Epilepsy - early onset or syndromic (Version 8.371)

This Panel is marked as Internal

Description

This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service; the panel will routinely be applied for clinical indication 'R59 Early onset or syndromic epilepsy' but can also be used as part of the analysis for a broader clinical presentation, where relevant.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R59 Early onset or syndromic epilepsy'.

This panel is a super panel composed of constituent panels: 'Genetic epilepsy syndromes' & 'Inborn errors of metabolism' for the clinical indication 'R59 Early onset or syndromic epilepsy'. Changes made to this panel will automatically be updated in the relevant constituent panel(s).

The content of this panel is overseen by the NHS Genomic Medicine Service governance.

One or more of the constituent panels of this super panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

1785 Entities

1646 reviewed, 1312 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 1785 Entitiess
Green Green List (high evidence)	AARS Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 29, OMIM:616339 Developmental and epileptic encephalopathy, 29, MONDO:0014593 Tags new-gene-name
Green Green List (high evidence)	AARS2 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only) Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Combined oxidative phosphorylation deficiency 8, 614096 infantile mitochondrial cardiomyopathy Tags
Green Green List (high evidence)	AASS Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hyperlysinemia, OMIM:238700 Hyperlysinemia (disease), MONDO:0009388 Tags
Green Green List (high evidence)	ABAT Likely inborn error of metabolism - targeted testing not possible v4.137	5 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes 613163 GABA transaminase deficiency (Disorders of neurotransmitter metabolism, gamma-aminobutyrate) mtDNA depletion syndrome Tags
Green Green List (high evidence)	ABAT Early onset or syndromic epilepsy v4.196	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Literature Phenotypes GABA-transaminase deficiency 613163 Tags
Green Green List (high evidence)	ABCA1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Tangier disease (Disorders of high density lipoprotein metabolism) Tags
Green Green List (high evidence)	ABCB11 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Progressive familial intrahepatic cholestasis type 2 (Disorders of bile acid metabolism and transport) Cholestasis, benign recurrent intrahepatic, 2 605479 Cholestasis, progressive familial intrahepatic 2 601847 Tags
Green Green List (high evidence)	ABCB4 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Gallbladder disease 1 600803 AD, AR Cholestasis, progressive familial intrahepatic 3 602347 AR Progressive familial intrahepatic cholestasis type 3 (Disorders of bile acid metabolism and transport) Cholestasis, intrahepatic, of pregnancy, 3 614972 AD, AR Tags
Green Green List (high evidence)	ABCB7 Likely inborn error of metabolism - targeted testing not possible v4.137	5 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources London North GLH NHS GMS Expert Review Green Phenotypes Anemia, sideroblastic, with ataxia OMIM:301310 X-linked sideroblastic anemia with ataxia MONDO:0010524 Tags
Green Green List (high evidence)	ABCD1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources London North GLH NHS GMS Expert Review Green Phenotypes X-linked adrenoleukodystrophy (Disorders of peroxisomal alpha-, beta and omega-oxidation) Adrenoleukodystrophy 300100 Tags
Green Green List (high evidence)	ABCD4 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria, cblJ type Tags
Green Green List (high evidence)	ABCG5 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Sitosterolaemia (Inherited hypercholesterolaemias) Familial hypercholesterolaemia Tags
Green Green List (high evidence)	ABCG8 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Sitosterolaemia (Inherited hypercholesterolaemias) Familial hypercholesterolaemia Tags
Green Green List (high evidence)	ABHD12 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hereditary ataxia Posterior segment abnormalities Congenital hearing impairment (profound/severe) PHARC syndrome (Disorders of complex lipid synthesis) Tags
Green Green List (high evidence)	ABHD5 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Chanarin-Dorfman syndrome 275630 Neutral lipid storage disease (Disorders of lipolysis) Tags
Green Green List (high evidence)	ACAD8 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Isobutyric aciduria (Organic acidurias) Tags
Green Green List (high evidence)	ACAD9 Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex I deficiency due to ACAD9 deficiency ACAD9 deficiency, 611126 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Isolated complex I deficiency Tags
Green Green List (high evidence)	ACADM Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes Acyl-CoA dehydrogenase, medium chain, deficiency of Medium - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation) Tags
Green Green List (high evidence)	ACADS Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes Acyl-CoA dehydrogenase, short-chain, deficiency of Tags
Green Green List (high evidence)	ACADSB Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes 2-methylbutyrylglycinuria 610006 2-Methylbutyric aciduria (Organic acidurias) Tags
Green Green List (high evidence)	ACADVL Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes VLCAD deficiency Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation) Tags
Green Green List (high evidence)	ACAT1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes Cytosolic acetoacetyl-CoA thiolase deficiency (Disorders of ketone body metabolism) Fasting intolerance with acidosis, ? residual neurological problems 3-Oxothiolase deficiency (Organic acidurias) Tags
Green Green List (high evidence)	ACO2 Likely inborn error of metabolism - targeted testing not possible v4.137	5 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Infantile cerebellar-retinal degeneration, 614559 Tags
Green Green List (high evidence)	ACOX1 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470 Tags
Green Green List (high evidence)	ACOX1 Early onset or syndromic epilepsy v4.196	5 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470 Mitchell syndrome, OMIM:618960 Tags
Green Green List (high evidence)	ACSF3 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Combined methylmalonic and malonic aciduria (Organic acidurias) Combined malonic and methylmalonic aciduria Tags
Green Green List (high evidence)	ACTL6B Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 76, OMIM:618468 Tags
Green Green List (high evidence)	ACY1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability Aminoacylase 1 deficiency (Organic acidurias) Tags
Green Green List (high evidence)	ADA Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Severe combined immunodeficiency due to ADA deficiency, OMIM:102700 Adenosine deaminase deficiency, partial, OMIM:102700 Tags
Green Green List (high evidence)	ADAR Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Aicardi-Goutieres syndrome 6, OMIM:615010 Dyschromatosis symmetrica hereditaria, OMIM:127400 Tags
Green Green List (high evidence)	ADAR Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Aicardi-Goutieres syndrome 6, OMIM:615010 Tags
Green Green List (high evidence)	ADARB1 Early onset or syndromic epilepsy v4.196	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862 Tags
Green Green List (high evidence)	ADGRG1 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Polymicrogyria, bilateral frontoparietal, 606854 Tags
Green Green List (high evidence)	ADPRHL2 Early onset or syndromic epilepsy v4.196	6 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Literature Phenotypes Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170 neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095 Tags new-gene-name
Green Green List (high evidence)	ADSL Early onset or syndromic epilepsy v4.196	6 reviews 5 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services UKGTN Expert Expert Review Green Phenotypes Adenylosuccinase deficiency Tags
Green Green List (high evidence)	ADSL Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability Epileptic encephalopathy Adenylosuccinate lyase deficiency (Disorders of purine metabolism) Tags
Green Green List (high evidence)	AFF3 Early onset or syndromic epilepsy v4.196	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Literature Phenotypes KINSSHIP syndrome, OMIM:619297 Tags missense
Green Green List (high evidence)	AFG3L2 Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Optic atrophy 12, OMIM:618977 Spinocerebellar ataxia 28, OMIM:610246 Spastic ataxia 5, autosomal recessive, OMIM:614487 Tags
Green Green List (high evidence)	AGA Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Aspartylglucosaminuria Tags
Green Green List (high evidence)	AGK Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Mitochondrial DNA depletion syndrome 10 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Acylglycerol kinase deficiency (Senger syndrome) (Disorders of complex lipid synthesis) Sengers syndrome, 212350 Sengers syndrome 212350 Disorders of mitochondrial lipid metabolism Cataract 38, autosomal recessive, 614691 Tags
Green Green List (high evidence)	AGL Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycogen storage disease type III, Cori (Glycogen storage disorders) Glycogen storage disease IIIb, 232400 Glycogen Storage Disorders- Liver Glycogen Storage Disease myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance Glycogen Storage Disease Type III Glycogen Storage Disorders- Muscle Glycogen storage disease IIIa, 232400 Tags
Green Green List (high evidence)	AGPS Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Rhizomelic chondrodysplasia punctata, type 3 600121 Rhizomelic chondrodysplasia punctata type 3 (Peroxisomal disorders) Tags
Green Green List (high evidence)	AGXT Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Primary hyperoxaluria type I (Other peroxisomal disorders) Primary hyperoxaluria type I (Disorders of glyoxylate metabolism) Hyperoxaluria, primary, type 1 Tags
Green Green List (high evidence)	AHCY Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 Disorders of the metabolism of sulphur amino acids Tags treatable
Green Green List (high evidence)	AIFM1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources London North GLH NHS GMS Expert Review Green Phenotypes Disorders of mitochondrial apoptosis Cowchock syndrome, 310490 Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Combined oxidative phosphorylation deficiency 6, 300816 Tags
Green Green List (high evidence)	AIMP1 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating, 3, OMIM:260600 Tags
Green Green List (high evidence)	AKR1D1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes ?4-3-oxysterol 5?-reductase deficiency (Disorders of bile acid biosynthesis) Bile acid synthesis defect, congenital, 2 235555 Tags
Green Green List (high evidence)	AKT3 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937 Tags
Green Green List (high evidence)	ALAD Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes {Lead poisoning, susceptibility to} 612740 Acute hepatic porphyria (Acute neuropathic porphyrias) Porphyria, acute hepatic 612740 Tags
Green Green List (high evidence)	ALAS2 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list London North GLH NHS GMS Phenotypes Anemia, sideroblastic, 1, OMIM:300751 Protoporphyria, erythropoietic, X-linked, OMIM:300752 Tags
Green Green List (high evidence)	ALDH18A1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list London North GLH NHS GMS Expert Review Green Phenotypes Cutis laxa, autosomal dominant 3 OMIM:616603 cutis laxa, autosomal dominant 3 MONDO:0014706 Cutis laxa, autosomal recessive, type IIIA OMIM:219150 ALDH18A1-related de Barsy syndrome MONDO:0009053 Spastic paraplegia 9A, autosomal dominant OMIM:601162 hereditary spastic paraplegia 9A MONDO:0011006 Spastic paraplegia 9B, autosomal recessive OMIM:616586 autosomal recessive complex spastic paraplegia type 9B MONDO:0014702 Tags
Green Green List (high evidence)	ALDH3A2 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Sjogren-Larsson syndrome, OMIM:270200 Tags
Green Green List (high evidence)	ALDH4A1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Intellectual disability Hyperprolinaemia type II (Disorders of ornithine or proline metabolism) Hyperprolinemia, type II Tags
Green Green List (high evidence)	ALDH5A1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Succinic semialdehyde dehydrogenase deficiency OMIM:271980 succinic semialdehyde dehydrogenase deficiency MONDO:0010083 Tags
Green Green List (high evidence)	ALDH5A1 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Succinic semialdehyde dehydrogenase deficiency OMIM:271980 succinic semialdehyde dehydrogenase deficiency MONDO:0010083 Tags
Green Green List (high evidence)	ALDH6A1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Methylmalonate semialdehyde dehydrogenase deficiency 614105 3-Hydroxyisobutyric aciduria (Organic acidurias) Methylmalonate semialdehyde dehydrogenase deficiency (Organic acidurias) Tags
Green Green List (high evidence)	ALDH7A1 Early onset or syndromic epilepsy v4.196	9 reviews 2 green 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Expert Review Green Expert Phenotypes Epilepsy, pyridoxine-dependent 266100 Tags treatable
Green Green List (high evidence)	ALDH7A1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Epilepsy, pyridoxine-dependent Tags
Green Green List (high evidence)	ALDOA Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycogen Storage Disease Aldolase A deficiency (Glycogen storage disorders) Glycogen storage disease XII, 611881 Tags
Green Green List (high evidence)	ALDOB Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS 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 Green List (high evidence)	ALG1 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ik 608540 Tags
Green Green List (high evidence)	ALG1 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mannosyltransferase 1 deficiency (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type Ik 608540 Tags
Green Green List (high evidence)	ALG11 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes ALG11-CDG (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type Ip 613661 Tags
Green Green List (high evidence)	ALG11 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Other Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ip Tags
Green Green List (high evidence)	ALG12 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ig 607143 Mannosyltransferase 8 deficiency (Disorders of protein N-glycosylation) Tags
Green Green List (high evidence)	ALG13 Early onset or syndromic epilepsy v4.196	7 reviews 5 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services UKGTN Expert Review Green Phenotypes Congenital disorder of glycosylation, type Is Infantile spasms and LGS Tags
Green Green List (high evidence)	ALG14 Early onset or syndromic epilepsy v4.196	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital myasthenic syndrome ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227 Tags
Green Green List (high evidence)	ALG14 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227 Congenital myasthenic sydrome (Disorders of protein N-glycosylation) Tags
Green Green List (high evidence)	ALG3 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mannosyltransferase 6 deficiency ALG3-CDG (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type Id 601110 Mannosyltransferase 6 deficiency (Disorders of protein N-glycosylation) ALG3-CDG (Disorders of protein N-glycosylation) Tags
Green Green List (high evidence)	ALG3 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Id 601110 Tags
Green Green List (high evidence)	ALG6 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ic 603147 Tags
Green Green List (high evidence)	ALG6 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ic 603147 Glucosyltransferase 1 deficiency (Disorders of protein N-glycosylation) Tags
Green Green List (high evidence)	ALG8 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glucosyltransferase 2 deficiency (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type Ih 608104 Tags
Green Green List (high evidence)	ALG8 Early onset or syndromic epilepsy v4.196	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ih 608104 Tags
Green Green List (high evidence)	ALG9 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation type Il 608776 Tags
Green Green List (high evidence)	ALG9 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mannosyltransferase 7-9 deficiency (Disorders of protein N-glycosylation) ALG9-CDG (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type Il 608776 Tags
Green Green List (high evidence)	ALKBH8 Early onset or syndromic epilepsy v4.196	7 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Expert Review Literature Phenotypes Intellectual developmental disorder, autosomal recessive 71, OMIM:618504 Tags
Green Green List (high evidence)	ALPL Early onset or syndromic epilepsy v4.196	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypophosphatasia, adult 146300 AD, AR Hypophosphatasia, childhood 241510 AR Hypophosphatasia, infantile 241500 AR Odontohypophosphatasia 146300 AD, AR Tags
Green Green List (high evidence)	ALPL Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hypophosphatasia, adult 146300 Hypophosphatasia, childhood 241510 Hypophosphatasia, infantile241500 Odontohypophosphatasia 146300 Tags
Green Green List (high evidence)	AMACR Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Alpha-methylacyl-CoA racemase deficiency Alpha-methylacyl-CoA racemase deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation) Tags
Green Green List (high evidence)	AMN Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Intrinsic factor receptor deficiency due to AMN mutations (Disorders of cobalamin absorption, transport and metabolism) Proteinuric renal disease Unexplained kidney failure in young people Tags
Green Green List (high evidence)	AMPD2 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 9 615809 Tags
Green Green List (high evidence)	AMT Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycine encephalopathy Tags
Green Green List (high evidence)	AMT Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycine encephalopathy 605899 Tags
Green Green List (high evidence)	ANKRD11 Early onset or syndromic epilepsy v4.196	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes KBG syndrome, 148050 Tags
Green Green List (high evidence)	ANO10 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 10, 613728 Tags
Green Green List (high evidence)	AP1G1 Early onset or syndromic epilepsy v4.196	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Literature Phenotypes Neurodevelopmental disorder (NDD) Intellectual Disability Epilepsy Tags
Green Green List (high evidence)	AP2M1 Early onset or syndromic epilepsy v4.196	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Expert Review Green Expert Review Green Expert Review Literature Phenotypes Intellectual developmental disorder 60 with seizures, 618587 Seizures Ataxia Generalized hypotonia Intellectual disability Global developmental delay Autistic behavior Tags missense
Green Green List (high evidence)	AP3B2 Early onset or syndromic epilepsy v4.196	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Literature Literature Phenotypes Epileptic encephalopathy, early infantile, 48 617276 Tags
Green Green List (high evidence)	APC2 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cortical dysplasia, complex, with other brain malformations 10 OMIM:618677 Tags
Green Green List (high evidence)	APOA1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Amyloidosis, 3 or more types OMIM:105200 familial visceral amyloidosis MONDO:0007099 ApoA-I and apoC-III deficiency, combined OMIM:618463 Hypoalphalipoproteinemia, primary, 2, with or without corneal clouding OMIM:618463 hypoalphalipoproteinemia, primary, 2 MONDO:0032766 Tags
Green Green List (high evidence)	APOA5 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hyperchylomicronemia, late-onset OMIM:144650 hyperlipoproteinemia type V MONDO:0007762 {Hypertriglyceridemia, susceptibility to} OMIM:145750 hypertriglyceridemia, familial MONDO:0007788 Tags
Green Green List (high evidence)	APOB Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hypercholesterolemia, familial, 2 OMIM:144010 hypercholesterolemia, autosomal dominant, type B MONDO:0007751 Hypobetalipoproteinemia OMIM:615558 familial hypobetalipoproteinemia 1 MONDO:0014252 Tags
Green Green List (high evidence)	APOC2 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hyperlipoproteinemia, type Ib 207750 Familial apolipoprotein C - II deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias) Tags
Green Green List (high evidence)	APOE Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Familial dysbetalipoproteinaemia (Inherited mixed hyperlipidaemias) Hyperlipoproteinemia, type III 617347 Sea-blue histiocyte disease 269600 Lipoprotein glomerulopathy 611771 Tags
Green Green List (high evidence)	APOPT1 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061 Isolated complex IV deficiency Tags new-gene-name
Green Green List (high evidence)	APRT Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Adenine phosphoribosyltransferase deficiency 614723 Adenine phosphoribosyl transferase deficiency (Disorders of purine metabolism) Tags
Green Green List (high evidence)	APTX Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Ataxia with oculomotor apraxia 1 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 Disorders of ubiquinone metabolism and biosynthesis Tags
Green Green List (high evidence)	ARF1 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Expert list Phenotypes Periventricular nodular heterotopia 8, OMIM:618185 Tags
Green Green List (high evidence)	ARFGEF1 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes Intellectual disability, MONDO:0001071 Epilepsy, MONDO:0005027 Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures, OMIM:619964 Tags
Green Green List (high evidence)	ARFGEF2 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Periventricular heterotopia with microcephaly 608097 Tags
Green Green List (high evidence)	ARG1 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Argininaemia (Urea cycle disorders and inherited hyperammonaemias) Argininemia, OMIM:207800 Tags
Green Green List (high evidence)	ARG1 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Literature Phenotypes Argininemia, OMIM:207800 Tags
Green Green List (high evidence)	ARHGEF9 Early onset or syndromic epilepsy v4.196	8 reviews 6 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 Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen UKGTN Expert Phenotypes Developmental and epileptic encephalopathy 8, OMIM:300607 Tags
Green Green List (high evidence)	ARID1B Early onset or syndromic epilepsy v4.196	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Coffin-Siris syndrome 1, 135900 Tags
Green Green List (high evidence)	ARSA Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Metachromatic leukodystrophy Tags
Green Green List (high evidence)	ARSB Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS 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 Green List (high evidence)	ARSE Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Chondrodysplasia punctata, X-linked recessive 302950 Tags new-gene-name
Green Green List (high evidence)	ARV1 Early onset or syndromic epilepsy v4.196	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 38 617020 Tags
Green Green List (high evidence)	ARX Early onset or syndromic epilepsy v4.196	7 reviews 5 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services UKGTN Radboud University Medical Center, Nijmegen Expert Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 1 308350 Hydranencephaly with abnormal genitalia 300215 Lissencephaly, X-linked 2 300215 Mental retardation, X-linked 29 and others 300419 Partington syndrome 309510 Proud syndrome 300004 Tags
Green Green List (high evidence)	ASAH1 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Phenotypes Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 SMA with myoclonic epilepsy Tags
Green Green List (high evidence)	ASAH1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Spinal muscular atrophy with progressive myoclonic epilepsy 159950, Farber lipogranulomatosis 228000, Fetal hydrops, Intellectual disability Tags
Green Green List (high evidence)	ASH1L Early onset or syndromic epilepsy v4.196	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal dominant 52, OMIM:617796 Tags
Green Green List (high evidence)	ASL Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Argininosuccinic aciduria, OMIM:207900 argininosuccinic aciduria, MONDO:0008815 Tags
Green Green List (high evidence)	ASNS Early onset or syndromic epilepsy v4.196	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Asparagine synthetase deficiency OMIM:615574 Tags
Green Green List (high evidence)	ASPA Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Canavan disease Tags
Green Green List (high evidence)	ASPA Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Canavan disease 271900 Tags
Green Green List (high evidence)	ASS1 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Citrullinaemia type1 (Urea cycle disorders and inherited hyperammonaemias) Citrullinemia Tags
Green Green List (high evidence)	ASXL3 Early onset or syndromic epilepsy v4.196	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Literature Phenotypes Bainbridge-Ropers syndrome, OMIM:615115 Tags
Green Green List (high evidence)	ATAD3A Likely inborn error of metabolism - targeted testing not possible v4.137	5 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Phenotypes Harel-Yoon syndrome, OMIM:617183 Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810 Lactic acidosis Methylglutaconic aciduria Tags
Green Green List (high evidence)	ATIC Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Intellectual disability AICAR transformylase deficiency (Disorders of purine metabolism) Tags
Green Green List (high evidence)	ATN1 Early onset or syndromic epilepsy v4.196	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Expert Review Green Expert Review Green Expert Review Literature Phenotypes Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494 Tags
Green Green List (high evidence)	ATN1_CAG STR Early onset or syndromic epilepsy v4.196	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert Review Phenotypes Dentatorubral-pallidoluysian atrophy, OMIM:125370 Tags STR
Green Green List (high evidence)	ATP13A2 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Kufor-Rakeb syndrome Tags
Green Green List (high evidence)	ATP1A1 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Expert Review Literature Phenotypes Hypomagnesemia Seizures Intellectual disability Tags
Green Green List (high evidence)	ATP1A2 Early onset or syndromic epilepsy v4.196	9 reviews 2 green 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Expert Phenotypes Alternating hemiplegia of childhood 1, 104290 Migraine, familial basilar, 602481 Migraine, familial hemiplegic, 2, 602481 benign familial infantile convulsions epilepsy and migraine occipitotemporal epilepsy infantile epileptic syndrome Tags
Green Green List (high evidence)	ATP1A3 Early onset or syndromic epilepsy v4.196	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services UKGTN Expert Expert Review Green Phenotypes Alternating hemiplegia of childhood 2 Catastrophic epilepsy, unusual apnea spells, and postnatal microcephaly Dystonia-12 CAPOS Syndrome (recurrent mutation) Tags
Green Green List (high evidence)	ATP5A1 Likely inborn error of metabolism - targeted testing not possible v4.137	6 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228 Combined oxidative phosphorylation deficiency 22, OMIM: 616045 Tags new-gene-name
Green Green List (high evidence)	ATP5D Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Phenotypes Mitochondrial complex V (ATP synthase) deficiency, 618120 Tags new-gene-name
Green Green List (high evidence)	ATP5G3 Likely inborn error of metabolism - targeted testing not possible v4.137	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681 Tags new-gene-name
Green Green List (high evidence)	ATP5O Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359 Tags new-gene-name
Green Green List (high evidence)	ATP5O Early onset or syndromic epilepsy v4.196	6 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359 Tags new-gene-name
Green Green List (high evidence)	ATP6AP1 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Immunodeficiency 47 Tags
Green Green List (high evidence)	ATP6V0A1 Early onset or syndromic epilepsy v4.196	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes ATP6V0A1-related developmental disorder (monoallelic) Tags watchlist_moi
Green Green List (high evidence)	ATP6V0A2 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes V0 subunit A2 of vesicular H(+)-ATPase deficiency (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies) Cutis laxa, autosomal recessive, type IIA 21920 Wrinkly skin syndrome 278250 Tags
Green Green List (high evidence)	ATP6V0A2 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Literature Expert Review Green Expert Review Green Literature Phenotypes Cutis laxa, autosomal recessive, type IIA 219200 Wrinkly skin syndrome 278250 Tags
Green Green List (high evidence)	ATP6V1A Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Expert Review Literature Phenotypes Epileptic encephalopathy, infantile or early childhood, 3 618012 Cutis laxa, autosomal recessive, type IID 617403 Tags
Green Green List (high evidence)	ATP7A Early onset or syndromic epilepsy v4.196	4 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Menkes disease 309400 Tags
Green Green List (high evidence)	ATP7A Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources London North GLH NHS GMS Expert Review Green Phenotypes Menkes disease Tags
Green Green List (high evidence)	ATP7B Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Wilson disease Tags
Green Green List (high evidence)	ATP8B1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Cholestasis, progressive familial intrahepatic 1 211600 Cholestasis, benign recurrent intrahepatic 243300 AR Cholestasis, intrahepatic, of pregnancy, 1 147480 AD Byler disease (Disorders of bile acid metabolism and transport) Tags
Green Green List (high evidence)	ATPAF2 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Mitochondrial Diseases Isolated complex V deficiency Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type Tags
