Molecular autopsy (Version 0.116)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 1043 Entitiess
Green List (high evidence)	AARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only) Combined oxidative phosphorylation deficiency 8, 614096 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) infantile mitochondrial cardiomyopathy Tags
Green List (high evidence)	AASS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Intellectual disability Hyperlysinemia Hyperlysinaemia (Disorders of histidine, tryptophan or lysine metabolism) Tags
Green List (high evidence)	ABAT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 613163 mtDNA depletion syndrome GABA transaminase deficiency (Disorders of neurotransmitter metabolism, gamma-aminobutyrate) Tags
Green List (high evidence)	ABCA1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Tangier disease (Disorders of high density lipoprotein metabolism) Tags
Green List (high evidence)	ABCB11	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Progressive familial intrahepatic cholestasis type 2 (Disorders of bile acid metabolism and transport) Cholestasis, benign recurrent intrahepatic, 2 605479 Cholestasis, progressive familial intrahepatic 2 601847 Tags
Green List (high evidence)	ABCB4	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Progressive familial intrahepatic cholestasis type 3 (Disorders of bile acid metabolism and transport) Cholestasis, progressive familial intrahepatic 3 602347 AR Gallbladder disease 1 600803 AD, AR Cholestasis, intrahepatic, of pregnancy, 3 614972 AD, AR Tags
Green List (high evidence)	ABCB7	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes Disorders of iron homeostasis congenital cerebellar hypoplasia/atrophy (PMID: 26242992). Anemia, sideroblastic, with ataxia Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green List (high evidence)	ABCC9	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH North West GLH Phenotypes Dilated Cardiomyopathy, Dominant ventricular tachycardia Dilated cardiomyopathy short qt Brugada syndrome Cardiomyopathy, dilated, 1O (608569) Atrial fibrillation, familial, 12 (614050) Cardiomyopathy, dilated, 1O atrial fibrillation Tags
Green List (high evidence)	ABCD1	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes X-linked adrenoleukodystrophy (Disorders of peroxisomal alpha-, beta and omega-oxidation) Adrenoleukodystrophy 300100 Tags
Green List (high evidence)	ABCD4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria, cblJ type Tags
Green List (high evidence)	ABHD5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Chanarin-Dorfman syndrome 275630 Neutral lipid storage disease (Disorders of lipolysis) Tags
Green List (high evidence)	ACAD8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Isobutyric aciduria (Organic acidurias) Tags
Green List (high evidence)	ACAD9	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex I deficiency due to ACAD9 deficiency ACAD9 deficiency, 611126 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Isolated complex I deficiency Tags
Green List (high evidence)	ACADM	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Acyl-CoA dehydrogenase, medium chain, deficiency of Medium - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation) Tags
Green List (high evidence)	ACADS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Acyl-CoA dehydrogenase, short-chain, deficiency of Tags
Green List (high evidence)	ACADSB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 2-methylbutyrylglycinuria 610006 2-Methylbutyric aciduria (Organic acidurias) Tags
Green List (high evidence)	ACADVL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes VLCAD deficiency Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation) syndromic HCM Tags
Green List (high evidence)	ACAT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cytosolic acetoacetyl-CoA thiolase deficiency (Disorders of ketone body metabolism) Fasting intolerance with acidosis, ? residual neurological problems 3-Oxothiolase deficiency (Organic acidurias) Tags
Green List (high evidence)	ACO2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Infantile cerebellar-retinal degeneration, 614559 Tags
Green List (high evidence)	ACOX1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Peroxisomal acyl-CoA oxidase deficiency Peroxisomal acyl-CoA oxidase 1 deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation) Tags
Green List (high evidence)	ACSF3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Combined methylmalonic and malonic aciduria (Organic acidurias) Combined malonic and methylmalonic aciduria Tags
Green List (high evidence)	ACTC1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH North West GLH Phenotypes Left ventricular noncompaction 4 Atrial septal defect 5 (612794) Left ventricular noncompaction 4 (613424) Cardiomyopathy, hypertrophic, 11 (612098) Cardiomyopathy, dilated, 1R (613424) Hypertrophic Cardiomyopathy Cardiomyopathy, dilated, 1R Left Ventricular Noncompaction Cardiomyopathy Cardiomyopathy, familial hypertrophic, 11 Tags
Green List (high evidence)	ACTN2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH North West GLH Phenotypes Cardiomyopathy, dilated, 1AA, with or without LVNC (612158) Cardiomyopathy, hypertrophic, 23, with or without LVNC (612158) Dilated Cardiomyopathy, Dominant Tags
Green List (high evidence)	ADAR	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Aicardi-Goutieres syndrome 6 Tags
Green List (high evidence)	AFG3L2	0 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ataxia, spastic, 5, autosomal recessive, 614487 Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Spinocerebellar ataxia 28, 610246 Disorders of mitochondrial DNA maintenance and integrity Tags
Green List (high evidence)	AGA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Aspartylglucosaminuria Tags
Green List (high evidence)	AGK	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Mitochondrial DNA depletion syndrome 10 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Acylglycerol kinase deficiency (Senger syndrome) (Disorders of complex lipid synthesis) Sengers syndrome, 212350 Sengers syndrome 212350 Disorders of mitochondrial lipid metabolism Cataract 38, autosomal recessive, 614691 Tags
Green List (high evidence)	AGL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glycogen storage disease type III, Cori (Glycogen storage disorders) Glycogen Storage Disease Glycogen Storage Disorders- Liver Glycogen storage disease IIIb, 232400 syndromic HCM 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 List (high evidence)	AGPS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Rhizomelic chondrodysplasia punctata, type 3 600121 Rhizomelic chondrodysplasia punctata type 3 (Peroxisomal disorders) Tags
Green List (high evidence)	AGXT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Primary hyperoxaluria type I (Other peroxisomal disorders) Primary hyperoxaluria type I (Disorders of glyoxylate metabolism) Hyperoxaluria, primary, type 1 Tags
Green List (high evidence)	AIFM1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Disorders of mitochondrial apoptosis Cowchock syndrome, 310490 Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Combined oxidative phosphorylation deficiency 6, 300816 Tags
Green List (high evidence)	AKR1D1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ?4-3-oxysterol 5?-reductase deficiency (Disorders of bile acid biosynthesis) Bile acid synthesis defect, congenital, 2 235555 Tags
Green List (high evidence)	ALAD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes {Lead poisoning, susceptibility to} 612740 Acute hepatic porphyria (Acute neuropathic porphyrias) Porphyria, acute hepatic 612740 Tags
Green List (high evidence)	ALDH18A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypoprolinaemia, Cutis laxa, autosomal recessive, type IIIa (Disorders of ornithine or proline metabolism) Cutis laxa, autosomal recessive, type IIIA (Delta-1-pyrroline 5 carboxylic acid synthetase deficiency) 219150 Tags
Green List (high evidence)	ALDH4A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Intellectual disability Hyperprolinaemia type II (Disorders of ornithine or proline metabolism) Hyperprolinemia, type II Tags
Green List (high evidence)	ALDH5A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Succinic semialdehyde dehydrogenase deficiency Tags
Green List (high evidence)	ALDH6A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Methylmalonate semialdehyde dehydrogenase deficiency 614105 3-Hydroxyisobutyric aciduria (Organic acidurias) Methylmalonate semialdehyde dehydrogenase deficiency (Organic acidurias) Tags
Green List (high evidence)	ALDH7A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Epilepsy, pyridoxine-dependent Tags
Green List (high evidence)	ALDOA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glycogen Storage Disease Aldolase A deficiency (Glycogen storage disorders) Glycogen storage disease XII, 611881 Tags
Green List (high evidence)	ALDOB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes hereditary fructose intolerance Hereditary fructose intolerance (Disorders of fructose metabolism) acidosis with ketototic hypoglycaemia often hepatomegaly in acute presentation Tags
Green List (high evidence)	ALG1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mannosyltransferase 1 deficiency (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type Ik 608540 Tags
Green List (high evidence)	ALG11	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ALG11-CDG (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type Ip 613661 Tags
Green List (high evidence)	ALG12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ig 607143 Mannosyltransferase 8 deficiency (Disorders of protein N-glycosylation) Tags
Green List (high evidence)	ALG3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mannosyltransferase 6 deficiency ALG3-CDG (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type Id 601110 Mannosyltransferase 6 deficiency (Disorders of protein N-glycosylation) ALG3-CDG (Disorders of protein N-glycosylation) Tags
Green List (high evidence)	ALG6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ic 603147 Glucosyltransferase 1 deficiency (Disorders of protein N-glycosylation) Tags
Green List (high evidence)	ALG8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glucosyltransferase 2 deficiency (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type Ih 608104 Tags
Green List (high evidence)	ALG9	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mannosyltransferase 7-9 deficiency (Disorders of protein N-glycosylation) ALG9-CDG (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type Il 608776 Tags
Green List (high evidence)	AMACR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Alpha-methylacyl-CoA racemase deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation) Alpha-methylacyl-CoA racemase deficiency Tags
Green List (high evidence)	AMN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Intrinsic factor receptor deficiency due to AMN mutations (Disorders of cobalamin absorption, transport and metabolism) Proteinuric renal disease Unexplained kidney failure in young people Tags
Green List (high evidence)	AMT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glycine encephalopathy Tags
Green List (high evidence)	ANK2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH North West GLH Phenotypes Cardiac arrhythmia, ankyrin-B-related 600919 Long QT syndrome-4 Brugada/Brugada like syndrome catecholaminergic polymorphic ventricular tachycardia Cardiac arrhythmia, ankyrin-B-related (600919) Long QT syndrome 4 600919 Long QT syndrome 4 (600919) Tags
Green List (high evidence)	ANO10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 10, 613728 Tags
Green List (high evidence)	APOA1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Corneal clouding, autosomal recessive Apolipoprotein A-I deficiency (Disorders of high density lipoprotein metabolism) ApoA-I and apoC-III deficiency, combined Amyloidosis, 3 or more types 105200 Hypoalphalipoproteinemia 604091 Tags
Green List (high evidence)	APOA5	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperchylomicronemia, late-onset 144650 Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias) {Hypertriglyceridemia, susceptibility to} 145750 Tags
Green List (high evidence)	APOC2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperlipoproteinemia, type Ib 207750 Familial apolipoprotein C - II deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias) Tags
Green List (high evidence)	APOE	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Familial dysbetalipoproteinaemia (Inherited mixed hyperlipidaemias) Hyperlipoproteinemia, type III 617347 Sea-blue histiocyte disease 269600 Lipoprotein glomerulopathy 611771 Tags
Green List (high evidence)	APOPT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex IV deficiency, 220110 Isolated complex IV deficiency Tags new-gene-name
Green List (high evidence)	APRT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Adenine phosphoribosyltransferase deficiency 614723 Adenine phosphoribosyl transferase deficiency (Disorders of purine metabolism) Tags
Green List (high evidence)	APTX	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Ataxia with oculomotor apraxia 1 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 Disorders of ubiquinone metabolism and biosynthesis Tags
Green List (high evidence)	ARG1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Argininaemia (Urea cycle disorders and inherited hyperammonaemias) Argininemia 207800 Tags
Green List (high evidence)	ARSA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Metachromatic leukodystrophy Tags
Green List (high evidence)	ARSB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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 List (high evidence)	ARSE	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Chondrodysplasia punctata, X-linked recessive 302950 Tags new-gene-name
Green List (high evidence)	ASL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Argininosuccinic aciduria Argininosuccinic aciduria (Urea cycle disorders and inherited hyperammonaemias) Tags
Green List (high evidence)	ASPA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Canavan disease Tags
Green List (high evidence)	ASS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Citrullinaemia type1 (Urea cycle disorders and inherited hyperammonaemias) Citrullinemia Tags
Green List (high evidence)	ATAD3A	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Harel-Yoon syndrome 617183 Tags
Green List (high evidence)	ATIC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Intellectual disability AICAR transformylase deficiency (Disorders of purine metabolism) Tags
Green List (high evidence)	ATP13A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Kufor-Rakeb syndrome Tags
Green List (high evidence)	ATP6AP1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Immunodeficiency 47 Tags
Green List (high evidence)	ATP6V0A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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 List (high evidence)	ATP7A	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Menkes disease Tags
Green List (high evidence)	ATP7B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Wilson disease Tags
Green List (high evidence)	ATP8B1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cholestasis, progressive familial intrahepatic 1 211600 Cholestasis, benign recurrent intrahepatic 243300 AR Cholestasis, intrahepatic, of pregnancy, 1 147480 AD Byler disease (Disorders of bile acid metabolism and transport) Tags
Green List (high evidence)	ATPAF2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Mitochondrial Diseases Isolated complex V deficiency Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type Tags
Green List (high evidence)	AUH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 3-methylglutaconic aciduria, type I Methylglutaconic aciduria type I (Organic acidurias) Tags
Green List (high evidence)	B3GALNT2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies typeA 11 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 congenital muscular dystrophies Tags
Green List (high evidence)	B3GALT6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ehlers-Danlos syndrome, progeroid type, 2 Tags
Green List (high evidence)	B3GAT3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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 List (high evidence)	B3GLCT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Peters-plus syndrome 261540 O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Tags
Green List (high evidence)	B4GALT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Beta-1,4-galactosyltransferase 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways) Congenital disorder of glycosylation, type IId 607091 Tags
Green List (high evidence)	B4GALT7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ehlers-Danlos syndrome with short stature and limb anomalies 130070 B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies, Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Beta-1,4-galactosyltransferase 7 deficiency (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) Tags
Green List (high evidence)	B4GAT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287 Tags
Green List (high evidence)	BAAT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypercholanemia, familial Tags
Green List (high evidence)	BAG3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH Phenotypes Cardiomyopathy, dilated, 1HH Tags
Green List (high evidence)	BCKDHA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Maple syrup urine disease, type Ia BCKD E1 alpha subunit of deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria) Tags
Green List (high evidence)	BCKDHB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Maple syrup urine disease, type Ib BCKD E1 beta subunit of deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria) Tags
Green List (high evidence)	BCKDK	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Branched-chain ketoacid dehydrogenase kinase deficiency Tags
Green List (high evidence)	BCS1L	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Mitochondrial Diseases Isolated complex III deficiency Mitochondrial Respiratory Chain Complex III Deficiency Mitochondrial complex III deficiency, nuclear type 1, 124000 Leigh syndrome, 256000 Bjornstad syndrome, 262000 GRACILE syndrome, 603358 Tags
Green List (high evidence)	BOLA3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of iron homeostasis Hyperglycinaemia, non-ketotic (Baker (2014) Brain 137,366) Multiple Mitochondrial Dysfunctions Syndrome Multiple mitochondrial dysfunctions syndrome 2, 614299 Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green List (high evidence)	BRAF	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH Phenotypes syndromic HCM LEOPARD Syndrome Cardiofaciocutaneous Syndrome LEOPARD syndrome 3 Noonan Syndrome Cardio-facio-cutaneous syndrome Tags
Green List (high evidence)	BTD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Biotinidase deficiency (Disorders of biotin metabolism) Biotinidase deficiency lactic acidosis with seizures and eczema,immune deficiency Tags
Green List (high evidence)	C12orf65	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Spastic paraplegia 55, autosomal recessive, 615035 Combined oxidative phosphorylation deficiency 7, 613559 Tags new-gene-name
Green List (high evidence)	C19orf12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism) Neurodegeneration with brain iron accumulation 4, 614298 Mitochondrial Membrane Protein-Associated Neurodegeneration Tags
Green List (high evidence)	C1QBP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 33, MIM#617713 Combined oxidative phosphorylation deficiency 33 617713 Tags
Green List (high evidence)	CA5A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperammonemia due to carbonic anhydrase VA deficiency Hyperammonemia (Urea cycle disorders and inherited hyperammonaemias) Tags
Green List (high evidence)	CACNA1C	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH North West GLH Phenotypes Brugada syndrome 3 611875 syncope Hypertrophic cardiomyopathy Timothy syndrome (601005) scd brugada syndrome short qt Brugada syndrome Brugada syndrome 3 (611875) Brugada syndrome 3 Long QT syndrome Tags
Green List (high evidence)	CACNB2	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH North West GLH Phenotypes Brugada syndrome 4 Brugada syndrome 4 (611876) Short QT syndrome 5 brugada syndrome Brugada syndrome 4 611876 short qt Tags
Green List (high evidence)	CALM1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH North West GLH Phenotypes catecholaminergic polymorphic ventricular tachycardia Ventricular tachycardia, catecholaminergic polymorphic, 4 Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916) Long QT syndrome 14 Long QT syndrome 14 (616247) Tags
Green List (high evidence)	CALM2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Long QT syndrome 15 Tags
Green List (high evidence)	CASQ2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH North West GLH Phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 2 Ventricular tachycardia, catecholaminergic polymorphic, 2 (611938) Catecholaminergic polymorphic ventricular tachycardia Left ventricular non-compaction Hypertrophic cardiomyopathy Tags
Green List (high evidence)	CAT	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Acatalasaemia (Other peroxisomal disorders) Acatalasemia, 614097 Tags
Green List (high evidence)	CBL	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH Phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia Tags
Green List (high evidence)	CBS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Homocystinuria, B6-responsive and nonresponsive types Tags
Green List (high evidence)	CCDC115	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIo 616828 Tags new-gene-name
Green List (high evidence)	CHCHD10	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 ?Myopathy, isolated mitochondrial, autosomal dominant, 616209 Spinal muscular atrophy, Jokela type Tags
Green List (high evidence)	CHKB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Choline kinase deficiency (Disorders of complex lipid synthesis) Congenital Muscular Dystrophy, CKHB-related Muscular dystrophy, congenital, megaconial type, 602541 Tags
Green List (high evidence)	CHST14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1 601776 CHST14-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Tags
Green List (high evidence)	CHST3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations 143095 CHST3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Tags
Green List (high evidence)	CHST6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes CHST6-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Macular corneal dystrophy 217800 Tags
Green List (high evidence)	CHSY1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Temtamy preaxial brachydactyly syndrome 605282 CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Tags
Green List (high evidence)	CLN3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 3, 204200 Tags
Green List (high evidence)	CLN5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 5, 256731 Tags
Green List (high evidence)	CLN6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 6, 601780 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 Tags
Green List (high evidence)	CLN8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 8 Tags
Green List (high evidence)	CLPB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 3-methylglutaconic aciduria with the following: cataract, renal cysts and nephrocalcinosis cataract, neutropenia, epilepsy congenital microcephaly and severe encephalopathy progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder Tags
Green List (high evidence)	CLPP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Perrault syndrome 3, 614129 Tags
Green List (high evidence)	CNNM2	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypomagnesaemia type 6, renal (Disorder of magnesium metabolism) Hypomagnesemia 6, renal 613882 Hypomagnesemia, seizures, and mental retardation 616418 Tags
Green List (high evidence)	COG1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Component of COG complex 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) Congenital disorder of glycosylation, type IIg 611209 Tags
