evidence)	SUCLA2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonicaciduria), 612073 Mitochondrial DNA Depletion Syndrome Disorders of mitochondrial DNA maintenance and integrity Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green Green List (high evidence)	SUCLG1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Mitochondrial DNA Depletion Syndrome Disorders of mitochondrial DNA maintenance and integrity Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria),245400 Tags
Green Green List (high evidence)	SUMF1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Multiple sulfatase deficiency Tags
Green Green List (high evidence)	SUOX	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Sulfite oxidase deficiency Tags
Green Green List (high evidence)	SURF1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial Diseases Complex IV deficiency Leigh Syndrome Isolated complex IV deficiency Leigh syndrome, due to COX deficiency, 256000 Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Tags
Green Green List (high evidence)	TACO1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial Diseases Multiple respiratory chain complex deficiencies (disorders of protein synthesis) ?Mitochondrial complex IV deficiency, 220110 Isolated complex IV deficiency Mitochondrial Respiratory Chain Complex IV Deficiency Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Tags
Green Green List (high evidence)	TALDO1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Transaldolase deficiency Tags
Green Green List (high evidence)	TANGO2	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 Tags
Green Green List (high evidence)	TAT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability Tyrosinaemia type II (Disorders of phenylalanine or tyrosine metabolism) Tags
Green Green List (high evidence)	TAZ	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London North GLH NHS GMS Phenotypes Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Barth syndrome, 302060 Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias) Disorders of mitochondrial lipid metabolism Tags
Green Green List (high evidence)	TCN2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Congenital neutropaenia Intellectual disability A- or hypo-gammaglobulinaemia Agranulocytosis Combined B and T cell defect SCID Transcobalamin II deficiency (Disorders of cobalamin absorption, transport and metabolism) Tags
Green Green List (high evidence)	TFR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hemochromatosis, type 3 604250 Hereditary haemochromatosis Type 3 (Disorder of iron metabolism) Tags
Green Green List (high evidence)	TH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability Early onset dystonia Tyrosine hydroxylase deficiency (Disorders of neurotransmitter metabolism, biogenic amines) Parkinson Disease and Complex Parkinsonism Tags treatable
Green Green List (high evidence)	TIMM50	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Green Literature Phenotypes 3-methylglutaconic aciduria, type IX 617698 Tags
Green Green List (high evidence)	TIMM8A	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mohr-Tranebjaerg syndrome, 304700 Jensen syndrome, 311150 Disorders of the mitochondrial import system Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Deafness, X-linked 1, progressive Tags
Green Green List (high evidence)	TK2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 Mitochondrial DNA Depletion Syndrome Disorders of mitochondrial DNA maintenance and integrity Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Thymidine kinase 2 deficiency (Disorders of pyrimidine metabolism) Tags
Green Green List (high evidence)	TMEM126B	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Isolated complex I deficiency Tags
Green Green List (high evidence)	TMEM165	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Congenital disorder of glycosylation, type IIk 614727 CDG2K (other congenital disorders of glycosylation) Tags
Green Green List (high evidence)	TMEM199	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIp 616829 Tags
Green Green List (high evidence)	TMEM5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 Tags new-gene-name
Green Green List (high evidence)	TMEM70	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial Diseases Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 Isolated complex V deficiency Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type Tags
Green Green List (high evidence)	TOP3A	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 Tags
Green Green List (high evidence)	TPK1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 Tags
Green Green List (high evidence)	TPP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability Ceroid lipofuscinosis, neuronal, 2 CLN2, Jansky-Bielschowsky disease (Ceroid lipfuscinoses, neuronal) Hereditary ataxia Tags
Green Green List (high evidence)	TRAP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes VACTERL CAKUT Tags
Green Green List (high evidence)	TREX1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability Familial cerebral small vessel disease Intracerebral calcification disorders (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS1 Inherited white matter disorders Tags
Green Green List (high evidence)	TRIM37	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mulibrey nanism (Other peroxisomal disorders) Mulibrey nanism Tags
Green Green List (high evidence)	TRIT1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) No OMIM phenotype Combined oxidative phosphorylation deficiency 35 617873 Tags
Green Green List (high evidence)	TRMT10C	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Combined oxidative phosphorylation deficiency 30, 616974 Tags