Green Green List (high evidence)	ATRX Early onset or syndromic epilepsy v4.196	8 reviews 6 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 Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services UKGTN Expert Phenotypes Alpha-thalassemia/mental retardation syndrome, 301040 Mental retardation-hypotonic facies syndrome, X-linked, 309580 Tags
Green Green List (high evidence)	AUH Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes 3-methylglutaconic aciduria, type I Methylglutaconic aciduria type I (Organic acidurias) Tags
Green Green List (high evidence)	B3GALNT2 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 Tags
Green Green List (high evidence)	B3GALT6 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ehlers-Danlos syndrome, progeroid type, 2 Tags
Green Green List (high evidence)	B3GAT3 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS 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 Green List (high evidence)	B3GLCT Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Peters-plus syndrome 261540 O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Tags
Green Green List (high evidence)	B4GALNT1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 26, autosomal recessive, OMIM:609195 Hereditary spastic paraplegia 26, MONDO:0012213 Tags
Green Green List (high evidence)	B4GALT1 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Congenital disorder of glycosylation, type IId, OMIM:607091 Tags
Green Green List (high evidence)	B4GALT7 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Ehlers-Danlos syndrome with short stature and limb anomalies 130070 B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies, Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Beta-1,4-galactosyltransferase 7 deficiency (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) Tags
Green Green List (high evidence)	BAAT Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hypercholanemia, familial Tags
Green Green List (high evidence)	BAP1 Early onset or syndromic epilepsy v4.196	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Literature Phenotypes Kury-Isidor syndrome, OMIM:619762 Tags
Green Green List (high evidence)	BCAT2 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria) Tags treatable
Green Green List (high evidence)	BCKDHA Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Maple syrup urine disease, type Ia BCKD E1 alpha subunit of deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria) Tags
Green Green List (high evidence)	BCKDHA Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Maple syrup urine disease, type Ia 248600 Tags
Green Green List (high evidence)	BCKDHB Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Maple syrup urine disease, type Ib 248600 Tags
Green Green List (high evidence)	BCKDHB Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Maple syrup urine disease, type Ib BCKD E1 beta subunit of deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria) Tags
Green Green List (high evidence)	BCKDK Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Branched-chain ketoacid dehydrogenase kinase deficiency Tags
Green Green List (high evidence)	BCS1L Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex III deficiency, nuclear type 1 124000 Leigh syndrome 256000 GRACILE syndrome 603358 Tags
Green Green List (high evidence)	BCS1L Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Mitochondrial Diseases Isolated complex III deficiency Mitochondrial Respiratory Chain Complex III Deficiency Mitochondrial complex III deficiency, nuclear type 1, 124000 Leigh syndrome, 256000 Bjornstad syndrome, 262000 GRACILE syndrome, 603358 Tags
Green Green List (high evidence)	BOLA3 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hyperglycinaemia, non-ketotic (Baker (2014) Brain 137,366) Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Multiple mitochondrial dysfunctions syndrome 2, 614299 Multiple Mitochondrial Dysfunctions Syndrome Disorders of iron homeostasis Tags
Green Green List (high evidence)	BOLA3 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia 614299 Tags
Green Green List (high evidence)	BRAF Early onset or syndromic epilepsy v4.196	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiofaciocutaneous syndrome 115150 Noonan syndrome 7 613706 LEOPARD syndrome 3 613707 Tags
Green Green List (high evidence)	BRAT1 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Expert Review Green Expert Review Phenotypes Rigidity and multifocal seizure syndrome, lethal neonatal 614498 Tags
Green Green List (high evidence)	BSCL2 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Literature Expert Review Green Expert Review Green Literature Phenotypes Encephalopathy, progressive, with or without lipodystrophy, OMIM:615924 Tags
Green Green List (high evidence)	BTD Early onset or syndromic epilepsy v4.196	8 reviews 2 green 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Expert Phenotypes Biotinidase deficiency 253260 Tags
Green Green List (high evidence)	BTD Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Biotinidase deficiency (Disorders of biotin metabolism) Biotinidase deficiency lactic acidosis with seizures and eczema,immune deficiency Tags
Green Green List (high evidence)	C12orf57 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Temtamy syndrome 218340 Tags
Green Green List (high evidence)	C12orf65 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 7, OMIM:613559 Spastic paraplegia 55, autosomal recessive, OMIM:615035 Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags new-gene-name
Green Green List (high evidence)	C19orf12 Likely inborn error of metabolism - targeted testing not possible v4.137	7 reviews 1 green 3 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes ?Spastic paraplegia 43, autosomal recessive, OMIM:615043 Neurodegeneration with brain iron accumulation 4, OMIM: 614298 Tags
Green Green List (high evidence)	C19orf70 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 37, 618329 Tags new-gene-name
Green Green List (high evidence)	C1QBP Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Literature Expert list Phenotypes Combined oxidative phosphorylation deficiency 33 617713 Tags
Green Green List (high evidence)	C2orf69 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Combined oxidative phosphorylation deficiency 53, OMIM:619423 Tags gene-checked
Green Green List (high evidence)	CA5A Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes Hyperammonemia due to carbonic anhydrase VA deficiency Hyperammonemia (Urea cycle disorders and inherited hyperammonaemias) Tags
Green Green List (high evidence)	CACNA1A Early onset or syndromic epilepsy v4.196	10 reviews 3 green 4 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Expert Phenotypes Developmental and epileptic encephalopathy 42, OMIM:617106 developmental and epileptic encephalopathy, 42, MONDO:0014917 Episodic ataxia, type 2, OMIM:108500 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500 Tags
Green Green List (high evidence)	CACNA1B Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Literature Phenotypes Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, 618497 Global developmental delay Developmental regression Seizures Intellectual disability Abnormality of movement Progressive Epilepsy-Dyskinesia Tags
Green Green List (high evidence)	CACNA1C Early onset or syndromic epilepsy v4.196	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Expert list Phenotypes Timothy syndrome OMIM:601005 CACNA1C-related disorder Tags
Green Green List (high evidence)	CACNA1D Early onset or syndromic epilepsy v4.196	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Literature Literature Phenotypes Primary aldosteronism, seizures, and neurologic abnormalities 615474 AD Sinoatrial node dysfunction and deafness 614896 AR Tags
Green Green List (high evidence)	CACNA1E Early onset or syndromic epilepsy v4.196	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Literature Expert Review Phenotypes Global developmental delay Intellectual disability Seizures Dystonia Congenital contracture Macrocephaly Tags
Green Green List (high evidence)	CACNA1G Early onset or syndromic epilepsy v4.196	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Literature Literature Phenotypes Spinocerebellar ataxia 42 616795 Tags missense
Green Green List (high evidence)	CACNA1I Early onset or syndromic epilepsy v4.196	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes Neurodevelopmental disorder with speech impairment and with or without seizures, OMIM:620114 Tags
Green Green List (high evidence)	CACNA2D2 Early onset or syndromic epilepsy v4.196	7 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Absence epilepsy Cerebellar atrophy with seizures and variable developmental delay, 618501 Tags
Green Green List (high evidence)	CACNB4 Early onset or syndromic epilepsy v4.196	10 reviews 7 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Expert Phenotypes {Epilepsy, idiopathic generalized, susceptibility to, 9} OMIM:607682 {Epilepsy, juvenile myoclonic, susceptibility to, 6} OMIM:607682 Episodic ataxia, type 5 OMIM:613855 Intellectual disability Tags Q4_23_demote_red Q4_23_expert_review refuted
Green Green List (high evidence)	CAD Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 50, OMIM:616457 Tags
Green Green List (high evidence)	CAPRIN1 Early onset or syndromic epilepsy v4.196	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636 Tags
Green Green List (high evidence)	CARS2 Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) No OMIM phenotype Combined oxidative phosphorylation deficiency 27 616672 Tags
Green Green List (high evidence)	CARS2 Early onset or syndromic epilepsy v4.196	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 27, 616672 Tags
Green Green List (high evidence)	CASK Early onset or syndromic epilepsy v4.196	8 reviews 2 green 4 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Expert Phenotypes Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 Mental retardation, with or without nystagmus 300422 Tags
Green Green List (high evidence)	CAT Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Acatalasaemia (Other peroxisomal disorders) Acatalasemia, 614097 Tags
Green Green List (high evidence)	CBS Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Homocystinuria, B6-responsive and nonresponsive types Tags
Green Green List (high evidence)	CC2D2A Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes COACH syndrome 216360 Joubert syndrome 9 612285 Tags
Green Green List (high evidence)	CCDC115 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIo 616828 Tags
Green Green List (high evidence)	CDK19 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile 87 618916 Tags
Green Green List (high evidence)	CDKL5 Early onset or syndromic epilepsy v4.196	7 reviews 5 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services UKGTN Radboud University Medical Center, Nijmegen Expert Expert Review Green Phenotypes Angelman syndrome-like Epileptic encephalopathy, early infantile, 2 Tags
Green Green List (high evidence)	CELF2 Early onset or syndromic epilepsy v4.196	4 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 97, OMIM:619561 Tags
Green Green List (high evidence)	CEP85L Early onset or syndromic epilepsy v4.196	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Lissencephaly 10, OMIM:618873 Lissencephaly 10, MONDO:0030031 Tags gene-checked
Green Green List (high evidence)	CERS1 Early onset or syndromic epilepsy v4.196	6 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes ?Epilepsy, progressive myoclonic, 8 OMIM:616230 progressive myoclonic epilepsy type 8 MONDO:0014545 Tags
Green Green List (high evidence)	CHCHD10 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 ?Myopathy, isolated mitochondrial, autosomal dominant, 616209 Spinal muscular atrophy, Jokela type Tags
Green Green List (high evidence)	CHD2 Early onset or syndromic epilepsy v4.196	8 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen UKGTN Expert Expert Review Green Phenotypes Epileptic encephalopathy, childhood-onset 615369 Tags
Green Green List (high evidence)	CHD4 Early onset or syndromic epilepsy v4.196	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Literature Phenotypes Sifrim-Hitz-Weiss syndrome, OMIM:617159 Tags
Green Green List (high evidence)	CHD5 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes OMIM:610771 Intellectual disability, MONDO:0001071 Epilepsy, MONDO:0005027 Tags
Green Green List (high evidence)	CHKA Early onset or syndromic epilepsy v4.196	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Abnormal muscle tone Global developmental delay Intellectual disability Seizures Microcephaly Abnormality of movement Abnormality of nervous system morphology Short stature Tags
Green Green List (high evidence)	CHKB Likely inborn error of metabolism - targeted testing not possible v4.137	6 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Choline kinase deficiency (Disorders of complex lipid synthesis) Muscular dystrophy, congenital, megaconial type, 602541 Tags
Green Green List (high evidence)	CHRNA2 Early onset or syndromic epilepsy v4.196	9 reviews 5 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Expert Review Green Expert Phenotypes Epilepsy, nocturnal frontal lobe, type 4 Tags
Green Green List (high evidence)	CHRNA4 Early onset or syndromic epilepsy v4.196	9 reviews 5 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Expert Review Green UKGTN Expert Phenotypes Epilepsy, nocturnal frontal lobe, 1 600513 Tags
Green Green List (high evidence)	CHRNB2 Early onset or syndromic epilepsy v4.196	10 reviews 5 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Expert Review Green UKGTN Expert Phenotypes Epilepsy, nocturnal frontal lobe, 3 605375 Tags
Green Green List (high evidence)	CHST14 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1 601776 CHST14-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Tags
Green Green List (high evidence)	CHST3 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations 143095 CHST3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Tags
Green Green List (high evidence)	CHST6 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes CHST6-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Macular corneal dystrophy 217800 Tags
Green Green List (high evidence)	CHSY1 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Temtamy preaxial brachydactyly syndrome 605282 CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Tags
Green Green List (high evidence)	CIC Early onset or syndromic epilepsy v4.196	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Literature Expert Review Green Expert Review Green Literature Phenotypes Mental retardation, autosomal dominant 45 617600 Tags
Green Green List (high evidence)	CISD2 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH NHS GMS Phenotypes Wolfram syndrome 2 604928 Tags
Green Green List (high evidence)	CLCN3 Early onset or syndromic epilepsy v4.196	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512 Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517 Tags
Green Green List (high evidence)	CLCN4 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Raynaud-Claes syndrome, OMIM:300114 Tags
Green Green List (high evidence)	CLDN16 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hypomagnesemia 3, renal 248250 Tags
Green Green List (high evidence)	CLDN19 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hypomagnesemia 5, renal, with ocular involvement 248190 Tags
Green Green List (high evidence)	CLDN5 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes epilepsy, MONDO:0005027 Tags gene-checked
Green Green List (high evidence)	CLN3 Early onset or syndromic epilepsy v4.196	8 reviews 2 green 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Expert Phenotypes Ceroid lipofuscinosis, neuronal, 3 204200 Tags
Green Green List (high evidence)	CLN3 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 3, 204200 Tags
Green Green List (high evidence)	CLN5 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 5 OMIM:256731 neuronal ceroid lipofuscinosis 5 MONDO:0009745 Tags
Green Green List (high evidence)	CLN6 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 6, 601780 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 Tags
Green Green List (high evidence)	CLN8 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 8 Tags
Green Green List (high evidence)	CLN8 Early onset or syndromic epilepsy v4.196	7 reviews 1 green 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Expert Review Green Expert Phenotypes Ceroid lipofuscinosis, neuronal, 8 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003 Tags
Green Green List (high evidence)	CLPB Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271 3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM:619835 Neutropenia, severe congenital, 9, autosomal dominant, OMIM:619813 Tags
Green Green List (high evidence)	CLPB Likely inborn error of metabolism - targeted testing not possible v4.137	5 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271 3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM: 619835 Neutropenia, severe congenital, 9, autosomal dominant, OMIM: 619813 Tags
Green Green List (high evidence)	CLPP Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Perrault syndrome 3, 614129 Tags
Green Green List (high evidence)	CLTC Early onset or syndromic epilepsy v4.196	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Other Expert Review Green Expert Review Green Other Phenotypes Mental retardation, autosomal dominant 56, OMIM:617854 Tags
Green Green List (high evidence)	CNKSR2 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Expert Review Green Expert Review Phenotypes Intellectual developmental disorder, X-linked, syndromic, Houge type, OMIM:301008 intellectual disability, X-linked, syndromic, Houge type, MONDO:0030909 Tags
Green Green List (high evidence)	CNNM2 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Expert Review Phenotypes Hypomagnesemia, seizures, and mental retardation, OMIM:616418 Hypomagnesemia, seizures, and mental retardation, MONDO:0014631 Tags
Green Green List (high evidence)	CNNM2 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hypomagnesaemia type 6, renal (Disorder of magnesium metabolism) Hypomagnesemia 6, renal 613882 Hypomagnesemia, seizures, and mental retardation 616418 Tags
Green Green List (high evidence)	CNPY3 Early onset or syndromic epilepsy v4.196	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 60 617929 Tags
Green Green List (high evidence)	CNTNAP2 Early onset or syndromic epilepsy v4.196	8 reviews 5 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services UKGTN Expert Expert Review Green Phenotypes Cortical dysplasia-focal epilepsy syndrome Pitt-Hopkins like syndrome 1 Tags
Green Green List (high evidence)	COA6 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 13, OMIM:616501 Tags
Green Green List (high evidence)	COA7 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770 Tags
Green Green List (high evidence)	COG1 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Component of COG complex 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) Congenital disorder of glycosylation, type IIg 611209 Tags
Green Green List (high evidence)	COG4 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Component of COG complex 4 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) Congenital disorder of glycosylation, type IIj 613489 Tags
Green Green List (high evidence)	COG5 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIi 613612 Component of COG complex 5 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) Tags
Green Green List (high evidence)	COG6 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Component of COG complex 6 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) Shaheen syndrome 615328 Congenital disorder of glycosylation, type IIl 614576 Tags
Green Green List (high evidence)	COG7 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIe, 608779 Tags
Green Green List (high evidence)	COG7 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Component of COG complex 7 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) Congenital disorder of glycosylation, type IIe 608779 Tags
Green Green List (high evidence)	COG8 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIh 611182 Component of COG complex 8 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) Tags
Green Green List (high evidence)	COL18A1 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Knobloch syndrome, type 1, OMIM:267750 Tags
Green Green List (high evidence)	COL4A1 Early onset or syndromic epilepsy v4.196	8 reviews 2 green 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Expert Phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773 Brain small vessel disease with or without ocular anomalies 607595 Porencephaly 1 175780 Schizencephaly 269160 Tags
Green Green List (high evidence)	COL4A2 Early onset or syndromic epilepsy v4.196	8 reviews 2 green 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Expert Phenotypes Porencephaly 2 614483 Tags
Green Green List (high evidence)	COQ2 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 1, OMIM:607426 Tags
Green Green List (high evidence)	COQ2 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 1, OMIM:607426 Tags
Green Green List (high evidence)	COQ4 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 7, OMIM:616276 Tags
Green Green List (high evidence)	COQ4 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 7 616276 Tags
Green Green List (high evidence)	COQ6 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 6, 614650 Steroid-resistant nephrotic syndrome Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of ubiquinone metabolism and biosynthesis Tags
Green Green List (high evidence)	COQ7 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes ?Coenzyme Q10 deficiency, primary, 8 616733 Tags
Green Green List (high evidence)	COQ8A Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Coenzyme Q10 deficiency Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of ubiquinone metabolism and biosynthesis Coenzyme Q10 deficiency, primary, 4, 612016 Tags
Green Green List (high evidence)	COQ8B Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Nephrotic syndrome, type 9 Tags
Green Green List (high evidence)	COQ9 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 5, 614654 Tags
Green Green List (high evidence)	COQ9 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 5, 614654 Coenzyme Q10 deficiency Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of ubiquinone metabolism and biosynthesis Tags
Green Green List (high evidence)	COX10 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome coxidase deficiency Tags
Green Green List (high evidence)	COX14 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex IV deficiency, 220110 Isolated complex IV deficiency Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Tags
Green Green List (high evidence)	COX15 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119 Tags
Green Green List (high evidence)	COX20 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex IV deficiency, 220110 Isolated complex IV deficiency Complex IV Mitochondrial respiratory chain disorders caused by nuclear variants only OXPHOS assembly factors Tags
Green Green List (high evidence)	COX6A1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Charcot-Marie-Tooth disease, recessive intermediate D, 616039 Tags
Green Green List (high evidence)	COX6B1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051 Tags
Green Green List (high evidence)	COX7B Likely inborn error of metabolism - targeted testing not possible v4.137	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 London North GLH NHS GMS Expert Review Green Phenotypes Isolated complex IV deficiency Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Linear skin defects with multiple congenital anomalies Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies, 300887 MICROPHTHALMIA WITH LINEAR SKIN LESIONS Tags
Green Green List (high evidence)	CP Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Cerebellar ataxia, 604290 Hemosiderosis, systemic, due to aceruloplasminemia, 604290 Tags
Green Green List (high evidence)	CPLX1 Early onset or syndromic epilepsy v4.196	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Developmental and epileptic encephalopathy 63, OMIM:617976 developmental and epileptic encephalopathy, 63, MONDO:0033372 Tags
Green Green List (high evidence)	CPOX Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Harderoporphyria 121300 Coproporphyria 121300 Hereditary coproporphyria (Acute neuropathic porphyrias) Tags
Green Green List (high evidence)	CPS1 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Carbamoylphosphate synthetase I deficiency Carbamoylphosphate synthetase I deficiency (Urea cycle disorders and inherited hyperammonaemias) Tags
Green Green List (high evidence)	CPT1A Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes Carnitine palmitoyltransferase I (CPTI) deficiency (Disorders of carnitine transport and the carnitine cycle) CPT deficiency, hepatic, type IA Tags
Green Green List (high evidence)	CPT2 Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes CPT II deficiency, infantile, OMIM:600649 CPT II deficiency, lethal neonatal, OMIM:608836 CPT II deficiency, myopathic, stress-induced, OMIM:255110 Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle) Tags
Green Green List (high evidence)	CREBBP Early onset or syndromic epilepsy v4.196	4 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Expert list Phenotypes Rubinstein-Taybi syndrome 1 180849 Tags
Green Green List (high evidence)	CRLS1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Combined oxidative phosphorylation deficiency 57, OMIM:620167 Tags
Green Green List (high evidence)	CSGALNACT1 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Congenital disorder of glycosylation Skeletal dysplasia, mild, with joint laxity and advanced bone age OMIM:618870 skeletal dysplasia, mild, with joint laxity and advanced bone age MONDO:0030029 Tags
Green Green List (high evidence)	CSNK2B Early onset or syndromic epilepsy v4.196	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Poirier-Bienvenu neurodevelopmental syndrome, OMIM:618732 Poirier-Bienvenu neurodevelopmental syndrome, MONDO:0032889 Tags
Green Green List (high evidence)	CSTB Early onset or syndromic epilepsy v4.196	9 reviews 3 green 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Expert Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 Tags nucleotide-repeat-expansion
Green Green List (high evidence)	CSTB_CCCCGCCCCGCG STR Early onset or syndromic epilepsy v4.196	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 Tags STR
Green Green List (high evidence)	CTH Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Cystathioninuria, 219500 Tags
Green Green List (high evidence)	CTNNA2 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Literature Phenotypes Cortical dysplasia, complex, with other brain malformations 9, OMIM:618174 Tags
Green Green List (high evidence)	CTNS Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Cystinosis, atypical nephropathic Tags
Green Green List (high evidence)	CTSA Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Galactosialidosis Tags
Green Green List (high evidence)	CTSC Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Haim-Munk syndrome 245010 Papillon-Lefevre syndrome 245000 Periodontitis 1, juvenile 170650 Tags
Green Green List (high evidence)	CTSD Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 10, 610127 Tags
Green Green List (high evidence)	CTSD Early onset or syndromic epilepsy v4.196	7 reviews 2 green 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Expert Phenotypes Ceroid lipofuscinosis, neuronal, 10, 610127 Tags
Green Green List (high evidence)	CTSK Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Pycnodysostosis Tags
Green Green List (high evidence)	CUBN Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Intrinsic factor receptor deficiency due to CUBN mutations (Disorders of cobalamin absorption, transport and metabolism) Megaloblastic anemia-1, Finnish type Proteinuric renal disease Unexplained kidney failure in young people Tags
Green Green List (high evidence)	CUL3 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Literature Phenotypes Neurodevelopmental disorder with or without autism or seizures, OMIM:619239 Tags
Green Green List (high evidence)	CUL4B Early onset or syndromic epilepsy v4.196	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Wessex and West Midlands GLH Literature NHS GMS Phenotypes Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 seizures Tags
Green Green List (high evidence)	CUX2 Early onset or syndromic epilepsy v4.196	6 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 67, OMIM:618141 Infantile onset myoclonic epileptic encephalopathy Tags
Green Green List (high evidence)	CYC1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Isolated complex III deficiency Mitochondrial complex III deficiency, nuclear type 6, 615453 Tags
Green Green List (high evidence)	CYFIP2 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Literature Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 65, 618008 Tags
Green Green List (high evidence)	CYP27A1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Cerebrotendinous xanthomatosis, 213700 Tags
Green Green List (high evidence)	CYP7B1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Bile acid synthesis defect, congenital, 3 613812 Spastic paraplegia 5A, autosomal recessive 270800 Tags treatable
Green Green List (high evidence)	D2HGDH Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes D-2-hydroxyglutaric aciduria Tags
Green Green List (high evidence)	D2HGDH Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes D-2-hydroxyglutaric aciduria, 600721 generalized tonic-clonic seizures absence seizures tonic seizures tonic-clonic seizures myoclonic seizures Tags
Green Green List (high evidence)	DARS Likely inborn error of metabolism - targeted testing not possible v4.137	7 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity Tags new-gene-name
Green Green List (high evidence)	DARS2 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green Green List (high evidence)	DBH Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Dopamine beta-hydroxylase deficiency Tags
Green Green List (high evidence)	DBT Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Dihydrolipoamide branched chain transacylase deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria) Maple syrup urine disease, type II Tags
Green Green List (high evidence)	DBT Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Maple syrup urine disease, type II, 248600 seizures convulsions Tags
Green Green List (high evidence)	DCX Early onset or syndromic epilepsy v4.196	4 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Lissencephaly, X-linked, OMIM:300067 Subcortical laminal heterotopia, X-linked, OMIM:300067 Tags