Green List (high evidence)	COG4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Component of COG complex 4 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) Congenital disorder of glycosylation, type IIj 613489 Tags
Green List (high evidence)	COG5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIi 613612 Component of COG complex 5 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) Tags
Green List (high evidence)	COG6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Component of COG complex 6 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) Shaheen syndrome 615328 Congenital disorder of glycosylation, type IIl 614576 Tags
Green List (high evidence)	COG7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Component of COG complex 7 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) Congenital disorder of glycosylation, type IIe 608779 Tags
Green List (high evidence)	COG8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIh 611182 Component of COG complex 8 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) Tags
Green List (high evidence)	COL12A1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bethlem myopathy 2 Ullrich congenital muscular dystrophy 2 Tags
Green List (high evidence)	COL6A1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bethlem myopathy, 158810 Ullrich congenital muscular dystrophy, 254090 Tags
Green List (high evidence)	COL6A2	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bethlem myopathy, 158810 Ullrich congenital muscular dystrophy, 254090 Tags
Green List (high evidence)	COL6A3	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bethlem myopathy, 158810 Ullrich congenital muscular dystrophy, 254090 Tags
Green List (high evidence)	COQ2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes {Multiple system atrophy, susceptibility to}, 146500 Coenzyme Q10 deficiency Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of ubiquinone metabolism and biosynthesis Coenzyme Q10 deficiency, primary, 1, 607426 Tags
Green List (high evidence)	COQ4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of ubiquinone metabolism and biosynthesis Coenzyme Q10 deficiency, primary, 7 Tags
Green List (high evidence)	COQ6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 6, 614650 Steroid-resistant nephrotic syndrome Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of ubiquinone metabolism and biosynthesis Tags
Green List (high evidence)	COQ8A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Coenzyme Q10 deficiency Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of ubiquinone metabolism and biosynthesis Coenzyme Q10 deficiency, primary, 4, 612016 Tags
Green List (high evidence)	COQ8B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Nephrotic syndrome, type 9 Tags
Green List (high evidence)	COQ9	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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 List (high evidence)	COX10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome coxidase deficiency Mitochondrial Diseases Mitochondrial Respiratory Chain Complex IV Deficiency Isolated complex IV deficiency Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Tags
Green List (high evidence)	COX14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex IV deficiency, 220110 Isolated complex IV deficiency Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Tags
Green List (high evidence)	COX15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH 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 List (high evidence)	COX20	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex IV deficiency, 220110 Isolated complex IV deficiency Complex IV Mitochondrial respiratory chain disorders caused by nuclear variants only OXPHOS assembly factors) Tags
Green List (high evidence)	COX6A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Charcot-Marie-Tooth disease, recessive intermediate D, 616039 Tags
Green List (high evidence)	COX6B1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial Diseases Mitochondrial Respiratory Chain Complex IV Deficiency Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Isolated complex IV deficiency Cytochrome c oxidase deficiency, 220110 Tags
Green List (high evidence)	COX7B	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes MICROPHTHALMIA WITH LINEAR SKIN LESIONS Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Isolated complex IV deficiency Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies, 300887 Linear skin defects with multiple congenital anomalies Tags
Green List (high evidence)	CP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cerebellar ataxia, 604290 Hemosiderosis, systemic, due to aceruloplasminemia, 604290 Tags
Green List (high evidence)	CPOX	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Harderoporphyria 121300 Coproporphyria 121300 Hereditary coproporphyria (Acute neuropathic porphyrias) Tags
Green List (high evidence)	CPS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Carbamoylphosphate synthetase I deficiency Carbamoylphosphate synthetase I deficiency (Urea cycle disorders and inherited hyperammonaemias) Tags
Green List (high evidence)	CPT1A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Carnitine palmitoyltransferase I (CPTI) deficiency (Disorders of carnitine transport and the carnitine cycle) CPT deficiency, hepatic, type IA Tags
Green List (high evidence)	CPT2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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 List (high evidence)	CSRP3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH North West GLH Phenotypes Cardiomyopathy, hypertrophic, 12 (612124) ?Cardiomyopathy, dilated, 1M (607482) Cardiomyopathy, familial hypertrophic, 12 Cardiomyopathy, dilated, 1M Tags
Green List (high evidence)	CTH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cystathioninuria, 219500 Tags
Green List (high evidence)	CTNS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cystinosis, atypical nephropathic Tags
Green List (high evidence)	CTSA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Galactosialidosis Tags
Green List (high evidence)	CTSD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 10, 610127 Tags
Green List (high evidence)	CTSK	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pycnodysostosis Tags
Green List (high evidence)	CUBN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Intrinsic factor receptor deficiency due to CUBN mutations (Disorders of cobalamin absorption, transport and metabolism) Megaloblastic anemia-1, Finnish type Proteinuric renal disease Unexplained kidney failure in young people Tags
Green List (high evidence)	CYC1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Isolated complex III deficiency Mitochondrial complex III deficiency, nuclear type 6, 615453 Tags
Green List (high evidence)	CYP27A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cerebrotendinous xanthomatosis, 213700 Tags
Green List (high evidence)	D2HGDH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes D-2-hydroxyglutaric aciduria Tags
Green List (high evidence)	DAG1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes congenital muscular dystrophies, MDDGA9 (WWS), also hyperckaemia and MDDG C9 Walker-Warburg syndrome Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 616538 congenital muscular dystrophies Tags
Green List (high evidence)	DARS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity Tags new-gene-name
Green List (high evidence)	DARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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 List (high evidence)	DBH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Dopamine beta-hydroxylase deficiency Tags
Green List (high evidence)	DBT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Dihydrolipoamide branched chain transacylase deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria) Maple syrup urine disease, type II Tags
Green List (high evidence)	DDC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Aromatic L-amino acid decarboxylase deficiency Tags
Green List (high evidence)	DES	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH North West GLH Phenotypes Scapuloperoneal syndrome, neurogenic, Kaeser type (181400) Cardiomyopathy, dilated, 1I, (604765) Cardiomyopathy, dilated, 1I, Myopathy, myofibrillar, 1 (601419) Tags
Green List (high evidence)	DGUOK	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Deoxyguanosine kinase deficiency (Disorders of purine metabolism) Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 Mitochondrial DNA Depletion Syndrome Disorders of mitochondrial DNA maintenance and integrity Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green List (high evidence)	DHFR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Dihydrofolate reductase deficiency (Disorders of folate metabolism and transport) Megaloblastic anemia due to dihydrofolate reductase deficiency Tags
Green List (high evidence)	DHTKD1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 2-Oxoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism) 2-aminoadipic and 2-oxoadipic aciduria, 204750 2-Aminoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism) Tags
Green List (high evidence)	DLAT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Dihydrolipoyl transacetylase deficiency (Disorders of pyruvate metabolism) Pyruvate dehydrogenase E2 deficiency, 245348 Tags
Green List (high evidence)	DLD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Dihydrolipoyl dehydrogenase deficiency (Disorders of pyruvate metabolism) Leigh syndrome Dihydrolipoamide dehydrogenase deficiency, 246900 Tags
Green List (high evidence)	DMD	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 South GLH Phenotypes Duchenne muscular dystrophy, 310200 Becker muscular dystrophy, 300376 Dilated Cardiomyopathy, X-Linked Cardiomyopathy, dilated, 3B Tags
Green List (high evidence)	DMPK_CTG STR	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Myotonic dystrophy 1 160900 Tags STR
Green List (high evidence)	DNA2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 615156 Disorders of mitochondrial DNA maintenance and integrity Tags
Green List (high evidence)	DNAJC12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 Tags
Green List (high evidence)	DNAJC19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH Phenotypes 3-methylglutaconic aciduria, type V, 610198 Disorders of the mitochondrial import system dilated cardiomyopathy with ataxia syndrome 3-methylglutaconic aciduria, type V Tags
Green List (high evidence)	DNAJC5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350 Tags
Green List (high evidence)	DNM1L	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388 Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green List (high evidence)	DOLK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH Phenotypes Congenital disorder of glycosylation, type Im 610768 syndromic DCM Congenital disorder of glycosylation, type Im Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) Tags
Green List (high evidence)	DPAGT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Myasthenic syndrome, congenital, 13, with tubular aggregates 614750 UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type Ij 608093 Tags
Green List (high evidence)	DPM1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) Congenital disorder of glycosylation, type Ie Congenital disorder of glycosylation, type Ie 608799 congenital muscular dystrophies Tags
Green List (high evidence)	DPM2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type Iu 615042 musclular dystrophy dystroglycanopathy syndrome with severe epilepsy Congenital disorder of glycosylation, type Iu 615042 Tags
Green List (high evidence)	DPYD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Dihydropyrimidine dehydrogenase deficiency 274270 Dihydropyrimidine dehydrogenase deficiency (Disorders of pyrimidine metabolism) Tags
Green List (high evidence)	DPYS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Dihydropyrimidinase deficiency (Disorders of pyrimidine metabolism) Tags
Green List (high evidence)	DSC2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH North West GLH Phenotypes Arrhythmogenic right ventricular dysplasia 11 Arrhythmogenic right ventricular dysplasia 11 (610476) Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair (610476) Tags
Green List (high evidence)	DSG2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH North West GLH Phenotypes Arrhythmogenic right ventricular dysplasia 10 (610193) Cardiomyopathy, dilated, 1BB (612877) Cardiomyopathy, dilated, 1BB, Arrhythmogenic right ventricular dysplasia 10 Tags
Green List (high evidence)	DSP	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH North West GLH Phenotypes Dilated cardiomyopathy with woolly hair and keratoderma Keratosis palmoplantaris striata II (612908) Skin fragility-woolly hair syndrome (607655) Arrhythmogenic right ventricular dysplasia 8 (607450) Epidermolysis bullosa, lethal acantholytic (609638) Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy, dilated, with woolly hair and keratoderma (605676) Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (615821) Tags
Green List (high evidence)	DYM	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388 Dyggve-Melchior-Clausen disease, 223800 Smith-McCort dysplasia, 607326 Tags
Green List (high evidence)	EARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 12, 614924 Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Green List (high evidence)	EBP	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes MEND syndrome 300960 XLR Chondrodysplasia punctata, X-linked dominant 302960 XLD X-linked dominant chondrodysplasia punctata 2 (Disorders of sterol biosynthesis) Tags
Green List (high evidence)	ECHS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency Tags
Green List (high evidence)	ELAC2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes infantile hypertrophic cardiomyopathy, lactic acidosis, and isolated complex I deficiency Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Combined oxidative phosphorylation deficiency 17, 615440 Tags
Green List (high evidence)	ENO3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ?Glycogen storage disease XIII Tags
Green List (high evidence)	EPG5	0 reviews	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 List (high evidence)	EPM2A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Epilepsy, progressive myoclonic 2A (Lafora) Tags
Green List (high evidence)	ETFA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Electron transfer flavoprotein deficiency, alpha chain (Disorders of mitochondrial fatty acid oxidation) Glutaric acidemia IIA Tags
Green List (high evidence)	ETFB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glutaric acidemia IIB Electron transfer flavoprotein deficiency, beta chain (Disorders of mitochondrial fatty acid oxidation) Tags
Green List (high evidence)	ETFDH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of ubiquinone metabolism and biosynthesis GLUTARIC ACIDURIA TYPE 2C Glutaric acidemia IIC ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation) Tags
Green List (high evidence)	ETHE1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ethylmalonic encephalopathy, 602473 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Isolated complex IV deficiency Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Ethylmalonic encephalopathy Tags
Green List (high evidence)	EXT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) Exostoses, multiple, type 1 133700 Tags
Green List (high evidence)	EXT2	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) Exostoses, multiple, type 2 133701 ?Seizures, scoliosis, and macrocephaly syndrome 616682 Tags
Green List (high evidence)	EYA4	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH North West GLH Phenotypes ?Cardiomyopathy, dilated, 1J (605362) Cardiomyopathy, dilated, 1J Deafness, autosomal dominant 10 (601316) Tags
Green List (high evidence)	FA2H	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Fatty acid 2-hydroxylase deficiency (Disorders of complex lipid synthesis) Early onset dystonia Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism) Hereditary spastic paraplegia Tags
Green List (high evidence)	FAH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Tyrosinemia, type I Tags
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 List (high evidence)	FARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Combined oxidative phosphorylation deficiency 14, 614946 Tags
Green List (high evidence)	FASTKD2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial Diseases Mitochondrial Respiratory Chain Complex IV Deficiency Mitochondrial complex IV deficiency, 220110 Isolated complex IV deficiency Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Tags
Green List (high evidence)	FBP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glycogen Storage Disease Glycogen Storage Disorders- Liver Fructose-1,6-bisphosphatase deficiency (Disorders of gluconeogenesis) Tags
Green List (high evidence)	FBXL4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes fatal encephalopathy, lactic acidosis, and severe MTDNA depletion in muscle. Disorders of mitochondrial DNA maintenance and integrity Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 Tags
Green List (high evidence)	FDXR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Auditory neuropathy and optic atrophy 617717 Tags
Green List (high evidence)	FH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Fumarase deficiency, 606812 Fumarase deficiency (Disorders of the citric acid cycle) Tags
Green List (high evidence)	FHL1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London South GLH North West GLH Phenotypes Reducing body myopathy, X-linked 1b, with late childhood or adult onset (300718) Myopathy, X-linked, with postural muscle atrophy (300696) ?Uruguay faciocardiomusculoskeletal syndrome (300280) Scapuloperoneal myopathy, X-linked dominant (300695) Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset (300717) Emery-Dreifuss muscular dystrophy 6, X-linked (300696) Tags
Green List (high evidence)	FKRP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH Phenotypes Fukutin-related protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153 Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155 Tags
Green List (high evidence)	FKTN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH Phenotypes Fukuyama congenital muscular dystrophy Cardiomyopathy, dilated, 1X Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800 Dilated Cardiomyopathy, Recessive Fukuyama Congenital Muscular Dystrophy Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588 Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Tags
Green List (high evidence)	FLAD1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Multiple acyl-CoA dehydrogenase deficiencies (MADDs) Tags
Green List (high evidence)	FMO3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Trimethylaminuria (Disorders and variants of enzymes that oxidise xenobiotics other than cytochrome P450) Tags
Green List (high evidence)	FOLR1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Neurodegeneration due to cerebral folate transport deficiency, 613068 Cerebral folate deficiency due to FOLR1 deficiency (Disorders of folate metabolism and transport) Tags
Green List (high evidence)	FOXRED1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial Diseases syndromic HCM Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010 Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green List (high evidence)	FUCA1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Fucosidosis, 230000 Tags
Green List (high evidence)	FUT8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation with defective fucosylation, 618005 Tags
Green List (high evidence)	FXN_GAA STR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Friedreich ataxia 229300 Tags STR
Green List (high evidence)	G6PC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glycogen Storage Disease Type I Glycogen Storage Disorders- Liver Glycogen Storage Disease Glycogen Storage Disease Ia Glycogen storage disease Ia, 232200 Glycogen storage disease type 1a, von Gierke (Glycogen storage disorders) Glycogen storage disease Ia fasting intolerance with enlarged liver, renal tubular disease Tags new-gene-name
Green List (high evidence)	G6PC3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Dursun syndrome Tags
Green List (high evidence)	GAA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH Phenotypes syndromic HCM Glycogen storage disease II, 232300 Tags
Green List (high evidence)	GABRG2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Febrile seizures, familial, 8 611277 Epilepsy, generalized, with febrile seizures plus, type 3 611277 {Epilepsy, childhood absence, susceptibility to, 2} 607681 Tags
Green List (high evidence)	GALC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Krabbe disease Tags
Green List (high evidence)	GALE	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Intellectual disability Uridine diphosphate galactose-4-epimerase deficiency (Disorders of galactose metabolism) Tags
Green List (high evidence)	GALK1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Galactokinase deficiency with cataracts, 230200 Tags
Green List (high evidence)	GALNS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 4A MPS IVA, Morquio A disease (MPS IV, Morquio disease) Mucopolysaccharidosis Type IVA Mucopolysaccharidosis IVA, 253000 Mucopolysaccharidosis, Type IV Tags
Green List (high evidence)	GALNT3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Polypeptide N-acetylgalactosaminyl transferase deficiency (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies) Tumoral calcinosis, hyperphosphatemic, familial 211900 Tags
Green List (high evidence)	GALT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Intellectual disability Classical galactosaemia (Disorders of galactose metabolism) Galactosemia Cataracts Tags
Green List (high evidence)	GARS	1 review	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 List (high evidence)	GATM	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Arginine:glycine amidinotransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism) arginine:glycine amidinotransferase deficiency Cerebral creatine deficiency syndrome 3, 612718 Tags
Green List (high evidence)	GBA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Gaucher disease, perinatal lethal, 608013 Gaucher disease, type III, 231000 Gaucher disease, type II, 230900 Gaucher disease, type I, 230800 Gaucher disease, type IIIC, 231005 Gaucher disease Gaucher disease (Sphingolipidoses) Tags
Green List (high evidence)	GBE1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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 List (high evidence)	GCDH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glutaricaciduria, type I, 231670 Tags
Green List (high evidence)	GCH1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia Tags
Green List (high evidence)	GCLC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Gamma-glutamylcysteine synthetase deficiency (Disorders of the gamma-glutamyl cycle) Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency 230450 Tags
Green List (high evidence)	GDAP1	0 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Charcot Marie Tooth disease (CMT4A) Charcot-Marie-Tooth disease, type 4A Charcot-Marie-Tooth disease, recessive intermediate, A Charcot-Marie-Tooth disease, axonal, with vocal cord paresis Charcot-Marie-Tooth disease, axonal, type 2K Tags
Green List (high evidence)	GFER	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Disorders of the mitochondrial import system Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076 Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green List (high evidence)	GFM1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 1, 609060 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green List (high evidence)	GFPT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Myasthenia, congenital, 12, with tubular aggregates(Disorders of protein N-glycosylation) 610542 Congenital myasthenic sydrome (Disorders of protein N-glycosylation) Tags
Green List (high evidence)	GIF	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Intrinsic factor deficiency Tags new-gene-name