Green Green List (high evidence)	TRMT5	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 26 616539 Multiple Respiratory-Chain Deficiencies Tags
Green Green List (high evidence)	TRMU	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes {Deafness, mitochondrial, modifier of}, 580000 Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Liver failure, transient infantile, 613070 Tags
Green Green List (high evidence)	TRNT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes congenital sideroblastic anemia with B cell immunodeficiency, fevers, and developmental delay (SIFD) retinitis pigmentosa with erythrocytic microcytosis Tags
Green Green List (high evidence)	TRPM6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hypomagnesemia 1, intestinal 602014 Hypomagnesaemia type 1, intestinal (Disorder of magnesium metabolism) Tags
Green Green List (high evidence)	TSFM	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 3, 610505 Combined oxidative phosphorylation deficiency 3 610505 Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green Green List (high evidence)	TTC19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial Diseases Isolated complex III deficiency Mitochondrial Respiratory Chain Complex III Deficiency Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Mitochondrial complex III deficiency, nuclear type 2, 615157 Tags
Green Green List (high evidence)	TTC37	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Infantile enterocolitis & monogenic inflammatory bowel disease Trichohepatoenteric syndrome 1 (Other metabolic disorders) Tags
Green Green List (high evidence)	TTPA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes TTP1 deficiency (Other disorders of vitamins and cofactors) Hereditary ataxia Tags
Green Green List (high evidence)	TUFM	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Victorian Clinical Genetics Services 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 4 610678 Combined oxidative phosphorylation deficiency 4, 610678 Tags
Green Green List (high evidence)	TUSC3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes TUSC3-CDG (Disorders of protein N-glycosylation) Mental retardation, autosomal recessive 7 Tags
Green Green List (high evidence)	TWNK	5 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial Membrane Protein-Associated Neurodegeneration (biallelic) Disorders of mitochondrial DNA maintenance and integrity Mitochondrial DNA Depletion Syndrome (biallelic) Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Progressive external ophthalmoplegia, autosomal dominant, 3, 609286 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 Mitochondrial DNA Depletion Syndrome Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions (monoallelic) Tags
Green Green List (high evidence)	TYMP	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Thymidine phosphorylase deficiency (Disorders of pyrimidine metabolism) Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of mitochondrial DNA maintenance and integrity Mitochondrial Neurogastrointestinal Encephalopathy Disease Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 Tags
Green Green List (high evidence)	UGT1A1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Crigler-Najjar syndrome, type I 218800 Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport) Crigler-Najjar syndrome, type II 606785 Tags
Green Green List (high evidence)	UMOD	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Cystic kidney disease Unexplained kidney failure in young people Familial juvenile hyperuricaemic nephropathy (Disorders of purine metabolism) Tags
Green Green List (high evidence)	UMPS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability Orotic aciduria Orotic aciduria (Disorders of pyrimidine metabolism) Tags
Green Green List (high evidence)	UPB1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Beta-ureidopropionase deficiency (Disorders of pyrimidine metabolism) Beta-ureidopropionase deficiency 613161 Tags
Green Green List (high evidence)	UQCC2	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Isolated complex III deficiency Tags
Green Green List (high evidence)	UQCRB	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Mitochondrial complex III deficiency, nuclear type 3, 615158 Mitochondrial Diseases Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial complex III deficiency, nuclear type 3 615158 Isolated complex III deficiency Tags
Green Green List (high evidence)	UROD	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Phenotypes Porphyria cutanea tarda (Porphyrias with erosive photodermatosis) Tags
Green Green List (high evidence)	UROS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis) Porphyria, congenital erythropoietic 263700 Tags
Green Green List (high evidence)	VARS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Combined oxidative phosphorylation deficiency 20, 615917 Tags
Green Green List (high evidence)	VIPAS39	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Inherited bleeding disorders ARC Syndrome (Other metabolic disorders) Arthrogryposis Tags
Green 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 London North GLH NHS GMS Phenotypes Vitamin K epoxide reductase deficiency (Other disorders of vitamins and cofactors) Inherited bleeding disorders Tags
Green Green List (high evidence)	VPS33B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Inherited bleeding disorders Unexplained kidney failure in young people CAKUT ARC Syndrome (Other metabolic disorders) Arthrogryposis Tags
Green Green List (high evidence)	WARS2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 Tags