Green Green List (high evidence)	DCXR Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes [Pentosuria] 260800 Tags
Green Green List (high evidence)	DDC Early onset or syndromic epilepsy v4.196	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Aromatic L-amino acid decarboxylase deficiency, OMIM:608643 Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084 Tags
Green Green List (high evidence)	DDC Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Aromatic L-amino acid decarboxylase deficiency, OMIM:608643 Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084 Tags
Green Green List (high evidence)	DDX3X Early onset or syndromic epilepsy v4.196	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, OMIM:300958 Tags
Green Green List (high evidence)	DEAF1 Early onset or syndromic epilepsy v4.196	7 reviews 3 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Literature Phenotypes ?Dyskinesia, seizures, and intellectual developmental disorder, 617171 Tags
Green Green List (high evidence)	DEGS1 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Literature Phenotypes Leukodystrophy hypomyelinating 18, 618404 seizures Tags
Green Green List (high evidence)	DENND5A Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 49, 617281 Tags
Green Green List (high evidence)	DEPDC5 Early onset or syndromic epilepsy v4.196	10 reviews 4 green 4 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Expert Review Green Expert Phenotypes Epilepsy, familial focal, with variable foci 1, OMIM:604364 Tags
Green Green List (high evidence)	DGUOK Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Deoxyguanosine kinase deficiency (Disorders of purine metabolism) Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 Mitochondrial DNA Depletion Syndrome Disorders of mitochondrial DNA maintenance and integrity Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green Green List (high evidence)	DHCR24 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Desmosterolosis 602398 Tags
Green Green List (high evidence)	DHCR7 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability IUGR and IGF abnormalities Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis) Disorders of sex development Cataracts Tags
Green Green List (high evidence)	DHDDS Early onset or syndromic epilepsy v4.196	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Literature Phenotypes Developmental delay and seizures with or without movement abnormalities, OMIM:617836 Tags
Green Green List (high evidence)	DHFR Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Dihydrofolate reductase deficiency (Disorders of folate metabolism and transport) Megaloblastic anemia due to dihydrofolate reductase deficiency Tags
Green Green List (high evidence)	DHODH Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Miller syndrome 263750 Tags
Green Green List (high evidence)	DHPS Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Expert Review Green Expert Review Green Expert Review Literature Phenotypes Abnormality of head or neck Seizures EEG abnormality Behavioral abnormality Abnormal muscle tone Intellectual disability Global developmental delay Tags
Green Green List (high evidence)	DHTKD1 Likely inborn error of metabolism - targeted testing not possible v4.137	7 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes 2-Oxoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism) 2-Aminoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism) 2-aminoadipic and 2-oxoadipic aciduria, 204750 Tags
Green Green List (high evidence)	DHX30 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Expert Review Phenotypes Neurodevelopmental disorder with severe motor impairment and absent language 617804 Tags
Green Green List (high evidence)	DIAPH1 Early onset or syndromic epilepsy v4.196	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Other Expert Review Green Phenotypes Seizures, cortical blindness, microcephaly syndrome, MIM:616632 Tags
Green Green List (high evidence)	DLAT Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Dihydrolipoyl transacetylase deficiency (Disorders of pyruvate metabolism) Pyruvate dehydrogenase E2 deficiency, 245348 Tags
Green Green List (high evidence)	DLD Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Dihydrolipoyl dehydrogenase deficiency (Disorders of pyruvate metabolism) Leigh syndrome Dihydrolipoamide dehydrogenase deficiency, 246900 Tags
Green Green List (high evidence)	DLL1 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, OMIM:618709 Tags
Green Green List (high evidence)	DMPK_CTG STR Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Expert list Phenotypes Myotonic dystrophy 1, OMIM:160900 Tags STR
Green Green List (high evidence)	DMXL2 Early onset or syndromic epilepsy v4.196	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 81, MIM 618663 Ohtahara syndrome Tags
Green Green List (high evidence)	DNA2 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 615156 Disorders of mitochondrial DNA maintenance and integrity Tags
Green Green List (high evidence)	DNAJC12 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 Tags
Green Green List (high evidence)	DNAJC19 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Expert Review Green Phenotypes 3-methylglutaconic aciduria, type V, 610198 Disorders of the mitochondrial import system 3-methylglutaconic aciduria, type V Tags
Green Green List (high evidence)	DNAJC5 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350 Tags
Green Green List (high evidence)	DNM1 Early onset or syndromic epilepsy v4.196	8 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Expert Review Phenotypes Developmental and epileptic encephalopathy 31, OMIM:616346 Tags watchlist_moi
Green Green List (high evidence)	DNM1L Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 refractory epilepsy refractory focal status epilepticus Tags
Green Green List (high evidence)	DNM1L Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388 Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green Green List (high evidence)	DNM2 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Centronuclear myopathy 1 160150 Charcot-Marie-Tooth disease, axonal type 2M 606482 Charcot-Marie-Tooth disease, dominant intermediate B 606482 Tags
Green Green List (high evidence)	DOCK7 Early onset or syndromic epilepsy v4.196	7 reviews 5 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Expert Review Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 EIEE23 Tags
Green Green List (high evidence)	DOLK Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Congenital disorder of glycosylation, type Im 610768 Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) Tags
Green Green List (high evidence)	DOLK Early onset or syndromic epilepsy v4.196	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Im, OMIM:610768 DK1-congenital disorder of glycosylation, MONDO:0012556 Tags
Green Green List (high evidence)	DPAGT1 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Myasthenic syndrome, congenital, 13, with tubular aggregates 614750 UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type Ij 608093 Tags
Green Green List (high evidence)	DPAGT1 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ij, 608093 Tags
Green Green List (high evidence)	DPH5 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties, OMIM:620070 Tags
Green Green List (high evidence)	DPM1 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ie, OMIM:608799 Tags
Green Green List (high evidence)	DPM1 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ie, OMIM:608799 GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) Tags
Green Green List (high evidence)	DPM2 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type Iu, OMIM:615042 Tags
Green Green List (high evidence)	DPM3 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937 Tags
Green Green List (high evidence)	DPYD Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Expert Review Green Phenotypes 5-fluorouracil toxicity 274270 Dihydropyrimidine dehydrogenase deficiency 274270 Tags
Green Green List (high evidence)	DPYD Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Dihydropyrimidine dehydrogenase deficiency 274270 Dihydropyrimidine dehydrogenase deficiency (Disorders of pyrimidine metabolism) Tags
Green Green List (high evidence)	DPYS Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Dihydropyrimidinuria, OMIM:222748 Dihydropyrimidinase deficiency (Disorders of pyrimidine metabolism) Tags
Green Green List (high evidence)	DROSHA Early onset or syndromic epilepsy v4.196	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Literature Phenotypes Global developmental delay Intellectual disability Seizures Cerebral white matter atrophy Abnormality of the corpus callosum Abnormality of movement Stereotypic behavior Abnormality of head or neck Short foot Tags gene-checked locus-type-rna-micro
Green Green List (high evidence)	DTYMK Early onset or syndromic epilepsy v4.196	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Global developmental delay Intellectual disability Microcephaly Seizures Global brain atrophy Cardiorespiratory arrest Tags
Green Green List (high evidence)	DYM Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388 Dyggve-Melchior-Clausen disease, 223800 Smith-McCort dysplasia, 607326 Tags
Green Green List (high evidence)	DYNC1H1 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 13, 614563 malformations of cortical development (MCD) Lennox Gastaut Early-onset epilepsy Late-onset epilepsy Focal seizures Tags
Green Green List (high evidence)	DYRK1A Early onset or syndromic epilepsy v4.196	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Expert Review Expert Review Green Phenotypes MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7 Tags
Green Green List (high evidence)	EARS2 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 12, 614924 Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Green Green List (high evidence)	EARS2 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 12, 614924 Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) Drug-refractory seizures Epilepsy Tags
Green Green List (high evidence)	EBP Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources London North GLH NHS GMS Expert Review Green Phenotypes MEND syndrome 300960 XLR Chondrodysplasia punctata, X-linked dominant 302960 XLD X-linked dominant chondrodysplasia punctata 2 (Disorders of sterol biosynthesis) Tags
Green Green List (high evidence)	ECHS1 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277 Tags
Green Green List (high evidence)	EEF1A2 Early onset or syndromic epilepsy v4.196	9 reviews 1 green 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Phenotypes Epileptic encephalopathy, early infantile, 33 616409 Tags
Green Green List (high evidence)	EFTUD2 Early onset or syndromic epilepsy v4.196	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Literature Phenotypes Mandibulofacial dysostosis, Guion-Almeida type 610536 Tags
Green Green List (high evidence)	EHBP1L1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes non-immune hydrops fetalis MONDO:0009369 Tags gene-checked
Green Green List (high evidence)	EHMT1 Early onset or syndromic epilepsy v4.196	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services UKGTN Expert Review Green Phenotypes Kleefstra syndrome Tags
Green Green List (high evidence)	EIF2B1 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Tags
Green Green List (high evidence)	EIF2B2 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Tags
Green Green List (high evidence)	EIF2B3 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Tags
Green Green List (high evidence)	EIF2B4 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Tags
Green Green List (high evidence)	EIF2B5 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with vanishing white matter 603896 Ovarioleukodystrophy 603896 Tags
Green Green List (high evidence)	EIF2S3 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes MEHMO syndrome, 300148 Tags
Green Green List (high evidence)	EIF3F Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Expert Review Literature Phenotypes Mental retardation, autosomal recessive 67, OMIM:618295 Tags
Green Green List (high evidence)	ELAC2 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes infantile hypertrophic cardiomyopathy, lactic acidosis, and isolated complex I deficiency Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Combined oxidative phosphorylation deficiency 17, 615440 Tags
Green Green List (high evidence)	EMC10 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Neurodevelopmental disorder with dysmorphic facies and variable seizures, OMIM:619264 Tags
Green Green List (high evidence)	EML1 Early onset or syndromic epilepsy v4.196	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Literature Expert Review Green Phenotypes Band heterotopia, OMIM:600348 Tags
Green Green List (high evidence)	ENO3 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes ?Glycogen storage disease XIII Tags
Green Green List (high evidence)	ENTPD1 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Spastic paraplegia 64, autosomal recessive, OMIM:615683 Tags
Green Green List (high evidence)	EOGT Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Adams-Oliver syndrome 4 OMIM:615297 Adams-Oliver syndrome 4 MONDO:0014124 Tags
Green Green List (high evidence)	EPG5 Early onset or syndromic epilepsy v4.196	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Expert Review Expert Review Green Phenotypes Vici syndrome, 242840 IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM Tags
Green Green List (high evidence)	EPG5 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Vici syndrome, 242840 IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM Tags
Green Green List (high evidence)	EPM2A Early onset or syndromic epilepsy v4.196	7 reviews 1 green 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Expert Review Green Expert Phenotypes Epilepsy, progressive myoclonic 2A (Lafora) 254780 Tags
Green Green List (high evidence)	EPM2A Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Epilepsy, progressive myoclonic 2A (Lafora) Tags
Green Green List (high evidence)	ETFA Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes Glutaric acidemia IIA, OMIM:231680 multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 Tags
Green Green List (high evidence)	ETFB Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes Glutaric acidemia IIB, OMIM:231680 multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 Tags
Green Green List (high evidence)	ETFDH Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) GLUTARIC ACIDURIA TYPE 2C Glutaric acidemia IIC Disorders of ubiquinone metabolism and biosynthesis ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation) Tags
Green Green List (high evidence)	ETHE1 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Ethylmalonic encephalopathy, 602473 Tags
Green Green List (high evidence)	ETHE1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Ethylmalonic encephalopathy, 602473 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Isolated complex IV deficiency Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Ethylmalonic encephalopathy Tags
Green Green List (high evidence)	EXOSC3 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 1B, OMIM:614678 Tags
Green Green List (high evidence)	EXT1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London North GLH NHS GMS Expert Review Green Phenotypes Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) Exostoses, multiple, type 1 133700 Tags
Green Green List (high evidence)	EXT2 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) Exostoses, multiple, type 2 133701 ?Seizures, scoliosis, and macrocephaly syndrome 616682 Tags
Green Green List (high evidence)	EXT2 Early onset or syndromic epilepsy v4.196	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Seizures, scoliosis, and macrocephaly syndrome, OMIM:616682 seizures-scoliosis-macrocephaly syndrome, MONDO:0014731 Tags
Green Green List (high evidence)	FA2H Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list London North GLH NHS GMS Expert Review Green Phenotypes Fatty acid 2-hydroxylase deficiency (Disorders of complex lipid synthesis) Early onset dystonia Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism) Hereditary spastic paraplegia Tags
Green Green List (high evidence)	FAH Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Tyrosinemia, type I Tags
Green Green List (high evidence)	FAR1 Early onset or syndromic epilepsy v4.196	6 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Expert Review Phenotypes Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154 fatty acyl-CoA reductase 1 deficiency, MONDO:0014510 Tags
Green Green List (high evidence)	FARS2 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Combined oxidative phosphorylation deficiency 14, 614946 Tags
Green Green List (high evidence)	FARS2 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 14, 614946 Tags
Green Green List (high evidence)	FASTKD2 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 44, OMIM:618855 Tags
Green Green List (high evidence)	FASTKD2 Early onset or syndromic epilepsy v4.196	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 44, OMIM:618855 Tags
Green Green List (high evidence)	FBP1 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycogen Storage Disease Glycogen Storage Disorders- Liver Fructose-1,6-bisphosphatase deficiency (Disorders of gluconeogenesis) Tags
Green Green List (high evidence)	FBXL4 Early onset or syndromic epilepsy v4.196	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471 mitochondrial DNA depletion syndrome 13 MONDO:0014198 Tags
Green Green List (high evidence)	FBXL4 Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471 mitochondrial DNA depletion syndrome 13 MONDO:0014198 Tags
Green Green List (high evidence)	FBXO11 Early onset or syndromic epilepsy v4.196	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Literature Phenotypes Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 618089 Tags
Green Green List (high evidence)	FBXO28 Early onset or syndromic epilepsy v4.196	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 100, OMIM:619777 developmental and epileptic encephalopathy 100, MONDO:0030695 Tags
Green Green List (high evidence)	FDX2 Likely inborn error of metabolism - targeted testing not possible v4.137	6 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900 mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714 Tags
Green Green List (high evidence)	FDXR Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Expert list Phenotypes Auditory neuropathy and optic atrophy 617717 Tags
Green Green List (high evidence)	FECH Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Protoporphyria, erythropoietic, 1 177000 Tags
Green Green List (high evidence)	FGF12 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 47, 617166 Tags
Green Green List (high evidence)	FGF13 Early onset or syndromic epilepsy v4.196	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy Intellectual disability Infantile-onset seizures Tags
Green Green List (high evidence)	FGFR2 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Phenotypes Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410 Apert syndrome 101200 Beare-Stevenson cutis gyrata syndrome 123790 Bent bone dysplasia syndrome 614592 Craniofacial-skeletal-dermatologic dysplasia 101600 Craniosynostosis, nonspecific Crouzon syndrome 123500 Gastric cancer, somatic 613659 Jackson-Weiss syndrome 123150 LADD syndrome 149730 Pfeiffer syndrome 101600 Saethre-Chotzen syndrome 101400 Scaphocephaly and Axenfeld-Rieger anomaly Scaphocephaly, maxillary retrusion, and mental retardation 609579 Tags
Green Green List (high evidence)	FGFR3 Early onset or syndromic epilepsy v4.196	6 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Hypochondroplasia, OMIM:146000 hypochondroplasia, MONDO:0007793 Tags
Green Green List (high evidence)	FH Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Fumarase deficiency, OMIM:606812 Disorders of the citric acid cycle Tags
Green Green List (high evidence)	FKRP Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612 Fukutin-related protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153 Tags
Green Green List (high evidence)	FKTN Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588 Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Tags
Green Green List (high evidence)	FKTN Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 seizures Walker-warburg syndrome or muscle-eye-brain disease Fukuyama congenital muscular dystrophy Tags
Green Green List (high evidence)	FLAD1 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Multiple acyl-CoA dehydrogenase deficiencies (MADDs) Tags
Green Green List (high evidence)	FLNA Early onset or syndromic epilepsy v4.196	6 reviews 3 green 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources North West GLH Expert Review Green Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Heterotopia, periventricular OMIM:300049 Tags
Green Green List (high evidence)	FMO3 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Trimethylaminuria (Disorders and variants of enzymes that oxidise xenobiotics other than cytochrome P450) Tags
Green Green List (high evidence)	FOLR1 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS 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 Green List (high evidence)	FOLR1 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodegeneration due to cerebral folate transport deficiency, 613068 seizures Tags
Green Green List (high evidence)	FOXG1 Early onset or syndromic epilepsy v4.196	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Expert Expert Review Green UKGTN Phenotypes Rett syndrome, congenital variantRett Syndrome, congenital variant OMIM:613454 Rett syndrome, congenital variant MONDO:0013270 Tags
Green Green List (high evidence)	FOXRED1 Early onset or syndromic epilepsy v4.196	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 19, OMIM:618241 mitochondrial complex 1 deficiency, nuclear type 19, MONDO:0032624 Tags
Green Green List (high evidence)	FOXRED1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial Diseases Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010 Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	FRMD5 Early onset or syndromic epilepsy v4.196	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodevelopmental disorder with eye movement abnormalities and ataxia, OMIM:620094 Tags
Green Green List (high evidence)	FRRS1L Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile 37, 616981 Tags
Green Green List (high evidence)	FTCD Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glutamate formiminotransferase deficiency 229100 Tags
Green Green List (high evidence)	FUCA1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Fucosidosis, 230000 Tags
Green Green List (high evidence)	FUCA1 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Fucosidosis, 230000 seizures Tags
Green Green List (high evidence)	FUT8 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Phenotypes Congenital disorder of glycosylation with defective fucosylation, 618005 Tags
Green Green List (high evidence)	FUT8 Early onset or syndromic epilepsy v4.196	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Expert Review Literature Phenotypes Congenital disorder of glycosylation with defective fucosylation, 618005 seizures Tags
Green Green List (high evidence)	FXN Likely inborn error of metabolism - targeted testing not possible v4.137	7 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Friedreich ataxia OMIM:229300 Friedreich ataxia with retained reflexes OMIM:229300 Friedreich ataxia 1 MONDO:0100340 Tags nucleotide-repeat-expansion
Green Green List (high evidence)	FXN_GAA STR Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Friedreich ataxia OMIM:229300 Friedreich ataxia with retained reflexes OMIM:229300 Friedreich ataxia 1 MONDO:0100340 Tags STR
Green Green List (high evidence)	G6PC Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycogen storage disease Ia, OMIM:232200 Tags new-gene-name
Green Green List (high evidence)	G6PC3 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Dursun syndrome Tags
Green Green List (high evidence)	GAA Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycogen storage disease II, 232300 Tags
Green Green List (high evidence)	GABBR2 Early onset or syndromic epilepsy v4.196	7 reviews 1 green 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Expert Review Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY Rett syndrome Epileptic encephalopathy, early infantile, 59, 617904 Tags
Green Green List (high evidence)	GABRA1 Early onset or syndromic epilepsy v4.196	8 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Expert Expert Review Green Phenotypes {Epilepsy, childhood absence, susceptibility to, 4} 611136 {Epilepsy, juvenile myoclonic, susceptibility to, 5} 611136 Tags
Green Green List (high evidence)	GABRA2 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 78, 618557 Tags missense
Green Green List (high evidence)	GABRA5 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 79, 618559 Tags missense
Green Green List (high evidence)	GABRB1 Early onset or syndromic epilepsy v4.196	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Epileptic encephalopathy, early infantile, 45, OMIM:617153 developmental and epileptic encephalopathy, 45, MONDO:0014942 Tags
Green Green List (high evidence)	GABRB2 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, infantile or early childhood, 2, 617829 Tags
Green Green List (high evidence)	GABRB3 Early onset or syndromic epilepsy v4.196	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Expert Expert Review Green UKGTN Phenotypes Epilepsy, childhood absence, susceptibility to, 5 EPILEPTIC ENCEPHALOPATHIES Tags
Green Green List (high evidence)	GABRD Early onset or syndromic epilepsy v4.196	10 reviews 1 green 6 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Expert Phenotypes {Epilepsy, idiopathic generalized, 10}, OMIM:613060 {Epilepsy, juvenile myoclonic, susceptibility to}, OMIM:613060 {Generalized epilepsy with febrile seizures plus, type 5, susceptibility to}, OMIM:613060 Tags
Green Green List (high evidence)	GABRG2 Early onset or syndromic epilepsy v4.196	10 reviews 1 green 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Expert Review Green Expert Phenotypes Epilepsy, generalized, with febrile seizures plus, type 3 611277 Febrile seizures, familial, 8 611277 {Epilepsy, childhood absence, susceptibility to, 2} 607681 Tags
Green Green List (high evidence)	GABRG2 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Febrile seizures, familial, 8 611277 Epilepsy, generalized, with febrile seizures plus, type 3 611277 {Epilepsy, childhood absence, susceptibility to, 2} 607681 Tags
Green Green List (high evidence)	GAD1 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes ?Cerebral palsy, spastic quadriplegic, 1 603513 Developmental and epileptic encephalopathies, cleft palate, joint contractures and/or omphalocele Tags
Green Green List (high evidence)	GALC Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Krabbe disease, OMIM:245200 Tags
Green Green List (high evidence)	GALC Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Krabbe disease, OMIM:245200 Tags
Green Green List (high evidence)	GALE Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Intellectual disability Uridine diphosphate galactose-4-epimerase deficiency (Disorders of galactose metabolism) Galactose epimerase deficiency, OMIM:230350 MONDO:0009257 Tags
Green Green List (high evidence)	GALK1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Galactokinase deficiency with cataracts, 230200 Tags
Green Green List (high evidence)	GALM Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Phenotypes Galactosemia IV, OMIM:618881 MONDO:0030105 Tags
Green Green List (high evidence)	GALNS Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 4A Mucopolysaccharidosis Type IVA Mucopolysaccharidosis IVA, 253000 Mucopolysaccharidosis, Type IV MPS IVA, Morquio A disease (MPS IV, Morquio disease) Tags
Green Green List (high evidence)	GALNT2 Early onset or syndromic epilepsy v4.196	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type IIt OMIM:618885 Tags
Green Green List (high evidence)	GALNT2 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type IIt 618885 Tags
Green Green List (high evidence)	GALNT3 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Polypeptide N-acetylgalactosaminyl transferase deficiency (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies) Tumoral calcinosis, hyperphosphatemic, familial 211900 Tags
Green Green List (high evidence)	GALT Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Intellectual disability Classical galactosaemia (Disorders of galactose metabolism) Galactosemia Cataracts Tags
Green Green List (high evidence)	GAMT Early onset or syndromic epilepsy v4.196	8 reviews 2 green 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Expert Phenotypes Cerebral creatine deficiency syndrome 2, 612736 Seizures Deficiency of guanidinoacetate methyltransferase GAMT deficiency Tags
Green Green List (high evidence)	GAMT Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Cerebral creatine deficiency syndrome 2 612736 Tags
Green Green List (high evidence)	GARS Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Charcot-Marie-Tooth disease, type 2D Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Neuropathy, distal hereditary motor, type VA Tags new-gene-name
Green Green List (high evidence)	GATM Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Arginine:glycine amidinotransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism) arginine:glycine amidinotransferase deficiency Cerebral creatine deficiency syndrome 3, 612718 Tags
Green Green List (high evidence)	GBA Early onset or syndromic epilepsy v4.196	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Gaucher disease, perinatal lethal, 608013 Gaucher disease, type II, 230900 Gaucher disease, type III, 231000 Gaucher disease, type IIIC, 231005 seizures Tags new-gene-name
Green Green List (high evidence)	GBA Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS 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 new-gene-name
Green Green List (high evidence)	GBE1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycogen storage disease IV, OMIM:232500 Polyglucosan body disease, adult form, OMIM:263570 Tags
Green Green List (high evidence)	GCDH Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glutaricaciduria, type I, 231670 Tags
Green Green List (high evidence)	GCH1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia Tags
Green Green List (high evidence)	GCLC Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Gamma-glutamylcysteine synthetase deficiency (Disorders of the gamma-glutamyl cycle) Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency 230450 Tags