Green List (high evidence)	GLA	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green London South GLH North West GLH Phenotypes syndromic HCM Fabry disease, cardiac variant (301500) Fabry disease, cardiac variant, 301500 Fabry disease (301500) Fabry disease, 301500 Fabry disease (Sphingolipidoses) Fabry Disease Tags
Green List (high evidence)	GLB1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes syndromic HCM 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 List (high evidence)	GLDC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glycine encephalopathy, 605899 Tags
Green List (high evidence)	GLRA1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperekplexia, hereditary 1, 149400 Tags
Green List (high evidence)	GLRX5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of iron homeostasis Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green List (high evidence)	GLUD1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Hyperinsulinemic hypoglycemia and hyperammonemia (Urea cycle disorders and inherited hyperammonaemias) Hyperinsulinism-hyperammonemia syndrome, 606762 Tags
Green List (high evidence)	GLYCTK	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes D-glyceric aciduria 220120 D-glyceric aciduria (Disorders of serine, glycine or glycerate metabolism) Tags
Green List (high evidence)	GM2A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes GM2-gangliosidosis, AB variant, 272750 Tags
Green List (high evidence)	GMPPB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 Tags
Green List (high evidence)	GNE	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Nonaka myopathy 605820 ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) UDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) Sialuria (Other lysosomal disorders) Tags
Green List (high evidence)	GNPAT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Rhizomelic chondrodysplasia punctata type 2 (Peroxisomal disorders) Rhizomelic chondrodysplasia punctata, type 2 222765 Tags
Green List (high evidence)	GNPTAB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mucolipidosis, Type II Mucolipidosis, Type III Alpha/Beta Mucolipidosis III alpha/beta Mucolipidosis II, I-cell disease (Other lysosomal disorders) Mucolipidosis II alpha/beta Tags
Green List (high evidence)	GNPTG	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mucolipidosis III, Pseudo-Hurler polydystrophy (Other lysosomal disorders) mucolipidpsis type III complementation group C Mucolipidosis, Type III Gamma Mucolipidosis III gamma Tags
Green List (high evidence)	GNS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MPS IIID, Sanfilippo D disease (Mucopolysaccharidoses) Mucopolysaccharidosis Type IIID Mucopolysaccharidosis type IIID, 252940 Mucopolysaccharidosis Type III Mucopolysaccharidosis, Type III Tags
Green List (high evidence)	GPD1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypertriglyceridemia, transient infantile, 614480 Tags
Green List (high evidence)	GPD1L	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH North West GLH Phenotypes Brugada syndrome 2 (611777) Brugada syndrome 2 Tags
Green List (high evidence)	GPHN	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Molybdenum cofactor deficiency C 615501 Mo cofactor deficiency, complementation group C (Disorders of molybdenum cofactor metabolism) epileptic encephalopathy Tags
Green List (high evidence)	GRHPR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Primary hyperoxaluria type II (Disorders of glyoxylate metabolism) Hyperoxaluria, primary, type II Tags
Green List (high evidence)	GSS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glutathione synthetase (GSS) deficiency Glutathione synthetase deficiency 266130 Glutathione synthetase deficiency with 5-oxoprolinuria Glutathione synthetase deficiency without 5-oxoprolinuria Pyroglutamic aciduria 5-oxoprolinuria Hemolytic anemia due to glutathione synthetase deficiency 231900 Glutathione synthetase deficiency (Disorders of the gamma-glutamyl cycle) Fanconi nephropathy Tags
Green List (high evidence)	GTPBP3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 23 mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis and encephalopathy Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Green List (high evidence)	GUSB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes syndromic HCM Mucopolysaccharidosis Type VII MPS VII, Sly disease (MPS IV, Morquio disease) Mucopolysaccharidosis VII, 253220 Mucopolysaccharidosis, Type VII MUCOPOLYSACCHARIDOSIS TYPE 7 Tags
Green List (high evidence)	GYG1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ?Glycogen storage disease XV Tags
Green List (high evidence)	GYS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glycogen storage disease 0, muscle Tags
Green List (high evidence)	GYS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glycogen Storage Disease Glycogen Storage Disease Type 0, Liver Glycogen Storage Disorders- Liver Glycogen storage disease type 0a, liver (Glycogen storage disorders) Glycogen storage disease, type 0, 240600 fasting intolerance without enlarged liver Tags
Green List (high evidence)	HAAO	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple congenital malformations VACTERL-like phenotype Tags
Green List (high evidence)	HADHA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH Phenotypes Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation) Trifunctional protein deficiency 609015 Tags
Green List (high evidence)	HADHB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation) Trifunctional protein deficiency 609015 Tags
Green List (high evidence)	HAMP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hemochromatosis, type 2B 613313 Hemochromatosis, type 2B 613313 Hereditary haemochromatosis Type 2 (Disorder of iron metabolism) Tags
Green List (high evidence)	HCCS	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green 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 List (high evidence)	HCFC1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) 309541 Tags
Green List (high evidence)	HCN4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH North West GLH Phenotypes Sick sinus syndrome 2 (163800) Brugada syndrome 8 Brugada syndrome 8 (613123) Tags
Green List (high evidence)	HEXA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes GM2-gangliosidosis, several forms, 272800 Tay-Sachs disease, 272800 Tags
Green List (high evidence)	HEXB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, 268800 Tags
Green List (high evidence)	HFE	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH Phenotypes Hemochromatosis, 235200 Hemochromatosis Hereditary haemochromatosis Type 1 (Disorder of iron metabolism) Tags
Green List (high evidence)	HFE2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hemochromatosis, type 2A, 602390 Hereditary haemochromatosis Type 2 (Disorder of iron metabolism) Tags new-gene-name
Green List (high evidence)	HGD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Alkaptonuria Tags
Green List (high evidence)	HGSNAT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mucopolysaccharidosis Type III Mucopolysaccharidosis, Type III Retinitis Pigmentosa 73 Mucopolysaccharidosis Type IIIC Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses) Tags
Green List (high evidence)	HIBCH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 HIBCH deficiency Methacrylic aciduria (Organic acidurias) Tags
Green List (high evidence)	HLCS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Holocarboxylase synthetase deficiency, 253270 Holocarboxylase synthetase deficiency lactic acidosis with seizures and eczema, immune deficiency Holocarboxylase synthetase deficiency (Disorders of biotin metabolism) Tags
Green List (high evidence)	HMBS	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Porphyria, acute intermittent, nonerythroid variant, 176000 Acute intermittent porphyria (Acute neuropathic porphyrias) Porphyria, acute intermittent, 176000 Tags
Green List (high evidence)	HMGCL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 3-Hydroxy-3-methyl glutaric aciduria (Organic acidurias) 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency HMG-CoA lyase deficiency, 246450 HMGCLD Tags
Green List (high evidence)	HMGCS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes HMG-CoA synthase-2 deficiency Tags
Green List (high evidence)	HOGA1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperoxaluria Type III (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Hyperoxaluria, primary, type III 613616 Tags
Green List (high evidence)	HPRT1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes HPRT-related gout Tags
Green List (high evidence)	HRAS	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH Phenotypes Costello syndrome syndromic HCM Tags
Green List (high evidence)	HSD17B4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes D-bifunctional protein deficiency, 261515 Peroxisomal D-bifunctional protein deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation) Tags
Green List (high evidence)	HSD3B7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 3- ?-hydroxysterol ?5-oxidoreductase/isomerase deficiency (Disorders of bile acid biosynthesis) Bile acid synthesis defect, congenital, 1, 607765 Tags
Green List (high evidence)	HSPD1	0 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Leukodystrophy, hypomyelinating, 4, 612233 Spastic paraplegia 13, autosomal dominant, 605280 Tags
Green List (high evidence)	HTRA2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 3-methylglutaconic aciduria, type VIII 617248 Tags
Green List (high evidence)	HYAL1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ?Mucopolysaccharidosis type IX, 601492 MPS IX, Natowicz (MPS IV, Morquio disease) Tags
Green List (high evidence)	IARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) CAGSSS - Cataracts (CA), growth hormone deficiency (G), sensory neuropathy (S), sensorineural hearing loss (S), and skeletal dysplasia (S) No OMIM phenotype Tags
Green List (high evidence)	IBA57	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ?Multiple mitochondrial dysfunctions syndrome 3, 615330 ?Spastic paraplegia 74, autosomal recessive Tags
Green List (high evidence)	IDH2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes D-2-hydroxyglutaric aciduria 2 Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias) D-2-hydroxyglutaric aciduria 2, 613657 Tags
Green List (high evidence)	IDS	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 2 MPS II, Hunter disease (Mucopolysaccharidoses) Mucopolysaccharidosis II, 309900 Mucopolysaccharidosis Type II Tags
Green List (high evidence)	IDUA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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 List (high evidence)	IER3IP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Microcephaly, epilepsy, and diabetes syndrome, 614231 MEDS Tags
Green List (high evidence)	INPP5K	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment Tags
Green List (high evidence)	17q11.2 recurrent region (includes NF1) Loss ISCA-37431-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors 613675 NF1 MICRODELETION SYNDROME Chromosome 17q11.2 deletion syndrome, 1.4Mb dysmorphic features, cardiac anomalies and mental retardation NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME Tags
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 List (high evidence)	ISPD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 614643 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 Congenital Muscular Dystrophy, alpha-dystroglycan related Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type 616052 Walker-Warburg syndrome (WWS) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 Tags new-gene-name
Green List (high evidence)	ITGA7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 Congenital Muscular Dystrophy, ITGA7-related Tags
Green List (high evidence)	ITPA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Inosine triphosphatase deficiency (Disorders of purine metabolism) Epileptic encephalopathy, early infantile, 35, 616647 [Inosine triphosphatase deficiency], 613850 Tags
Green List (high evidence)	IVD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections. Isovaleric acidemia Isovaleric aciduria (Organic acidurias) Tags
Green List (high evidence)	JUP	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH North West GLH Phenotypes Arrhythmogenic right ventricular dysplasia 12 Arrhythmogenic right ventricular dysplasia 12 (611528) Naxos disease (601214) Tags
Green List (high evidence)	KARS	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Deafness, autosomal recessive 89, 613916 Charcot-Marie-Tooth disease, recessive intermediate, B (Lysyl-tRNA synthetase mutations) (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags new-gene-name
Green List (high evidence)	KCNE1	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 South GLH North West GLH Phenotypes Jervell and Lange-Nielsen syndrome 2 (612347) Catecholaminergic polymorphic ventricular tachycardia Long QT syndrome Long QT syndrome-5 Long QT syndrome-5 (613695) Tags
Green List (high evidence)	KCNE2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH North West GLH Phenotypes Long QT syndrome-6 (613693) Atrial fibrillation, familial, 4 (611493) Long QT syndrome-6 Tags
Green List (high evidence)	KCNE3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH North West GLH Phenotypes Brugada syndrome ?Brugada syndrome 6 (613119) Brugada syndrome 6 Long QT syndrome Tags
Green List (high evidence)	KCNH2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH North West GLH Phenotypes Brugada Brugada/Brugada like syndrome Short QT syndrome 1 (609620) ventricular fibrillation atrial fibrillation cardiac arrest Short QT syndrome 1 609620 Long QT syndrome-2 (613688) Long QT syndrome 2 613688 short qt Long QT syndrome-2 Tags
Green List (high evidence)	KCNJ2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH North West GLH Phenotypes Atrial fibrillation, familial, 9 (613980) Short QT syndrome 3 609622 LONG QT SYNDROME 7 (170390) Short QT syndrome 3 (609622) catecholaminergic polymorphic ventricular tachycardia ANDERSEN SYNDROME (170390) Andersen syndrome (170390) ventricular tacyarrhythmia short qt atrial fibrillation Tags
Green List (high evidence)	KCNJ5	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH North West GLH Phenotypes Hyperaldosteronism, familial, type III (613677) Long QT syndrome 13 (613485) Long QT syndrome 13 Tags
Green List (high evidence)	KCNQ1	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 South GLH North West GLH Phenotypes Short QT syndrome 2 609621 Long QT syndrome-1 (192500) Short QT syndrome Hypertrophic cardiomyopathy Atrial fibrillation, familial, 3 (607554) Long QT syndrome-1 Short QT syndrome 2 (609621) Idiopathic Ventricular Fibrillation Short QT-interval syndrome Jervell and Lange-Nielsen syndrome (220400) Long QT syndrome Tags
Green List (high evidence)	KRAS	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH Phenotypes Cardiofaciocutaneous syndrome 2 Cardiofaciocutaneous Syndrome Cardio-Facio-Cutaneous syndrome Noonan syndrome 3 Noonan syndrome CFC syndrome Tags
Green List (high evidence)	KYNU	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism) VACTERL-like phenotype multiple congenital malformations ?Hydroxykynureninuria, 236800 Tags
Green List (high evidence)	L2HGDH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes L-2-hydroxyglutaric aciduria, 236792 Tags
Green List (high evidence)	LAMA2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH Phenotypes Congenital Muscular Dystrophy, LAMA2-related Muscular dystrophy, congenital merosin-deficient, 607855 Muscular dystrophy, congenital, due to partial LAMA2 deficiency 607855 Tags
Green List (high evidence)	LAMP2	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green London South GLH North West GLH Phenotypes Danon disease Danon disease (300257) syndromic HCM Tags
Green List (high evidence)	LARGE1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital Muscular Dystrophy, alpha-dystroglycan related N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154 N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 Tags
Green List (high evidence)	LARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Perrault syndrome Perrault syndrome 4, 615300 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green List (high evidence)	LCAT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Norum disease/LCAT deficiency, 245900 Fish-eye disease, 136120 Lecithin cholesterol acyltransferase deficiency (Disorders of high density lipoprotein metabolism) Tags
Green List (high evidence)	LCT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lactose intolerance (Other carbohydrate disorders) Lactase deficiency, congenital, 223000 Tags
Green List (high evidence)	LDB3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH Phenotypes Cardiomyopathy, dilated 1C Left ventricular noncompaction 3, with or without dilated cardiomyopathy Tags
Green List (high evidence)	LDHA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glycogen Storage Disease Glycogen storage disease XI, 612933 Muscle LDH deficiency (Glycogen storage disorders) Tags
Green List (high evidence)	LIAS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462 Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green List (high evidence)	LIPA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cholesteryl ester storage disease Tags
Green List (high evidence)	LIPT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lipoyltransferase 1 deficiency Tags
Green List (high evidence)	LMBRD1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria, cblF type, 277380 Tags
Green List (high evidence)	LMNA	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH North West GLH Phenotypes Emery-Dreifuss muscular dystrophy 2, autosomal dominant (181350) Lipodystrophy, familial partial, type 2 (151660) Malouf syndrome (212112) Mandibuloacral dysplasia (248370) Cardiomyopathy, dilated, 1A (115200) Muscular dystrophy, congenital (613205) Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Hutchinson-Gilford progeria (176670) Heart-hand syndrome, Slovenian type (610140) Emery-Dreifuss muscular dystrophy 2, AD, 181350 Cardiomyopathy, dilated, 1A Charcot-Marie-Tooth disease, type 2B1 (605588) Restrictive dermopathy, lethal (275210) Congenital Muscular Dystrophy, LMNA-related (Dominant) Emery-Dreifuss muscular dystrophy 3, autosomal recessive (616516) Tags
Green List (high evidence)	LONP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373) Tags
Green List (high evidence)	LPIN1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Myoglobinuria, acute recurrent, autosomal recessive Tags
Green List (high evidence)	LPL	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lipoprotein lipase deficiency, 238600 Combined hyperlipidemia, familial, 144250 Familial lipoprotein lipase deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias) Tags
Green List (high evidence)	LRPPRC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leigh syndrome, French-Canadian type, 220111 Mitochondrial Diseases Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Isolated complex IV deficiency Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Tags
Green List (high evidence)	LZTR1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes cardiac findings Noonan syndrome 10 increased nuchal translucency Prenatal hydrops Tags
Green List (high evidence)	MAN1B1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MAN1B1-CDG (Disorders of protein N-glycosylation) Mental retardation, autosomal recessive 15 614202 Tags
Green List (high evidence)	MAN2B1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mannosidosis, alpha-, types I and II Tags
Green List (high evidence)	MAP2K1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH Phenotypes syndromic HCM LEOPARD syndrome Cardiofaciocutaneous Syndrome Cardio-Facio-Cutaneous syndrome CFC syndrome Cardiofaciocutaneous syndrome 3 ?Noonan syndrome Tags
Green List (high evidence)	MAP2K2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH Phenotypes syndromic HCM Cardiofaciocutaneous Syndrome Cardio-Facio-Cutaneous syndrome CFC syndrome Cardio-Facio-Cutaneous syndrome type 4 Cardiofaciocutaneous syndrome 4 Tags
Green List (high evidence)	MARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spastic Ataxia 13, autosomal recessive, 611390 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) ?Combined oxidative phosphorylation deficiency 25 Tags
Green List (high evidence)	MAT1A	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency Tags
Green List (high evidence)	MCCC1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 Tags
Green List (high evidence)	MCCC2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 Tags
Green List (high evidence)	MCEE	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Methylmalonyl-CoA epimerase deficiency (Organic acidurias) Methylmalonyl-CoA epimerase deficiency metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections Tags
Green List (high evidence)	MCOLN1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mucolipidosis, Type IV Mucolipidosis IV (Other lysosomal disorders) Tags
Green List (high evidence)	MDH2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 51 617339 Tags
Green List (high evidence)	MFF	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2 Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green List (high evidence)	MFN2	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Charcot-Marie-Tooth disease, type 2A2, 609260 Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of mitochondrial DNA maintenance and integrity Hereditary motor and sensory neuropathy VI, 601152 Tags
Green List (high evidence)	MFSD8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 7 610951 Tags
Green List (high evidence)	MGAT2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes N-acetylglucosaminyltransferase deficiency (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type IIa 212066 Tags
Green List (high evidence)	MGME1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Mitochondrial DNA depletion syndrome 11, 615084 Disorders of mitochondrial DNA maintenance and integrity Tags
Green List (high evidence)	MICU1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes myopathy with extrapyramidal signs Tags
Green List (high evidence)	MLYCD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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 List (high evidence)	MMAA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Methylmalonic aciduria, vitamin B12-responsive 251100 Defect in adenosylcobalamin synthesis-cbl A (Disorders of cobalamin absorption, transport and metabolism) Tags
Green List (high evidence)	MMAB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Defect in adenosylcobalamin synthesis-cbl B (Disorders of cobalamin absorption, transport and metabolism) Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type 251110 Tags
Green List (high evidence)	MMACHC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria, cblC type, 277400 Tags
Green List (high evidence)	MMADHC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Homocystinuria, cblD type, variant 1 Tags
Green List (high evidence)	MOGS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIb 606056 MOGS-CDG (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type IIb, 606056 (MOGS-CDG (Disorders of protein N-glycosylation)) Tags
Green List (high evidence)	MPDU1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type If 609180 Lec35 deficiency (Disorders of multiple glycosylation and other glycosylation pathways) Tags
Green List (high evidence)	MPI	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Phosphomannose isomerase deficiency (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type Ib 602579 Tags
Green List (high evidence)	MPV17	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial DNA Depletion Syndrome Disorders of mitochondrial DNA maintenance and integrity Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 -3 Tags
Green List (high evidence)	MRPL44	1 review	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 List (high evidence)	MRPS22	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 5, 611719 Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Green List (high evidence)	MRPS34	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 32 617664 Tags
Green List (high evidence)	MSMO1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Sterol-C4-methyl oxidase deficiency (Disorders of sterol biosynthesis) (SC4MOL DEFICIENCY) Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834 Tags