Green Green List (high evidence)	WDR45	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green London North GLH NHS GMS Phenotypes Neurodegeneration with brain iron accumulation 5 Tags
Green Green List (high evidence)	WFS1	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Diabetes with additional phenotypes suggestive of a monogenic aetiology Inherited optic neuropathies Wolfram syndrome 1, 222300 Mitochondrial respiratory chain disorders caused by nuclear variants only Hereditary ataxia Familial diabetes Congenital hearing impairment (profound/severe) Tags
Green Green List (high evidence)	XDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Xanthinuria type II (Disorders of purine metabolism) Xanthinuria type I (Disorders of purine metabolism) Tags
Green Green List (high evidence)	XYLT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Desbuquois dysplasia 2, 615777 Tags
Green Green List (high evidence)	XYLT2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spondyloocular syndrome Tags
Green Green List (high evidence)	YARS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 Tags
Amber Amber List (moderate evidence)	AHCY	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 Disorders of the metabolism of sulphur amino acids Tags for-review treatable
Amber Amber List (moderate evidence)	ALG13	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber London North GLH NHS GMS Phenotypes ?Congenital disorder of glycosylation, type Is 300884 Epileptic encephalopathy, early infantile, 36 300884 Tags
Amber Amber List (moderate evidence)	ALG14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227 Congenital myasthenic sydrome (Disorders of protein N-glycosylation) Tags for-review
Amber Amber List (moderate evidence)	ALG2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Myasthenic syndrome, congenital, 14, with tubular aggregates 616228 Mannosyltransferase 2 deficiency (Disorders of protein N-glycosylation) ?Congenital disorder of glycosylation, type Ii 607906 Tags
Amber Amber List (moderate evidence)	ATP5A1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes ?Combined oxidative phosphorylation deficiency 22 Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4 ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4 615228 ?Combined oxidative phosphorylation deficiency 22 616045 Tags new-gene-name
Amber Amber List (moderate evidence)	ATP5E	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 614053 Tags new-gene-name
Amber Amber List (moderate evidence)	COA3	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Ostergaard et al., 2015, J. Med. Genet., 52, 203-207. Tags
Amber Amber List (moderate evidence)	COASY	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Neurodegeneration with brain iron accumulation 6, 615643 Pontocerebellar hypoplasia, type 12, 618266 Tags
Amber Amber List (moderate evidence)	COX4I2	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 612714 Tags
Amber Amber List (moderate evidence)	CSTB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800 Tags
Amber Amber List (moderate evidence)	CYCS	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes Thrombocytopenia 4, 612004 Tags
Amber Amber List (moderate evidence)	DCC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Gaze palsy, familial horizontal, with progressive scoliosis, 2 Tags
Amber Amber List (moderate evidence)	DHDDS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Retinitis pigmentosa 59 613861 ?Congenital disorder of glycosylation, type 1bb 613861 Tags
Amber Amber List (moderate evidence)	ERAL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Perrault syndrome 6, 617565 Tags
Amber Amber List (moderate evidence)	GALM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Literature Phenotypes Galactosemia IV, OMIM:618881 MONDO:0030105 Tags for-review
Amber Amber List (moderate evidence)	GATC	2 reviews	Unknown	Sources Expert Review Amber Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Amber Amber List (moderate evidence)	GORAB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Geroderma osteodysplasticum OMIM:231070 geroderma osteodysplastica MONDO:0009271 Tags Q2_21_phenotype
Amber Amber List (moderate evidence)	HS2ST1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability dysmorphic features congenital anomalies Tags for-review
Amber Amber List (moderate evidence)	HSPA9	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Even-plus syndrome 616854 Tags
Amber Amber List (moderate evidence)	LIPC	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Hepatic lipase deficiency, 614025 [High density lipoprotein cholesterol level QTL 12] 612797 {Diabetes mellitus, noninsulin-dependent} 125853 Tags
Amber Amber List (moderate evidence)	LYRM4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes ?Combined oxidative phosphorylation deficiency 19, 615595 Tags
Amber Amber List (moderate evidence)	MRM2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes ?Mitochondrial DNA depletion syndrome 17, 618567 Tags
Amber Amber List (moderate evidence)	MRPS14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes ?Combined oxidative phosphorylation deficiency 38, 618378 Tags
Amber Amber List (moderate evidence)	MRPS16	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 2 610498 Tags
Amber Amber List (moderate evidence)	MRPS7	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Amber Amber List (moderate evidence)	MT-RNR2	3 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Amber Tags
Amber Amber List (moderate evidence)	MT-TT	3 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Amber Tags