Green Green List (high evidence)	GCSH Early onset or syndromic epilepsy v4.196	6 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Multiple mitochondrial dysfunctions syndrome 7, OMIM:620423 Glycine encephalopathy Transient neonatal hyperglycinemia Tags
Green Green List (high evidence)	GCSH Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Multiple mitochondrial dysfunctions syndrome 7, OMIM:620423 Glycine encephalopathy Transient neonatal hyperglycinemia Tags
Green Green List (high evidence)	GDAP1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Charcot-Marie-Tooth disease, axonal, type 2K, OMIM:607831 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, OMIM:607706 Charcot-Marie-Tooth disease, recessive intermediate, A, OMIM:608340 Charcot-Marie-Tooth disease, type 4A, OMIM:214400 Tags
Green Green List (high evidence)	GFAP Early onset or syndromic epilepsy v4.196	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Alexander disease, 203450 seizures Tags
Green Green List (high evidence)	GFER Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Disorders of the mitochondrial import system Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076 Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green Green List (high evidence)	GFM1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 1, 609060 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green Green List (high evidence)	GFM2 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 39, OMIM:618397 Tags
Green Green List (high evidence)	GFPT1 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Myasthenia, congenital, 12, with tubular aggregates(Disorders of protein N-glycosylation) 610542 Congenital myasthenic sydrome (Disorders of protein N-glycosylation) Tags
Green Green List (high evidence)	GIF Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Intrinsic factor deficiency Tags new-gene-name
Green Green List (high evidence)	GK Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glycerol kinase deficiency 307030 Tags
Green Green List (high evidence)	GLA Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources London North GLH NHS GMS Expert Review Green Phenotypes Fabry disease, cardiac variant, 301500 Fabry Disease Fabry disease (Sphingolipidoses) Fabry disease, 301500 Tags
Green Green List (high evidence)	GLB1 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 4B MPS IVB, Morquio B disease (MPS IV, Morquio disease) Mucopolysaccharidosis type IVB (Morquio), 253010 GM1-gangliosidosis (Sphingolipidoses) GM1-gangliosidosis, type II, 230600 GM1-gangliosidosis, type III, 230650 Mucopolysaccharidosis, Type IV Mucopolysaccharidosis Type IVB GM1-gangliosidosis, type I, 230500 Tags
Green Green List (high evidence)	GLB1 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes GM1-gangliosidosis, type II, 230600 seizures Tags
Green Green List (high evidence)	GLDC Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycine encephalopathy, 605899 seizures Tags
Green Green List (high evidence)	GLDC Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycine encephalopathy, 605899 Tags
Green Green List (high evidence)	GLRA1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperekplexia, hereditary 1, 149400 Tags
Green Green List (high evidence)	GLRA2 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Green Literature Phenotypes Intellectual developmental disorder, X-linked syndromic, Pilorge type, OMIM:301076 Tags
Green Green List (high evidence)	GLRX5 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 Disorders of iron homeostasis Tags
Green Green List (high evidence)	GLS Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412 Developmental and epileptic encephalopathy 71, OMIM:618328 ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339 Tags STR watchlist_moi
Green Green List (high evidence)	GLUD1 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperinsulinism-hyperammonemia syndrome, 606762 epilepsy Tags
Green Green List (high evidence)	GLUD1 Likely inborn error of metabolism - targeted testing not possible v4.137	5 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hyperinsulinemic hypoglycemia and hyperammonemia (Urea cycle disorders and inherited hyperammonaemias) Hyperinsulinism-hyperammonemia syndrome, 606762 Tags
Green Green List (high evidence)	GLUL Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Glutamine deficiency, congenital, 610015 seizures Tags
Green Green List (high evidence)	GLUL Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glutamine deficiency, congenital 610015 Tags
Green Green List (high evidence)	GLYCTK Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes D-glyceric aciduria 220120 D-glyceric aciduria (Disorders of serine, glycine or glycerate metabolism) Tags
Green Green List (high evidence)	GM2A Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes GM2-gangliosidosis, AB variant, 272750 seizures Hexosaminidase activator deficiency Tay-Sachs disease Tags
Green Green List (high evidence)	GM2A Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes GM2-gangliosidosis, AB variant, 272750 Tags
Green Green List (high evidence)	GMPPA Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Alacrima, achalasia, and mental retardation syndrome (MIM# 615510) Tags
Green Green List (high evidence)	GMPPB Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 OMIM:615350 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MONDO:0014140 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 OMIM:615351 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 MONDO:0014141 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352 autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142 Tags
Green Green List (high evidence)	GNAO1 Early onset or syndromic epilepsy v4.196	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY Epileptic encephalopathy, early infantile, 17 Tags
Green Green List (high evidence)	GNAQ Early onset or syndromic epilepsy v4.196	5 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Sturge-Weber syndrome, somatic, mosaic, OMIM:185300 Tags mosaicism somatic
Green Green List (high evidence)	GNB1 Early onset or syndromic epilepsy v4.196	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 42 OMIM:616973 intellectual disability, autosomal dominant 42 MONDO:0014855 Tags
Green Green List (high evidence)	GNB5 Early onset or syndromic epilepsy v4.196	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Expert Review Literature Phenotypes Intellectual developmental disorder with cardiac arrhythmia, OMIM:617173 Tags
Green Green List (high evidence)	GNE Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Sialuria OMIM:269921 sialuria MONDO:0010028 Nonaka myopathy OMIM:605820 GNE myopathy MONDO:0011603 Tags
Green Green List (high evidence)	GNMT Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glycine N-methyltransferase deficiency 606664 Tags
Green Green List (high evidence)	GNPAT Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Rhizomelic chondrodysplasia punctata type 2 (Peroxisomal disorders) Rhizomelic chondrodysplasia punctata, type 2 222765 Tags
Green Green List (high evidence)	GNPTAB Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mucolipidosis, Type II Mucolipidosis, Type III Alpha/Beta Mucolipidosis III alpha/beta Mucolipidosis II, I-cell disease (Other lysosomal disorders) Mucolipidosis II alpha/beta Tags
Green Green List (high evidence)	GNPTG Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mucolipidosis III, Pseudo-Hurler polydystrophy (Other lysosomal disorders) mucolipidpsis type III complementation group C Mucolipidosis, Type III Gamma Mucolipidosis III gamma Tags
Green Green List (high evidence)	GNS Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS 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 Green List (high evidence)	GORAB Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Geroderma osteodysplasticum OMIM:231070 geroderma osteodysplastica MONDO:0009271 Tags
Green Green List (high evidence)	GOSR2 Early onset or syndromic epilepsy v4.196	8 reviews 3 green 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Expert Phenotypes Epilepsy, progressive myoclonic 6, 614018 Tags founder-effect
Green Green List (high evidence)	GOT2 Early onset or syndromic epilepsy v4.196	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 82, OMIM:618721 Developmental and epileptic encephalopathy, 82, MONDO:0032880 Tags treatable
Green Green List (high evidence)	GPAA1 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Literature Expert Review Green Expert Review Green Literature Phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, 617810 Tags
Green Green List (high evidence)	GPD1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Phenotypes Hypertriglyceridemia, transient infantile, 614480 Tags
Green Green List (high evidence)	GPHN Early onset or syndromic epilepsy v4.196	9 reviews 3 green 4 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Expert Phenotypes Molybdenum cofactor deficiency C, OMIM:615501 Developmental and epileptic encephalopathy, MONDO:0100062 Tags
Green Green List (high evidence)	GPHN Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Molybdenum cofactor deficiency C, OMIM:615501 Mo cofactor deficiency, complementation group C (Disorders of molybdenum cofactor metabolism) Tags
Green Green List (high evidence)	GRHPR Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Primary hyperoxaluria type II (Disorders of glyoxylate metabolism) Hyperoxaluria, primary, type II Tags
Green Green List (high evidence)	GRIA2 Early onset or syndromic epilepsy v4.196	6 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Literature Phenotypes Neurodevelopmental disorder with language impairment and behavioral abnormalities, OMIM:618917 neurodevelopmental disorder with language impairment and behavioral abnormalities, MONDO:0030060 Tags
Green Green List (high evidence)	GRIA4 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Literature Phenotypes Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864 Tags
Green Green List (high evidence)	GRIK2 Early onset or syndromic epilepsy v4.196	6 reviews 5 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Phenotypes Mental retardation, autosomal recessive, 6, OMIM:611092 non-syndromic neurodevelopmental disorder (NDD), autosomal dominant Tags
Green Green List (high evidence)	GRIN1 Early onset or syndromic epilepsy v4.196	8 reviews 5 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Expert Review Expert Review Green Phenotypes Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254 intellectual disability, autosomal dominant 8 MONDO:0013655 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:0060629 Tags
Green Green List (high evidence)	GRIN2A Early onset or syndromic epilepsy v4.196	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services UKGTN Expert Expert Review Green Phenotypes Epilepsy, focal, with speech disorder and with or without mental retardation EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS LANDAU-KLEFFNER SYNDROME Tags
Green Green List (high evidence)	GRIN2B Early onset or syndromic epilepsy v4.196	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services UKGTN Expert Expert Review Green Phenotypes Intellectual developmental disorder, autosomal dominant 6, with or without seizures, OMIM:613970 Developmental and epileptic encephalopathy 27, OMIM:616139 Tags
Green Green List (high evidence)	GRIN2D Early onset or syndromic epilepsy v4.196	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 46 617162 Tags
Green Green List (high evidence)	GRM7 Early onset or syndromic epilepsy v4.196	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities, OMIM:618922 Tags
Green Green List (high evidence)	GRN Early onset or syndromic epilepsy v4.196	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ceroid lipofuscinosis, neuronal, 11, OMIM:614706 neuronal ceroid lipofuscinosis 1, MONDO:0013866 Tags
Green Green List (high evidence)	GSS Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glutathione synthetase (GSS) deficiency Glutathione synthetase deficiency 266130 Glutathione synthetase deficiency with 5-oxoprolinuria Glutathione synthetase deficiency without 5-oxoprolinuria Pyroglutamic aciduria 5-oxoprolinuria Hemolytic anemia due to glutathione synthetase deficiency 231900 Glutathione synthetase deficiency (Disorders of the gamma-glutamyl cycle) Fanconi nephropathy Tags
Green Green List (high evidence)	GTPBP2 Early onset or syndromic epilepsy v4.196	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Literature Phenotypes Jaberi-Elahi syndrome 617988 Global developmental delay Intellectual disability Seizures Tags
Green Green List (high evidence)	GTPBP3 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 23 616198 Tags
Green Green List (high evidence)	GUSB Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 7 Mucopolysaccharidosis VII, 253220 MPS VII, Sly disease (MPS IV, Morquio disease) Mucopolysaccharidosis Type VII Mucopolysaccharidosis, Type VII Tags
Green Green List (high evidence)	GYG1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes ?Glycogen storage disease XV Tags
Green Green List (high evidence)	GYS1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycogen storage disease 0, muscle Tags
Green Green List (high evidence)	GYS2 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycogen Storage Disease Glycogen Storage Disease Type 0, Liver Glycogen Storage Disorders- Liver Glycogen storage disease type 0a, liver (Glycogen storage disorders) Glycogen storage disease, type 0, 240600 fasting intolerance without enlarged liver Tags
Green Green List (high evidence)	H3F3A Early onset or syndromic epilepsy v4.196	7 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Developmental delay Intellectual disability Neurodegeneration Epilepsy Facial dysmorphism Congenital anomalies Tags new-gene-name
Green Green List (high evidence)	H3F3B Early onset or syndromic epilepsy v4.196	8 reviews 2 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Developmental delay Intellectual disability Neurodegeneration Epilepsy Facial dysmorphism Congenital anomalies Tags new-gene-name
Green Green List (high evidence)	HAAO Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple congenital malformations VACTERL-like phenotype Tags
Green Green List (high evidence)	HACE1 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Expert Review Phenotypes Spastic paraplegia and psychomotor retardation with or without seizures 616756 Tags
Green Green List (high evidence)	HADH Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH NHS GMS Phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency 231530 Hyperinsulinemic hypoglycemia, familial, 4 609975 Tags
Green Green List (high evidence)	HADHA Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation) Trifunctional protein deficiency 609015 Tags
Green Green List (high evidence)	HADHB Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation) Trifunctional protein deficiency 609015 Tags
Green Green List (high evidence)	HAMP Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hemochromatosis, type 2B 613313 Hereditary haemochromatosis Type 2 (Disorder of iron metabolism) Tags
Green Green List (high evidence)	HARS2 Likely inborn error of metabolism - targeted testing not possible v4.137	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Green London North GLH NHS GMS Phenotypes Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Multiple respiratory chain complex deficiencies (disorders of protein synthesis) ?Perrault syndrome 2 614926 Perrault syndrome 2, 614926 Tags
Green Green List (high evidence)	HAX1 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Literature Literature Phenotypes Neutropenia, severe congenital 3, autosomal recessive, 610738 Tags
Green Green List (high evidence)	HCCS Likely inborn error of metabolism - targeted testing not possible v4.137	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 London North GLH NHS GMS Expert Review Green Phenotypes Linear skin defects with multiple congenital anomalies 1 Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Microphthalmia, syndromic 7, 309801 Tags
Green Green List (high evidence)	HCFC1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) 309541 Tags
Green Green List (high evidence)	HCFC1 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type), 309541 Tags
Green Green List (high evidence)	HCN1 Early onset or syndromic epilepsy v4.196	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Expert Review Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 24 Tags
Green Green List (high evidence)	HCN2 Early onset or syndromic epilepsy v4.196	6 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Genetic epilepsy with febrile seizures plus Other seizure disorders Tags
Green Green List (high evidence)	HECW2 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Expert Review Green Expert Review Phenotypes Neurodevelopmental disorder with hypotonia, seizures, and absent language 617268 Tags
Green Green List (high evidence)	HEPACAM Early onset or syndromic epilepsy v4.196	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 2A, OMIM:613925 Tags
Green Green List (high evidence)	HERC2 Early onset or syndromic epilepsy v4.196	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mental retardation, autosomal recessive 38, OMIM:615516 Tags
Green Green List (high evidence)	HEXA Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes GM2-gangliosidosis, several forms, 272800 Tay-Sachs disease, 272800 Tags
Green Green List (high evidence)	HEXA Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes GM2-gangliosidosis, several forms, 272800 Tay-Sachs disease, 272800 Tags
Green Green List (high evidence)	HEXB Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800 Tags
Green Green List (high evidence)	HEXB Early onset or syndromic epilepsy v4.196	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800 Tags
Green Green List (high evidence)	HFE Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hemochromatosis, OMIM:235200 Tags
Green Green List (high evidence)	HFE2 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hemochromatosis, type 2A, 602390 Hereditary haemochromatosis Type 2 (Disorder of iron metabolism) Tags new-gene-name
Green Green List (high evidence)	HGD Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Alkaptonuria Tags
Green Green List (high evidence)	HGSNAT Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mucopolysaccharidosis Type III Mucopolysaccharidosis, Type III Retinitis Pigmentosa 73 Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 Mucopolysaccharidosis Type IIIC MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses) Tags
Green Green List (high evidence)	HIBCH Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 HIBCH deficiency Methacrylic aciduria (Organic acidurias) Tags
Green Green List (high evidence)	HID1 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Syndromic infantile encephalopathy Hypopituitarism Developmental and epileptic encephalopathy 105 with hypopituitarism, OMIM:619983 Tags
Green Green List (high evidence)	HLCS Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Holocarboxylase synthetase deficiency Holocarboxylase synthetase deficiency, 253270 lactic acidosis with seizures and eczema, immune deficiency Holocarboxylase synthetase deficiency (Disorders of biotin metabolism) Tags
Green Green List (high evidence)	HMBS Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Green Phenotypes Porphyria, acute intermittent, nonerythroid variant, 176000 Acute intermittent porphyria (Acute neuropathic porphyrias) Porphyria, acute intermittent, 176000 Tags
Green Green List (high evidence)	HMGCL Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Other Phenotypes 3-Hydroxy-3-methyl glutaric aciduria (Organic acidurias) 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency HMG-CoA lyase deficiency, 246450 HMGCLD Tags
Green Green List (high evidence)	HMGCL Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Other Expert Review Green Expert Review Green Other Phenotypes HMG-CoA lyase deficiency, 246450 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency HMGCLD Tags
Green Green List (high evidence)	HMGCS2 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes HMG-CoA synthase-2 deficiency Tags
Green Green List (high evidence)	HNRNPH2 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Wessex and West Midlands GLH NHS GMS Other Expert Review Green Expert Review Green Other Phenotypes Mental retardation, X-linked, syndromic, Bain type, 300986 MRXSB Tags
Green Green List (high evidence)	HNRNPR Early onset or syndromic epilepsy v4.196	6 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Global developmental delay Intellectual disability Seizures Postnatal microcephaly Short digit Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, OMIM:620073 Tags
Green Green List (high evidence)	HNRNPU Early onset or syndromic epilepsy v4.196	7 reviews 1 green 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes Epileptic encephalopathy Epileptic encephalopathy, early infantile, 54, 617391 Tags
Green Green List (high evidence)	HOGA1 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hyperoxaluria Type III (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Hyperoxaluria, primary, type III 613616 Tags
Green Green List (high evidence)	HPD Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hawkinsinuria 140350 Tyrosinemia, type III 276710 Tags
Green Green List (high evidence)	HPDL Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026 Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613 Tags gene-checked
Green Green List (high evidence)	HPRT1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hyperuricemia, HRPT-related, OMIM:300323 Lesch-Nyhan syndrome, OMIM:300322 Tags
Green Green List (high evidence)	HPS1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hermansky-Pudlak syndrome 1 203300 Tags
Green Green List (high evidence)	HRAS Early onset or syndromic epilepsy v4.196	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Costello syndrome, 218040 Schimmelpenning-Feuerstein-Mims syndrome, 218040 Tags
Green Green List (high evidence)	HS2ST1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability dysmorphic features congenital anomalies Tags
Green Green List (high evidence)	HSD17B10 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes HSD10 mitochondrial disease, OMIM:300438 Tags
Green Green List (high evidence)	HSD17B4 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes D-bifunctional protein deficiency, 261515 Peroxisomal D-bifunctional protein deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation) Tags
Green Green List (high evidence)	HSD17B4 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes D-bifunctional protein deficiency, 261515 Tags
Green Green List (high evidence)	HSD3B7 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes 3- ?-hydroxysterol ?5-oxidoreductase/isomerase deficiency (Disorders of bile acid biosynthesis) Bile acid synthesis defect, congenital, 1, 607765 Tags
Green Green List (high evidence)	HSPD1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 4, OMIM:612233 (AR) Spastic paraplegia 13, autosomal dominant, OMIM:605280 (AD) Tags
Green Green List (high evidence)	HTRA2 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 3-methylglutaconic aciduria, type VIII 617248 Tags
Green Green List (high evidence)	HTRA2 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Literature Expert Review Green Phenotypes 3-methylglutaconic aciduria, type VIII Tags
Green Green List (high evidence)	HYAL1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes ?Mucopolysaccharidosis type IX, 601492 MPS IX, Natowicz (MPS IV, Morquio disease) Tags
Green Green List (high evidence)	IARS2 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes CAGSSS - Cataracts (CA), growth hormone deficiency (G), sensory neuropathy (S), sensorineural hearing loss (S), and skeletal dysplasia (S) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) No OMIM phenotype Tags
Green Green List (high evidence)	IBA57 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330 ?Spastic paraplegia 74, autosomal recessive, OMIM:616451 Tags
Green Green List (high evidence)	IDH2 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias) D-2-hydroxyglutaric aciduria 2, 613657 Tags
Green Green List (high evidence)	IDS Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources London North GLH NHS GMS Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 2 MPS II, Hunter disease (Mucopolysaccharidoses) Mucopolysaccharidosis II, 309900 Mucopolysaccharidosis Type II Tags
Green Green List (high evidence)	IDUA Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS 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 Green List (high evidence)	IER3IP1 Likely inborn error of metabolism - targeted testing not possible v4.137	6 reviews 4 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Other Phenotypes Microcephaly, epilepsy, and diabetes syndrome, 614231 MEDS Tags
Green Green List (high evidence)	IER3IP1 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Other Expert Review Green Expert Review Green Other Phenotypes Microcephaly, epilepsy, and diabetes syndrome, 614231 MEDS Tags
Green Green List (high evidence)	IFIH1 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Aicardi-Goutieres syndrome 7, OMIM:615846 Tags
Green Green List (high evidence)	IKBKG Early onset or syndromic epilepsy v4.196	5 reviews 3 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 Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Incontinentia pigmenti, OMIM:308300 Tags
Green Green List (high evidence)	IQSEC2 Early onset or syndromic epilepsy v4.196	7 reviews 5 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Expert Review Expert Review Green Phenotypes Intellectual developmental disorder, X-linked 1, OMIM:309530 Tags
Green Green List (high evidence)	IRF2BPL Early onset or syndromic epilepsy v4.196	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Literature Phenotypes Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures OMIM:618088 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0060759 Tags
Green Green List (high evidence)	15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss ISCA-37404-Loss Region Early onset or syndromic epilepsy v4.196	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green ClinGen Phenotypes microcephaly 105832 Developmental delay, muscle weakness Mental retardation Angelman syndrome 176270 Prader-Willi syndrome Tags
Green Green List (high evidence)	15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) Loss ISCA-37411-Loss Region Early onset or syndromic epilepsy v4.196	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green ClinGen Phenotypes PMID: 19289393 incomplete penetrance for developmental delay, mental retardation, or borderline IQ in most and autistic spectrum disorder (6/14), speech delay, aggressiveness, attention deficit hyperactivity disorder, and other behavioural problems 612001 PMID: 18278044 mental retardation, epilepsy and variable facial and digital dysmorphisms PMID: 19136953 idiopathic generalized epilepsy without other features previously associated with 15q13.3 microdeletions, such as intellectual disability, autism or schizophrenia Tags
Green Green List (high evidence)	16p13.11 recurrent region (includes MYH11) Loss ISCA-37415-Loss Region Early onset or syndromic epilepsy v4.196	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green ClinGen Phenotypes PMID: 18550696 Phenotypic variability, common features were identified: mental retardation, microcephaly and epilepsy in three patients, two of these had also short stature, and two other deletion carriers ascertained prenatally presented with cleft lip and midline defects Tags
Green Green List (high evidence)	8p23.1 recurrent region (includes GATA4) Gain ISCA-37423-Gain Region Early onset or syndromic epilepsy v4.196	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green ClinGen Phenotypes Behavioral problems, cleft lip and/or palate, macrocephaly, and seizures were confirmed as additional features among the new patients, and novel features included neonatal respiratory distress, attention deficit hyperactivity disorder (ADHD), ocular anomalies, balance problems, hypotonia, and hydrocele. mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly) congenital heart disease 8p23.1 duplication syndrome Tags watchlist
Green Green List (high evidence)	4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss ISCA-37429-Loss Region Early onset or syndromic epilepsy v4.196	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS ClinGen Phenotypes Wolf-Hirschhorn syndrome, OMIM:194190 Tags
Green Green List (high evidence)	17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Loss ISCA-37430-Loss Region Early onset or syndromic epilepsy v4.196	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green ClinGen Phenotypes microcephaly, dysgenesis of the corpus callosum, and cerebellar atrophy, as well as neurobehavioral disorders, including delayed development, mental retardation, and attention deficit-hyperactivity disorder. Patients with duplications of YWHAE tended to have macrosomia, facial dysmorphism, and mild developmental delay growth restriction, craniofacial dysmorphisms, structural abnormalities of brain and cognitive impairment Chromosome 17p13.3 duplication syndrome prominent forehead, bitemporal hollowing, short nose with upturned nares, protuberant upper lip, thin vermilion border, and small jaw Characteristic facies, pre- and post-natal growth retardation 247200 classic lissencephaly (pachygyria, incomplete or absent gyration of the cerebrum), microcephaly, wrinkled skin over the glabella and frontal suture, prominent occiput, narrow forehead, downward slanting palpebral fissures, small nose and chin, cardiac malformations, hypoplastic male extrenal genitalia, growth retardation, and mental deficiency with seizures and EEG abnormalities Miller-Dieker lissencephaly syndrome Tags
Green Green List (high evidence)	17q12 recurrent (RCAD syndrome) region (includes HNF1B) Gain ISCA-37432-Gain Region Early onset or syndromic epilepsy v4.196	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green ClinGen Phenotypes developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia Speech and language delay Seizures (not all) Chromosome 17q12 duplication syndrome 614526 Behavioural difficulties Tags
Green Green List (high evidence)	22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss ISCA-37433-Loss Region Early onset or syndromic epilepsy v4.196	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes Learning difficulties immune deficiency renal anomalies cleft palate, polydactyly 22q11.2 deletion syndrome diaphragmatic hernia 192430 polyhydramnios DiGeorge syndrome Velocardiofacial syndrome 188400 facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay congenital heart disease Tags