Green List (high evidence)	MT-ATP6	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-ATP8	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Phenotypes BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY CARDIOMYOPATHY, INFANTILE HYPERTROPHIC Tags
Green List (high evidence)	MT-CO1	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Phenotypes CYTOCHROME c OXIDASE I DEFICIENCY SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC LEBER OPTIC ATROPHY MYOGLOBINURIA, RECURRENT CYTOCHROME c OXIDASE DEFICIENCY Tags
Green List (high evidence)	MT-CO2	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Phenotypes CYTOCHROME c OXIDASE DEFICIENCY Tags
Green List (high evidence)	MT-CO3	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-CYB	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Phenotypes CARDIOMYOPATHY, INFANTILE HISTIOCYTOID ENCEPHALOMYOPATHY, MITOCHONDRIAL MULTISYSTEM DISORDER PARKINSONISM/MELAS OVERLAP SYNDROME EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA EXERCISE INTOLERANCE LEBER OPTIC ATROPHY Tags
Green List (high evidence)	MT-ND1	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MELAS SYNDROME MITOCHONDRIAL COMPLEX I DEFICIENCY LEBER OPTIC ATROPHY DYSTONIA, ADULT-ONSET DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL SUDDEN INFANT DEATH SYNDROME Tags
Green List (high evidence)	MT-ND2	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY LEBER OPTIC ATROPHY LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY Tags
Green List (high evidence)	MT-ND3	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY Tags
Green List (high evidence)	MT-ND4	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MELAS SYNDROME LEBER OPTIC ATROPHY AND DYSTONIA LEBER OPTIC ATROPHY MITOCHONDRIAL COMPLEX I DEFICIENCY Tags
Green List (high evidence)	MT-ND4L	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Phenotypes LEBER OPTIC ATROPHY Tags
Green List (high evidence)	MT-ND5	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MELAS SYNDROME MERRF SYNDROME LEBER OPTIC ATROPHY LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY Tags
Green List (high evidence)	MT-ND6	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MELAS SYNDROME STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA LEBER OPTIC ATROPHY AND DYSTONIA LEBER OPTIC ATROPHY LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY Tags
Green List (high evidence)	MT-RNR1	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Phenotypes DEAFNESS, AMINOGLYCOSIDE-INDUCED DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL AUDITORY NEUROPATHY CARDIOMYOPATHY, RESTRICTIVE Tags
Green List (high evidence)	MT-TA	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MITOCHONDRIAL MYOPATHY MYOTONIC DYSTROPHY-LIKE MYOPATHY Tags
Green List (high evidence)	MT-TC	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MELAS SYNDROME DYSTONIA, MITOCHONDRIAL Tags
Green List (high evidence)	MT-TD	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MITOCHONDRIAL MYOPATHY, ISOLATED Tags
Green List (high evidence)	MT-TE	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS DIABETES AND DEAFNESS, MATERNALLY INHERITED MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT Tags
Green List (high evidence)	MT-TF	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-TG	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-TH	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-TI	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-TK	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-TL1	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-TL2	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-TM	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-TN	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-TP	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-TQ	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-TR	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-TS1	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-TS2	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-TV	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-TW	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-TY	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MTHFR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Methylenetetrahydrofolate reductase deficiency (Disorders of folate metabolism and transport) Homocystinuria due to MTHFR deficiency Tags
Green List (high evidence)	MTO1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 10, 614702 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) infantile hypertrophic cardiomyopathy and lactic acidosis. Tags
Green List (high evidence)	MTR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Homocystinuria-megaloblastic anemia, cblG complementation type Tags
Green List (high evidence)	MTRR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Homocystinuria-megaloblastic anemia, cbl E type Tags
Green List (high evidence)	MTTP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Familial abetalipoproteinaemia (Inherited hypolipidaemias) (ACANTHOCYTOSIS, BASSEN-KORNZWEIG SYNDROME, MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY, MTP DEFICIENCY) Abetalipoproteinemia, 200100 Tags
Green List (high evidence)	MUT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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 List (high evidence)	MYBPC3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH North West GLH Phenotypes Cardiomyopathy, hypertrophic, 4 (115197) Left ventricular noncompaction 10 (615396) Cardiomyopathy, dilated, 1MM Hypertrophic cardiomyopathy Left ventricular noncompaction 10, Cardiomyopathy, familial hypertrophic, 4, Cardiomyopathy, dilated, 1MM (615396) Tags
Green List (high evidence)	MYH6	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH North West GLH Phenotypes Cardiomyopathy, hypertrophic, 14 (613251) Atrial septal defect 3 (614089) Cardiomyopathy, dilated, 1EE {Sick sinus syndrome 3} (614090) Cardiomyopathy, familial hypertrophic, 14 Cardiomyopathy, dilated, 1EE (613252) Tags
Green List (high evidence)	MYH7	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH North West GLH Phenotypes Left ventricular noncompaction 5 (613426) Myopathy, myosin storage, autosomal dominant (608358) Cardiomyopathy, familial hypertrophic, 1, Hypertrophic cardiomyopathy Laing distal myopathy (160500) Cardiomyopathy, dilated, 1S Myopathy, myosin storage, autosomal recessive (255160) Cardiomyopathy, hypertrophic, 1 (192600) Left ventricular noncompaction 5 Cardiomyopathy, dilated, 1S (613426) Scapuloperoneal syndrome, myopathic type (181430) Tags
Green List (high evidence)	MYL2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH North West GLH Phenotypes Cardiomyopathy, familial hypertrophic, 10 Cardiomyopathy, familial hypertrophic, 10 (608758) Tags
Green List (high evidence)	MYL3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH North West GLH Phenotypes Cardiomyopathy, familial hypertrophic, 8, Cardiomyopathy, familial hypertrophic, 8 (608751) Tags
Green List (high evidence)	MYMK	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Carey-Fineman-Ziter syndrome Tags
Green List (high evidence)	NAGA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Kanzaki disease Tags
Green List (high evidence)	NAGLU	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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 List (high evidence)	NAGS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes N-Acetylglutamate synthetase deficiency (Urea cycle disorders and inherited hyperammonaemias) N-acetylglutamate synthase deficiency Tags
Green List (high evidence)	NARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Combined oxidative phosphorylation deficiency 24 Tags
Green List (high evidence)	NDUFA1	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green 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 List (high evidence)	NDUFA10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial Diseases Mitochondrial Respiratory Chain Complex I Deficiency Leigh syndrome, 256000 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Isolated complex I deficiency Tags
Green List (high evidence)	NDUFA11	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex I Deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Isolated complex I deficiency Tags
Green List (high evidence)	NDUFA2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex I Deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Isolated complex I deficiency Tags
Green List (high evidence)	NDUFAF1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex I Deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Isolated complex I deficiency Tags
Green List (high evidence)	NDUFAF2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex I deficiency, 252010 Mitochondrial Respiratory Chain Complex I Deficiency Leigh syndrome, 256000 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Isolated complex I deficiency Tags
Green List (high evidence)	NDUFAF3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex I Deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Isolated complex I deficiency Tags
Green List (high evidence)	NDUFAF4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex I Deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Isolated complex I deficiency Tags
Green List (high evidence)	NDUFAF5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex 1 deficiency, 252010 Mitochondrial Diseases Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Isolated complex I deficiency Tags
Green List (high evidence)	NDUFAF6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Isolated complex I deficiency Tags
Green List (high evidence)	NDUFB11	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes histiocytoid cardiomyopathy microphthalmia with linear skin defects syndrome Linear skin defects with multiple congenital anomalies 3 Isolated complex I deficiency Tags
Green List (high evidence)	NDUFB3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex I deficiency, 252010 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Isolated complex I deficiency Tags
Green List (high evidence)	NDUFS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex I Deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Isolated complex I deficiency Tags
Green List (high evidence)	NDUFS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex I Deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Isolated complex I deficiency Tags
Green List (high evidence)	NDUFS3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial Diseases Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010 Mitochondrial Respiratory Chain Complex I Deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Isolated complex I deficiency Tags
Green List (high evidence)	NDUFS4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leigh syndrome, 256000 Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex I Deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Isolated complex I deficiency Tags
Green List (high evidence)	NDUFS6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial Diseases Mitochondrial Respiratory Chain 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) Isolated complex I deficiency Tags
Green List (high evidence)	NDUFS7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial Diseases Mitochondrial Respiratory Chain Complex I Deficiency Leigh syndrome, 256000 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Isolated complex I deficiency Tags
Green List (high evidence)	NDUFS8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex I Deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Isolated complex I deficiency Tags
Green List (high evidence)	NDUFV1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex I Deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Isolated complex I deficiency Tags
Green List (high evidence)	NDUFV2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex I deficiency, 252010 Mitochondrial Respiratory Chain Complex I Deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Isolated complex I deficiency Tags
Green List (high evidence)	NEU1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Sialidosis type II Sialidosis, type I Sialidosis (Oligosaccharidoses) Mucolipidosis, Type I Sialidosis Tags
Green List (high evidence)	NEXN	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH North West GLH Phenotypes Cardiomyopathy, dilated, 1CC Cardiomyopathy, dilated, 1CC (613122) Cardiomyopathy, familial hypertrophic, 20, Cardiomyopathy, hypertrophic, 20 (613876) Tags
Green List (high evidence)	NF1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Noonan syndrome Neurofibromatosis syndrome 1 Neurofibromatosis-Noonan Syndrome Neurofibromatosis Noonan syndrome Tags
Green List (high evidence)	NFU1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple mitochondrial dysfunctions syndrome 1 Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green List (high evidence)	NGLY1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes OrphaNet: ORPHA404454 Congenital disorder of deglycosylation 615273 Alacrimia-choreoathetosis-liver dysfunction syndrome OMIM:615273 Tags
Green List (high evidence)	NHLRC1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Epilepsy, progressive myoclonic 2B (Lafora) Tags
Green List (high evidence)	NPC1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Niemann-Pick disease, type C1 Tags
Green List (high evidence)	NPC2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Niemann-Pick disease type C2, 607625 Tags
Green List (high evidence)	NRAS	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH Phenotypes Noonan syndrome 6 CFC Syndrome Noonan syndrome Cardio-Facio-cutanenous syndrome syndromic HCM Tags
Green List (high evidence)	NSDHL	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes Congenital hemidysplasia with ichtyosiform erythroderma and limb defects (Disorders of sterol biosynthesis) CHILD syndrome 308050 XLD CK syndrome 300831 XLR Tags
Green List (high evidence)	NT5C3A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Anemia, hemolytic, due to UMPH1 deficiency, 266120 Uridine-5 -monophosphate hydrolase superactivity (Disorders of pyrimidine metabolism) Tags
Green List (high evidence)	NUBPL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex I Deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Isolated complex I deficiency Tags
Green List (high evidence)	OAT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ornithine aminotransferase deficiency (Disorders of ornithine or proline metabolism) Gyrate atrophy of choroid and retina with or without ornithinemia Tags
Green List (high evidence)	OPA1	0 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Optic atrophy plus syndrome, 125250 {Glaucoma, normal tension, susceptibility to}, 606657 Disorders of mitochondrial DNA maintenance and integrity Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions Optic atrophy 1, 165500 Mitochondrial DNA Depletion Syndrome Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green List (high evidence)	OPA3	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300 Methylglutaconic aciduria type III, Costeff syndrome (Organic acidurias) Tags
Green List (high evidence)	OTC	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes Ornithine transcarbamylase deficiency, 311250 Ornithine transcarbamylase deficiency (Urea cycle disorders and inherited hyperammonaemias) Tags
Green List (high evidence)	OXCT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Succinyl CoA:3-oxoacid CoA transferase deficiency severe ketosis on fasting often ketotic in fed state no hepatomegaly Succinyl-CoA:3-Oxoacid-CoA transferase (SCOT) deficiency (Disorders of ketone body metabolism) Succinyl CoA:3-oxoacid CoA transferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green List (high evidence)	PAH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Phenylketonuria Tags
Green List (high evidence)	PC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pyruvate carboxylase deficiency (Disorders of gluconeogenesis) lactic acidosis, hypotonia, encephalopathy Pyruvate carboxylase deficiency 266150 Pyruvate carboxylase deficiency Tags
Green List (high evidence)	PCBD1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperphenylalaninemia, BH4-deficient, D Tags
Green List (high evidence)	PCCA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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 List (high evidence)	PCCB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections) Propionic acidemia Propionic aciduria (Organic acidurias) Propionicacidemia 606054 Propionicacidemia Tags
Green List (high evidence)	PDHA1	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes Pyruvate dehydrogenase E1? subunit deficiency (Disorders of pyruvate metabolism) Pyruvate dehydrogenase E1-alpha deficiency, 312170 Leigh syndrome, X-linked, 308930 Tags
Green List (high evidence)	PDHB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pyruvate dehydrogenase E1? subunit deficiency (Disorders of pyruvate metabolism) Pyruvate dehydrogenase E1-beta deficiency, 614111 Tags
Green List (high evidence)	PDHX	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lacticacidemia due to PDX1 deficiency Pyruvate dehydrogenase E3 binding protein deficiency (Disorders of pyruvate metabolism) Tags
Green List (high evidence)	PDP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pyruvate dehydrogenase phosphatase deficiency, 608782 Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) Tags
Green List (high evidence)	PDSS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 2, 614651 Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of ubiquinone metabolism and biosynthesis Tags
Green List (high evidence)	PDSS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 3, 614652 Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of ubiquinone metabolism and biosynthesis Tags
Green List (high evidence)	PET100	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leigh syndrome Mitochondrial complex IV deficiency, 220110 Isolated complex IV deficiency Tags
Green List (high evidence)	PEX1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 1B (NALD/IRD) 601539 Peroxisome biogenesis disorder 1A (Zellweger) 214100 Tags
Green List (high evidence)	PEX10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 6A (Zellweger) 614870 Peroxisome biogenesis disorder 6B 614871 Tags
Green List (high evidence)	PEX11B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Peroxisome biogenesis disorder 14B Tags
Green List (high evidence)	PEX12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 3A (Zellweger), 614859 Peroxisome biogenesis disorder 3B Tags
Green List (high evidence)	PEX13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 11A (Zellweger) Tags
Green List (high evidence)	PEX14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 13A (Zellweger) Tags
Green List (high evidence)	PEX16	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of peroxisome biogenesis Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum Peroxisome biogenesis disorder 8A, (Zellweger), 614876 Peroxisomal biogenesis disorders Zellweger Syndrome Tags
Green List (high evidence)	PEX19	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 12A (Zellweger) Tags
Green List (high evidence)	PEX2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 5A (Zellweger), 614866 Peroxisome biogenesis disorder 5B, 614867 Tags
Green List (high evidence)	PEX26	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 7A (Zellweger) 61487 Peroxisome biogenesis disorder 7B 614873 Tags
Green List (high evidence)	PEX3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 10A (Zellweger) 614882 Tags
Green List (high evidence)	PEX5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 2A (Zellweger) Tags
Green List (high evidence)	PEX6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 4B 614863 Peroxisome biogenesis disorder 4A (Zellweger) 614862 Tags
Green List (high evidence)	PEX7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Peroxisome biogenesis disorder 9B 614879 Rhizomelic chondrodysplasia punctata, type 1 Rhizomelic chondrodysplasia punctata type 1 (Peroxisomal disorders) Tags
Green List (high evidence)	PFKM	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glycogen storage disease VII Tags
Green List (high evidence)	PGAP2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperphosphatasia with mental retardation syndrome 3 614207 PGAP2-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Tags
Green List (high evidence)	PGAP3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperphosphatasia with mental retardation syndrome 4 Tags
Green List (high evidence)	PGK1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Phosphoglycerate kinase 1 deficiency Tags
Green List (high evidence)	PGM1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glycogen Storage Disease Congenital disorder of deglycosylation 615273 Glycogen storage disease type XIV (Glycogen storage disorders) Congenital disorder of glycosylation, type It, 614921 Glycogen Storage Disorders- Muscle Glycogen Storage Disease Type XIV Glycogen storage disease XIV, 612934 Tags
Green List (high evidence)	PGM3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 23 Tags
Green List (high evidence)	PHKA1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Muscle glycogenosis, 300559 Tags
Green List (high evidence)	PHKA2	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Glycogen Storage Disease Glycogen Storage Disorders- Liver Glycogen storage disease, type IXa2, 306000 Glycogen storage disease, type IXa1, 306000 hepatomegaly and mild hypoglycaemia Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency (Glycogen storage disorders) Tags
Green List (high evidence)	PHKB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes hepatomegaly and variable myopathy Glycogen Storage Disorders- Liver Glycogen Storage Disorders- Muscle Glycogen Storage Disease Glycogen storage disease type IX Hepatic and muscle phosphorylase kinase deficiency (Glycogen storage disorders) Tags
Green List (high evidence)	PHKG2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes hepatomegaly and variable myopathy Glycogen Storage Disorders- Liver Glycogen Storage Disease Glycogen storage disease IXc, 613027 Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency with cirrhosis (Glycogen storage disorders) Cirrhosis due to liver phosphorylase kinase deficiency Tags
Green List (high evidence)	PHOX2B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes USID CCHS sudden infant death syndrome Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 Congenital Central Hypoventilation Syndrome unclassified sudden infant death Tags
Green List (high evidence)	PHYH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Refsum disease, 266500 Refsum disease (Disorders of peroxisomal alpha-, beta and omega-oxidation) Tags
Green List (high evidence)	PIGA	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 2 300868 PIGA-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Tags
Green List (high evidence)	PIGL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PIGL-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) CHIME syndrome 280000 Tags
Green List (high evidence)	PIGN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PIGN-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Multiple congenital anomalies-hypotonia-seizures syndrome 1 Tags
Green List (high evidence)	PIGO	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperphosphatasia (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Hyperphosphatasia with mental retardation syndrome 2 614749 Tags
Green List (high evidence)	PIGT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 3 Tags
Green List (high evidence)	PIGV	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperphosphatasia (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Hyperphosphatasia with mental retardation syndrome 1 239300 (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Tags
Green List (high evidence)	PKP2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH North West GLH Phenotypes Arrhythmogenic right ventricular dysplasia 9 Brugada syndrome Arrhythmogenic right ventricular cardiomyopathy Dilated cardiomyopathy Arrhythmogenic right ventricular dysplasia 9 (609040) Tags