Amber Amber List (moderate evidence)	NDUFA12	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes ?Mitochondrial complex I deficiency, nuclear type 23 618244 Tags
Amber Amber List (moderate evidence)	NDUFB9	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes ?Mitochondrial complex I deficiency, nuclear type 24 618245 Tags
Amber Amber List (moderate evidence)	NDUFC2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Mitochondrial complex I deficiency, nuclear type 36 OMIM:619170 Tags Q2_21_rating
Amber Amber List (moderate evidence)	NSUN3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Combined mitochondrial respiratory chain complex deficiency Tags
Amber Amber List (moderate evidence)	NUS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes ?Congenital disorder of glycosylation, type 1aa OMIM:617082 congenital disorder of glycosylation, type IAA MONDO:0014904 Tags
Amber Amber List (moderate evidence)	OPLAH	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes 5-oxoprolinase deficiency 260005 Tags
Amber Amber List (moderate evidence)	PDK3	4 reviews 1 green 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 London North GLH NHS GMS Phenotypes ?Charcot-Marie-Tooth disease, X-linked dominant, 6 300905 Tags
Amber Amber List (moderate evidence)	PET117	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes lesions in the medulla oblongata Tags
Amber Amber List (moderate evidence)	PIGM	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Glycosylphosphatidylinositol deficiency 610293 Tags
Amber Amber List (moderate evidence)	PITRM1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes mental retardation, spinocerebellar ataxia, cognitive decline and psychosis Tags
Amber Amber List (moderate evidence)	POMK	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12 OMIM:616094 limb-girdle muscular dystrophy due to POMK deficiencyMONDO:0014489 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 OMIM:615249 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 MONDO:0014101 Tags Q2_21_rating
Amber Amber List (moderate evidence)	PSPH	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Phosphoserine phosphatase deficiency 614023 Tags
Amber Amber List (moderate evidence)	PTCD3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes low birth weight, mental retardation, and optic atrophy Tags
Amber Amber List (moderate evidence)	QARS	4 reviews 1 green	Unknown	Sources Expert Review Amber Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags new-gene-name
Amber Amber List (moderate evidence)	RANBP2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Acute necrotizing encephalopathy (Other metabolic disorders) Tags
Amber Amber List (moderate evidence)	RNASET2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Intellectual disability RNASET2-deficient cystic leukoencephalopathy (Disorders of nucleotide metabolism) Inherited white matter disorders Tags
Amber Amber List (moderate evidence)	RYR1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Rhabdomyolysis and metabolic muscle disorders Tags
Amber Amber List (moderate evidence)	SDHAF2	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Mitochondrial Diseases Isolated complex II deficiency Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Neuro-endocrine Tumours- PCC and PGL Multiple endocrine tumours Multiple Tumours Tags
Amber Amber List (moderate evidence)	SDHC	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Mitochondrial Diseases Isolated complex II deficiency Neuro-endocrine Tumours- PCC and PGL Multiple endocrine tumours Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Multiple Tumours Tags
Amber Amber List (moderate evidence)	SHMT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, OMIM:619121 Tags for-review
Amber Amber List (moderate evidence)	SLC5A6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes SLC5A6-related Neurodevelopmental Disorder Tags for-review
Amber Amber List (moderate evidence)	STAT2	7 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Immunodeficiency 44 616636 elongated mitochondria severe neurological deterioration following viral infection Tags
Amber Amber List (moderate evidence)	STT3A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes ?Congenital disorder of glycosylation, type Iw 615596 Tags
Amber Amber List (moderate evidence)	TARS2	2 reviews 1 green	Unknown	Sources Expert Review Amber Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) ?Combined oxidative phosphorylation deficiency 21, 615918 Tags
Amber Amber List (moderate evidence)	TFAM	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156 Tags
Amber Amber List (moderate evidence)	TIMMDC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Mitochondrial complex I deficiency, nuclear type 31, 618251 Tags
Amber Amber List (moderate evidence)	TKFC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Triokinase and FMN cyclase deficiency syndrome, 618805 Tags watchlist
Amber Amber List (moderate evidence)	TMEM65	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes TMEM65 related mitochondrial encephalopmyopathy Tags
Amber Amber List (moderate evidence)	TRAPPC11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 18 OMIM:615356 autosomal recessive limb-girdle muscular dystrophy type 2S MONDO:0014144 Tags
Amber Amber List (moderate evidence)	UQCC3	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes ?Mitochondrial complex III deficiency, nuclear type, 616111 Isolated complex III deficiency Tags
Amber Amber List (moderate evidence)	UQCRC2	4 reviews 1 green	Unknown	Sources Expert Review Amber Phenotypes Mitochondrial complex III deficiency, nuclear type 5, 615160 Isolated complex III deficiency Tags