Green Green List (high evidence)	1p36 terminal region (includes GABRD) Loss ISCA-37434-Loss Region Early onset or syndromic epilepsy v4.196	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green ClinGen Phenotypes posteriorly rotated, low-set, abnormal ears brachycephaly epicanthus heart defects pointed chin deep-set eyes microcephaly hypotonia seizures poor/absent speech central nervous system anomalies large anterior fontanels microbrachycephaly mental retardation growth impairment large, late-closing anterior fontanel flat nose nasal bridge developmental delay hearing impairment distinct dysmorphic features 1p36 deletion syndrome 607872 Tags
Green Green List (high evidence)	2p21 region (includes PREPL and SLC3A1) Loss ISCA-37440-Loss Region Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes hyperphagia lactic acidemia mild/moderate mental retardation Hypotonia-cystinuria syndrome (HCS) 606407 failure to thrive nephrolithiasis rapid weight gain in late childhood minor facial dysmorphism growth hormone deficiency facial dysmorphism respiratory chain complex IV deficiency cystinuria neonatal seizures 2p21 deletion syndrome hypotonia severe somatic and developmental delay Tags
Green Green List (high evidence)	22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss ISCA-37446-Loss Region Early onset or syndromic epilepsy v4.196	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes micrognathia neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells clefting DiGeorge syndrome Velocardiofacial syndrome 188400 cardiac malformations Hearing deficits Tags
Green Green List (high evidence)	15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain ISCA-37478-Gain Region Early onset or syndromic epilepsy v4.196	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green ClinGen Phenotypes hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636 chromosome 15q11-q13 duplication syndrome autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems Tags
Green Green List (high evidence)	15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss ISCA-37478-Loss Region Early onset or syndromic epilepsy v4.196	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green ClinGen Phenotypes microcephaly Developmental delay, muscle weakness Mental retardation Angelman syndrome 176270 Prader-Willi syndrome 105830 Tags
Green Green List (high evidence)	1q43q44 terminal region (includes AKT3) Loss ISCA-37493-Loss Region Early onset or syndromic epilepsy v4.196	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green ClinGen Phenotypes microcephaly seizures agenesis of the corpus callosum intellectual disability hand and foot anomalies 612337 non-specific craniofacial anomalies hypoplasia psychomotor retardation hypogenesis of the corpus callosum Tags
Green Green List (high evidence)	Xp11.22p11.23 recurrent region (includes SHROOM4) Gain ISCA-46290-Gain Region Early onset or syndromic epilepsy v4.196	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS Expert Review Green ClinGen Phenotypes Idiopathic mental retardation, speech delay, and a peculiar electroencephalographic (EEG) pattern in childhood. Autism and epilepsy, severe intellectual disability and dysmorphic facial features. Moderate to severe intellectual disability, early onset of puberty, language impairment, and age related epileptic syndromes such as West syndrome and focal epilepsy with activation during sleep evolving in some patients to continuous spikes-and-waves during slow sleep 300801 Tags
Green Green List (high evidence)	15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7 and OTUD7A) Loss ISCA-46295-Loss Region Early onset or syndromic epilepsy v4.196	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green ClinGen Phenotypes seizures 20236110 mental retardation 22775350 dysmorphic features developmental delay severe epileptic encephalopathy Tags
Green Green List (high evidence)	16p12.2 recurrent region (distal)(includes OTOA) Loss ISCA-46297-Loss Region Early onset or syndromic epilepsy v4.196	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Tags
Green Green List (high evidence)	Xq28 region (includes MECP2) Gain ISCA-46304-Gain Region Early onset or syndromic epilepsy v4.196	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources ClinGen Expert Review Green Tags
Green Green List (high evidence)	ISCA1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Expert list Phenotypes MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613 Tags
Green Green List (high evidence)	ISCA2 Likely inborn error of metabolism - targeted testing not possible v4.137	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple mitochondrial dysfunctions syndrome 4 616370 Tags
Green Green List (high evidence)	ISCU Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Myopathy with lactic acidosis, hereditary, 255125 Disorders of iron homeostasis Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Rhabdomyolysis and metabolic muscle disorders Tags non-coding-known-pathogenic
Green Green List (high evidence)	ISPD Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 Tags new-gene-name
Green Green List (high evidence)	ITPA Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Expert Review Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 35, 616647 Tags
Green Green List (high evidence)	ITPA Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Inosine triphosphatase deficiency (Disorders of purine metabolism) Epileptic encephalopathy, early infantile, 35, 616647 [Inosine triphosphatase deficiency], 613850 Tags
Green Green List (high evidence)	IVD Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections. Isovaleric acidemia Isovaleric aciduria (Organic acidurias) Tags
Green Green List (high evidence)	KARS Likely inborn error of metabolism - targeted testing not possible v4.137	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Deafness, autosomal recessive 89, 613916 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Charcot-Marie-Tooth disease, recessive intermediate, B (Lysyl-tRNA synthetase mutations) (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 Tags new-gene-name
Green Green List (high evidence)	KARS Early onset or syndromic epilepsy v4.196	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Expert Review Literature Phenotypes Global developmental delay Intellectual disability Seizures Charcot-Marie-Tooth disease, recessive intermediate, B - 613641 Deafness, autosomal recessive 89 - 613916 Tags new-gene-name
Green Green List (high evidence)	KAT5 Early onset or syndromic epilepsy v4.196	7 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Severe global developmental delay Intellectual disability Seizures Microcephaly Behavioral abnormality Sleep disturbance Morphological abnormality of the central nervous system Short stature Oral cleft Abnormality of the face Tags
Green Green List (high evidence)	KAT8 Early onset or syndromic epilepsy v4.196	6 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Literature Phenotypes Li-Ghorgani-Weisz-Hubshman syndrome, OMIM:618974 Global developmental delay Intellectual disability Seizures Abnormality of vision Feeding difficulties Abnormality of the cardiovascular system Autism Tags missense watchlist_moi
Green Green List (high evidence)	KCNA2 Early onset or syndromic epilepsy v4.196	8 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Expert Review Green Expert Review Phenotypes Developmental and epileptic encephalopathy 32 OMIM:616366 developmental and epileptic encephalopathy, 32 MONDO:0014607 Tags
Green Green List (high evidence)	KCNB1 Early onset or syndromic epilepsy v4.196	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Expert Review Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 26 Tags
Green Green List (high evidence)	KCNC1 Early onset or syndromic epilepsy v4.196	8 reviews 1 green 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Expert Review Green Expert Review Phenotypes Epilepsy, progressive myoclonic 7 616187 Tags
Green Green List (high evidence)	KCNC2 Early onset or syndromic epilepsy v4.196	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes epileptic encephalopathy spastic tetraplegia opisthotonus attacks intellectual disability West syndrome Tags
Green Green List (high evidence)	KCND2 Early onset or syndromic epilepsy v4.196	7 reviews 2 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Expert Review Expert list Phenotypes epilepsy, NBO:0000642 seizure, HP:0001250 Tags gene-checked
Green Green List (high evidence)	KCNH1 Early onset or syndromic epilepsy v4.196	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes Temple-Baraitser syndrome, OMIM:611816 Zimmermann-Laband syndrome 1, OMIM:135500 Intellectual disability Encephalopathy without features of TBS/ZLS Tags
Green Green List (high evidence)	KCNJ10 Early onset or syndromic epilepsy v4.196	7 reviews 5 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Expert Expert Review Green Phenotypes SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE (SESAME) SESAME syndrome Tags
Green Green List (high evidence)	KCNJ11 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Diabetes, permanent neonatal, with or without neurologic features, 606176 DEND syndrome Tags
Green Green List (high evidence)	KCNK4 Early onset or syndromic epilepsy v4.196	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Literature Expert Review Phenotypes Neurodevelopmental delay Intellectual disability Seizures Gingival overgrowth Hypertrichosis Tags
Green Green List (high evidence)	KCNMA1 Early onset or syndromic epilepsy v4.196	13 reviews 4 green 5 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Expert Phenotypes Cerebellar atrophy, developmental delay, and seizures, OMIM:617643 Cerebellar atrophy, developmental delay, and seizures, MONDO:0060551 Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, OMIM:609446 Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276 Liang-Wang syndrome, OMIM:618729 Liang-Wang syndrome, MONDO:0032886 {Epilepsy, idiopathic generalized, susceptibility to, 16}, OMIM:618596 Epilepsy, idiopathic generalized, susceptibility to, 16, MONDO:0032827 Tags
Green Green List (high evidence)	KCNQ2 Early onset or syndromic epilepsy v4.196	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen UKGTN Expert Expert Review Green Phenotypes Developmental and epileptic encephalopathy 7, OMIM:613720 Seizures, benign neonatal, 1, OMIM:121200 Tags
Green Green List (high evidence)	KCNQ3 Early onset or syndromic epilepsy v4.196	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Expert Expert Review Green Phenotypes Seizures, benign neonatal, type 2 Tags
Green Green List (high evidence)	KCNQ5 Early onset or syndromic epilepsy v4.196	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 46, 617601 Tags
Green Green List (high evidence)	KCNT1 Early onset or syndromic epilepsy v4.196	8 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen UKGTN Expert Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 14 Epilepsy, nocturnal frontal lobe, 5 MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY Tags
Green Green List (high evidence)	KCNT2 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Expert Review Green Expert Review Green Expert Review Expert list Phenotypes epilepsy ?Epileptic encephalopathy, early infantile, 57 Tags
Green Green List (high evidence)	KCTD3 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes No OMIM number Epileptic encephalopathy Tags gene-checked
Green Green List (high evidence)	KCTD7 Early onset or syndromic epilepsy v4.196	7 reviews 1 green 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Expert Review Green Expert Phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions 611726 Tags
Green Green List (high evidence)	KIAA1109 Early onset or syndromic epilepsy v4.196	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Alkuraya-Kucinskas syndrome 617822 seizures Tags new-gene-name
Green Green List (high evidence)	KIF1A Early onset or syndromic epilepsy v4.196	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes NESCAV syndrome, OMIM:614255 Tags
Green Green List (high evidence)	KIF2A Early onset or syndromic epilepsy v4.196	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Cortical dysplasia, complex, with other brain malformations 3, 615411 Tags
Green Green List (high evidence)	KIF5C Early onset or syndromic epilepsy v4.196	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Cortical dysplasia, complex, with other brain malformations 2, 615282 Tags
Green Green List (high evidence)	KLHL20 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder Tags gene-checked
Green Green List (high evidence)	KMT2E Early onset or syndromic epilepsy v4.196	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Literature Phenotypes O'Donnell-Luria-Rodan syndrome, 618512 Global developmental delay Intellectual disability Autism Seizures Abnormality of skull size Tags
Green Green List (high evidence)	KPTN Early onset or syndromic epilepsy v4.196	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Expert Review Phenotypes Intellectual developmental disorder, autosomal recessive 41, OMIM:615637 macrocephaly-developmental delay syndrome, MONDO:0014289 Tags
Green Green List (high evidence)	KRAS Early onset or syndromic epilepsy v4.196	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiofaciocutaneous syndrome 2, 615278 Tags
Green Green List (high evidence)	KYNU Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism) VACTERL-like phenotype multiple congenital malformations ?Hydroxykynureninuria, 236800 Tags
Green Green List (high evidence)	L2HGDH Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes L-2-hydroxyglutaric aciduria, 236792 Tags
Green Green List (high evidence)	LAMP2 Likely inborn error of metabolism - targeted testing not possible v4.137	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 London North GLH NHS GMS Expert Review Green Phenotypes Danon disease Tags
Green Green List (high evidence)	LARGE1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154 N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Tags
Green Green List (high evidence)	LARS Early onset or syndromic epilepsy v4.196	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Infantile liver failure syndrome 1, MIM# 615438 Tags new-gene-name
Green Green List (high evidence)	LARS Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ?Infantile liver failure syndrome 1, 615438 Tags new-gene-name
Green Green List (high evidence)	LARS2 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Perrault syndrome 4, OMIM:615300 Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021 Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only) Multiple respiratory chain complex deficiencies (disorders of protein synthesis Tags
Green Green List (high evidence)	LBR Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes ?Reynolds syndrome 613471 Greenberg skeletal dysplasia 215140 Pelger-Huet anomaly 169400 Pelger-Huet anomaly with mild skeletal anomalies 618019 Tags
Green Green List (high evidence)	LCAT Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Norum disease/LCAT deficiency, 245900 Fish-eye disease, 136120 Lecithin cholesterol acyltransferase deficiency (Disorders of high density lipoprotein metabolism) Tags
Green Green List (high evidence)	LCT Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Lactose intolerance (Other carbohydrate disorders) Lactase deficiency, congenital, 223000 Tags
Green Green List (high evidence)	LDHA Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycogen Storage Disease Glycogen storage disease XI, 612933 Muscle LDH deficiency (Glycogen storage disorders) Tags
Green Green List (high evidence)	LDLR Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hypercholesterolemia, familial, 1 143890 LDL cholesterol level QTL2 143890 Tags
Green Green List (high evidence)	LDLRAP1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hypercholesterolemia, familial, 4 603813 Tags
Green Green List (high evidence)	LETM1 Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 Tags
Green Green List (high evidence)	LGI1 Early onset or syndromic epilepsy v4.196	9 reviews 5 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Expert Review Green UKGTN Phenotypes Epilepsy, familial temporal lobe, 1 600512 Tags
Green Green List (high evidence)	LIAS Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462 Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green Green List (high evidence)	LIAS Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperglycinemia, lactic acidosis, and seizures, 614462 Tags
Green Green List (high evidence)	LIPA Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Cholesteryl ester storage disease Tags
Green Green List (high evidence)	LIPT1 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lipoyltransferase 1 deficiency Tags
Green Green List (high evidence)	LIPT2 Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 Tags
Green Green List (high evidence)	LMBRD1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria, cblF type, 277380 Tags
Green Green List (high evidence)	LMBRD2 Early onset or syndromic epilepsy v4.196	4 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Global developmental delay Intellectual disability Microcephaly Seizures Abnormality of nervous system morphology Abnormality of the eye Tags gene-checked
Green Green List (high evidence)	LONP1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373) Tags
Green Green List (high evidence)	LPIN1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Myoglobinuria, acute recurrent, autosomal recessive Tags
Green Green List (high evidence)	LPL Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Lipoprotein lipase deficiency, 238600 Combined hyperlipidemia, familial, 144250 Familial lipoprotein lipase deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias) Tags
Green Green List (high evidence)	LRPPRC Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Leigh syndrome, French-Canadian type, 220111 Mitochondrial Diseases Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Isolated complex IV deficiency Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Tags
Green Green List (high evidence)	LYRM4 Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 19, OMIM:615595 Tags
Green Green List (high evidence)	LYRM7 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Mitochondrial complex III deficiency, nuclear type 8 Isolated complex III deficiency severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle leukoencephalopathy and complex III deficiency 615838 Tags
Green Green List (high evidence)	MACF1 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Expert Review Literature Phenotypes Intellectual disability Seizures Lissencephaly Brainstem dysplasia Lissencephaly 9 with complex brainstem malformation, 618325 Tags
Green Green List (high evidence)	MADD Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes DEEAH syndrome, OMIM:619004 deeah syndrome, MONDO:0033561: Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia, OMIM:619005 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia, MONDO:0033562 Tags
Green Green List (high evidence)	MAF Early onset or syndromic epilepsy v4.196	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Expert Review Phenotypes Ayme-Gripp syndrome 601088 Tags
Green Green List (high evidence)	MAGT1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London North GLH NHS GMS Phenotypes Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853 Tags
Green Green List (high evidence)	MAN1B1 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes MAN1B1-CDG (Disorders of protein N-glycosylation) Mental retardation, autosomal recessive 15 614202 Tags
Green Green List (high evidence)	MAN2B1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mannosidosis, alpha-, types I and II Tags
Green Green List (high evidence)	MANBA Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mannosidosis, beta 248510 Tags
Green Green List (high evidence)	MAOA Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London North GLH NHS GMS Phenotypes Brunner syndrome 300615 {Antisocial behavior} 300615 Tags
Green Green List (high evidence)	MAP2K1 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiofaciocutaneous syndrome 3, 615279 Tags
Green Green List (high evidence)	MAP2K2 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiofaciocutaneous syndrome 4, 615280 Tags
Green Green List (high evidence)	MARS2 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Spastic Ataxia 13, autosomal recessive, 611390 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) ?Combined oxidative phosphorylation deficiency 25 Tags
Green Green List (high evidence)	MAT1A Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency Tags
Green Green List (high evidence)	MBD5 Early onset or syndromic epilepsy v4.196	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services UKGTN Expert Review Green Phenotypes Mental retardation, autosomal dominant 1 Tags
Green Green List (high evidence)	MBOAT7 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Expert Review Green Expert Review Phenotypes Mental retardation, autosomal recessive 57 617188 Tags
Green Green List (high evidence)	MCCC1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 Tags
Green Green List (high evidence)	MCCC2 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 Tags
Green Green List (high evidence)	MCEE Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Methylmalonyl-CoA epimerase deficiency (Organic acidurias) Methylmalonyl-CoA epimerase deficiency metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections Tags
Green Green List (high evidence)	MCOLN1 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mucolipidosis, Type IV Mucolipidosis IV (Other lysosomal disorders) Tags
Green Green List (high evidence)	MDH2 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 51 617339 Tags
Green Green List (high evidence)	MDH2 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Literature Expert Review Green Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 51 Tags
Green Green List (high evidence)	MECP2 Early onset or syndromic epilepsy v4.196	8 reviews 6 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen UKGTN Expert Expert Review Green Phenotypes Encephalopathy, neonatal severe Angelman syndrome Mental retardation, X-linked syndromic, Lubs type Mental retardation, X-linked, syndromic 13 Rett syndrome Tags
Green Green List (high evidence)	MECR Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282 Tags
Green Green List (high evidence)	MED11 Early onset or syndromic epilepsy v4.196	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, OMIM:620327 Tags
Green Green List (high evidence)	MED12 Early onset or syndromic epilepsy v4.196	7 reviews 3 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 Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Lujan-Fryns syndrome, 309520 Opitz-Kaveggia syndrome, 305450 Tags Skewed X-inactivation
Green Green List (high evidence)	MED27 Early onset or syndromic epilepsy v4.196	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Intellectual disability Axial hypotonia Spasticity Dystonia Cerebellar hypoplasia Cataracts Epilepsy Tags
Green Green List (high evidence)	MEF2C Early onset or syndromic epilepsy v4.196	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services UKGTN Expert Expert Review Green Phenotypes Mental retardation, autosomal dominant 20 MENTAL RETARDATION-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations Tags
Green Green List (high evidence)	MFF Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Expert Review Green Phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086 Tags
Green Green List (high evidence)	MFF Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2 Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green Green List (high evidence)	MFN2 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260 Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM:617087 Hereditary motor and sensory neuropathy VIA, OMIM:601152 Tags
Green Green List (high evidence)	MFSD8 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 7 61095 Tags
Green Green List (high evidence)	MFSD8 Early onset or syndromic epilepsy v4.196	8 reviews 2 green 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Expert Phenotypes Ceroid lipofuscinosis, neuronal, 7 610951 Tags
Green Green List (high evidence)	MGAT2 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes N-acetylglucosaminyltransferase deficiency (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type IIa 212066 Tags
Green Green List (high evidence)	MGME1 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Mitochondrial DNA depletion syndrome 11, 615084 Disorders of mitochondrial DNA maintenance and integrity Tags
Green Green List (high evidence)	MICU1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy with extrapyramidal signs 615673 Tags
Green Green List (high evidence)	MINPP1 Early onset or syndromic epilepsy v4.196	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Pontocerebellar hypoplasia Tags
Green Green List (high evidence)	MIPEP Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Phenotypes Combined oxidative phosphorylation deficiency 31, 617228 Tags
Green Green List (high evidence)	MLC1 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts, 604004 generalized tonic-clonic seizures focal seizures Tags
Green Green List (high evidence)	MLYCD Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS 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 Green List (high evidence)	MMAA Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Methylmalonic aciduria, vitamin B12-responsive 251100 Defect in adenosylcobalamin synthesis-cbl A (Disorders of cobalamin absorption, transport and metabolism) Tags
Green Green List (high evidence)	MMAB Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Defect in adenosylcobalamin synthesis-cbl B (Disorders of cobalamin absorption, transport and metabolism) Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type 251110 Tags
Green Green List (high evidence)	MMACHC Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria, cblC type, 277400 Tags
Green Green List (high evidence)	MMACHC Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Methylmalonic aciduria and homocystinuria, cblC type, 277400 Tags
Green Green List (high evidence)	MMADHC Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Homocystinuria, cblD type, variant 1 Tags
Green Green List (high evidence)	MMADHC Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Methylmalonic aciduria and homocystinuria, cblD type, 277410 Tags
Green Green List (high evidence)	MOCS1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Molybdenum cofactor deficiency A 252150 Tags
Green Green List (high evidence)	MOCS1 Early onset or syndromic epilepsy v4.196	8 reviews 2 green 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Expert Phenotypes Molybdenum cofactor deficiency A 252150 Tags
Green Green List (high evidence)	MOCS2 Early onset or syndromic epilepsy v4.196	8 reviews 2 green 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Expert Phenotypes Molybdenum cofactor deficiency B 252160 Tags
Green Green List (high evidence)	MOCS2 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Molybdenum cofactor deficiency B 252160 Tags
Green Green List (high evidence)	MOGS Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Expert Review Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIb, 606056 Tags
Green Green List (high evidence)	MOGS Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIb 606056 MOGS-CDG (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type IIb, 606056 (MOGS-CDG (Disorders of protein N-glycosylation)) Tags
Green Green List (high evidence)	MPC1 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Mitochondrial pyruvate carrier deficiency, OMIM:614741 Tags
Green Green List (high evidence)	MPDU1 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type If, 609180 seizures Tags
Green Green List (high evidence)	MPDU1 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Congenital disorder of glycosylation, type If 609180 Lec35 deficiency (Disorders of multiple glycosylation and other glycosylation pathways) Tags
Green Green List (high evidence)	MPI Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ib, OMIM:602579 MPI-CDG, MONDO:0011257 Phosphomannose isomerase deficiency (Disorders of protein N-glycosylation) Tags
Green Green List (high evidence)	MPV17 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial DNA Depletion Syndrome Disorders of mitochondrial DNA maintenance and integrity Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 -3 Tags
Green Green List (high evidence)	MRPL3 Likely inborn error of metabolism - targeted testing not possible v4.137	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 9 614582 Tags
Green Green List (high evidence)	MRPL44 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ?Combined oxidative phosphorylation deficiency 16, 615395 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Green Green List (high evidence)	MRPS2 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 36 617950 No OMIM phenotype Tags
Green Green List (high evidence)	MRPS22 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 5, 611719 Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Green Green List (high evidence)	MRPS34 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Expert list Phenotypes Combined oxidative phosphorylation deficiency 32 617664 Tags
Green Green List (high evidence)	MSMO1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Sterol-C4-methyl oxidase deficiency (Disorders of sterol biosynthesis) Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793 Tags
Green Green List (high evidence)	MSTO1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Myopathy, mitochondrial, and ataxia OMIM:617675 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714 Tags Q1_24_MOI
Green Green List (high evidence)	MT-ATP6 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked
Green Green List (high evidence)	MT-ATP8 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY CARDIOMYOPATHY, INFANTILE HYPERTROPHIC BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO Tags gene-checked
Green Green List (high evidence)	MT-CO1 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes CYTOCHROME c OXIDASE I DEFICIENCY SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC LEBER OPTIC ATROPHY MYOGLOBINURIA, RECURRENT CYTOCHROME c OXIDASE DEFICIENCY Tags gene-checked
Green Green List (high evidence)	MT-CO2 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes CYTOCHROME c OXIDASE DEFICIENCY Tags gene-checked