Green List (high evidence)	PLA2G6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Infantile neuroaxonal dystrophy 1 Tags
Green List (high evidence)	PLN	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH North West GLH Phenotypes Cardiomyopathy, dilated, 1P Cardiomyopathy, familial hypertrophic, 18, Cardiomyopathy, dilated, 1P (609909) Cardiomyopathy, hypertrophic, 18 (613874) Tags
Green List (high evidence)	PMM2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Phosphomannomutase 2 deficiency (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type Ia 212065 Tags
Green List (high evidence)	PMPCA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes slowly progressive cerebellar ataxia non-progressive cerebellar ataxia Tags
Green List (high evidence)	PNPO	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pyridoxamine 5 -oxidase deficiency (Disorders of pyridoxine metabolism) Tags
Green List (high evidence)	PNPT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Deafness, autosomal recessive 70, 614934 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Combined oxidative phosphorylation deficiency 13, 614932 respiratory chain disorder hearing loss Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green List (high evidence)	POLG	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Progressive external ophthalmoplegia, autosomal dominant, 157640 Progressive external ophthalmoplegia, autosomal recessive, 258450 Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions 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 List (high evidence)	POLG2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4,610131 Disorders of mitochondrial DNA maintenance and integrity Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions Tags
Green List (high evidence)	POMGNT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 613157 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280 Retinitis pigmentosa 76 617123 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 3 613157 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 613151 Protein-O-mannose beta-1,2-N-acetyglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Tags
Green List (high evidence)	POMGNT2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Walker-Warburg syndrome Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 Tags
Green List (high evidence)	POMK	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 Tags
Green List (high evidence)	POMT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Protein-O-mannosyltransferase 1 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670 Tags
Green List (high evidence)	POMT2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 613150 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158 Protein-O-mannosyltransferase 2 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156 Tags
Green List (high evidence)	PPA2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Unexpected cardiac arrest in infancy Sudden cardiac failure, infantile, 617222 Sudden cardiac failure, alcohol-induced, 617223 Tags
Green List (high evidence)	PPOX	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Porphyria variegata 176200 Variegate porphyria (Acute neuropathic porphyrias) Tags
Green List (high evidence)	PPP1CB	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Noonan syndrome-like disorder with loose anagen hair 2, 617506 Rasopathy with developmental delay, short stature and sparse slow-growing hair Tags
Green List (high evidence)	PPP1R13L	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes sudden cardiac death cardio-cutaneous syndrome Tags
Green List (high evidence)	PPT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 1 Tags
Green List (high evidence)	PRKAG2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH North West GLH Phenotypes Wolff-Parkinson-White syndrome (194200) syndromic HCM Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome Cardiomyopathy, familial hypertrophic 6, Cardiomyopathy, familial hypertrophic 6 (600858) Glycogen storage disease of heart, lethal congenital (261740) Tags
Green List (high evidence)	PRODH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperprolinemia, type I 239500 Hyperprolinaemia type I (Disorders of ornithine or proline metabolism) Tags
Green List (high evidence)	PSAP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Atypical Gaucher disease Metachromatic leukodystrophy due to SAP-b deficiency, 249900 Combined SAP deficiency Combined SAP deficiency, 611721 Prosaposin deficiency (Sphingolipidoses) Atypical Krabbe disease Krabbe disease, atypical, 611722 Gaucher disease, atypical, 610539 Tags
Green List (high evidence)	PTPN11	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH Phenotypes Noonan syndrome 1 LEOPARD syndrome 1 Noonan syndrome LEOPARD syndrome syndromic HCM Tags
Green List (high evidence)	PUS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Mitochondrial myopathy and sideroblastic anemia 1, 600462 Tags
Green List (high evidence)	PYCR1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cutis laxa, autosomal recessive, type IIIB, 614438 Cutis laxa, autosomal recessive, type IIb/IIIb (Disorders of ornithine or proline metabolism) Cutis laxa, autosomal recessive, type IIB, 612940 Tags
Green List (high evidence)	PYGL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glycogen Storage Disease Glycogen Storage Disorders- Liver Glycogen storage disease VI, 232700 hepatomegaly and mild hypoglycaemia Glycogen Storage Disease Type VI Glycogen storage disease type VI, Hers (Glycogen storage disorders) Tags
Green List (high evidence)	PYGM	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glycogen storage disease type V, McArdle (Glycogen storage disorders) McArdle disease 232600 Tags
Green List (high evidence)	QDPR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperphenylalaninemia, BH4-deficient, C Tags
Green List (high evidence)	RAB3GAP2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 614225 212720 Tags
Green List (high evidence)	RAF1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH Phenotypes LEOPARD syndrome 2 syndromic HCM LEOPARD syndrome Noonan syndrome Noonan syndrome 5 Tags
Green List (high evidence)	RARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pontocerebellar hypoplasia, type 6, 611523 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green List (high evidence)	RBCK1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency 615895 Tags
Green List (high evidence)	RBM20	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH North West GLH Phenotypes Cardiomyopathy, dilated, 1DD Cardiomyopathy, dilated, 1DD (613172) Tags
Green List (high evidence)	RFT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type In 612015 Flippase of Man5GlcNAc2-PP-Dol deficiency (Disorders of protein N-glycosylation) Tags
Green List (high evidence)	RIT1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Noonan syndrome 8 Noonan syndrome type 8 Tags
Green List (high evidence)	RMND1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Combined oxidative phosphorylation deficiency 11, 614922 Encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect Tags
Green List (high evidence)	RNASEH1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 Tags
Green List (high evidence)	ROBO3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 Tags
Green List (high evidence)	RPIA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ribose-5-phosphate isomerase deficiency (Disorders of pentose metabolism) ?Ribose 5-phosphate isomerase deficiency 608611 Tags
Green List (high evidence)	RPL10	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Mental retardation, X-linked, syndromic, 35 Tags
Green List (high evidence)	RRM2B	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 Mitochondrial DNA Depletion Syndrome (recessive) Mitochondrial Ribonucelotide Reductase subunit 2 deficiency (Disorders of purine metabolism) Progressive external ophthalmoplegia with mitochondrial DNA deletions (autosomal dominant) Disorders of mitochondrial DNA maintenance and integrity Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 Tags
Green List (high evidence)	RYR1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Minicore myopathy with external ophthalmoplegia Central core disease Neuromuscular disease, congenital, with uniform type 1 fiber congenital muscular dystrophies Rhabdomyolysis and metabolic muscle disorders Tags
Green List (high evidence)	RYR2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH North West GLH Phenotypes Arrhythmogenic right ventricular dysplasia 2 (600996) Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772) Arrhythmogenic right ventricular dysplasia 2, 600996 Arrhythmogenic right ventricular cardiomyopathy CPVT Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy catecholaminergic polymorphic ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 Long QT syndrome Tags
Green List (high evidence)	SACS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spastic ataxia, Charlevoix-Saguenay type Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) Tags
Green List (high evidence)	SAMHD1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes (Disorders of nucleotide metabolism, Aicardi-Goutieres Syndrome) AGS5 Aicardi-Goutieres syndrome-5 (AGS5) Aicardi-Goutieres syndrome 5, 612952 Tags
Green List (high evidence)	SAR1B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Anderson disease (Inherited hypolipidaemias) CHYLOMICRON RETENTION DISEASE 246700 Tags
Green List (high evidence)	SARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 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 List (high evidence)	SCN10A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green North West GLH Phenotypes J wave syndrome sudden death Episodic pain syndrome, familial, 2 (615551) short QT Tags
Green List (high evidence)	SCN1B	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH North West GLH Phenotypes Cardiac conduction defect, nonspecific (612838) Atrial fibrillation, familial, 13 (615377) Brugada syndrome 5 Epileptic encephalopathy, early infantile, 52 (617350) Brugada syndrome 5 (612838) Epilepsy, generalized, with febrile seizures plus, type 1 (604233) Cardiac conduction defect, nonspecific Nonspecific Cardiac Conduction Defect Tags
Green List (high evidence)	SCN3B	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH North West GLH Phenotypes Brugada syndrome 7 Tags
Green List (high evidence)	SCN5A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH North West GLH Phenotypes Arrhythmogenic right ventricular cardiomyopathy Ventricular fibrillation, familial, 1 (603829) Brugada syndrome 1 (601144) Dilated cardiomyopathy Brugada syndrome 1 601144 Heart block, nonprogressive (113900) Long QT syndrome Heart block, progressive, type IA (113900) {Sudden infant death syndrome, susceptibility to} (272120) Ventricular fibrillation, familial, 1, Brugada syndrome Paroxysmal Familial Ventricular Fibrillation Sick sinus syndrome 1 (608567) Long QT syndrome-3 (603830) Cardiomyopathy, dilated, 1E (601154) Brugada syndrome 1 Ventricular fibrillation, familial, 1, 603829 Long QT syndrome-3 Cardiomyopathy, dilated, 1E Atrial fibrillation, familial, 10 (614022) Tags
Green List (high evidence)	SCO1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial Diseases Mitochondrial Respiratory Chain Complex IV Deficiency Isolated complex IV deficiency Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Hepatic failure, early onset, and neurologic disorder Tags
Green List (high evidence)	SCO2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial Diseases syndromic HCM Isolated complex IV deficiency Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 Myopia 6, 608908 Mitochondrial Respiratory Chain Complex IV Deficiency Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Tags
Green List (high evidence)	SCP2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Sterol carrier protein deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation) Tags
Green List (high evidence)	SDHA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH Phenotypes Leigh syndrome, 256000 Paragangliomas 5, 614165 Cardiomyopathy, dilated, 1GG, 613642 Isolated complex II deficiency Mitochondrial respiratory chain complex II deficiency, 252011 Cardiomyopathy, dilated, 1GG Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Respiratory Chain Complex II Deficiency Tags
Green List (high evidence)	SDHAF1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial Diseases Mitochondrial complex II deficiency, 252011 Isolated complex II deficiency Mitochondrial Respiratory Chain Complex II Deficiency Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Tags
Green List (high evidence)	SDHB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial Diseases Gastrointestinal stromal tumor, 606764 Pheochromocytoma, 171300 Paragangliomas 4, 115310 Isolated complex II deficiency Cowden syndrome 2, 612359 Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Paraganglioma and gastric stromal sarcoma, 606864 Tags
Green List (high evidence)	SDHD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Diseases Isolated complex II deficiency Tags
Green List (high evidence)	SEC23B	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Dyserythropoietic anemia, congenital, type II 224100 COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies) Tags
Green List (high evidence)	SELENON	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Muscular dystrophy, rigid spine, 1, 602771 Tags
Green List (high evidence)	SERAC1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Methylglutaconic aciduria with deafness, encephalopathy and Leigh-like syndrome (MEGDEL) (Organic acidurias) 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 Tags
Green List (high evidence)	SGCD	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH North West GLH Phenotypes Cardiomyopathy, dilated, 1L Muscular dystrophy, limb-girdle, autosomal recessive 6 (601287) Cardiomyopathy, dilated, 1L (606685) Tags
Green List (high evidence)	SGSH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mucopolysaccharidosis Type III Mucopolysaccharidosis, Type III Mucopolysaccharidosis Type IIIA MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses) MUCOPOLYSACCHARIDOSIS TYPE 3A Tags
Green List (high evidence)	SHOC2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH Phenotypes syndromic HCM Noonan-like syndrome with loose anagen hair Tags
Green List (high evidence)	SI	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY 222900 Disaccharide intolerance 1 (Other carbohydrate disorders) Tags
Green 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 List (high evidence)	SLC17A5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Sialic acid storage disorder, infantile, 269920 Salla disease, 604369 Tags
Green List (high evidence)	SLC19A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Thiamine-responsive megaloblastic anemia syndrome, 249270 Thiamine-responsive megaloblastic anemia syndrome (Disorders of thiamine metabolism) Tags
Green List (high evidence)	SLC19A3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Biotin-responsive basal ganglia disease (Disorders of thiamine metabolism) Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2),607483 Tags
Green List (high evidence)	SLC22A5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes primary carnitine deficiency Carnitine deficiency, systemic primary 212140 cardiomyopathy arrhythmia Propionicacidemia Carnitine transporter deficiency (Disorders of carnitine transport and the carnitine cycle) short QT Tags
Green List (high evidence)	SLC25A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 Disorders of mitochondrial protein transport Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism) Tags
Green List (high evidence)	SLC25A13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Citrullinemia, adult-onset type II 603471 Citrullinemia, adult-onset type II, 603471 Citrullinemia, type II, neonatal-onset, 605814 Citrullinemia Type 2 (Urea cycle disorders and inherited hyperammonaemias) Tags
Green List (high evidence)	SLC25A15	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 HHH syndrome (Urea cycle disorders and inherited hyperammonaemias) Tags
Green List (high evidence)	SLC25A19	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Microcephaly, Amish type, 607196 Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 Microcephaly, Amish type (Disorders of thiamine metabolism) Tags
Green List (high evidence)	SLC25A20	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Carnitine-acylcarnitine translocase deficiency 212138 Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle) Tags
Green List (high evidence)	SLC25A22	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 3, 609304 Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green List (high evidence)	SLC25A26	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 28 intra-mitochondrial methylation deficiency. Intra-mitochondrial Methylation Deficiency leading to Clinical findings ranging from neonatal mortality resulting from respiratory insufficiency and hydrops to childhood acute episodes of cardiopulmonary failure and slowly progressive muscle weakness Tags
Green List (high evidence)	SLC25A3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial phosphate carrier deficiency, 610773 Mitochondrial phosphate carrier deficiency 610773 Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism) Tags
Green List (high evidence)	SLC25A38	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes severe, non-syndromic, microcytic/hypochromic sideroblastic anemia nonsyndromic autosomal recessive congenital sideroblastic anemia Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) congenital sideroblastic anemias Tags
Green List (high evidence)	SLC25A4	3 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH North West GLH Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283 Disorders of mitochondrial protein transport Hypertrophic cardiomyopathy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 (609283) Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR (615418) Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418 Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD (617184) Disorders of mitochondrial DNA maintenance and integrity Tags
Green List (high evidence)	SLC25A46	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes optic atrophy spectrum disorder Tags
Green List (high evidence)	SLC2A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glycogen storage disease type XI (Glycogen storage disorders) Glycogen Storage Disorders- Liver Glucose transporter 2 deficiency (Disorders of glucose transport) Fanconi-Bickel Syndrome renal falcon syndrome, aminoaciduria phosphaturia, small stature, malabsorption, hepatomegaly and nephromegaly. Tags
Green List (high evidence)	SLC30A10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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 List (high evidence)	SLC35A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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 List (high evidence)	SLC35C1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) Congenital disorder of glycosylation, type IIc 266265 Tags
Green List (high evidence)	SLC35D1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 9.2.3. O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation) Tags
Green List (high evidence)	SLC37A4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glycogen storage disease Ic, 232240 Glycogen storage disease Ib, 232220 Glycogen Storage Disease Type I Glycogen Storage Disease Glycogen Storage Disorders- Liver Glycogen Storage Disease Ib and Ic Glycogen storage disease type 1b, von Gierke (Glycogen storage disorders) heptomgaly, feed intolerance , inflammatory bowel disease, neutropenia Tags
Green List (high evidence)	SLC39A14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypermanganesemia with dystonia 2 Tags
Green List (high evidence)	SLC39A4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Acrodermatitis enteropathica (Disorder of zinc metabolism) Acrodermatitis enteropathica 201100 (Disorder of zinc metabolism) Tags
Green List (high evidence)	SLC39A8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIn 616721 Hypomagnesaemia with cerebellar atrophy, hypotonia, strabismus, developmental delay, short stature, mild skeletal dysplasia, and connective tissue abnormalities (Disorder of magnesium metabolism) Tags
Green List (high evidence)	SLC40A1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Hemochromatosis, type 4 606069 Hemochromatosis, type 4 606069 (Disorder of iron metabolism) Hereditary haemochromatosis Type 4 (Disorder of iron metabolism) Tags
Green List (high evidence)	SLC46A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Folate malabsorption, hereditary Hereditary folate malabsorption (Disorders of folate metabolism and transport) Tags
Green List (high evidence)	SLC4A3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes cardiac arrest ventricular fibrillation short QT Tags
Green List (high evidence)	SLC52A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Brown-Vialetto-Van Laere syndrome 2 614707 Tags
Green List (high evidence)	SLC52A3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Brown-Vialetto-Van Laere syndrome 1 211530 Fazio-Londe disease 211500 Tags
Green List (high evidence)	SLC5A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glucose/galactose malabsorption (Disorders of glucose transport) Glucose/galactose malabsorption 606824 (Disorders of glucose transport) Tags
Green List (high evidence)	SLC6A19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Iminoglycinuria, digenic Hartnup disorder AD Tags
Green List (high evidence)	SLC7A7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lysinuric protein intolerance (Disorders of amino acid transport) Lysinuric protein intolerance 222700 Tags
Green List (high evidence)	SMPD1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Niemann-Pick disease, type A, 257200 Niemann-Pick disease, type B, 607616 Tags
Green List (high evidence)	SNTA1	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH North West GLH Phenotypes Long QT syndrome 12 612955 Long QT syndrome 12 (612955) Tags
Green List (high evidence)	SOS1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH Phenotypes syndromic HCM Noonan syndrome Noonan syndrome 4 Tags
Green List (high evidence)	SOS2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Noonan syndrome 9 Tags
Green List (high evidence)	SPG7	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Spastic paraplegia 7, autosomal recessive, 607259 Disorders of mitochondrial DNA maintenance and integrity Tags
Green List (high evidence)	SPRED1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Legius Syndrome Neurofibromatosis-like syndrome Tags
Green List (high evidence)	SRD5A3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes SRD5A3-CDG (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type Iq 612379 Tags
Green List (high evidence)	SSR4	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type Iy 300934 Tags
Green List (high evidence)	ST3GAL5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Salt and pepper developmental regression syndrome 609056 GM3 synthase deficiency (Disorders of complex lipid synthesis) Tags
Green List (high evidence)	SUCLA2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonicaciduria), 612073 Mitochondrial DNA Depletion Syndrome Disorders of mitochondrial DNA maintenance and integrity Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green List (high evidence)	SUCLG1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria),245400 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 List (high evidence)	SUMF1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple sulfatase deficiency Tags
Green List (high evidence)	SUOX	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Sulfite oxidase deficiency Tags
Green List (high evidence)	SURF1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial Diseases Complex IV deficiency Leigh Syndrome Isolated complex IV deficiency Leigh syndrome, due to COX deficiency, 256000 Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Tags
Green List (high evidence)	SYNE1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes complex phenotypic spectrum ranging from Emery-Dreifuss muscular dystrophy to ataxia (SCA8) Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998 Tags