Amber Amber List (moderate evidence)	UQCRQ	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Mitochondrial complex III deficiency, nuclear type 4, 615159 Tags
Amber Amber List (moderate evidence)	UROC1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Intellectual disability Urocanase deficiency (Disorders of histidine, tryptophan or lysine metabolism) Tags
Amber Amber List (moderate evidence)	XPNPEP3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes nephronophthisis-like nephropathy Tags
Amber Amber List (moderate evidence)	YME1L1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes ?Optic atrophy 11, 617302 Tags
Red Red List (low evidence)	ABCG2	1 review 1 red	Unknown	Sources Expert Review Red London North GLH NHS GMS Phenotypes Primary idiopathic gout (Disorders of purine metabolism) [Junior blood group system] 614490 [Uric acid concentration, serum, QTL1] 138900 Tags
Red Red List (low evidence)	ALDH1B1	2 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Succinic semialdehyde dehydrogenase deficiency Tags
Red Red List (low evidence)	AMPD1	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Myoadenylate deaminase deficiency (Disorders of purine metabolism) Myopathy due to myoadenylate deaminase deficiency 615511 Tags
Red Red List (low evidence)	AOX1	1 review 1 red	Unknown	Sources Expert Review Red London North GLH NHS GMS Phenotypes Xanthinuria type II (Disorders of purine metabolism) Tags
Red Red List (low evidence)	ARSG	1 review 1 red	Unknown	Sources Expert Review Red Phenotypes neuronal ceroid lipofuscinosis Tags
Red Red List (low evidence)	ATAD3B	2 reviews	Unknown	Sources Expert Review Red Phenotypes Influence on AIDS progression No OMIM phenotype Tags
Red Red List (low evidence)	ATP5B	3 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags new-gene-name
Red Red List (low evidence)	ATP5C1	3 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags new-gene-name
Red Red List (low evidence)	ATP5G1	3 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags new-gene-name
Red Red List (low evidence)	ATP5G2	3 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags new-gene-name
Red Red List (low evidence)	ATP5G3	3 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags new-gene-name
Red Red List (low evidence)	ATP5I	3 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags new-gene-name
Red Red List (low evidence)	ATP5J	3 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags new-gene-name
Red Red List (low evidence)	ATP5O	3 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags new-gene-name
Red Red List (low evidence)	ATXN7	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London North GLH NHS GMS Phenotypes Spinocerebellar ataxia 7 164500 Spinocerebellar ataxia-7 (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Red Red List (low evidence)	BCAT1	1 review 1 red	Unknown	Sources Expert Review Red London North GLH NHS GMS Phenotypes Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria) Tags
Red Red List (low evidence)	BOLA1	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	BOLA2	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	C1GALT1C1	1 review	Other - please specify in evaluation comments	Sources Expert Review Red London North GLH NHS GMS Phenotypes COSMC-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies) Tn polyagglutination syndrome, somatic Tn polyagglutination syndrome, somatic 300622 Tags
Red Red List (low evidence)	CAD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?Congenital disorder of glycosylation, type Iz 616457 Tags
Red Red List (low evidence)	CD320	1 review	Unknown	Sources Expert Review Red London North GLH NHS GMS Phenotypes Methylmalonic aciduria due to transcobalamin receptor defect Tags
Red Red List (low evidence)	CEP89	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes isolated complex IV deficiency, intellectual disability and multisystemic problems Tags
Red Red List (low evidence)	CETP	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London North GLH NHS GMS Phenotypes [High density lipoprotein cholesterol level QTL 10] 143470 Familial hyperalphalipoproteinaemia (Disorders of high density lipoprotein metabolism) Hyperalphalipoproteinemia 143470 Tags
Red Red List (low evidence)	CLPS	1 review 1 red	Unknown	Sources Expert Review Red London North GLH NHS GMS Phenotypes Pancreatic colipase deficiency (Other disorders of lipid and lipoprotein metabolism) Tags
Red Red List (low evidence)	CNDP1	1 review 1 red	Unknown	Sources Expert Review Red London North GLH NHS GMS Phenotypes Carnosinaemia (Other disorders of peptide metabolism) Tags
Red Red List (low evidence)	COA1	2 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	COA5	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500 Tags
Red Red List (low evidence)	COG2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?Congenital disorder of glycosylation, type IIq, 617395 Tags
Red Red List (low evidence)	COX4I1	2 reviews	Unknown	Sources Expert Review Red Phenotypes Mitochondrial Diseases No OMIM phenotype Tags
Red Red List (low evidence)	COX5A	2 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	COX5B	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	COX6C	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	COX7A1	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	COX7A2	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	COX7B2	1 review	Unknown	Sources Expert Review Red Phenotypes ?{Nasopharyngeal carcinoma, susceptibility to}, 607107 Tags
Red Red List (low evidence)	COX7C	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	COX8A	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?Mitochondrial complex IV deficiency 220110 Tags