Green Green List (high evidence)	MT-CO3 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes LEBER OPTIC ATROPHY SEIZURES AND LACTIC ACIDOSIS MITOCHONDRIAL COMPLEX IV DEFICIENCY Tags gene-checked
Green Green List (high evidence)	MT-CYB Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes ENCEPHALOMYOPATHY, MITOCHONDRIAL CARDIOMYOPATHY, INFANTILE HISTIOCYTOID MULTISYSTEM DISORDER EXERCISE INTOLERANCE PARKINSONISM/MELAS OVERLAP SYNDROME EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA LEBER OPTIC ATROPHY Tags gene-checked
Green Green List (high evidence)	MT-ND1 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MELAS SYNDROME MITOCHONDRIAL COMPLEX I DEFICIENCY LEBER OPTIC ATROPHY DYSTONIA, ADULT-ONSET DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL SUDDEN INFANT DEATH SYNDROME Tags gene-checked
Green Green List (high evidence)	MT-ND2 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY LEBER OPTIC ATROPHY LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY Tags gene-checked
Green Green List (high evidence)	MT-ND3 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY Tags gene-checked
Green Green List (high evidence)	MT-ND4 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MELAS SYNDROME LEBER OPTIC ATROPHY AND DYSTONIA LEBER OPTIC ATROPHY MITOCHONDRIAL COMPLEX I DEFICIENCY Tags gene-checked
Green Green List (high evidence)	MT-ND4L Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes LEBER OPTIC ATROPHY Tags gene-checked
Green Green List (high evidence)	MT-ND5 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MELAS SYNDROME LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY LEBER OPTIC ATROPHY MERRF SYNDROME Tags gene-checked
Green Green List (high evidence)	MT-ND6 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MELAS SYNDROME STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA LEBER OPTIC ATROPHY AND DYSTONIA LEBER OPTIC ATROPHY LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY Tags gene-checked
Green Green List (high evidence)	MT-RNR1 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes DEAFNESS, AMINOGLYCOSIDE-INDUCED DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL AUDITORY NEUROPATHY CARDIOMYOPATHY, RESTRICTIVE Tags gene-checked
Green Green List (high evidence)	MT-TA Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MITOCHONDRIAL MYOPATHY MYOTONIC DYSTROPHY-LIKE MYOPATHY Tags gene-checked
Green Green List (high evidence)	MT-TC Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MELAS SYNDROME DYSTONIA, MITOCHONDRIAL Tags gene-checked
Green Green List (high evidence)	MT-TD Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MITOCHONDRIAL MYOPATHY, ISOLATED Tags gene-checked
Green Green List (high evidence)	MT-TE Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS DIABETES AND DEAFNESS, MATERNALLY INHERITED MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT Tags gene-checked
Green Green List (high evidence)	MT-TF Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked
Green Green List (high evidence)	MT-TG Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked
Green Green List (high evidence)	MT-TH Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked
Green Green List (high evidence)	MT-TI Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked
Green Green List (high evidence)	MT-TK Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked
Green Green List (high evidence)	MT-TL1 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked
Green Green List (high evidence)	MT-TL2 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked
Green Green List (high evidence)	MT-TM Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked
Green Green List (high evidence)	MT-TN Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked
Green Green List (high evidence)	MT-TP Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked
Green Green List (high evidence)	MT-TQ Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked
Green Green List (high evidence)	MT-TR Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked
Green Green List (high evidence)	MT-TS1 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked
Green Green List (high evidence)	MT-TS2 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked
Green Green List (high evidence)	MT-TV Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked
Green Green List (high evidence)	MT-TW Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked
Green Green List (high evidence)	MT-TY Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked
Green Green List (high evidence)	MTFMT Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 15 OMIM:614947 combined oxidative phosphorylation defect type 15 MONDO:0013987 Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248 mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032631 Tags
Green Green List (high evidence)	MTHFR Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Homocystinuria due to MTHFR deficiency, 236250 seizures Tags
Green Green List (high evidence)	MTHFR Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Methylenetetrahydrofolate reductase deficiency (Disorders of folate metabolism and transport) Homocystinuria due to MTHFR deficiency Tags
Green Green List (high evidence)	MTHFS Early onset or syndromic epilepsy v4.196	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367 Tags
Green Green List (high evidence)	MTO1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 10, 614702 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) infantile hypertrophic cardiomyopathy and lactic acidosis. Tags
Green Green List (high evidence)	MTOR Early onset or syndromic epilepsy v4.196	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Expert Review Green Other Expert Review Green Phenotypes Smith-Kingsmore syndrome, OMIM:616638 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, MONDO:0014716 Focal cortical dysplasia, type II, somatic, OMIM:607341isolated focal cortical dysplasia type II, MONDO:0011818 Tags
Green Green List (high evidence)	MTPAP Likely inborn error of metabolism - targeted testing not possible v4.137	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes ?Spastic ataxia 4, autosomal recessive 613672 Tags
Green Green List (high evidence)	MTR Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Homocystinuria-megaloblastic anemia, cblG complementation type Tags
Green Green List (high evidence)	MTRR Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Homocystinuria-megaloblastic anemia, cbl E type Tags
Green Green List (high evidence)	MTTP Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Abetalipoproteinemia, 200100 (ACANTHOCYTOSIS, BASSEN-KORNZWEIG SYNDROME, MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY, MTP DEFICIENCY) Familial abetalipoproteinaemia (Inherited hypolipidaemias) Tags
Green Green List (high evidence)	MUT Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS 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 Green List (high evidence)	MVK Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hyper-IgD syndrome, OMIM:260920 Mevalonic aciduria, OMIM:610377 Porokeratosis 3, multiple types, OMIM:175900 Tags
Green Green List (high evidence)	NACC1 Early onset or syndromic epilepsy v4.196	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Other Expert Review Green Phenotypes Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393 Tags
Green Green List (high evidence)	NADK2 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes 2,4-dienoyl-CoA reductase deficiency, OMIM:616034 Tags
Green Green List (high evidence)	NAGA Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Schindler disease, type I, 609241 seizures Tags
Green Green List (high evidence)	NAGA Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Kanzaki disease Tags
Green Green List (high evidence)	NAGLU Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS 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 Green List (high evidence)	NAGS Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes N-Acetylglutamate synthetase deficiency (Urea cycle disorders and inherited hyperammonaemias) N-acetylglutamate synthase deficiency Tags
Green Green List (high evidence)	NAPB Early onset or syndromic epilepsy v4.196	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Developmental and epileptic encephalopathy 107, OMIM:620033 Tags
Green Green List (high evidence)	NARS Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive, OMIM:619091 Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant, OMIM:619092 Tags new-gene-name
Green Green List (high evidence)	NARS2 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Combined oxidative phosphorylation deficiency 24 Tags
Green Green List (high evidence)	NARS2 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 24, 616239 seizures Tags
Green Green List (high evidence)	NAXD Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, OMIM:618321 Tags
Green Green List (high evidence)	NAXE Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, OMIM:617186 Tags
Green Green List (high evidence)	NBEA Early onset or syndromic epilepsy v4.196	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Expert list Phenotypes Global developmental delay Intellectual disability Seizures No OMIM number Tags
Green Green List (high evidence)	NDE1 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Lissencephaly 4 (with microcephaly), 614019 Tags
Green Green List (high evidence)	NDUFA1 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, 252010 Tags
Green Green List (high evidence)	NDUFA1 Likely inborn error of metabolism - targeted testing not possible v4.137	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 London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Isolated complex I deficiency Tags
Green Green List (high evidence)	NDUFA10 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial Diseases Isolated complex I deficiency Leigh syndrome, 256000 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFA10 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Leigh syndrome, 256000 Tags
Green Green List (high evidence)	NDUFA11 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFA12 Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 Tags
Green Green List (high evidence)	NDUFA13 Likely inborn error of metabolism - targeted testing not possible v4.137	6 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 28, OMIM:618249 Tags
Green Green List (high evidence)	NDUFA2 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000 Mitochondrial Diseases Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFA4 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Isolated complex IV deficiency No OMIM phenotype Tags
Green Green List (high evidence)	NDUFA6 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 33, OMIM:618253 Tags
Green Green List (high evidence)	NDUFA8 Likely inborn error of metabolism - targeted testing not possible v4.137	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 37, OMIM:619272 Tags
Green Green List (high evidence)	NDUFA9 Likely inborn error of metabolism - targeted testing not possible v4.137	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Leigh syndrome due to mitochondrial complex I deficiency, 256000 -3 Isolated complex I deficiency Mitochondrial complex I deficiency, nuclear type 26, 618247 Leigh syndrome due to mitochondrial complex I deficiency, 256000 Tags
Green Green List (high evidence)	NDUFAF1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFAF2 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex I deficiency, 252010 Isolated complex I deficiency Leigh syndrome, 256000 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFAF2 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, 252010 Tags
Green Green List (high evidence)	NDUFAF3 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFAF4 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFAF5 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex 1 deficiency 252010 Tags
Green Green List (high evidence)	NDUFAF5 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex 1 deficiency, 252010 Mitochondrial Diseases Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Isolated complex I deficiency Tags
Green Green List (high evidence)	NDUFAF6 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Isolated complex I deficiency Tags
Green Green List (high evidence)	NDUFAF8 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776 Tags gene-checked
Green Green List (high evidence)	NDUFB10 Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 35, OMIM:619003 Tags
Green Green List (high evidence)	NDUFB11 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes Linear skin defects with multiple congenital anomalies 3 microphthalmia with linear skin defects syndrome histiocytoid cardiomyopathy Isolated complex I deficiency Tags
Green Green List (high evidence)	NDUFB3 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246 Tags
Green Green List (high evidence)	NDUFB8 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 32, 618252 No OMIM phenotype Isolated complex I deficiency Tags
Green Green List (high evidence)	NDUFC2 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex I deficiency, nuclear type 36 OMIM:619170 Tags
Green Green List (high evidence)	NDUFS1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Isolated complex I deficiency Tags
Green Green List (high evidence)	NDUFS2 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFS3 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial Diseases Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010 Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFS4 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Leigh syndrome, 256000 Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFS4 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Leigh syndrome 256000 Mitochondrial complex I deficiency 252010 Tags
Green Green List (high evidence)	NDUFS6 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial Diseases Isolated complex I deficiency Complex I, mitochondrial respiratory chain, deficiency of, 252010 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFS7 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial Diseases Isolated complex I deficiency Leigh syndrome, 256000 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFS8 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000 Mitochondrial Diseases Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFS8 Early onset or syndromic epilepsy v4.196	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 2, 618222 Leigh syndrome due to mitochondrial complex I deficiency Tags
Green Green List (high evidence)	NDUFV1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFV1 Early onset or syndromic epilepsy v4.196	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency 252010 Tags
Green Green List (high evidence)	NDUFV2 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Tags
Green Green List (high evidence)	NEDD4L Early onset or syndromic epilepsy v4.196	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Phenotypes Periventricular nodular heterotopia 7, OMIM:617201 periventricular nodular heterotopia 7, MONDO:0014966 Tags
Green Green List (high evidence)	NEU1 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Sialidosis type II Sialidosis, type I Sialidosis (Oligosaccharidoses) Mucolipidosis, Type I Sialidosis Tags
Green Green List (high evidence)	NEUROD2 Early onset or syndromic epilepsy v4.196	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Expert list Phenotypes Developmental and epileptic encephalopathy 72, OMIM:618374 Tags
Green Green List (high evidence)	NEXMIF Early onset or syndromic epilepsy v4.196	8 reviews 5 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Expert Review Green Expert Review Phenotypes Mental retardation, X-linked 98, 300912 Tags
Green Green List (high evidence)	NFS1 Likely inborn error of metabolism - targeted testing not possible v4.137	6 reviews 3 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 52, OMIM:619386 Tags treatable
Green Green List (high evidence)	NFU1 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711 Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green Green List (high evidence)	NGLY1 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of deglycosylation 615273 Tags
Green Green List (high evidence)	NGLY1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes OrphaNet: ORPHA404454 Congenital disorder of deglycosylation 615273 Alacrimia-choreoathetosis-liver dysfunction syndrome OMIM:615273 Tags
Green Green List (high evidence)	NHLRC1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Epilepsy, progressive myoclonic 2B (Lafora) Tags
Green Green List (high evidence)	NHLRC1 Early onset or syndromic epilepsy v4.196	8 reviews 2 green 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Emory Genetics Laboratory Phenotypes Epilepsy, progressive myoclonic 2B (Lafora) 254780 Tags
Green Green List (high evidence)	NNT Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736 Tags
Green Green List (high evidence)	NPC1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Niemann-Pick disease, type C1 Tags
Green Green List (high evidence)	NPC2 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Niemann-Pick disease type C2, 607625 Tags
Green Green List (high evidence)	NPRL2 Early onset or syndromic epilepsy v4.196	9 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Expert Review Phenotypes Epilepsy, familial focal, with variable foci 2, OMIM:617116 Tags
Green Green List (high evidence)	NPRL3 Early onset or syndromic epilepsy v4.196	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, familial focal, with variable foci 3, 617118 Tags
Green Green List (high evidence)	NR4A2 Early onset or syndromic epilepsy v4.196	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, OMIM:619911 Tags
Green Green List (high evidence)	NRROS Early onset or syndromic epilepsy v4.196	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Seizures, early-onset, with neurodegeneration and brain calcification 618875 Tags
Green Green List (high evidence)	NRXN1 Early onset or syndromic epilepsy v4.196	9 reviews 2 green 4 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services UKGTN Expert Phenotypes Pitt-Hopkins-like syndrome 2, OMIM:614325 (AR) Complex neurodevelopmental disorder (AD) Tags
Green Green List (high evidence)	NSD1 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Sotos syndrome 1, 117550 Tags
Green Green List (high evidence)	NSDHL Early onset or syndromic epilepsy v4.196	4 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes CK syndrome 300831 Tags
Green Green List (high evidence)	NSDHL Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources London North GLH NHS GMS Expert Review Green Phenotypes Congenital hemidysplasia with ichtyosiform erythroderma and limb defects (Disorders of sterol biosynthesis) CHILD syndrome 308050 XLD CK syndrome 300831 XLR Tags
Green Green List (high evidence)	NSRP1 Early onset or syndromic epilepsy v4.196	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes NSRP1-associated developmental delay, epilepsy and microcephaly Tags
Green Green List (high evidence)	NSUN3 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Combined oxidative phosphorylation deficiency 48, OMIM:619012 Tags
Green Green List (high evidence)	NT5C3A Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Anemia, hemolytic, due to UMPH1 deficiency, 266120 Uridine-5 -monophosphate hydrolase superactivity (Disorders of pyrimidine metabolism) Tags
Green Green List (high evidence)	NTRK2 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 58 (MIM 617830) Obesity, hyperphagia, and developmental delay (MIM 613886) Tags
Green Green List (high evidence)	NUBPL Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NUP214 Early onset or syndromic epilepsy v4.196	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426 encephalopathy, acute, infection-induced, susceptibility to, 9, MONDO:0032742 Tags
Green Green List (high evidence)	NUS1 Early onset or syndromic epilepsy v4.196	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Expert Review Phenotypes Mental retardation, autosomal dominant 55, with seizures, OMIM:617831 Congenital disorder of glycosylation, type 1aa, OMIM:617082 Tags
Green Green List (high evidence)	OAT Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Ornithine aminotransferase deficiency (Disorders of ornithine or proline metabolism) Gyrate atrophy of choroid and retina with or without ornithinemia Tags
Green Green List (high evidence)	OCLN Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Pseudo-TORCH syndrome 1 251290 Tags
Green Green List (high evidence)	OCRL Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London North GLH NHS GMS Phenotypes Dent disease 2, OMIM:300555 Lowe syndrome, OMIM:309000 Tags
Green Green List (high evidence)	OGDH Likely inborn error of metabolism - targeted testing not possible v4.137	5 reviews 3 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Alpha-ketoglutarate dehydrogenase deficiency, OMIM:203740 oxoglutaricaciduria, MONDO:0008759 Tags
Green Green List (high evidence)	OGDHL Early onset or syndromic epilepsy v4.196	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Yoon-Bellen neurodevelopmental syndrome, OMIM:619701 Tags
Green Green List (high evidence)	OPA1 Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Optic atrophy 1, OMIM:165500 Optic atrophy plus syndrome, OMIM:125250 Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896 Behr syndrome, OMIM:210000 Tags
Green Green List (high evidence)	OPA3 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Methylglutaconic aciduria type III, Costeff syndrome (Organic acidurias) 3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300 Tags
Green Green List (high evidence)	OPHN1 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance 300486 MENTAL RETARDATION X-LINKED OPHN1-RELATED Tags
Green Green List (high evidence)	OTC Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources London North GLH NHS GMS Expert Review Green Phenotypes Ornithine transcarbamylase deficiency, 311250 Ornithine transcarbamylase deficiency (Urea cycle disorders and inherited hyperammonaemias) Tags
Green Green List (high evidence)	OTUD6B Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Expert Review Phenotypes Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 617452 Tags
Green Green List (high evidence)	OTUD7A Early onset or syndromic epilepsy v4.196	5 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes developmental and epileptic encephalopathy, MONDO:0100062 Tags gene-checked
Green Green List (high evidence)	OXCT1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes Succinyl CoA:3-oxoacid CoA transferase deficiency severe ketosis on fasting often ketotic in fed state no hepatomegaly Succinyl-CoA:3-Oxoacid-CoA transferase (SCOT) deficiency (Disorders of ketone body metabolism) Succinyl CoA:3-oxoacid CoA transferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green Green List (high evidence)	OXR1 Early onset or syndromic epilepsy v4.196	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay 213000 Tags
Green Green List (high evidence)	P4HTM Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Expert Review Green Expert Review Green Expert Review Literature Phenotypes Hypotonia, hyperventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, 618493 Seizures Intellectual disability Global developmental delay Tags
Green Green List (high evidence)	PACS1 Early onset or syndromic epilepsy v4.196	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Literature Phenotypes Schuurs-Hoeijmakers syndrome, 615009 Tags
Green Green List (high evidence)	PACS2 Early onset or syndromic epilepsy v4.196	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 66, 618067 Tags
Green Green List (high evidence)	PAFAH1B1 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Lissencephaly 1, OMIM:607432 Subcortical laminar heterotopia, OMIM:607432 Tags
Green Green List (high evidence)	PAH Early onset or syndromic epilepsy v4.196	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Phenylketonuria 261600 Tags
Green Green List (high evidence)	PAH Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Phenylketonuria Tags
Green Green List (high evidence)	PAK1 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Literature Phenotypes Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158) Tags
Green Green List (high evidence)	PANK2 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes HARP syndrome 607236 Neurodegeneration with brain iron accumulation 234200 Tags
Green Green List (high evidence)	PARS2 Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Epileptic encephalopathy, early infantile, 75, 618437Alpers syndrome. Epileptic encephalopathy, early infantile, 75, 618437 Alpers syndrome Tags
Green Green List (high evidence)	PARS2 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Other Phenotypes Epileptic encephalopathy, early infantile, 75, 618437 Tags
Green Green List (high evidence)	PC Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Pyruvate carboxylase deficiency, OMIM:266150 Tags
Green Green List (high evidence)	PCBD1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hyperphenylalaninemia, BH4-deficient, D Tags
Green Green List (high evidence)	PCCA Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS 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 Green List (high evidence)	PCCA Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Propionicacidemia 606054 Tags
Green Green List (high evidence)	PCCB Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections) Propionic acidemia Propionicacidemia 606054 Propionicacidemia Propionic aciduria (Organic acidurias) Tags
Green Green List (high evidence)	PCCB Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Propionicacidemia 606054 Tags
Green Green List (high evidence)	PCDH12 Early onset or syndromic epilepsy v4.196	6 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Expert Review Expert Review Phenotypes Microcephaly, seizures, spasticity, and brain calcification 251280 Tags
Green Green List (high evidence)	PCDH19 Early onset or syndromic epilepsy v4.196	8 reviews 5 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services UKGTN Radboud University Medical Center, Nijmegen Expert Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 9 Tags
Green Green List (high evidence)	PCDHGC4 Early onset or syndromic epilepsy v4.196	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Neurodevelopmental disorder with poor growth and skeletal anomalies, OMIM:619880 Tags
Green Green List (high evidence)	PCK1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic 261680 Tags
Green Green List (high evidence)	PCSK9 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hypercholesterolemia, familial, 3 603776 {Low density lipoprotein cholesterol level QTL 1} 603776 Tags
Green Green List (high evidence)	PCYT2 Early onset or syndromic epilepsy v4.196	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Global developmental delay Developmental regression Intellectual disability Spastic paraparesis Seizures Cerebral atrophy Cerebellar atrophy Spastic paraplegia 82, autosomal recessive, 618770 Tags
Green Green List (high evidence)	PDHA1 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Pyruvate dehydrogenase E1-alpha deficiency 312170 X-LINKED LEIGH SYNDROME PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES INTELLECTUAL DISABILTIY Tags
Green Green List (high evidence)	PDHA1 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources London North GLH NHS GMS Expert Review Green Phenotypes Pyruvate dehydrogenase E1? subunit deficiency (Disorders of pyruvate metabolism) Leigh syndrome, X-linked, 308930 Pyruvate dehydrogenase E1-alpha deficiency, 312170 Tags
Green Green List (high evidence)	PDHB Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111 Tags
Green Green List (high evidence)	PDHX Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Lacticacidemia due to PDX1 deficiency, OMIM:245349 Tags
Green Green List (high evidence)	PDHX Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Lacticacidemia due to PDX1 deficiency, OMIM:245349 Tags
Green Green List (high evidence)	PDK3 Likely inborn error of metabolism - targeted testing not possible v4.137	6 reviews 2 green 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green London North GLH NHS GMS Phenotypes ?Charcot-Marie-Tooth disease, X-linked dominant, 6 300905 Tags
Green Green List (high evidence)	PDP1 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Pyruvate dehydrogenase phosphatase deficiency, 608782 Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) Tags
Green Green List (high evidence)	PDSS1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 2, 614651 Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of ubiquinone metabolism and biosynthesis Tags
Green Green List (high evidence)	PDSS2 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 3, 614652 Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of ubiquinone metabolism and biosynthesis Tags
Green Green List (high evidence)	PEPD Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Prolidase deficiency 170100 Tags
Green Green List (high evidence)	PET100 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, 220110 seizures Tags founder-effect
Green Green List (high evidence)	PET100 Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leigh syndrome Mitochondrial complex IV deficiency, 220110 Isolated complex IV deficiency Tags
Green Green List (high evidence)	PEX1 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 1B (NALD/IRD) 601539 Peroxisome biogenesis disorder 1A (Zellweger) 214100 Tags
Green Green List (high evidence)	PEX10 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 6A (Zellweger) 614870 Peroxisome biogenesis disorder 6B 614871 Tags
Green Green List (high evidence)	PEX11B Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Peroxisome biogenesis disorder 14B Tags
Green Green List (high evidence)	PEX12 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 3A (Zellweger), 614859 Peroxisome biogenesis disorder 3B Tags
Green Green List (high evidence)	PEX13 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 11A (Zellweger) Tags
Green Green List (high evidence)	PEX14 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 13A (Zellweger) Tags
Green Green List (high evidence)	PEX16 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS 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 Green List (high evidence)	PEX19 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 12A (Zellweger) Tags
Green Green List (high evidence)	PEX2 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 5A (Zellweger), 614866 Peroxisome biogenesis disorder 5B, 614867 Tags