Green List (high evidence)	TACO1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial Diseases Multiple respiratory chain complex deficiencies (disorders of protein synthesis) ?Mitochondrial complex IV deficiency, 220110 Isolated complex IV deficiency Mitochondrial Respiratory Chain Complex IV Deficiency Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Tags
Green List (high evidence)	TALDO1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Transaldolase deficiency Tags
Green List (high evidence)	TANGO2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 Tags
Green List (high evidence)	TAZ	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 South GLH Phenotypes Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Barth syndrome, 302060 Dilated Cardiomyopathy, X-Linked Left Ventricular Noncompaction Cardiomyopathy Disorders of mitochondrial lipid metabolism Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias) Tags
Green List (high evidence)	TCAP	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH North West GLH Phenotypes Congenital muscular dystrophies Cardiomyopathy, hypertrophic, 25 (607487) Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954) Cardiomyopathy, dilated, 1N Tags
Green List (high evidence)	TFR2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hemochromatosis, type 3 604250 Hereditary haemochromatosis Type 3 (Disorder of iron metabolism) Tags
Green List (high evidence)	TIMM8A	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Mohr-Tranebjaerg syndrome, 304700 Jensen syndrome, 311150 Disorders of the mitochondrial import system Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Deafness, X-linked 1, progressive Tags
Green List (high evidence)	TK2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 Mitochondrial DNA Depletion Syndrome Disorders of mitochondrial DNA maintenance and integrity Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Thymidine kinase 2 deficiency (Disorders of pyrimidine metabolism) Tags
Green List (high evidence)	TMEM165	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIk 614727 CDG2K (other congenital disorders of glycosylation) Tags
Green List (high evidence)	TMEM43	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH North West GLH Phenotypes Arrhythmogenic right ventricular dysplasia 5 (604400) Emery-Dreifuss muscular dystrophy 7, AD 614302 Emery-Dreifuss muscular dystrophy 7, AD (614302) Arrhythmogenic right ventricular dysplasia 5 Tags
Green List (high evidence)	TMEM5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 Tags new-gene-name
Green List (high evidence)	TMEM70	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial Diseases syndromic HCM Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 Isolated complex V deficiency Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type Tags
Green List (high evidence)	TNNC1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH North West GLH Phenotypes Cardiomyopathy, dilated, 1Z Cardiomyopathy, dilated, 1Z (611879) Cardiomyopathy, familial hypertrophic, 13, Cardiomyopathy, hypertrophic, 13 (613243) Tags
Green List (high evidence)	TNNI3	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH North West GLH Phenotypes Hypertrophic cardiomyopathy Cardiomyopathy, dilated, 1FF (613286) Cardiomyopathy, dilated, 2A, Cardiomyopathy, familial hypertrophic, 7 Cardiomyopathy, hypertrophic, 7 (613690) ?Cardiomyopathy, dilated, 2A (611880) Cardiomyopathy, familial restrictive, 1 (115210) Cardiomyopathy, dilated, 1FF Tags
Green List (high evidence)	TNNI3K	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Cardiac conduction disease with or without dilated cardiomyopathy 616117 Tags
Green List (high evidence)	TNNT2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH North West GLH Phenotypes Cardiomyopathy, dilated, 1D (601494) Cardiomyopathy, familial hypertrophic, 2 Hypertrophic cardiomyopathy Cardiomyopathy, familial restrictive, 3 (612422) Cardiomyopathy, hypertrophic, 2 (115195) Left ventricular noncompaction 6 (601494) Cardiomyopathy, dilated, 1D Left ventricular noncompaction 6, Tags
Green List (high evidence)	TPK1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 Tags
Green List (high evidence)	TPM1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH North West GLH Phenotypes Left ventricular noncompaction 9, Left ventricular noncompaction 9 ( 611878) Cardiomyopathy, hypertrophic, 3 (115196) Cardiomyopathy, familial hypertrophic, 3 Cardiomyopathy, dilated, 1Y Cardiomyopathy, dilated, 1Y (611878) Tags
Green List (high evidence)	TPP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Intellectual disability CLN2, Jansky-Bielschowsky disease (Ceroid lipfuscinoses, neuronal) Ceroid lipofuscinosis, neuronal, 2 Hereditary ataxia Tags
Green List (high evidence)	TRDN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH North West GLH Phenotypes catecholaminergic polymorphic ventricular tachycardia Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness (615441) Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness Tags
Green List (high evidence)	TRIM37	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mulibrey nanism (Other peroxisomal disorders) Mulibrey nanism Tags
Green List (high evidence)	TRMU	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes {Deafness, mitochondrial, modifier of}, 580000 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Liver failure, transient infantile, 613070 Tags
Green List (high evidence)	TRNT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes congenital sideroblastic anemia with B cell immunodeficiency, fevers, and developmental delay (SIFD) retinitis pigmentosa with erythrocytic microcytosis Tags
Green List (high evidence)	TRPM4	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green North West GLH Phenotypes Progressive familial heart block, type IB 604559 Progressive familial heart block, type IB (604559) Tags
Green List (high evidence)	TRPM6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypomagnesemia 1, intestinal 602014 Hypomagnesaemia type 1, intestinal (Disorder of magnesium metabolism) Tags
Green List (high evidence)	TSFM	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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 List (high evidence)	TTC19	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial Diseases Isolated complex III deficiency Mitochondrial Respiratory Chain Complex III Deficiency Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Mitochondrial complex III deficiency, nuclear type 2, 615157 Tags
Green List (high evidence)	TTN	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH North West GLH Phenotypes Cardiomyopathy, dilated, 1G Tibial muscular dystrophy, tardive (600334) Myopathy, proximal, with early respiratory muscle involvement (603689) Muscular dystrophy, limb-girdle, autosomal recessive 10 (608807) Cardiomyopathy, familial hypertrophic, 9 (613765) Salih myopathy (611705) Cardiomyopathy, familial hypertrophic, 9, Cardiomyopathy, dilated, 1G (604145) Tags
Green List (high evidence)	TUSC3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes TUSC3-CDG (Disorders of protein N-glycosylation) Mental retardation, autosomal recessive 7 Tags
Green List (high evidence)	TWNK	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial Membrane Protein-Associated Neurodegeneration (biallelic) Disorders of mitochondrial DNA maintenance and integrity Mitochondrial DNA Depletion Syndrome (biallelic) Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Progressive external ophthalmoplegia, autosomal dominant, 3, 609286 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 Mitochondrial DNA Depletion Syndrome Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions (monoallelic) Tags
Green List (high evidence)	TYMP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Thymidine phosphorylase deficiency (Disorders of pyrimidine metabolism) Mitochondrial Neurogastrointestinal Encephalopathy Disease Disorders of mitochondrial DNA maintenance and integrity Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 Tags
Green List (high evidence)	UGT1A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Crigler-Najjar syndrome, type I 218800 Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport) Crigler-Najjar syndrome, type II 606785 Tags
Green List (high evidence)	UMPS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Intellectual disability Orotic aciduria Orotic aciduria (Disorders of pyrimidine metabolism) Tags
Green List (high evidence)	UROD	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Porphyria cutanea tarda (Porphyrias with erosive photodermatosis) Tags
Green List (high evidence)	UROS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis) Porphyria, congenital erythropoietic 263700 Tags
Green List (high evidence)	VARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Combined oxidative phosphorylation deficiency 20, 615917 Tags
Green List (high evidence)	VCL	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH North West GLH Phenotypes Cardiomyopathy, familial hypertrophic, 15, Cardiomyopathy, dilated, 1W (611407) Cardiomyopathy, hypertrophic, 15 (613255) Cardiomyopathy, dilated, 1W Tags
Green List (high evidence)	WDR45	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes Neurodegeneration with brain iron accumulation 5 Tags
Green List (high evidence)	XDH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Xanthinuria type II (Disorders of purine metabolism) Xanthinuria type I (Disorders of purine metabolism) Tags
Green List (high evidence)	XYLT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Desbuquois dysplasia 2 Tags
Green List (high evidence)	XYLT2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spondyloocular syndrome Tags
Green List (high evidence)	YARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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 List (moderate evidence)	ABCG5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Sitosterolaemia (Inherited hypercholesterolaemias) Familial hypercholesterolaemia Tags
Amber List (moderate evidence)	ABCG8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Sitosterolaemia (Inherited hypercholesterolaemias) Familial hypercholesterolaemia Tags
Amber List (moderate evidence)	ABHD12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Congenital hearing impairment (profound/severe) PHARC syndrome (Disorders of complex lipid synthesis) Posterior segment abnormalities Hereditary ataxia Tags
Amber List (moderate evidence)	ACTA1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London South GLH Phenotypes Nemaline myopathy 3, autosomal dominant or recessive 161800 CMD with rigid spine Hypertrophic cardiomyopathy Myopathy, congenital, with fiber-type disproportion 1 255310 Dilated cardiomyopathy Tags
Amber List (moderate evidence)	ACY1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Intellectual disability Aminoacylase 1 deficiency (Organic acidurias) Tags
Amber List (moderate evidence)	ADA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Combined B and T cell defect Adenosine deaminase deficiency (Disorders of purine metabolism) SCID Infantile enterocolitis & monogenic inflammatory bowel disease Tags
Amber List (moderate evidence)	ADSL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Intellectual disability Epileptic encephalopathy Adenylosuccinate lyase deficiency (Disorders of purine metabolism) Tags
Amber List (moderate evidence)	ALAS2	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Phenotypes Erythropoietic protoporphyria, mild variant X-linked sideroblastic anaemia (XLSA) (Porphyrias with acute painful photosensitivity) X-linked dominant protoporphyria (Porphyrias with acute painful photosensitivity) Tags
Amber List (moderate evidence)	ALDH3A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Intellectual disability Sj gren - Larsson syndrome (Other disorders of lipid and lipoprotein metabolism) Inherited white matter disorders Tags
Amber List (moderate evidence)	ALG13	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Phenotypes Intellectual disability Epileptic encephalopathy ALG13-CDG (Disorders of protein N-glycosylation) Epileptic encephalopathy, early infantile, 36 300884 Tags
Amber List (moderate evidence)	ALPL	0 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Unexplained skeletal dysplasia Osteogenesis Imperfecta Craniosynostosis syndromes phenotypes Hypophosphatasia (Disorders of pyridoxine metabolism) Tags
Amber List (moderate evidence)	ANKRD1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber London South GLH Phenotypes Dilated Cardiomyopathy, Dominant Tags
Amber List (moderate evidence)	APOB	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes Familial hypobetalipoproteinaemia (Inherited hypolipidaemias) Familial hypercholesterolaemia Tags
Amber List (moderate evidence)	ASAH1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Farber disease (Sphingolipidoses) Intellectual disability Fetal hydrops Tags
Amber List (moderate evidence)	CACNA2D1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber London South GLH North West GLH Phenotypes cardiac arrhythmia Brugada/Brugada like syndrome short qt Sudden death Brugada syndrome Short QT syndrome 6 aborted sudden death Tags
Amber List (moderate evidence)	CISD2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Diabetes with additional phenotypes suggestive of a monogenic aetiology Wolfram syndrome 2 (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Intellectual disability Tags
Amber List (moderate evidence)	CLDN16	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Renal tract calcification (or Nephrolithiasis/nephrocalcinosis) Hypomagnesaemia type 3, renal (Disorder of magnesium metabolism) Tags
Amber List (moderate evidence)	CLDN19	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Hypomagnesaemia type 5, renal with ocular involvement (Disorder of magnesium metabolism) Renal tract calcification (or Nephrolithiasis/nephrocalcinosis) Tags
Amber List (moderate evidence)	COA3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Ostergaard et al., 2015, J. Med. Genet., 52, 203-207. Tags
Amber List (moderate evidence)	COA6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes ?{Fatal infantile cardiomyopathy, association with}, 604377 Tags
Amber List (moderate evidence)	COL4A1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes walker warburg syndrome, muscle eye brain disease Tags
Amber List (moderate evidence)	CRYAB	1 review	Unknown	Sources Expert Review Amber London South GLH Phenotypes Cardiomyopathy, dilated, 1II, Myopathy, myofibrillar, fatal infantile hypertrophy, alpha B crystallin related, 613869 Tags
Amber List (moderate evidence)	CSTB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Intellectual disability Myoclonic epilepsy of Unverricht and Lundborg (Other metabolic disorders) Tags
Amber List (moderate evidence)	CTSC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Papillon-Lef vre syndrome (Other lysosomal disorders, Cathepsin-related disorders) Unexplained skeletal dysplasia Tags
Amber List (moderate evidence)	CYCS	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes Thrombocytopenia 4, 612004 Tags
Amber List (moderate evidence)	CYP7B1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Bile acid synthesis defect, congenital, 3 Tags
Amber List (moderate evidence)	DCC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Gaze palsy, familial horizontal, with progressive scoliosis, 2 Tags
Amber List (moderate evidence)	DCXR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes [Pentosuria] 260800 Essential pentosuria (Disorders of pentose metabolism) Tags
Amber List (moderate evidence)	DHCR24	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Desmosterolosis (Disorders of sterol biosynthesis) Unexplained skeletal dysplasia Intellectual disability Tags
Amber List (moderate evidence)	DHCR7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Intellectual disability IUGR and IGF abnormalities Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis) Disorders of sex development Cataracts Tags
Amber List (moderate evidence)	DHDDS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Retinitis pigmentosa 59 613861 Posterior segment abnormalities Retinitis pigmentosa (other congenital disorders of glycosylation) Tags
Amber List (moderate evidence)	DHODH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Bilateral microtia Unexplained skeletal dysplasia Dihydroorotate dehydrogenase deficiency (Disorders of pyrimidine metabolism) Deafness and congenital structural abnormalities Tags
Amber List (moderate evidence)	DPM3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Congenital disorder of glycosylation, type Io 612937 Congenital disorder of glycosylation, type Io 612937 DMP3-CDG (other congenital disorders of glycosylation) congenital muscular dystrophies Congenital disorder of glycosylation, type Io Tags
Amber List (moderate evidence)	DYSF	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Myopathy, distal, with anterior tibial onset, 606768 Muscular dystrophy, limb-girdle, type 2B, 253601 Miyoshi muscular dystrophy 1, 254130 Tags
Amber List (moderate evidence)	FECH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Erythropoietic protoporphyria, mild variant Erythropoietic protoporphyria (Porphyrias with acute painful photosensitivity) Tags
Amber List (moderate evidence)	FGFR2	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Bilateral microtia Deafness and congenital structural abnormalities Craniosynostosis syndromes phenotypes Arthrogryposis Choanal atresia Antley-Bixler syndrome type without disordered steroidogenesis Unexplained skeletal dysplasia Tags
Amber List (moderate evidence)	FLNC	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Tags
Amber List (moderate evidence)	FTCD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Glutamate formiminotransferase deficiency Tags
Amber List (moderate evidence)	FXN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London South GLH Phenotypes Hereditary ataxia syndromic HCM Friedreich ataxia, 229300 Friedreich ataxia with retained reflexes, 229300 Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Amber List (moderate evidence)	GAMT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Intellectual disability Guanidinoacetate methyltransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism) Tags
Amber List (moderate evidence)	GATAD1	1 review	Unknown	Sources Expert Review Amber London South GLH Phenotypes Cardiomyopathy, dilated, 2B Tags
Amber List (moderate evidence)	GK	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Phenotypes Glycerol kinase deficiency (Disorders of glycerol metabolism) Intellectual disability Intellectual_disability Tags
Amber List (moderate evidence)	GLUL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Intellectual disability Glutamine deficiency, congenital (Other disorder of amino acid metabolism) Tags
Amber List (moderate evidence)	GNMT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Glycine N-methyltransferase deficiency Tags
Amber List (moderate evidence)	HADH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Intellectual disability Hyperinsulinism 3-alpha-hydroxyacyl- CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation) Tags
Amber List (moderate evidence)	HPD	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Intellectual disability 4-hydroxyphenylpyruvate dioxygenase deficiency (Disorders of phenylalanine or tyrosine metabolism) Tags
Amber List (moderate evidence)	HPS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Infantile enterocolitis & monogenic inflammatory bowel disease Hermansky-Pudlak Syndrome (Other lysosomal disorders) Inherited bleeding disorders Tags
Amber List (moderate evidence)	HSD17B10	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Phenotypes Intellectual disability 2-Methyl-3-hydroxybutyric aciduria, HSD10 disease (Organic acidurias) Intellectual_disability Tags
Amber List (moderate evidence)	ISCU	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Myopathy with lactic acidosis, hereditary, 255125 Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Rhabdomyolysis and metabolic muscle disorders Disorders of iron homeostasis Tags non-coding-known-pathogenic
Amber List (moderate evidence)	JPH2	1 review	Unknown	Sources Expert Review Amber London South GLH Phenotypes Cardiomyopathy, familial hypertrophic 17, Tags
Amber List (moderate evidence)	KCNJ8	1 review	Unknown	Sources Expert Review Amber London South GLH Phenotypes ventricular tachycardia Brugada/Brugada like syndrome Sudden infant death syndrome ?Ventricular fibrillation arrhythmia short qt atrial fibrillation Tags
Amber List (moderate evidence)	LBR	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Greenberg skeletal dysplasia (Disorders of sterol biosynthesis) Unexplained skeletal dysplasia Fetal hydrops Tags
Amber List (moderate evidence)	LDLR	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes Familial hypercholesterolaemia Disorder of low density lipoprotein receptor (Inherited hypercholesterolaemias) Tags
Amber List (moderate evidence)	LDLRAP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Familial hypercholesterolaemia Autosomal recessive hypercholesterolemia (Inherited hypercholesterolaemias) Tags
Amber List (moderate evidence)	LIPC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes {Diabetes mellitus, noninsulin-dependent} 125853 Hepatic lipase deficiency (Inherited mixed hyperlipidaemias) Hepatic lipase deficiency, 614025 [High density lipoprotein cholesterol level QTL 12] 612797 Tags
Amber List (moderate evidence)	MAGT1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes Combined B and T cell defect Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853 IAP-CDG (Disorders of protein N-glycosylation) Tags
Amber List (moderate evidence)	MANBA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Mannosidosis, beta Tags
Amber List (moderate evidence)	MAOA	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes sudden infant death syndrome Brunner syndrome Tags
Amber List (moderate evidence)	MOCS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Intellectual disability Mo cofactor deficiency, complementation group A (Disorders of molybdenum cofactor metabolism) Tags
Amber List (moderate evidence)	MOCS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Intellectual disability Mo cofactor deficiency, complementation group B (Disorders of molybdenum cofactor metabolism) Tags
Amber List (moderate evidence)	MRPL3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes syndromic HCM Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Combined oxidative phosphorylation deficiency 9, 614582 Tags
Amber List (moderate evidence)	MT-RNR2	0 reviews	MITOCHONDRIAL	Sources Expert Review Amber Tags
Amber List (moderate evidence)	MT-TT	0 reviews	MITOCHONDRIAL	Sources Expert Review Amber Tags
Amber List (moderate evidence)	MTFMT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Combined oxidative phosphorylation deficiency 15, 614947 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Inherited white matter disorders Tags
Amber List (moderate evidence)	MTPAP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes ?Spastic ataxia 4, autosomal recessive, 613672 Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only) Ataxia, spastic, 4, 613672 Tags
Amber List (moderate evidence)	MVK	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Infantile enterocolitis & monogenic inflammatory bowel disease Mevalonate kinase deficiency (Disorders of sterol biosynthesis) Tags
Amber List (moderate evidence)	MYLK2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber London South GLH North West GLH Phenotypes Cardiomyopathy, hypertrophic, 1, digenic (192600) Cardiomyopathy, hypertrophic, midventricular, digenic, Tags
Amber List (moderate evidence)	MYPN	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber London South GLH Phenotypes Cardiomyopathy, dilated, 1KK Cardiomypathy, familial hypertrophic, 22, Tags
Amber List (moderate evidence)	NDUFA4	0 reviews	Unknown	Sources Expert Review Amber Phenotypes Isolated complex IV deficiency No OMIM phenotype Tags
Amber List (moderate evidence)	NDUFB9	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes ?Mitochondrial complex I deficiency ?Mitochondrial complex I deficiency, 252010 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Isolated complex I deficiency Tags