Red Red List (low evidence)	CYP7A1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Cholesterol 7-alpha-hydroxylase deficiency (Disorders of bile acid biosynthesis) Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency Tags
Red Red List (low evidence)	DDOST	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?Congenital disorder of glycosylation, type Ir 614507 Tags
Red Red List (low evidence)	DHFR2	1 review 1 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	DLST	3 reviews 1 red	Unknown	Sources Expert Review Red London North GLH NHS GMS Phenotypes No OMIM phenotype?Familial Alzheimer disease Tags
Red Red List (low evidence)	DMGDH	1 review 1 red	Unknown	Sources Expert Review Red London North GLH NHS GMS Phenotypes Dimethylglycine dehydrogenase deficiency 605850 Dimethylglycinuria (Disorders and variants of enzymes that oxidise xenobiotics other than cytochrome P450) Tags
Red Red List (low evidence)	DPEP1	1 review 1 red	Unknown	Sources Expert Review Red London North GLH NHS GMS Phenotypes Cysteinylglycinase deficiency (Disorders of the gamma-glutamyl cycle) Tags
Red Red List (low evidence)	DTD1	0 reviews	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	ECSIT	2 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Isolated complex I deficiency Tags
Red Red List (low evidence)	EGF	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Hypomagnesaemia type 4, renal (Disorder of magnesium metabolism) Tags
Red Red List (low evidence)	ERCC6L2	0 reviews	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	FBP2	1 review	Unknown	Sources Expert Review Red Phenotypes isolated lactic acidosis Tags
Red Red List (low evidence)	FOLR2	1 review 1 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	FOLR3	1 review 1 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	FXYD2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London North GLH NHS GMS Phenotypes Hypomagnesemia 2, renal 154020 Hypomagnesaemia type 2, renal (Disorder of magnesium metabolism) Tags
Red Red List (low evidence)	GALNT12	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London North GLH NHS GMS Phenotypes (GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)) GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies) {Colorectal cancer, susceptibility to, 1} 608812 Tags
Red Red List (low evidence)	GATB	2 reviews 1 red	Unknown	Sources Expert Review Red Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Red Red List (low evidence)	GCSH	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Glycine encephalopathy Tags
Red Red List (low evidence)	GGT1	2 reviews 1 red	Unknown	Sources Expert Review Red London North GLH NHS GMS Phenotypes Gamma-glutamyl transpeptidase deficiency Glutathionuria (Disorders of the gamma-glutamyl cycle) Tags
Red 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 Global developmental delay, progressive ataxia, and elevated glutamine, MONDO:0032733 Tags for-review NGS Not Validated STR
Red Red List (low evidence)	HAL	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London North GLH NHS GMS Phenotypes Histidinaemia (Disorders of histidine, tryptophan or lysine metabolism) Tags
Red Red List (low evidence)	HYKK	1 review 1 red	Unknown	Sources Expert Review Red London North GLH NHS GMS Phenotypes Hydroxylysinuria (Disorders of histidine, tryptophan or lysine metabolism) Tags
Red Red List (low evidence)	IDH3B	2 reviews	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	KHK	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Essential fructosuria (Disorders of fructose metabolism) Tags
Red Red List (low evidence)	LACTB	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	LETM1	2 reviews 1 red	Unknown	Sources Expert Review Red Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Red Red List (low evidence)	LFNG	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) ?Spondylocostal dysostosis 3, autosomal recessive 609813 ?Spondylocostal dysostosis 3, autosomal recessive, 609813 LFNG-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Tags
Red Red List (low evidence)	LIPI	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London North GLH NHS GMS Phenotypes {Hypertriglyceridemia, susceptibility to}, 145750 Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias) Tags
Red Red List (low evidence)	MRPL12	4 reviews 1 green 2 red	Unknown	Sources Expert list Expert Review Red Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) No OMIM phenotype Tags
Red Red List (low evidence)	MRPL40	2 reviews 1 red	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	MRPS23	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes hepatic disease and combined respiratory chain complex deficiencies Tags
Red Red List (low evidence)	MTHFD1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes {Abruptio placentae, susceptibility to} {Spina bifida, folate-sensitive, susceptibility to} 601634 AR Tags
Red Red List (low evidence)	NAT8L	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?N-acetylaspartate deficiency 614063 Tags
Red Red List (low evidence)	NDUFA13	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Mitochondrial Diseases {Thyroid carcinoma, Hurthle cell}, 607464 Isolated complex I deficiency Tags
Red Red List (low evidence)	NDUFA3	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Isolated complex I deficiency Tags
Red Red List (low evidence)	NDUFA5	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Isolated complex I deficiency Tags
Red Red List (low evidence)	NDUFA7	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Isolated complex I deficiency Tags
Red Red List (low evidence)	NDUFA8	3 reviews	Unknown	Sources Expert Review Red Phenotypes Mitochondrial Diseases No OMIM phenotype Isolated complex I deficiency Tags