Green Green List (high evidence)	PEX26 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 7A (Zellweger) 61487 Peroxisome biogenesis disorder 7B 614873 Tags
Green Green List (high evidence)	PEX3 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 10A (Zellweger) 614882 Tags
Green Green List (high evidence)	PEX5 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 2A (Zellweger) Tags
Green Green List (high evidence)	PEX6 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Peroxisome biogenesis disorder 4A (Zellweger) OMIM:614862 peroxisome biogenesis disorder 4A (Zellweger) MONDO:0013930 Peroxisome biogenesis disorder 4B OMIM:614863 peroxisome biogenesis disorder 4B MONDO:0013931 Tags
Green Green List (high evidence)	PEX7 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Peroxisome biogenesis disorder 9B 614879 Rhizomelic chondrodysplasia punctata, type 1 Rhizomelic chondrodysplasia punctata type 1 (Peroxisomal disorders) Tags
Green Green List (high evidence)	PFKM Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycogen storage disease VII Tags
Green Green List (high evidence)	PGAM2 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glycogen storage disease X 261670 Tags
Green Green List (high evidence)	PGAP2 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hyperphosphatasia with mental retardation syndrome 3 614207 PGAP2-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Tags
Green Green List (high evidence)	PGAP3 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperphosphatasia with mental retardation syndrome 4 Tags
Green Green List (high evidence)	PGK1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources London North GLH NHS GMS Expert Review Green Phenotypes Phosphoglycerate kinase 1 deficiency Tags
Green Green List (high evidence)	PGM1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycogen Storage Disease Congenital disorder of deglycosylation 615273 Glycogen storage disease type XIV (Glycogen storage disorders) Congenital disorder of glycosylation, type It, 614921 Glycogen Storage Disorders- Muscle Glycogen Storage Disease Type XIV Glycogen storage disease XIV, 612934 Tags
Green Green List (high evidence)	PGM2L1 Early onset or syndromic epilepsy v4.196	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191 Tags
Green Green List (high evidence)	PGM3 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 23 Tags
Green Green List (high evidence)	PHACTR1 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Expert Review Literature Phenotypes Developmental and epileptic encephalopathy 70, OMIM:618298 Tags
Green Green List (high evidence)	PHGDH Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Phosphoglycerate dehydrogenase deficiency 601815 Tags
Green Green List (high evidence)	PHGDH Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Neu-Laxova syndrome 1 256520 Phosphoglycerate dehydrogenase deficiency 601815 Tags
Green Green List (high evidence)	PHKA1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources London North GLH NHS GMS Expert Review Green Phenotypes Muscle glycogenosis, 300559 Tags
Green Green List (high evidence)	PHKA2 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycogen Storage Disease Glycogen Storage Disorders- Liver Glycogen storage disease, type IXa2, 306000 Glycogen storage disease, type IXa1, 306000 hepatomegaly and mild hypoglycaemia Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency (Glycogen storage disorders) Tags
Green Green List (high evidence)	PHKB Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes hepatomegaly and variable myopathy Glycogen Storage Disorders- Liver Glycogen Storage Disorders- Muscle Glycogen Storage Disease Glycogen storage disease type IX Hepatic and muscle phosphorylase kinase deficiency (Glycogen storage disorders) Tags
Green Green List (high evidence)	PHKG2 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes hepatomegaly and variable myopathy Glycogen Storage Disorders- Liver Glycogen Storage Disease Glycogen storage disease IXc, 613027 Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency with cirrhosis (Glycogen storage disorders) Cirrhosis due to liver phosphorylase kinase deficiency Tags
Green Green List (high evidence)	PHYH Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Refsum disease, 266500 Refsum disease (Disorders of peroxisomal alpha-, beta and omega-oxidation) Tags
Green Green List (high evidence)	PIDD1 Early onset or syndromic epilepsy v4.196	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Other Literature Phenotypes Global developmental delay Intellectual disability Seizures Autism Behavioral abnormality Psychosis Pachygyria Lissencephaly Abnormality of the corpus callosum Tags
Green Green List (high evidence)	PIGA Early onset or syndromic epilepsy v4.196	8 reviews 6 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Expert Review Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 Tags Skewed X-inactivation
Green Green List (high evidence)	PIGA Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources London North GLH NHS GMS Expert Review Green Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 2 300868 PIGA-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Tags Skewed X-inactivation
Green Green List (high evidence)	PIGB Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 80, OMIM:618580 Tags
Green Green List (high evidence)	PIGC Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Glycosylphosphatidylinositol biosynthesis defect 16, OMIM:617816 Tags
Green Green List (high evidence)	PIGG Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Expert Review Literature Phenotypes Mental retardation, autosomal recessive 53 616917 Tags
Green Green List (high evidence)	PIGH Early onset or syndromic epilepsy v4.196	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Literature Phenotypes Glycosylphosphatidylinositol biosynthesis defect 17, 618010 epilepsy febrile seizures Tags
Green Green List (high evidence)	PIGK Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures OMIM:618879 Tags
Green Green List (high evidence)	PIGL Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes PIGL-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) CHIME syndrome 280000 Tags
Green Green List (high evidence)	PIGN Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes PIGN-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Multiple congenital anomalies-hypotonia-seizures syndrome 1 Tags
Green Green List (high evidence)	PIGN Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Expert Review Green Expert Review Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 1 614080 Tags
Green Green List (high evidence)	PIGO Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hyperphosphatasia (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Hyperphosphatasia with mental retardation syndrome 2 614749 Tags
Green Green List (high evidence)	PIGO Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperphosphatasia with mental retardation syndrome 2, 614749 Tags
Green Green List (high evidence)	PIGP Early onset or syndromic epilepsy v4.196	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 55, OMIM:617599 Tags
Green Green List (high evidence)	PIGQ Early onset or syndromic epilepsy v4.196	12 reviews 2 green 5 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Expert Review Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome-4, OMIM:618548 Tags
Green Green List (high evidence)	PIGS Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Glycosylphosphatidylinositol biosynthesis defect 18 618143 Tags
Green Green List (high evidence)	PIGT Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 3 Tags
Green Green List (high evidence)	PIGT Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Literature Expert Review Green Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 3 Tags
Green Green List (high evidence)	PIGU Early onset or syndromic epilepsy v4.196	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis, OMIM:618590 Tags missense
Green Green List (high evidence)	PIGV Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hyperphosphatasia (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Hyperphosphatasia with mental retardation syndrome 1 239300 (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Tags
Green Green List (high evidence)	PIGW Early onset or syndromic epilepsy v4.196	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycosylphosphatidylinositol biosynthesis defect 11, 616025 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5 Tags
Green Green List (high evidence)	PIK3R2 Early onset or syndromic epilepsy v4.196	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387 Tags
Green Green List (high evidence)	PINK1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Parkinson disease 6, early onset 605909 Tags
Green Green List (high evidence)	PLA2G6 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list London North GLH NHS GMS Expert Review Green Phenotypes Infantile neuroaxonal dystrophy 1 Tags
Green Green List (high evidence)	PLAA Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 617527 Lethal Infantile Epileptic Encephalopathy Tags
Green Green List (high evidence)	PLCB1 Early onset or syndromic epilepsy v4.196	7 reviews 5 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Early Infantile Epileptic Encephalopathy, Autosomal Recessive Epileptic encephalopathy, early infantile, 12 Tags
Green Green List (high evidence)	PLK1 Early onset or syndromic epilepsy v4.196	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes developmental and epileptic encephalopathy, MONDO:0100062 Tags gene-checked
Green Green List (high evidence)	PLPBP Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Literature Expert Review Green Phenotypes Epilepsy, early-onset, vitamin B6-dependent, 617290 Tags
Green Green List (high evidence)	PLXNA1 Early onset or syndromic epilepsy v4.196	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes developmental and epileptic encephalopathy, MONDO:0100062 Tags
Green Green List (high evidence)	PMM2 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ia 212065 Tags
Green Green List (high evidence)	PMM2 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Phosphomannomutase 2 deficiency (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type Ia 212065 Tags
Green Green List (high evidence)	PMPCA Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes slowly progressive cerebellar ataxia non-progressive cerebellar ataxia Tags
Green Green List (high evidence)	PMPCB Early onset or syndromic epilepsy v4.196	4 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954 multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785 Tags
Green Green List (high evidence)	PMPCB Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Phenotypes Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954 multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785 Tags
Green Green List (high evidence)	PNKP Early onset or syndromic epilepsy v4.196	7 reviews 5 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Expert Expert Review Green Phenotypes Early infantile epileptic encephalopathy type 10 Ataxia-oculomotor apraxia 4 Microcephaly, seizures, and developmental delay Tags
Green Green List (high evidence)	PNP Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Immunodeficiency due to purine nucleoside phosphorylase deficiency 613179 Tags
Green Green List (high evidence)	PNPLA2 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Phenotypes Neutral lipid storage disease with myopathy MIM#610717 Tags
Green Green List (high evidence)	PNPLA8 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes ?Mitochondrial myopathy with lactic acidosis, 251950 Tags
Green Green List (high evidence)	PNPO Early onset or syndromic epilepsy v4.196	8 reviews 2 green 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Expert Review Green Expert Phenotypes Pyridoxamine 5'-phosphate oxidase deficiency, 610090 Tags treatable
Green Green List (high evidence)	PNPO Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Pyridoxamine 5 -oxidase deficiency (Disorders of pyridoxine metabolism) Tags
Green Green List (high evidence)	PNPT1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 13, OMIM:614932 Deafness, autosomal recessive 70, OMIM:614934 Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Green Green List (high evidence)	PNPT1 Early onset or syndromic epilepsy v4.196	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 13, OMIM:614932 Combined oxidative phosphorylation defect type 13, MONDO:0013977 Tags
Green Green List (high evidence)	POLG Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Progressive external ophthalmoplegia, autosomal dominant, 157640 Progressive external ophthalmoplegia, autosomal recessive, 258450 Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 Mitochondrial DNA depletion syndrome 4A (Alpers type) Mitochondrial DNA Depletion Syndrome Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 Tags
Green Green List (high evidence)	POLG Early onset or syndromic epilepsy v4.196	8 reviews 6 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services UKGTN Expert Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 4A (Alpers type) Mitochondrial DNA depletion syndrome 4B (MNGIE type) Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) Tags
Green Green List (high evidence)	POLG2 Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528 Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131 Tags
Green Green List (high evidence)	POMGNT1 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 3 613157 Protein-O-mannose beta-1,2-N-acetyglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Retinitis pigmentosa 76 617123 Tags
Green Green List (high evidence)	POMGNT1 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280 Tags
Green Green List (high evidence)	POMGNT2 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 Tags
Green Green List (high evidence)	POMK Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12 OMIM:616094 limb-girdle muscular dystrophy due to POMK deficiencyMONDO:0014489 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 OMIM:615249 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 MONDO:0014101 Tags
Green Green List (high evidence)	POMT1 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308 Protein-O-mannosyltransferase 1 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670 Tags
Green Green List (high evidence)	POMT1 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670 Tags
Green Green List (high evidence)	POMT2 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158 Protein-O-mannosyltransferase 2 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156 Tags
Green Green List (high evidence)	POR Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750 Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571 Tags
Green Green List (high evidence)	PPA2 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Sudden cardiac failure, infantile, 617222 Sudden cardiac failure, alcohol-induced, 617223 Tags
Green Green List (high evidence)	PPFIBP1 Early onset or syndromic epilepsy v4.196	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024 Tags
Green Green List (high evidence)	PPIL1 Early onset or syndromic epilepsy v4.196	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly Tags
Green Green List (high evidence)	PPOX Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes Porphyria variegata 176200 Variegate porphyria (Acute neuropathic porphyrias) Tags
Green Green List (high evidence)	PPP2CA Early onset or syndromic epilepsy v4.196	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Expert Review Green Expert Review Green Expert Review Literature Phenotypes Abnormality of nervous system morphology Seizures Language impairment Muscular hypotonia Feeding difficulties Intellectual disability Neurodevelopmental disorder and language delay with or without structural brain abnormalities, 618354 Global developmental delay Tags
Green Green List (high evidence)	PPP3CA Early onset or syndromic epilepsy v4.196	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, infantile or early childhood, 1 617711 Tags
Green Green List (high evidence)	PPT1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 1 Tags
Green Green List (high evidence)	PPT1 Early onset or syndromic epilepsy v4.196	9 reviews 2 green 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Expert Phenotypes Ceroid lipofuscinosis, neuronal, 1 256730 Tags
Green Green List (high evidence)	PRICKLE1 Early onset or syndromic epilepsy v4.196	9 reviews 1 green 4 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Expert Phenotypes Epilepsy, progressive myoclonic 1B, OMIM:612437 Tags disputed Q1_24_demote_amber Q1_24_expert_review
Green Green List (high evidence)	PRKAG2 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Green Phenotypes Cardiomyopathy, hypertrophic 6, 600858 Glycogen storage disease of heart, lethal congenital, 261740 Wolff-Parkinson-White syndrome, 194200 Tags
Green Green List (high evidence)	PRMT7 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Expert Review Phenotypes Short stature, brachydactyly, intellectual developmental disability, and seizures 617157 Tags
Green Green List (high evidence)	PRODH Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hyperprolinemia, type I, OMIM:239500 hyperprolinemia type 1, MONDO:0009400 Tags
Green Green List (high evidence)	PRPF8 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes PRPF8-related developmental disorder (monoallelic) Retinitis pigmentosa 13, OMIM:600059 Tags
Green Green List (high evidence)	PRPS1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London North GLH NHS GMS Phenotypes Arts syndrome 301835 Charcot-Marie-Tooth disease, X-linked recessive, 5 311070 Deafness, X-linked 1 304500 Gout, PRPS-related 300661 Phosphoribosylpyrophosphate synthetase superactivity 300661 Tags
Green Green List (high evidence)	PRRT2 Early onset or syndromic epilepsy v4.196	8 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Expert Review Green UKGTN Expert Phenotypes Convulsions, familial infantile, with paroxysmal choreoathetosis Episodic kinesigenic dyskinesia 1 Seizures, benign familial infantile, 2 BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME Tags
Green Green List (high evidence)	PSAP Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined SAP deficiency 611721 Tags
Green Green List (high evidence)	PSAP Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS 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 Gaucher disease, atypical, 610539 Krabbe disease, atypical, 611722 Tags
Green Green List (high evidence)	PSAT1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes ?Phosphoserine aminotransferase deficiency 610992 Neu-Laxova syndrome 2 616038 Tags
Green Green List (high evidence)	PTEN Early onset or syndromic epilepsy v4.196	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Cowden syndrome 1 158350 Lhermitte-Duclos syndrome BANNAYAN-RILEY-RUVALCABA SYNDROME Tags
Green Green List (high evidence)	PTPN23 Early onset or syndromic epilepsy v4.196	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Rare severe autosomal-recessive developmental and epileptic encephalopathy Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity MIM#618890 Tags
Green Green List (high evidence)	PTS Early onset or syndromic epilepsy v4.196	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Hyperphenylalaninemia, BH4-deficient, A, 261640 Tags
Green Green List (high evidence)	PTS Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability 6-Pyruvoyl-tetrahydropterin synthase deficiency (Disorders of pterin metabolism) Hyperphenylalaninemia, BH4-deficient, A 261640 Tags
Green Green List (high evidence)	PUM1 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia 47 617931 Tags
Green Green List (high evidence)	PURA Early onset or syndromic epilepsy v4.196	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Expert Review Expert Review Green Phenotypes Mental retardation, autosomal dominant 31 INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	PUS1 Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Mitochondrial myopathy and sideroblastic anemia 1, 600462 Tags
Green Green List (high evidence)	PYCR1 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Cutis laxa, autosomal recessive, type IIB, 612940 Cutis laxa, autosomal recessive, type IIb/IIIb (Disorders of ornithine or proline metabolism) Cutis laxa, autosomal recessive, type IIIB, 614438 Tags
Green Green List (high evidence)	PYGL Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycogen Storage Disease Glycogen Storage Disorders- Liver Glycogen storage disease VI, 232700 hepatomegaly and mild hypoglycaemia Glycogen Storage Disease Type VI Glycogen storage disease type VI, Hers (Glycogen storage disorders) Tags
Green Green List (high evidence)	PYGM Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycogen storage disease type V, McArdle (Glycogen storage disorders) McArdle disease 232600 Tags
Green Green List (high evidence)	QARS Early onset or syndromic epilepsy v4.196	8 reviews 5 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Expert Review Expert Review Green Phenotypes Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy Tags new-gene-name
Green Green List (high evidence)	QDPR Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hyperphenylalaninemia, BH4-deficient, C Tags
Green Green List (high evidence)	QRSL1 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 40, OMIM:618835 Tags
Green Green List (high evidence)	RAB11B Early onset or syndromic epilepsy v4.196	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807 Tags
Green Green List (high evidence)	RAB18 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Warburg micro syndrome 3, 614222 Tags
Green Green List (high evidence)	RAC3 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, OMIM:618577 Tags
Green Green List (high evidence)	RALA Early onset or syndromic epilepsy v4.196	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Literature Phenotypes Global developmental delay Intellectual disability Seizures Abnormality of nervous system morphology Tags
Green Green List (high evidence)	RALGAPA1 Early onset or syndromic epilepsy v4.196	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes .Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation 618797 Tags
Green Green List (high evidence)	RARS Early onset or syndromic epilepsy v4.196	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leukodystrophy, hypomyelinating, 9, OMIM:616140 Tags new-gene-name
Green Green List (high evidence)	RARS2 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 6, 611523 Tags
Green Green List (high evidence)	RARS2 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Pontocerebellar hypoplasia, type 6, 611523 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green Green List (high evidence)	RBCK1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895 Tags
Green Green List (high evidence)	RBP4 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Retinol binding protein deficiency (Other disorders of vitamins and cofactors) Posterior segment abnormalities Tags
Green Green List (high evidence)	RELN Early onset or syndromic epilepsy v4.196	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Literature Phenotypes Lissencephaly 2 (Norman-Roberts type), OMIM:257320 {Epilepsy, familial temporal lobe, 7}, OMIM:616436 Tags missense
Green Green List (high evidence)	RFT1 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type In, 612015 Tags
Green Green List (high evidence)	RFT1 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Congenital disorder of glycosylation, type In 612015 Flippase of Man5GlcNAc2-PP-Dol deficiency (Disorders of protein N-glycosylation) Tags
Green Green List (high evidence)	RHEB Early onset or syndromic epilepsy v4.196	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Expert list Phenotypes Epilepsy and cortical dysplasia Tags gene-checked mosaicism somatic
Green Green List (high evidence)	RHOBTB2 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Literature Expert Review Phenotypes Epileptic encephalopathy, early infantile, 64 618004 Tags
Green Green List (high evidence)	RMND1 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Combined oxidative phosphorylation deficiency 11, 614922 Encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect Tags
Green Green List (high evidence)	RMND1 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 11, 614922 Tags
Green Green List (high evidence)	RNASEH1 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 Tags
Green Green List (high evidence)	RNASEH2A Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Aicardi-Goutieres syndrome 4, 610333 Tags
Green Green List (high evidence)	RNASEH2B Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Aicardi-Goutieres syndrome 2, OMIM:610181 Tags
Green Green List (high evidence)	RNASEH2C Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Aicardi-Goutieres syndrome 3, 610329 Tags
Green Green List (high evidence)	RNASET2 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy, cystic, without megalencephaly 612951 Tags
Green Green List (high evidence)	RNF113A Early onset or syndromic epilepsy v4.196	3 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes Trichothiodystrophy 5, nonphotosensitive, OMIM:300953 Tags Skewed X-inactivation
Green Green List (high evidence)	RNF13 Early onset or syndromic epilepsy v4.196	7 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Expert Review Expert Review Literature Phenotypes Developmental and epileptic encephalopathy 73, OMIM:618379 Tags
Green Green List (high evidence)	ROGDI Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Kohlschutter-Tonz syndrome 226750 Tags
Green Green List (high evidence)	RORA Early onset or syndromic epilepsy v4.196	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Literature Phenotypes Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 Tags
Green Green List (high evidence)	RORB Early onset or syndromic epilepsy v4.196	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes {Epilepsy, idiopathic generalized, susceptibility to, 15}, OMIM:618357 Tags
Green Green List (high evidence)	RPIA Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Expert Review Green Phenotypes Ribose-5-phosphate isomerase deficiency (Disorders of pentose metabolism) Ribose 5-phosphate isomerase deficiency, OMIM:608611 Tags
Green Green List (high evidence)	RPL10 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Mental retardation, X-linked, syndromic, 35 Tags
Green Green List (high evidence)	RRM2B Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 Mitochondrial DNA Depletion Syndrome (recessive) Mitochondrial Ribonucelotide Reductase subunit 2 deficiency (Disorders of purine metabolism) Progressive external ophthalmoplegia with mitochondrial DNA deletions (autosomal dominant) Disorders of mitochondrial DNA maintenance and integrity Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 Tags
Green Green List (high evidence)	RTN4IP1 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Expert Review Phenotypes Optic atrophy 10 with or without ataxia, mental retardation, and seizures 616732 Tags
Green Green List (high evidence)	RTN4IP1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Optic atrophy 10 with or without ataxia, mental retardation, and seizures 616732 Tags
Green Green List (high evidence)	RTTN Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Expert Review Phenotypes Microcephaly, short stature, and polymicrogyria with seizures 614833 Tags
Green Green List (high evidence)	SACS Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spastic ataxia, Charlevoix-Saguenay type Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) Tags
Green Green List (high evidence)	SAMHD1 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Aicardi-Goutieres syndrome 5, 612952 seizures Tags
Green Green List (high evidence)	SAMHD1 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes (Disorders of nucleotide metabolism, Aicardi-Goutieres Syndrome) AGS5 Aicardi-Goutieres syndrome-5 (AGS5) Aicardi-Goutieres syndrome 5, 612952 Tags
Green Green List (high evidence)	SAR1B Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Anderson disease (Inherited hypolipidaemias) CHYLOMICRON RETENTION DISEASE 246700 Tags
Green Green List (high evidence)	SARS Early onset or syndromic epilepsy v4.196	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709 Tags new-gene-name watchlist_moi
Green Green List (high evidence)	SARS2 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 Tags
Green Green List (high evidence)	SATB1 Early onset or syndromic epilepsy v4.196	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Literature Phenotypes Neurodevelopmental disorder Tags
Green Green List (high evidence)	SATB2 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes Glass syndrome, OMIM:612313 Tags
Green Green List (high evidence)	SC5D Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Lathosterolosis, 607330 Intellectual disability Cataracts Tags
Green Green List (high evidence)	SCAF4 Early onset or syndromic epilepsy v4.196	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Fliedner-Zweier syndrome, OMIM:620511 Tags
Green Green List (high evidence)	SCAMP5 Early onset or syndromic epilepsy v4.196	5 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Global developmental delay Intellectual disability Seizures Abnormality of nervous system morphology Behavioral abnormality Tags gene-checked
Green Green List (high evidence)	SCARB2 Early onset or syndromic epilepsy v4.196	7 reviews 1 green 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Expert Review Green Expert Phenotypes Epilepsy, progressive myoclonic 4, with or without renal failure 254900 Tags
Green Green List (high evidence)	SCN1A Early onset or syndromic epilepsy v4.196	8 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services UKGTN Expert Expert Review Green Phenotypes Epilepsy, generalized, with febrile seizures plus, type 2 604403 Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208 Febrile seizures, familial, 3A 604403 Migraine, familial hemiplegic, 3 609634 Tags
Green Green List (high evidence)	SCN1B Early onset or syndromic epilepsy v4.196	9 reviews 5 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Expert Expert Review Green Phenotypes Developmental and epileptic encephalopathy 52, OMIM:617350 (AR) Generalized epilepsy with febrile seizures plus, type 1, OMIM:604233 (AD) Tags
Green Green List (high evidence)	SCN2A Early onset or syndromic epilepsy v4.196	8 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Expert Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 11 613721 Seizures, benign familial infantile, 3 607745 Tags
Green Green List (high evidence)	SCN3A Early onset or syndromic epilepsy v4.196	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Literature Phenotypes Epilepsy, familial focal, with variable foci 4 617935 Epileptic encephalopathy, early infantile, 62 617938 Tags