Amber List (moderate evidence)	OCRL	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes Lowe syndrome (Disorders of amino acid transport) Renal tract calcification (or Nephrolithiasis/nephrocalcinosis) Intellectual_disability Cataracts Intellectual disability Tags
Amber List (moderate evidence)	OPLAH	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Oxoprolinuria (Disorders of the gamma-glutamyl cycle) 5-oxoprolinase deficiency, 260005 Tags
Amber List (moderate evidence)	PANK2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Neurodegeneration with brain iron accumulation 1, 234200HARP syndrome, 607236 Early onset dystonia Posterior segment abnormalities Parkinson Disease and Complex Parkinsonism Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism) Pantothenate kinases deficiency (Other disorders of vitamins and cofactors) Tags
Amber List (moderate evidence)	PARS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Epileptic encephalopathy, early infantile, 75, 618437 Alpers syndrome. Tags
Amber List (moderate evidence)	PCK1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Phosphoenolpyruvate carboxykinase deficiency (Disorders of gluconeogenesis) ?Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency (PCK1 DEFICIENCY, Cytosolic phosphoenolpyruvate carboxykinase (PEPCK)) Tags
Amber List (moderate evidence)	PCSK9	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes Familial hypercholesterolaemia Autosomal dominant hypercholesterolemia-3 (Inherited hypercholesterolaemias) Tags
Amber List (moderate evidence)	PDPR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) Tags
Amber List (moderate evidence)	PEPD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Intellectual disability Prolidase deficiency (Other disorders of peptide metabolism) Tags
Amber List (moderate evidence)	PGAM2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Glycogen storage disease type X (Glycogen storage disorders) Rhabdomyolysis and metabolic muscle disorders Tags
Amber List (moderate evidence)	PHGDH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Phosphoglycerate dehydrogenase deficiency (Disorders of serine, glycine or glycerate metabolism) Unexplained skeletal dysplasia Intellectual disability Tags
Amber List (moderate evidence)	PIGM	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation Phosphatidylinositolglycan, class M deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Glycosylphosphatidylinositol deficiency, 610293 Glycosylphosphatidylinositol deficiency 610293 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Tags
Amber List (moderate evidence)	PINK1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Early onset dystonia Parkinson disease 6, early onset (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Parkinson Disease and Complex Parkinsonism Tags
Amber List (moderate evidence)	PNP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes SCID Purine nucleoside phosphorylase deficiency (Disorders of purine metabolism) Tags
Amber List (moderate evidence)	POR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Antley-Bixler syndrome with disordered steroidogenesis Unexplained skeletal dysplasia Disorders of sex development Craniosynostosis syndromes phenotypes Tags
Amber List (moderate evidence)	PRPS1	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Phenotypes Intellectual disability Charcot-Marie-Tooth disease Phosphoribosyl pyrophosphate synthetase 1 defects (Disorders of purine metabolism) Congenital hearing impairment (profound/severe) Intellectual_disability Tags
Amber List (moderate evidence)	PSAT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Phosphoserine aminotransferase deficiency (Disorders of serine, glycine or glycerate metabolism) Unexplained skeletal dysplasia Tags
Amber List (moderate evidence)	PSEN1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Cardiomyopathy, dilated, 1U Tags
Amber List (moderate evidence)	PSEN2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Cardiomyopathy, dilated, 1V Tags
Amber List (moderate evidence)	PSPH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Intellectual disability Phosphoserine phosphatase deficiency (Disorders of serine, glycine or glycerate metabolism) Unexplained skeletal dysplasia Tags
Amber List (moderate evidence)	PTS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Intellectual disability 6-Pyruvoyl-tetrahydropterin synthase deficiency (Disorders of pterin metabolism) Tags
Amber List (moderate evidence)	QARS	1 review	Unknown	Sources Expert Review Amber Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags new-gene-name
Amber List (moderate evidence)	RANBP2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Acute necrotizing encephalopathy (Other metabolic disorders) Tags
Amber List (moderate evidence)	RBP4	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Retinol binding protein deficiency (Other disorders of vitamins and cofactors) Posterior segment abnormalities Tags
Amber List (moderate evidence)	RNASEH2A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Intellectual disability Intracerebral calcification disorders (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS4 Inherited white matter disorders Tags
Amber List (moderate evidence)	RNASEH2B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Intellectual disability (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS2 Intracerebral calcification disorders Inherited white matter disorders Tags
Amber List (moderate evidence)	RNASEH2C	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Intellectual disability (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS3 Intracerebral calcification disorders Inherited white matter disorders Tags
Amber List (moderate evidence)	RNASET2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Intellectual disability RNASET2-deficient cystic leukoencephalopathy (Disorders of nucleotide metabolism) Inherited white matter disorders Tags
Amber List (moderate evidence)	SC5D	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Lathosterolosis (Disorders of sterol biosynthesis) Intellectual disability Cataracts Tags
Amber List (moderate evidence)	SDHAF2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Mitochondrial Diseases Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Isolated complex II deficiency Neuro-endocrine Tumours- PCC and PGL Multiple endocrine tumours Multiple Tumours Tags
Amber List (moderate evidence)	SDHC	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes Mitochondrial Diseases Isolated complex II deficiency Neuro-endocrine Tumours- PCC and PGL Multiple endocrine tumours Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Multiple Tumours Tags
Amber List (moderate evidence)	SETX	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Charcot-Marie-Tooth disease Hereditary ataxia Amyotrophic lateral sclerosis/motor neuron disease Tags
Amber List (moderate evidence)	SKIV2L	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Infantile enterocolitis & monogenic inflammatory bowel disease Trichohepatoenteric syndrome 2 (Other metabolic disorders) Tags
Amber List (moderate evidence)	SLC12A3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Gitelman syndrome (Disorder of magnesium metabolism) Renal tubular acidosis Tags
Amber List (moderate evidence)	SLC18A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism) Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism) (NO phenotype number in OMIM) Tags
Amber List (moderate evidence)	SLC25A12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Hypomyelination, global cerebral, 612949 Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Inherited white matter disorders Tags
Amber List (moderate evidence)	SLC2A1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber 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 Tags
Amber List (moderate evidence)	SLC35A2	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Phenotypes Intellectual disability Congenital disorder of glycosylation, type IIm 300896 SLC35A2-CDG (other congenital disorders of glycosylation) Tags
Amber List (moderate evidence)	SLC3A1	0 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Cystinuria (Disorders of amino acid transport) Renal tract calcification (or Nephrolithiasis/nephrocalcinosis) Hypotonia-cystinuria syndrome (Disorders of amino acid transport) Tags
Amber List (moderate evidence)	SLC6A3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Intellectual disability Early onset dystonia Dopamine transporter deficiency syndrome (Other disorders of neurotransmitter metabolism) Parkinson Disease and Complex Parkinsonism Tags
Amber List (moderate evidence)	SLC6A8	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes Intellectual disability Creatine transporter deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism) Tags
Amber List (moderate evidence)	SLC7A9	0 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Renal tract calcification (or Nephrolithiasis/nephrocalcinosis) Cystinuria (Disorders of amino acid transport) Tags
Amber List (moderate evidence)	SPR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Intellectual disability Early onset dystonia Sepiapterin reductase deficiency (Disorders of pterin metabolism) Parkinson Disease and Complex Parkinsonism Tags
Amber List (moderate evidence)	SPTLC1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Charcot-Marie-Tooth disease Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis) Familial dysautonomia Tags
Amber List (moderate evidence)	SPTLC2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes Charcot-Marie-Tooth disease Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis) Familial dysautonomia Tags
Amber List (moderate evidence)	ST3GAL3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Intellectual disability Epileptic encephalopathy, early infantile, 15 615006 ST3GAL3-CDG (Disorders of protein N-glycosylation) Tags
Amber List (moderate evidence)	STS	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Phenotypes X-linked ichthyosis (Other disorders in the metabolism of sterols) Autosomal recessive congenital ichthyosis Tags
Amber List (moderate evidence)	STT3A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes ?Congenital disorder of glycosylation, type Iw 615596 Tags
Amber List (moderate evidence)	TARS2	0 reviews	Unknown	Sources Expert Review Amber Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) ?Combined oxidative phosphorylation deficiency 21, 615918 Tags
Amber List (moderate evidence)	TAT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Intellectual disability Tyrosinaemia type II (Disorders of phenylalanine or tyrosine metabolism) Tags
Amber List (moderate evidence)	TCN2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Congenital neutropaenia Intellectual disability A- or hypo-gammaglobulinaemia Agranulocytosis Combined B and T cell defect SCID Transcobalamin II deficiency (Disorders of cobalamin absorption, transport and metabolism) Tags
Amber List (moderate evidence)	TH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Intellectual disability Early onset dystonia Tyrosine hydroxylase deficiency (Disorders of neurotransmitter metabolism, biogenic amines) Parkinson Disease and Complex Parkinsonism Tags
Amber List (moderate evidence)	TIMM50	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes 3-methylglutaconic aciduria, type IX 617698 Tags
Amber List (moderate evidence)	TMEM126B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Isolated complex I deficiency Tags
Amber List (moderate evidence)	TREX1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Intellectual disability Familial cerebral small vessel disease Intracerebral calcification disorders (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS1 Inherited white matter disorders Tags
Amber List (moderate evidence)	TTC37	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Infantile enterocolitis & monogenic inflammatory bowel disease Trichohepatoenteric syndrome 1 (Other metabolic disorders) Tags
Amber List (moderate evidence)	TTPA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes TTP1 deficiency (Other disorders of vitamins and cofactors) Hereditary ataxia Tags
Amber List (moderate evidence)	TTR	2 reviews	Unknown	Sources Expert Review Amber London South GLH Phenotypes syndromic HCM Tags treatable
Amber List (moderate evidence)	TUFM	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Combined oxidative phosphorylation deficiency 4, 610678 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Combined oxidative phosphorylation deficiency 4 610678 Tags
Amber List (moderate evidence)	UMOD	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes Cystic kidney disease Unexplained kidney failure in young people Familial juvenile hyperuricaemic nephropathy (Disorders of purine metabolism) Tags
Amber List (moderate evidence)	UQCRB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Mitochondrial complex III deficiency, nuclear type 3 615158 Mitochondrial Diseases Isolated complex III deficiency Mitochondrial complex III deficiency, nuclear type 3, 615158 Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Tags
Amber List (moderate evidence)	UQCRQ	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Mitochondrial complex III deficiency, nuclear type 4, 615159 Tags
Amber List (moderate evidence)	UROC1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Intellectual disability Urocanase deficiency (Disorders of histidine, tryptophan or lysine metabolism) Tags
Amber List (moderate evidence)	VIPAS39	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Inherited bleeding disorders ARC Syndrome (Other metabolic disorders) Arthrogryposis Tags
Amber List (moderate evidence)	VKORC1	0 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Vitamin K epoxide reductase deficiency (Other disorders of vitamins and cofactors) Inherited bleeding disorders Tags
Amber List (moderate evidence)	VPS33B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes ARC Syndrome (Other metabolic disorders) CAKUT Unexplained kidney failure in young people Inherited bleeding disorders Arthrogryposis Tags
Amber List (moderate evidence)	WFS1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Diabetes with additional phenotypes suggestive of a monogenic aetiology Inherited optic neuropathies Wolfram syndrome 1, 222300 Mitochondrial respiratory chain disorders caused by nuclear variants only Hereditary ataxia Familial diabetes Congenital hearing impairment (profound/severe) Tags
Amber List (moderate evidence)	XPNPEP3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes nephronophthisis-like nephropathy Tags
Red List (low evidence)	A2ML1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Noonan syndrome Tags
Red List (low evidence)	ABCG2	0 reviews	Unknown	Sources Expert Review Red Phenotypes Primary idiopathic gout (Disorders of purine metabolism) [Junior blood group system] 614490 [Uric acid concentration, serum, QTL1] 138900 Tags
Red List (low evidence)	AHCY	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes S-adenosylhomocysteine hydrolase deficiency (Disorders of the metabolism of sulphur amino acids) Tags
Red List (low evidence)	AKAP9	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London South GLH North West GLH Phenotypes Long QT syndrome-11 (611820) ?Long QT syndrome-11 611820 Long QT syndrome-11 Tags
Red List (low evidence)	ALDH1B1	0 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Succinic semialdehyde dehydrogenase deficiency Tags
Red List (low evidence)	ALG10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Progressive myoclonus epilepsy CDG Tags
Red List (low evidence)	ALG10B	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Other Phenotypes {Acquired long QT syndrome, reduced susceptibility to} OMIM:613688 Tags
Red List (low evidence)	ALG14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227 Congenital myasthenic sydrome (Disorders of protein N-glycosylation) Tags
Red List (low evidence)	ALG2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Myasthenic syndrome, congenital, 14, with tubular aggregates 616228 Mannosyltransferase 2 deficiency (Disorders of protein N-glycosylation) ?Congenital disorder of glycosylation, type Ii 607906 Tags
Red List (low evidence)	ALMS1	1 review	Not set	Sources London South GLH Tags
Red List (low evidence)	AMPD1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Myoadenylate deaminase deficiency (Disorders of purine metabolism) Myopathy due to myoadenylate deaminase deficiency 615511 Tags
Red List (low evidence)	ANO5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Limb-Girdle Muscular Dystrophy, Recessive Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319 Gnathodiaphyseal dysplasia, 166260 Tags
Red List (low evidence)	AOX1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Xanthinuria type II (Disorders of purine metabolism) Tags
Red List (low evidence)	ARSG	0 reviews	Unknown	Sources Expert Review Red Phenotypes neuronal ceroid lipofuscinosis Tags
Red List (low evidence)	ASCL1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes CCHS Central hypoventilation syndrome, congenital, 209880 Tags
Red List (low evidence)	ATAD3B	0 reviews	Unknown	Sources Expert Review Red Phenotypes Influence on AIDS progression No OMIM phenotype Tags
Red List (low evidence)	ATP5A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) ?Combined oxidative phosphorylation deficiency 22 ?Combined oxidative phosphorylation deficiency 22 616045 ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4 615228 ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4 Tags new-gene-name
Red List (low evidence)	ATP5B	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags new-gene-name
Red List (low evidence)	ATP5C1	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags new-gene-name
Red List (low evidence)	ATP5E	1 review	Unknown	Sources Expert Review Red Phenotypes syndromic HCM Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 Tags new-gene-name
Red List (low evidence)	ATP5G1	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags new-gene-name
Red List (low evidence)	ATP5G2	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags new-gene-name
Red List (low evidence)	ATP5G3	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags new-gene-name
Red List (low evidence)	ATP5I	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags new-gene-name
Red List (low evidence)	ATP5J	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags new-gene-name
Red List (low evidence)	ATP5O	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags new-gene-name
Red List (low evidence)	ATXN7	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Spinocerebellar ataxia 7 164500 Spinocerebellar ataxia-7 (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Red List (low evidence)	BCAT1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria) Tags
Red List (low evidence)	BCAT2	0 reviews	Unknown	Sources Expert Review Red Phenotypes Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria) Tags
Red List (low evidence)	BDNF	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes CCHS Central hypoventilation syndrome, congenital, 209880 Tags
Red List (low evidence)	BOLA1	0 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red List (low evidence)	BOLA2	0 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red List (low evidence)	C1GALT1C1	0 reviews	Other - please specify in evaluation comments	Sources Expert Review Red Phenotypes COSMC-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies) Tn polyagglutination syndrome, somatic Tn polyagglutination syndrome, somatic 300622 Tags
Red List (low evidence)	CAD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?Congenital disorder of glycosylation, type Iz 616457 Tags
Red List (low evidence)	CALM3	0 reviews	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	CALR3	1 review	Unknown	Sources Expert Review Red London South GLH Phenotypes Cardiomyopathy, familial hypertrophic, 19 Tags
Red List (low evidence)	CARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) No OMIM phenotype Tags
Red List (low evidence)	CAV3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London South GLH Phenotypes Cardiomyopathy, familial hypertrophic, Brugada/Brugada like syndrome Long QT syndrome-9 Tags
Red List (low evidence)	CAVIN4	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dilated cardiomyopathy Tags
Red List (low evidence)	CD320	0 reviews	Unknown	Sources Expert Review Red Phenotypes Methylmalonic aciduria due to transcobalamin receptor defect Tags
Red List (low evidence)	CEP89	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes isolated complex IV deficiency, intellectual disability and multisystemic problems Tags
Red List (low evidence)	CETP	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes [High density lipoprotein cholesterol level QTL 10] 143470 Familial hyperalphalipoproteinaemia (Disorders of high density lipoprotein metabolism) Hyperalphalipoproteinemia 143470 Tags
Red List (low evidence)	CLPS	0 reviews	Unknown	Sources Expert Review Red Phenotypes Pancreatic colipase deficiency (Other disorders of lipid and lipoprotein metabolism) Tags
Red List (low evidence)	CNDP1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Carnosinaemia (Other disorders of peptide metabolism) Tags
Red List (low evidence)	COA1	0 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red List (low evidence)	COA5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 Mitochondrial complex IV deficiency, 220110 Isolated complex IV deficiency Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) syndromic HCM Tags
Red List (low evidence)	COG2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?Congenital disorder of glycosylation, type IIq, 617395 Tags
Red List (low evidence)	COL4A2	0 reviews	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	COQ7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes complex multisystem presentation primary coenzyme Q10 deficiency Tags
Red List (low evidence)	COX4I1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Mitochondrial Diseases No OMIM phenotype Tags
Red List (low evidence)	COX4I2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714 Mitochondrial Diseases Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 612714 Tags
Red List (low evidence)	COX5A	0 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red List (low evidence)	COX5B	0 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red List (low evidence)	COX6C	0 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red List (low evidence)	COX7A1	0 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red List (low evidence)	COX7A2	0 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red List (low evidence)	COX7B2	0 reviews	Unknown	Sources Expert Review Red Phenotypes ?{Nasopharyngeal carcinoma, susceptibility to}, 607107 Tags
Red List (low evidence)	COX7C	0 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red List (low evidence)	COX8A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Leigh-like syndrome and epilepsy Tags
Red List (low evidence)	CTF1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Tags
Red List (low evidence)	CTNNA3	0 reviews	Unknown	Sources Expert Review Red Phenotypes Arrhythmogenic right ventricular dysplasia, familial, 13, Tags
Red List (low evidence)	CYP7A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Cholesterol 7-alpha-hydroxylase deficiency (Disorders of bile acid biosynthesis) Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency Tags
Red List (low evidence)	DDOST	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?Congenital disorder of glycosylation, type Ir 614507 Tags
Red List (low evidence)	DHFR2	0 reviews	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	DLG1	0 reviews	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	DLST	0 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype?Familial Alzheimer disease Tags
Red List (low evidence)	DMGDH	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dimethylglycine dehydrogenase deficiency 605850 Dimethylglycinuria (Disorders and variants of enzymes that oxidise xenobiotics other than cytochrome P450) Tags
Red List (low evidence)	DMPK	0 reviews	Unknown	Sources Expert Review Red Phenotypes syndromic DCM Tags
Red List (low evidence)	DNM2	0 reviews	Unknown	Sources Expert Review Red Phenotypes Disorders of mitochondrial DNA maintenance and integrity Tags
Red List (low evidence)	DPEP1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Cysteinylglycinase deficiency (Disorders of the gamma-glutamyl cycle) Tags