Red Red List (low evidence)	NDUFAB1	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Isolated complex I deficiency Tags
Red Red List (low evidence)	NDUFB1	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Isolated complex I deficiency Tags
Red Red List (low evidence)	NDUFB10	2 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Isolated complex I deficiency Tags
Red Red List (low evidence)	NDUFB2	1 review	Unknown	Sources Expert Review Red Phenotypes Isolated complex I deficiency Tags
Red Red List (low evidence)	NDUFB4	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Isolated complex I deficiency Tags
Red Red List (low evidence)	NDUFB5	1 review	Unknown	Sources Expert Review Red Phenotypes Isolated complex I deficiency Tags
Red Red List (low evidence)	NDUFB6	1 review	Unknown	Sources Expert Review Red Phenotypes Isolated complex I deficiency Tags
Red Red List (low evidence)	NDUFB7	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Isolated complex I deficiency Tags
Red Red List (low evidence)	NDUFC1	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Isolated complex I deficiency Tags
Red Red List (low evidence)	NDUFS5	2 reviews	Unknown	Sources Expert Review Red Phenotypes Mitochondrial Diseases No OMIM phenotype Isolated complex I deficiency Tags
Red Red List (low evidence)	NDUFV3	2 reviews	Unknown	Sources Expert Review Red Phenotypes Mitochondrial Diseases No OMIM phenotype Isolated complex I deficiency Tags
Red Red List (low evidence)	NFS1	4 reviews 1 green 2 red	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	NT5C	1 review 1 red	Unknown	Sources Expert Review Red London North GLH NHS GMS Phenotypes Pyrimidine - 5 - nucleotidase deficiency (Disorders of pyrimidine metabolism) Tags
Red Red List (low evidence)	NUP62	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Infantile striatal necrosis (Other metabolic disorders) Striatonigral degeneration, infantile, 271930 Tags
Red Red List (low evidence)	OGDH	3 reviews 1 green 2 red	Unknown	Sources Expert Review Red London North GLH NHS GMS Phenotypes 2-Oxoglutarate dehydrogenase deficiency (Disorders of the citric acid cycle) Alpha-ketoglutarate dehydrogenase deficiency, 203740 (1) (OXOGLUTARIC ACIDURIA) Alpha-ketoglutarate dehydrogenase deficiency, 203740 Tags
Red Red List (low evidence)	OXA1L	2 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	PCYT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Global developmental delay Developmental regression Intellectual disability Spastic paraparesis Seizures Spastic tetraparesis Cerebral atrophy Cerebellar atrophy Tags
Red Red List (low evidence)	PDK1	3 reviews 1 green 1 red	Unknown	Sources Expert Review Red London North GLH NHS GMS Phenotypes No OMIM phenotype Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) Tags
Red Red List (low evidence)	PDK2	2 reviews 1 red	Unknown	Sources Expert Review Red London North GLH NHS GMS Phenotypes No OMIM phenotype Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) Tags
Red Red List (low evidence)	PDK4	2 reviews 1 red	Unknown	Sources Expert Review Red London North GLH NHS GMS Phenotypes No OMIM phenotype Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) Tags
Red Red List (low evidence)	PDP2	4 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) Tags
Red Red List (low evidence)	PDPR	5 reviews 1 green 1 red	Unknown	Sources Expert Review Red London North GLH NHS GMS Phenotypes Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) Tags
Red Red List (low evidence)	PDXK	1 review 1 red	Unknown	Sources Expert Review Red London North GLH NHS GMS Phenotypes Pryridoxal kinase deficiency (Disorders of pyridoxine metabolism) Tags
Red Red List (low evidence)	PEX11A	1 review 1 red	Unknown	Sources Expert Review Red Literature Phenotypes Zellweger syndrome peroxisome proliferation mild peroxisomal biogenesis defect Tags
Red Red List (low evidence)	PHKG1	1 review 1 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	PHYKPL	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Hydroxylysinuria (Disorders of histidine, tryptophan or lysine metabolism) [?Phosphohydroxylysinuria] 615011 Tags
Red Red List (low evidence)	PIGW	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?Hyperphosphatasia with mental retardation syndrome 5 Tags
Red Red List (low evidence)	PNLIP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Pancreatic triacylglycerol lipase deficiency (Other disorders of lipid and lipoprotein metabolism) Pancreatic lipase deficiency 614338 Tags
Red Red List (low evidence)	PNPLA4	1 review 1 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	POP1	1 review	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	PPM1B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Hypotonia-cystinuria syndrome (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Red Red List (low evidence)	PPM1K	1 review 1 red	Unknown	Sources Expert Review Red Phenotypes ?Maple syrup urine disease, mild variant 615135 Tags
Red Red List (low evidence)	PREPL	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Hypotonia-cystinuria syndrome 606407 Hypotonia-cystinuria syndrome (Disorders of amino acid transport) Tags
Red Red List (low evidence)	PTCD1	1 review	Unknown	Sources Expert Review Red Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Red Red List (low evidence)	PTPRZ1	1 review 1 red	Unknown	Sources Expert Review Red London North GLH NHS GMS Phenotypes Hyperlysinaemia (Disorders of histidine, tryptophan or lysine metabolism) {H. pylori infection, susceptibility to} 600263 Tags
Red Red List (low evidence)	RNASEH2A	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Intellectual disability Intracerebral calcification disorders (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS4 Inherited white matter disorders Tags