Red List (low evidence)	DPP6	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Ventricular fibrillation, paroxysmal familial, 2, Tags
Red List (low evidence)	DTD1	0 reviews	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	DTNA	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London South GLH Phenotypes Left ventricular noncompaction 1, with or without congenital heart defects, Tags
Red List (low evidence)	DUX4	0 reviews	Unknown	Sources Expert Review Red Phenotypes Facioscapulohumeral Muscular Dystrophy 1A Tags
Red List (low evidence)	ECSIT	0 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Isolated complex I deficiency Tags
Red List (low evidence)	EDN3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes CCHS Central hypoventilation syndrome, congenital, 209880 Tags
Red List (low evidence)	EGF	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Hypomagnesaemia type 4, renal (Disorder of magnesium metabolism) Tags
Red List (low evidence)	EMD	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red London South GLH Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 Tags
Red List (low evidence)	ERCC6L2	0 reviews	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	FBP2	0 reviews	Unknown	Sources Expert Review Red Phenotypes isolated lactic acidosis Tags
Red List (low evidence)	FDX2	0 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype?Mitochondrial myopathy with lactic acidosis, association with, 255125 Tags
Red List (low evidence)	FHL2	0 reviews	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	FOLR2	0 reviews	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	FOLR3	0 reviews	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	FXYD2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Hypomagnesemia 2, renal 154020 Hypomagnesaemia type 2, renal (Disorder of magnesium metabolism) Tags
Red List (low evidence)	GALNT12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes (GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)) GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies) {Colorectal cancer, susceptibility to, 1} 608812 Tags
Red List (low evidence)	GATB	0 reviews	Unknown	Sources Expert Review Red Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Red List (low evidence)	GATC	0 reviews	Unknown	Sources Expert Review Red Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Red List (low evidence)	GCSH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Glycine encephalopathy Tags
Red List (low evidence)	GDNF	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Central hypoventilation syndrome, 209880 CCHS Tags
Red List (low evidence)	GFM2	0 reviews	Unknown	Sources Expert Review Red Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Red List (low evidence)	GGT1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Gamma-glutamyl transpeptidase deficiency Glutathionuria (Disorders of the gamma-glutamyl cycle) Tags
Red List (low evidence)	GJA5	1 review	Not set	Sources London South GLH Tags
Red List (low evidence)	GLS	0 reviews	Unknown	Sources Expert Review Red Phenotypes Glucosidase 1 deficiency (Disorders of protein N-glycosylation) Tags
Red List (low evidence)	GORAB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Geroderma osteodysplasticum Tags
Red List (low evidence)	HAL	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Histidinaemia (Disorders of histidine, tryptophan or lysine metabolism) Tags
Red List (low evidence)	HARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Perrault syndrome 2, 614926 ?Perrault syndrome 2 614926 Tags
Red List (low evidence)	HSPA9	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia Epiphyseal, Vertebral, Ear, Nose, plus associated findings Tags
Red List (low evidence)	HYKK	0 reviews	Unknown	Sources Expert Review Red Phenotypes Hydroxylysinuria (Disorders of histidine, tryptophan or lysine metabolism) Tags
Red List (low evidence)	IDH3B	0 reviews	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	ILK	1 review	Unknown	Sources Expert Review Red London South GLH Tags
Red List (low evidence)	ISCA2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes infantile neurodegenerative mitochondrial disorder Tags
Red List (low evidence)	KCNA5	1 review	Not set	Sources London South GLH Tags
Red List (low evidence)	KCND2	0 reviews	Unknown	Sources Expert Review Red Phenotypes J-wave syndrome with sudden cardiac death sudden arrhythmic death sudden cardiac arrest Tags
Red List (low evidence)	KCND3	1 review	Unknown	Sources Expert Review Red London South GLH Phenotypes sudden unexplained death arrhythmia Brugada/Brugada like syndrome sudden cardiac arrest Tags
Red List (low evidence)	KCNE5	0 reviews	Unknown	Sources Expert Review Red Phenotypes Idiopathic ventricular fibrillation Brugada syndrome atrial fibrillation Tags
Red List (low evidence)	KHK	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Essential fructosuria (Disorders of fructose metabolism) Tags
Red List (low evidence)	KLF10	1 review	Unknown	Sources Expert Review Red London South GLH Phenotypes Hypertrophic cardiomyopathy Tags
Red List (low evidence)	LACTB	0 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red List (low evidence)	LAMA4	1 review	Unknown	Sources Expert Review Red London South GLH Tags
Red List (low evidence)	LARS	1 review	Unknown	Sources Expert Review Red Tags new-gene-name
Red List (low evidence)	LETM1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Red List (low evidence)	LFNG	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) ?Spondylocostal dysostosis 3, autosomal recessive 609813 ?Spondylocostal dysostosis 3, autosomal recessive, 609813 LFNG-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Tags
Red List (low evidence)	LIPI	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes {Hypertriglyceridemia, susceptibility to}, 145750 Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias) Tags
Red List (low evidence)	LIPT2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Tags
Red List (low evidence)	LRP5	0 reviews	Unknown	Sources Expert Review Red Phenotypes short qt Tags
Red List (low evidence)	LYRM4	0 reviews	Unknown	Sources Expert Review Red Phenotypes ?Combined oxidative phosphorylation deficiency 19, 615595 Tags
Red List (low evidence)	LYRM7	0 reviews	Unknown	Sources Expert Review Red Phenotypes Isolated complex III deficiency Tags
Red List (low evidence)	MECR	0 reviews	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	MIB1	1 review	Unknown	Sources Expert Review Red London South GLH Phenotypes Left ventricular noncompaction 7 Tags
Red List (low evidence)	MPC1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Mitochondrial pyruvate carrier deficiency, 614741 Tags
Red List (low evidence)	MPO	0 reviews	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	MRPL12	0 reviews	Unknown	Sources Expert Review Red Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) No OMIM phenotype Tags
Red List (low evidence)	MRPL40	0 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red List (low evidence)	MRPS16	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Combined oxidative phosphorylation deficiency 2, 610498 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) CORPUS CALLOSUM, AGENESIS OF, WITH DYSMORPHISM AND FATAL LACTIC ACIDOSIS Tags
Red List (low evidence)	MRPS2	0 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red List (low evidence)	MRPS23	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes hepatic disease and combined respiratory chain complex deficiencies Tags
Red List (low evidence)	MRPS7	0 reviews	Unknown	Sources Expert Review Red Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Red List (low evidence)	MTHFD1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes {Abruptio placentae, susceptibility to} {Spina bifida, folate-sensitive, susceptibility to} 601634 AR Tags
Red List (low evidence)	MYO6	0 reviews	Unknown	Sources Expert Review Red Phenotypes Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy Tags
Red List (low evidence)	MYOM1	0 reviews	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	MYOZ2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London South GLH Phenotypes Cardiomyopathy, familial hypertrophic, 16, Tags
Red List (low evidence)	NADK2	0 reviews	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	NAT8L	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?N-acetylaspartate deficiency 614063 Tags
Red List (low evidence)	NAXE	0 reviews	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	NDUFA12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Leigh syndrome due to mitochondrial complex 1 deficiency,256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Isolated complex I deficiency Tags
Red List (low evidence)	NDUFA13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Mitochondrial Diseases {Thyroid carcinoma, Hurthle cell}, 607464 Isolated complex I deficiency Tags
Red List (low evidence)	NDUFA3	0 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Isolated complex I deficiency Tags
Red List (low evidence)	NDUFA5	0 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Isolated complex I deficiency Tags
Red List (low evidence)	NDUFA6	0 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Isolated complex I deficiency Tags
Red List (low evidence)	NDUFA7	0 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Isolated complex I deficiency Tags
Red List (low evidence)	NDUFA8	0 reviews	Unknown	Sources Expert Review Red Phenotypes Mitochondrial Diseases No OMIM phenotype Isolated complex I deficiency Tags
Red List (low evidence)	NDUFA9	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000 Leigh syndrome due to mitochondrial complex I deficiency, 256000 -3 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Isolated complex I deficiency Tags
Red List (low evidence)	NDUFAB1	0 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Isolated complex I deficiency Tags
Red List (low evidence)	NDUFB1	0 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Isolated complex I deficiency Tags
Red List (low evidence)	NDUFB10	0 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Isolated complex I deficiency Tags
Red List (low evidence)	NDUFB2	0 reviews	Unknown	Sources Expert Review Red Phenotypes Isolated complex I deficiency Tags
Red List (low evidence)	NDUFB4	0 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Isolated complex I deficiency Tags
Red List (low evidence)	NDUFB5	0 reviews	Unknown	Sources Expert Review Red Phenotypes Isolated complex I deficiency Tags
Red List (low evidence)	NDUFB6	0 reviews	Unknown	Sources Expert Review Red Phenotypes Isolated complex I deficiency Tags
Red List (low evidence)	NDUFB7	0 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Isolated complex I deficiency Tags
Red List (low evidence)	NDUFB8	0 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Isolated complex I deficiency Tags
Red List (low evidence)	NDUFC1	0 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Isolated complex I deficiency Tags
Red List (low evidence)	NDUFC2	0 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Isolated complex I deficiency Tags
Red List (low evidence)	NDUFS5	0 reviews	Unknown	Sources Expert Review Red Phenotypes Mitochondrial Diseases No OMIM phenotype Isolated complex I deficiency Tags
Red List (low evidence)	NDUFV3	0 reviews	Unknown	Sources Expert Review Red Phenotypes Mitochondrial Diseases No OMIM phenotype Isolated complex I deficiency Tags
Red List (low evidence)	NEBL	0 reviews	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	NFS1	0 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red List (low evidence)	NKX2-5	1 review	Unknown	Sources Expert Review Red London South GLH Phenotypes Atrialseptaldefect7,withorwithoutAVconductiondefects,108900 Tags
Red List (low evidence)	NNT	0 reviews	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	NOS1AP	0 reviews	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	NPPA	1 review	Unknown	Sources Expert Review Red London South GLH Phenotypes Dilated cardiomyopathy Tags
Red List (low evidence)	NT5C	0 reviews	Unknown	Sources Expert Review Red Phenotypes Pyrimidine - 5 - nucleotidase deficiency (Disorders of pyrimidine metabolism) Tags
Red List (low evidence)	NUP62	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Infantile striatal necrosis (Other metabolic disorders) Striatonigral degeneration, infantile, 271930 Tags
Red List (low evidence)	NUS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?Congenital disorder of glycosylation, type 1aa 617082 Tags
Red List (low evidence)	OGDH	0 reviews	Unknown	Sources Expert Review Red 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 List (low evidence)	OXA1L	0 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red List (low evidence)	PABPN1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Oculopharyngeal muscular dystrophy, 164300 Oculopharyngeal muscular dystrophy Tags
Red List (low evidence)	PDK1	0 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) Tags
Red List (low evidence)	PDK2	0 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) Tags
Red List (low evidence)	PDK3	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 Red Phenotypes ?Charcot-Marie-Tooth disease, X-linked dominant, 6 300905 ?Charcot-Marie-Tooth disease, X-linked dominant, 6, 300905 Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) Tags
Red List (low evidence)	PDK4	0 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) Tags
Red List (low evidence)	PDLIM3	1 review	Unknown	Sources Expert Review Red London South GLH Tags
Red List (low evidence)	PDP2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) Tags
Red List (low evidence)	PDXK	0 reviews	Unknown	Sources Expert Review Red Phenotypes Pryridoxal kinase deficiency (Disorders of pyridoxine metabolism) Tags
Red List (low evidence)	PEX11A	0 reviews	Unknown	Sources Expert Review Red Phenotypes Zellweger syndrome peroxisome proliferation mild peroxisomal biogenesis defect Tags
Red List (low evidence)	PHKG1	0 reviews	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	PHYKPL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Hydroxylysinuria (Disorders of histidine, tryptophan or lysine metabolism) [?Phosphohydroxylysinuria] 615011 Tags
Red List (low evidence)	PIGW	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?Hyperphosphatasia with mental retardation syndrome 5 Tags
Red List (low evidence)	PITRM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes mental retardation, spinocerebellar ataxia, cognitive decline and psychosis Tags
Red List (low evidence)	PLEC	0 reviews	Unknown	Sources Expert Review Red Phenotypes Muscular dystrophy with epidermolysis bullosa simplex, 226670 Tags
Red List (low evidence)	PNLIP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Pancreatic triacylglycerol lipase deficiency (Other disorders of lipid and lipoprotein metabolism) Pancreatic lipase deficiency 614338 Tags
Red List (low evidence)	PNPLA4	0 reviews	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	PNPLA8	0 reviews	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	POP1	0 reviews	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	PPM1B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Hypotonia-cystinuria syndrome (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Red List (low evidence)	PPM1K	0 reviews	Unknown	Sources Expert Review Red Phenotypes ?Maple syrup urine disease, mild variant 615135 Tags
Red List (low evidence)	PRDM16	1 review	Unknown	Sources Expert Review Red London South GLH Phenotypes Left ventricular noncompaction 8 Cardiomyopathy, dilated, 1LL Tags
Red List (low evidence)	PREPL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Hypotonia-cystinuria syndrome 606407 Hypotonia-cystinuria syndrome (Disorders of amino acid transport) Tags
Red List (low evidence)	PTCD1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Red List (low evidence)	PTPRZ1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Hyperlysinaemia (Disorders of histidine, tryptophan or lysine metabolism) {H. pylori infection, susceptibility to} 600263 Tags
Red List (low evidence)	QRSL1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Red List (low evidence)	RANGRF	1 review	Unknown	Sources Expert Review Red London South GLH Phenotypes Brugada/Brugada like syndrome Tags
Red List (low evidence)	RASA2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Noonan syndrome? Tags
Red List (low evidence)	RET	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes CCHS Central hypoventilation syndrome, congenital, 209880 Tags
Red List (low evidence)	RTN4IP1	0 reviews	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	SARDH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes [Sarcosinemia] 268900 Sarcosinaemia (Disorders of serine, glycine or glycerate metabolism) Tags
Red List (low evidence)	SCARB1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes [High density lipoprotein cholesterol level QTL6] 610762 Scavenger receptor class B type I deficiency (Inherited hypolipidaemias) Tags
Red List (low evidence)	SCN2B	0 reviews	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	SCN4B	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London South GLH North West GLH Phenotypes Long QT syndrome-10 Tags
Red List (low evidence)	SFXN4	0 reviews	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	SGCB	1 review	Unknown	Sources Expert Review Red London South GLH Phenotypes Dilated cardiomyopathy Tags
Red List (low evidence)	SGCG	1 review	Not set	Sources London South GLH Tags
Red List (low evidence)	SHPK	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Sedoheptulokinase deficiency (Other metabolic disorders) [Sedoheptulokinase deficiency] 617213 Tags
Red List (low evidence)	SLC22A4	0 reviews	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	SLC25A2	0 reviews	Unknown	Sources Expert Review Red Phenotypes Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism) Tags
Red List (low evidence)	SLC25A40	0 reviews	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	SLC25A42	0 reviews	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	SLC27A5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Bile acid CoA ligase deficiency (Disorders of bile acid biosynthesis) Tags
Red List (low evidence)	SLC35A3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Arthrogryposis, mental retardation, and seizures Tags
Red List (low evidence)	SLC36A2	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Iminoglycinuria, digenic 242600 Hyperglycinuria 138500 Hyperglycinuria AR Tags
Red List (low evidence)	SLC52A1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Riboflavin deficiency 615026 Tags
Red List (low evidence)	SLC6A20	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Hyperglycinuria Tags refuted
Red List (low evidence)	SLC6A4	0 reviews	Unknown	Sources Expert Review Red Phenotypes Sudden infant death syndrome Tags
Red List (low evidence)	SLCO1B1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Hyperbilirubinemia, Rotor type, digenic Tags
Red List (low evidence)	SLCO1B3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Hyperbilirubinemia, Rotor type, digenic Tags
Red List (low evidence)	SLMAP	0 reviews	Unknown	Sources Expert Review Red Phenotypes Brugada/Brugada like syndrome Tags
Red List (low evidence)	SMCHD1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 Tags
Red List (low evidence)	SRRT	0 reviews	Unknown	Sources Expert Review Red Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Red List (low evidence)	STAT2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes elongated mitochondria severe neurological deterioration following viral infection Tags
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 List (low evidence)	SUCLG2	0 reviews	Unknown	Sources Expert Review Red Phenotypes Succinyl-CoA synthetase deficiency (Other metabolic disorders) No OMIM phenotype Tags
Red List (low evidence)	SUGCT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Glutaric aciduria type III (Organic acidurias) Glutaric aciduria type III 231690 Tags
Red List (low evidence)	SYNE2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Emery-Dreifuss Muscular Dystrophy Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 syndromic DCM Tags
Red List (low evidence)	TBX20	1 review	Not set	Sources London South GLH Tags
Red List (low evidence)	TCN1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Haptocorrin deficiency (Disorders of cobalamin absorption, transport and metabolism) No OMIM number Tags
Red List (low evidence)	TDO2	0 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM number Tryptophanaemia (Disorders of histidine, tryptophan or lysine metabolism) Tags
Red List (low evidence)	TGFB3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London South GLH Phenotypes Arrhythmogenic right ventricular dysplasia 1 Tags
Red List (low evidence)	TIMM44	0 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red List (low evidence)	TM6SF2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes non-alcoholic fatty liver disease Tags
Red List (low evidence)	TMEM126A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Optic atrophy-7, 612989 Optic atrophy 7 612989 Tags
Red List (low evidence)	TMEM199	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Congenital disorder of glycosylation, type IIp 616829 Tags new-gene-name
Red List (low evidence)	TMPO	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London South GLH North West GLH Phenotypes Dilated Cardiomyopathy, Dominant Tags
Red List (low evidence)	TPMT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Thiopurine S-methyltransferase deficiency (Disorders of purine metabolism) {Thiopurines, poor metabolism of, 1} 610460 Tags
Red List (low evidence)	TRAP1	0 reviews	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	TRAPPC11	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes congenital muscular dystrophy (CMD), progressive fatty liver and infantile-onset cataract infantile-onset muscle weakness Muscular dystrophy, limb-girdle, type 2S Tags
Red List (low evidence)	TREH	0 reviews	Unknown	Sources Expert Review Red Phenotypes Trehalase deficiency (Other carbohydrate disorders) Tags
Red List (low evidence)	TRIM63	0 reviews	Unknown	Sources Expert Review Red Phenotypes Hypertrophic cardiomyopathy Tags
Red List (low evidence)	TRIT1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) No OMIM phenotype Tags
Red List (low evidence)	TRMT10C	0 reviews	Unknown	Sources Expert Review Red Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Red List (low evidence)	TRMT5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Multiple Respiratory-Chain Deficiencies Tags
Red List (low evidence)	TSPYL1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Sudden infant death with dysgenesis of the testes syndrome,608800 SIDDT Tags
Red List (low evidence)	TXN2	0 reviews	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 List (low evidence)	TXNRD2	1 review	Unknown	Sources Expert Review Red London South GLH Tags
Red List (low evidence)	UPB1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Beta-ureidopropionase deficiency (Disorders of pyrimidine metabolism) Beta-ureidopropionase deficiency 613161 Tags
Red List (low evidence)	UQCC2	0 reviews	Unknown	Sources Expert Review Red Phenotypes Isolated complex III deficiency Tags
Red List (low evidence)	UQCC3	0 reviews	Unknown	Sources Expert Review Red Phenotypes ?Mitochondrial complex III deficiency, nuclear type, 616111 Isolated complex III deficiency Tags
Red List (low evidence)	UQCRC1	0 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red List (low evidence)	UQCRC2	0 reviews	Unknown	Sources Expert Review Red Phenotypes Mitochondrial complex III deficiency, nuclear type 5, 615160 Isolated complex III deficiency Tags
Red List (low evidence)	UQCRFS1	0 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red List (low evidence)	UQCRH	0 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red List (low evidence)	USF1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Familial combined hyperlipoproteinaemia (Inherited mixed hyperlipidaemias) Tags
Red List (low evidence)	VPS13C	0 reviews	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	WARS2	0 reviews	Unknown	Sources Expert Review Red Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Red List (low evidence)	XK	0 reviews	Unknown	Sources Expert Review Red Phenotypes syndromic DCM Tags

Molecular autopsy (Version 0.116)

8 reviewers

1043 Entities

164 reviewed, 651 green

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