Red Red List (low evidence)	RNASEH2B	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Intellectual disability (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS2 Intracerebral calcification disorders Inherited white matter disorders Tags
Red Red List (low evidence)	RNASEH2C	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Intellectual disability (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS3 Intracerebral calcification disorders Inherited white matter disorders Tags
Red Red List (low evidence)	ROBO3	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 Tags
Red Red List (low evidence)	SARDH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes [Sarcosinemia] 268900 Sarcosinaemia (Disorders of serine, glycine or glycerate metabolism) Tags
Red Red List (low evidence)	SCARB1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes [High density lipoprotein cholesterol level QTL6] 610762 Scavenger receptor class B type I deficiency (Inherited hypolipidaemias) Tags
Red Red List (low evidence)	SHPK	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Sedoheptulokinase deficiency (Other metabolic disorders) [Sedoheptulokinase deficiency] 617213 Tags
Red Red List (low evidence)	SLC22A4	1 review 1 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	SLC25A2	1 review 1 red	Unknown	Sources Expert Review Red London North GLH NHS GMS Phenotypes Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism) Tags
Red Red List (low evidence)	SLC25A40	1 review	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	SLC27A5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Bile acid CoA ligase deficiency (Disorders of bile acid biosynthesis) Tags
Red Red List (low evidence)	SLC35A3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Arthrogryposis, mental retardation, and seizures Tags
Red Red List (low evidence)	SLC36A2	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Iminoglycinuria, digenic 242600 Hyperglycinuria 138500 Hyperglycinuria AR Tags
Red Red List (low evidence)	SLC52A1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Riboflavin deficiency 615026 Tags
Red Red List (low evidence)	SLCO1B1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Hyperbilirubinemia, Rotor type, digenic Tags
Red Red List (low evidence)	SLCO1B3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Hyperbilirubinemia, Rotor type, digenic Tags
Red Red List (low evidence)	SRRT	2 reviews 1 red	Unknown	Sources Expert Review Red Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Red Red List (low evidence)	STT3B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?Congenital disorder of glycosylation, type Ix 615597 Tags
Red Red List (low evidence)	SUCLG2	2 reviews 1 red	Unknown	Sources Expert Review Red London North GLH NHS GMS Phenotypes Succinyl-CoA synthetase deficiency (Other metabolic disorders) No OMIM phenotype Tags
Red Red List (low evidence)	SUGCT	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Glutaric aciduria type III (Organic acidurias) Glutaric aciduria type III 231690 Tags
Red Red List (low evidence)	TCN1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Haptocorrin deficiency (Disorders of cobalamin absorption, transport and metabolism) No OMIM number Tags
Red Red List (low evidence)	TDO2	1 review 1 red	Unknown	Sources Expert Review Red London North GLH NHS GMS Phenotypes No OMIM number Tryptophanaemia (Disorders of histidine, tryptophan or lysine metabolism) Tags
Red Red List (low evidence)	TIMM44	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	TM6SF2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes non-alcoholic fatty liver disease Tags
Red Red List (low evidence)	TMEM126A	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Optic atrophy 7 612989 Tags
Red Red List (low evidence)	TPMT	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Thiopurine S-methyltransferase deficiency (Disorders of purine metabolism) {Thiopurines, poor metabolism of, 1} 610460 Tags
Red Red List (low evidence)	TREH	1 review 1 red	Unknown	Sources Expert Review Red London North GLH NHS GMS Phenotypes Trehalase deficiency (Other carbohydrate disorders) Tags
Red Red List (low evidence)	TXN2	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes infantile-onset neurodegenerative disorder with severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy ?Combined oxidative phosphorylation deficiency 29 Tags
Red Red List (low evidence)	UQCRC1	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	UQCRFS1	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	UQCRH	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	USF1	1 review 1 red	Unknown	Sources Expert Review Red London North GLH NHS GMS Phenotypes Familial combined hyperlipoproteinaemia (Inherited mixed hyperlipidaemias) Tags
Red Red List (low evidence)	VPS13C	5 reviews 1 green 2 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
No list No list	PNPLA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Phenotypes Neutral lipid storage disease with myopathy MIM#610717 Tags

Major version comments

2019-12-12 13:41 Sarah Leigh (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.426) was signed off under NHS Genomic Medicine Service governance on (12/12/2019). The panel was promoted to the next major version (version 2.0) as a result of this.

2019-01-08 14:24 Ellen McDonagh (Genomics England Curator) promoted panel to 1.0
Checked against super panel made up of the panel constituents. Ready to promote to version 1.

Inborn errors of metabolism (Version 2.105)

22 reviewers

903 Entities

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