Green Green List (high evidence)	SCN8A Early onset or syndromic epilepsy v4.196	11 reviews 7 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Expert Review Green Phenotypes Developmental and epileptic encephalopathy 13, OMIM:614558 Seizures, benign familial infantile, 5, OMIM:617080 ?Myoclonus, familial, 2, OMIM:618364 Tags for-review to_be_confirmed_NHSE
Green Green List (high evidence)	SCO1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048 Tags
Green Green List (high evidence)	SCO2 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS 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) Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 Myopia 6, 608908 Tags
Green Green List (high evidence)	SCP2 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Sterol carrier protein deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation) Tags
Green Green List (high evidence)	SDHA Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011 Neurodegeneration with ataxia and late-onset optic atrophy, OMIM:619259 Cardiomyopathy, dilated, 1GG, OMIM:613642 Tags
Green Green List (high evidence)	SDHAF1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial Diseases Mitochondrial complex II deficiency, 252011 Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Mitochondrial Respiratory Chain Complex II Deficiency Isolated complex II deficiency Tags
Green Green List (high evidence)	SDHB Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex II deficiency, nuclear type 4, OMIM:619224 Tags
Green Green List (high evidence)	SDHD Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Diseases Isolated complex II deficiency Tags
Green Green List (high evidence)	SEC23B Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Dyserythropoietic anemia, congenital, type II, OMIM:224100 COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies) Tags Q4_23_MOI
Green Green List (high evidence)	SEMA6B Early onset or syndromic epilepsy v4.196	6 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Epilepsy, progressive myoclonic, 11 OMIM:618876 Tags
Green Green List (high evidence)	SEPSECS Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia type 2D 613811 Tags
Green Green List (high evidence)	SERAC1 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739 Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Green Green List (high evidence)	SERPINI1 Early onset or syndromic epilepsy v4.196	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Encephalopathy, familial, with neuroserpin inclusion bodies 604218 Tags
Green Green List (high evidence)	SETBP1 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Schinzel-Giedion midface retraction syndrome 269150 Tags
Green Green List (high evidence)	SETD1A Early onset or syndromic epilepsy v4.196	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Epilepsy, early-onset, with or without developmental delay, 618832 Tags
Green Green List (high evidence)	SETD1B Early onset or syndromic epilepsy v4.196	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder with seizures and language delay, OMIM:619000 Intellectual developmental disorder with seizures and language delay, MONDO:0033559 Tags
Green Green List (high evidence)	SETD5 Early onset or syndromic epilepsy v4.196	10 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Expert Review Phenotypes Mental retardation, autosomal dominant 23, 615761 Tags
Green Green List (high evidence)	SETX Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002 Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433 Tags
Green Green List (high evidence)	SFXN4 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 18, 615578 Tags
Green Green List (high evidence)	SGSH Early onset or syndromic epilepsy v4.196	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Literature Phenotypes Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900 seizures Tags
Green Green List (high evidence)	SGSH Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mucopolysaccharidosis Type III Mucopolysaccharidosis, Type III Mucopolysaccharidosis Type IIIA MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses) MUCOPOLYSACCHARIDOSIS TYPE 3A Tags
Green Green List (high evidence)	SHMT2 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, OMIM:619121 Tags
Green Green List (high evidence)	SI Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY 222900 Disaccharide intolerance 1 (Other carbohydrate disorders) Tags
Green Green List (high evidence)	SIK1 Early onset or syndromic epilepsy v4.196	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Expert Review Expert Review Green Phenotypes NEONATAL EPILEPSY SPECTRUM Epileptic encephalopathy, early infantile, 30 Tags
Green Green List (high evidence)	SKIV2L Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Infantile enterocolitis & monogenic inflammatory bowel disease Trichohepatoenteric syndrome 2 (Other metabolic disorders) Tags new-gene-name
Green Green List (high evidence)	SLC12A3 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Gitelman syndrome, OMIM: 263800 Gitelman syndrome, MONDO:0009904 Tags monogenic-polygenic
Green Green List (high evidence)	SLC12A5 Early onset or syndromic epilepsy v4.196	8 reviews 6 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Expert Review Phenotypes epilepsy of infancy with migrating focal seizures (EIMFS) Epileptic encephalopathy, early infantile, 34, 616645 {Epilepsy, idiopathic generalized, susceptibility to, 14}, 616685 Tags
Green Green List (high evidence)	SLC13A5 Early onset or syndromic epilepsy v4.196	7 reviews 5 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Expert Review Green Expert Review Phenotypes Epileptic encephalopathy, early infantile, 25 Tags
Green Green List (high evidence)	SLC16A1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Erythrocyte lactate transporter defect, OMIM:245340 Hyperinsulinemic hypoglycemia, familial, 7, OMIM:610021 Monocarboxylate transporter 1 deficiency, OMIM:616095 Tags
Green Green List (high evidence)	SLC16A2 Early onset or syndromic epilepsy v4.196	8 reviews 6 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 Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services UKGTN Phenotypes Allan-Herndon-Dudley syndrome, OMIM:300523 Tags
Green Green List (high evidence)	SLC17A5 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Salla disease, OMIM:604369 Sialic acid storage disorder, infantile, OMIM:269920 Tags
Green Green List (high evidence)	SLC18A2 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism) Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism) (NO phenotype number in OMIM) Tags
Green Green List (high evidence)	SLC19A2 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Thiamine-responsive megaloblastic anemia syndrome, 249270 Thiamine-responsive megaloblastic anemia syndrome (Disorders of thiamine metabolism) Tags
Green Green List (high evidence)	SLC19A3 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Biotin-responsive basal ganglia disease (Disorders of thiamine metabolism) Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2),607483 Tags
Green Green List (high evidence)	SLC1A2 Early onset or syndromic epilepsy v4.196	5 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Literature Literature Phenotypes Epileptic encephalopathy, early infantile, 41, OMIM:617105 developmental and epileptic encephalopathy, 41, MONDO:0014916 Tags
Green Green List (high evidence)	SLC1A4 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Expert Review Phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 Tags
Green Green List (high evidence)	SLC22A5 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes Carnitine deficiency, systemic primary, OMIM:212140 systemic primary carnitine deficiency disease, MONDO:0008919 Tags
Green Green List (high evidence)	SLC25A1 Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 Disorders of mitochondrial protein transport Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism) Tags
Green Green List (high evidence)	SLC25A1 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Expert Review Phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria Tags
Green Green List (high evidence)	SLC25A12 Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Inherited white matter disorders Epileptic encephalopathy, early infantile, 39 612949 Hypomyelination, global cerebral, 612949 Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green Green List (high evidence)	SLC25A12 Early onset or syndromic epilepsy v4.196	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 39 612949 Tags
Green Green List (high evidence)	SLC25A13 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Citrullinemia, adult-onset type II 603471 Citrullinemia, adult-onset type II, 603471Citrullinemia, type II, neonatal-onset, 605814 Citrullinemia Type 2 (Urea cycle disorders and inherited hyperammonaemias) Tags
Green Green List (high evidence)	SLC25A15 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970 HHH syndrome (Urea cycle disorders and inherited hyperammonaemias) Tags
Green Green List (high evidence)	SLC25A19 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Microcephaly, Amish type, 607196 Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 Microcephaly, Amish type (Disorders of thiamine metabolism) Tags
Green Green List (high evidence)	SLC25A20 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes Carnitine-acylcarnitine translocase deficiency 212138 Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle) Tags
Green Green List (high evidence)	SLC25A22 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 3, 609304 Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green Green List (high evidence)	SLC25A22 Early onset or syndromic epilepsy v4.196	7 reviews 5 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Expert Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 3 Tags
Green Green List (high evidence)	SLC25A26 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 28 intra-mitochondrial methylation deficiency. Intra-mitochondrial Methylation Deficiency leading to Clinical findings ranging from neonatal mortality resulting from respiratory insufficiency and hydrops to childhood acute episodes of cardiopulmonary failure and slowly progressive muscle weakness Tags
Green Green List (high evidence)	SLC25A3 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial phosphate carrier deficiency, 610773 Mitochondrial phosphate carrier deficiency 610773 Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism) Tags
Green Green List (high evidence)	SLC25A32 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes ?Exercise intolerance, riboflavin-responsive Tags gene-checked
Green Green List (high evidence)	SLC25A38 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes severe, non-syndromic, microcytic/hypochromic sideroblastic anemia Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) nonsyndromic autosomal recessive congenital sideroblastic anemia congenital sideroblastic anemias Tags
Green Green List (high evidence)	SLC25A4 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Progressive External Ophthalmoplegia with Mitochondrial DNADeletions Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of mitochondrial DNA maintenance and integrity Disorders of mitochondrial protein transport Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283 Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418 Tags
Green Green List (high evidence)	SLC25A42 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 618416 mitochondrial myopathy Tags
Green Green List (high evidence)	SLC25A46 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes optic atrophy spectrum disorder Tags
Green Green List (high evidence)	SLC2A1 Early onset or syndromic epilepsy v4.196	9 reviews 5 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services UKGTN Expert Expert Review Green Phenotypes Dystonia 9 601042 AD GLUT1 deficiency syndrome 1, infantile onset, severe 606777 AD, AR GLUT1 deficiency syndrome 2, childhood onset 612126 AD Stomatin-deficient cryohydrocytosis with neurologic defects 608885 AD {Epilepsy, idiopathic generalized, susceptibility to, 12} 614847 Tags treatable
Green Green List (high evidence)	SLC2A1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability Early onset dystonia Cataracts Glucose transporter 1 deficiency (blood-brain barrier) (Disorders of glucose transport) Hereditary ataxia Epileptic encephalopathy Familial Genetic Generalised Epilepsies GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 GLUT1 deficiency syndrome 2, childhood onset, 612126 Tags
Green Green List (high evidence)	SLC2A2 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycogen storage disease type XI (Glycogen storage disorders) Glycogen Storage Disorders- Liver Glucose transporter 2 deficiency (Disorders of glucose transport) Fanconi-Bickel Syndrome renal falcon syndrome, aminoaciduria phosphaturia, small stature, malabsorption, hepatomegaly and nephromegaly. Tags
Green Green List (high evidence)	SLC30A10 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hypermanganesemia with dystonia 1, OMIM:613280 Tags
Green Green List (high evidence)	SLC32A1 Early onset or syndromic epilepsy v4.196	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes Developmental and epileptic encephalopathy 114, OMIM:620774 Generalized epilepsy with febrile seizures plus, type 12, OMIM:620755 Tags
Green Green List (high evidence)	SLC35A1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Congenital disorder of glycosylation, type IIf 603585 Congenital disorder of glycosylation, type Iif, 603585 CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) Tags
Green Green List (high evidence)	SLC35A2 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability Congenital disorder of glycosylation, type IIm 300896 SLC35A2-CDG (other congenital disorders of glycosylation) Tags
Green Green List (high evidence)	SLC35A2 Early onset or syndromic epilepsy v4.196	4 reviews 3 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 Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Other Phenotypes Congenital disorder of glycosylation, type IIm, 300896 (includes Epileptic encephalopathy) Epileptic encephalopathy, early infantile, 22 (EIEE22) early-onset epileptic encephalopathy epilepsy Tags
Green Green List (high evidence)	SLC35C1 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) Congenital disorder of glycosylation, type IIc 266265 Tags
Green Green List (high evidence)	SLC35D1 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes 9.2.3. O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation) Tags
Green Green List (high evidence)	SLC37A4 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycogen storage disease Ib, OMIM:232220 Glycogen storage disease Ic, OMIM:232240 Congenital disorder of glycosylation, type IIw, OMIM:619525 Tags
Green Green List (high evidence)	SLC38A3 Early onset or syndromic epilepsy v4.196	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Other Literature Phenotypes Developmental and epileptic encephalopathy 102, 619881 Tags
Green Green List (high evidence)	SLC39A14 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypermanganesemia with dystonia 2 Tags
Green Green List (high evidence)	SLC39A4 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Acrodermatitis enteropathica (Disorder of zinc metabolism) Acrodermatitis enteropathica 201100 (Disorder of zinc metabolism) Tags
Green Green List (high evidence)	SLC39A8 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list London North GLH NHS GMS Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIn 616721 Hypomagnesaemia with cerebellar atrophy, hypotonia, strabismus, developmental delay, short stature, mild skeletal dysplasia, and connective tissue abnormalities (Disorder of magnesium metabolism) Tags
Green Green List (high evidence)	SLC39A8 Early onset or syndromic epilepsy v4.196	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Phenotypes Congenital disorder of glycosylation, type IIn, OMIM:616721 SLC39A8-CDG, MONDO:0014746 Tags
Green Green List (high evidence)	SLC3A1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Renal tract calcification (or Nephrolithiasis/nephrocalcinosis) Cystinuria (Disorders of amino acid transport) Hypotonia-cystinuria syndrome (Disorders of amino acid transport) Tags
Green Green List (high evidence)	SLC40A1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hemochromatosis, type 4 606069 (Disorder of iron metabolism) Hereditary haemochromatosis Type 4 (Disorder of iron metabolism) Tags
Green Green List (high evidence)	SLC46A1 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Folate malabsorption, hereditary Hereditary folate malabsorption (Disorders of folate metabolism and transport) Tags
Green Green List (high evidence)	SLC52A2 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Brown-Vialetto-Van Laere syndrome 2 614707 Tags
Green Green List (high evidence)	SLC52A3 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Brown-Vialetto-Van Laere syndrome 1 211530 Fazio-Londe disease 211500 Tags
Green Green List (high evidence)	SLC5A1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glucose/galactose malabsorption (Disorders of glucose transport) Glucose/galactose malabsorption 606824 (Disorders of glucose transport) Tags
Green Green List (high evidence)	SLC5A6 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodegeneration, infantile-onset, biotin-responsive, OMIM:618973 Tags
Green Green List (high evidence)	SLC6A1 Early onset or syndromic epilepsy v4.196	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Expert Review Expert Review Green Phenotypes Myoclonic-atonic epilepsy, OMIM:616421 Tags
Green Green List (high evidence)	SLC6A19 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Iminoglycinuria, digenic Hartnup disorder AD Tags
Green Green List (high evidence)	SLC6A20 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperglycinuria Tags gene-checked Q4_23_demote_red Q4_23_expert_review refuted
Green Green List (high evidence)	SLC6A3 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability Early onset dystonia Dopamine transporter deficiency syndrome (Other disorders of neurotransmitter metabolism) Parkinson Disease and Complex Parkinsonism Tags
Green Green List (high evidence)	SLC6A8 Early onset or syndromic epilepsy v4.196	8 reviews 2 green 4 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Expert Phenotypes Cerebral creatine deficiency syndrome 1 300352 Tags
Green Green List (high evidence)	SLC6A8 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability Creatine transporter deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism) Tags
Green Green List (high evidence)	SLC7A7 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Lysinuric protein intolerance (Disorders of amino acid transport) Lysinuric protein intolerance 222700 Tags
Green Green List (high evidence)	SLC7A9 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Renal tract calcification (or Nephrolithiasis/nephrocalcinosis) Cystinuria (Disorders of amino acid transport) Tags
Green Green List (high evidence)	SLC9A6 Early onset or syndromic epilepsy v4.196	7 reviews 5 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Expert Review Green UKGTN Phenotypes Mental retardation, X-linked syndromic, Christianson type, 300243 Tags
Green Green List (high evidence)	SMARCA2 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Expert list Phenotypes Nicolaides-Baraitser syndrome 601358 Tags
Green Green List (high evidence)	SMARCC2 Early onset or syndromic epilepsy v4.196	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Literature Phenotypes Coffin-Siris syndrome 8, 618362 Global developmental delay Intellectual disability neurodevelopmental delay and growth retardation prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features Tags
Green Green List (high evidence)	SMC1A Early onset or syndromic epilepsy v4.196	5 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Cornelia de Lange syndrome 2, OMIM:300590 Cornelia de Lange syndrome 2, MONDO:0010370 Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044 Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771 Tags
Green Green List (high evidence)	SMPD1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Niemann-Pick disease, type A, 257200 Niemann-Pick disease, type B, 607616 Tags
Green Green List (high evidence)	SMS Early onset or syndromic epilepsy v4.196	8 reviews 2 green 4 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Expert Phenotypes Mental retardation, X-linked, Snyder-Robinson type 309583 Tags
Green Green List (high evidence)	SNAP25 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Expert Review Green Expert Review Green Expert Review Literature Phenotypes ?Myasthenic syndrome, congenital 18, 616330 ?Myasthenic syndrome, congenital, 18 Tags
Green Green List (high evidence)	SNIP1 Early onset or syndromic epilepsy v4.196	7 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Literature Phenotypes Psychomotor retardation, epilepsy, and craniofacial dysmorphism OMIM:614501 psychomotor retardation, epilepsy, and craniofacial dysmorphism MONDO:0013787 Tags founder-effect
Green Green List (high evidence)	SNORD118 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy, brain calcifications, and cysts 614561 Tags
Green Green List (high evidence)	SPATA5 Early onset or syndromic epilepsy v4.196	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, OMIM:616577 Tags new-gene-name
Green Green List (high evidence)	SPATA5L1 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616 Tags gene-checked new-gene-name
Green Green List (high evidence)	SPG7 Likely inborn error of metabolism - targeted testing not possible v4.137	5 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Spastic paraplegia 7, autosomal recessive, OMIM:607259 hereditary spastic paraplegia 7, MONDO:0011803 Tags
Green Green List (high evidence)	SPR Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability Early onset dystonia Sepiapterin reductase deficiency (Disorders of pterin metabolism) Parkinson Disease and Complex Parkinsonism Tags treatable
Green Green List (high evidence)	SPTAN1 Early onset or syndromic epilepsy v4.196	6 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Expert Expert Review Green Phenotypes Developmental and epileptic encephalopathy 5, OMIM:613477 developmental and epileptic encephalopathy, 5, MONDO:0013277 Tags
Green Green List (high evidence)	SPTBN1 Early onset or syndromic epilepsy v4.196	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Literature Phenotypes autosomal dominant neurodevelopmental syndrome Tags
Green Green List (high evidence)	SPTLC1 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Charcot-Marie-Tooth disease Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis) Familial dysautonomia Tags
Green Green List (high evidence)	SPTLC2 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Charcot-Marie-Tooth disease Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis) Familial dysautonomia Tags
Green Green List (high evidence)	SRD5A3 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes SRD5A3-CDG (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type Iq 612379 Tags
Green Green List (high evidence)	SSBP1 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert list Expert Review Green Phenotypes Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510 Tags
Green Green List (high evidence)	SSR4 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type Iy 300934 Tags
Green Green List (high evidence)	ST3GAL3 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Developmental and epileptic encephalopathy 15, OMIM:615006 developmental and epileptic encephalopathy, 15, MONDO:0014003 Intellectual developmental disorder, autosomal recessive 12, OMIM:611090 intellectual disability, autosomal recessive 12, MONDO:0012612 Tags
Green Green List (high evidence)	ST3GAL3 Early onset or syndromic epilepsy v4.196	9 reviews 2 green 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Phenotypes Developmental and epileptic encephalopathy 15, OMIM:615006 developmental and epileptic encephalopathy, 15, MONDO:0014003 Tags
Green Green List (high evidence)	ST3GAL5 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Phenotypes Salt and pepper developmental regression syndrome 609056 Tags
Green Green List (high evidence)	ST3GAL5 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Salt and pepper developmental regression syndrome 609056 GM3 synthase deficiency (Disorders of complex lipid synthesis) Tags
Green Green List (high evidence)	STAG1 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 47 617635 Tags
Green Green List (high evidence)	STAMBP Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly-capillary malformation syndrome, OMIM:614261 Tags
Green Green List (high evidence)	STRADA Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Expert Review Green Expert list Phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy 611087 Tags
Green Green List (high evidence)	STS Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green London North GLH NHS GMS Phenotypes X-linked ichthyosis (Other disorders in the metabolism of sterols) Autosomal recessive congenital ichthyosis Tags
Green Green List (high evidence)	STT3A Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714 Congenital disorder of glycosylation, type Iw, autosomal recessive, OMIM:615596 Tags
Green Green List (high evidence)	STX1B Early onset or syndromic epilepsy v4.196	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Expert Review Expert Review Green Phenotypes Generalized epilepsy with febrile seizures plus, type 9, 616172 Tags
Green Green List (high evidence)	STXBP1 Early onset or syndromic epilepsy v4.196	10 reviews 3 green 3 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Expert Expert Review Green Phenotypes Developmental and epileptic encephalopathy 4, OMIM:612164 Tags
Green Green List (high evidence)	SUCLA2 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073 Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of mitochondrial DNA maintenance and integrity Tags
Green Green List (high evidence)	SUCLA2 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073 Tags
Green Green List (high evidence)	SUCLG1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Mitochondrial DNA Depletion Syndrome Disorders of mitochondrial DNA maintenance and integrity Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria),245400 Tags
Green Green List (high evidence)	SUMF1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Multiple sulfatase deficiency Tags
Green Green List (high evidence)	SUOX Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Expert Review Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Phenotypes Sulfite oxidase deficiency Tags
Green Green List (high evidence)	SUOX Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Sulfite oxidase deficiency Tags
Green Green List (high evidence)	SURF1 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Leigh syndrome, due to COX IV deficiency, 256000 Tags
Green Green List (high evidence)	SURF1 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial Diseases Complex IV deficiency Leigh Syndrome Isolated complex IV deficiency Leigh syndrome, due to COX deficiency, 256000 Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Tags
Green Green List (high evidence)	SYN1 Early onset or syndromic epilepsy v4.196	3 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Expert list Phenotypes Epilepsy, X-linked, with variable learning disabilities and behavior disorders 300491 Tags
Green Green List (high evidence)	SYNGAP1 Early onset or syndromic epilepsy v4.196	6 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Expert Expert Review Green UKGTN Phenotypes Mental retardation, autosomal dominant 5 Tags
Green Green List (high evidence)	SYNJ1 Early onset or syndromic epilepsy v4.196	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Other Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 53, 617389 Tags
Green Green List (high evidence)	SZT2 Early onset or syndromic epilepsy v4.196	6 reviews 1 green 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 18, Tags
Green Green List (high evidence)	TACO1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial Diseases Multiple respiratory chain complex deficiencies (disorders of protein synthesis) ?Mitochondrial complex IV deficiency, 220110 Isolated complex IV deficiency Mitochondrial Respiratory Chain Complex IV Deficiency Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Tags
Green Green List (high evidence)	TAF8 Early onset or syndromic epilepsy v4.196	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, OMIM:619972 Tags
Green Green List (high evidence)	TALDO1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Transaldolase deficiency Tags
Green Green List (high evidence)	TANGO2 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Literature Phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 Tags
Green Green List (high evidence)	TANGO2 Likely inborn error of metabolism - targeted testing not possible v4.137	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 Tags
Green Green List (high evidence)	TARS2 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 21, OMIM:615918 Tags
Green Green List (high evidence)	TAT Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability Tyrosinaemia type II (Disorders of phenylalanine or tyrosine metabolism) Tags
Green Green List (high evidence)	TAZ Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources London North GLH NHS GMS Expert Review Green Phenotypes Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Barth syndrome, 302060 Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias) Disorders of mitochondrial lipid metabolism Tags new-gene-name
Green Green List (high evidence)	TBC1D24 Early onset or syndromic epilepsy v4.196	8 reviews 1 green 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Expert Phenotypes DOORS syndrome 220500 Epileptic encephalopathy, early infantile, 16 615338 Myoclonic epilepsy, infantile, familial 605021 Tags
Green Green List (high evidence)	TBC1D2B Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with seizures and gingival overgrowth, OMIM:619323 neurodevelopmental disorder with seizures and gingival overgrowth, MONDO:0859148 Tags gene-checked
Green Green List (high evidence)	TBCD Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, OMIM:617193 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, MONDO:0044646 Tags
Green Green List (high evidence)	TBCK Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 seizures Tags
Green Green List (high evidence)	TBL1XR1 Early onset or syndromic epilepsy v4.196	7 reviews 2 green 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Expert Review Phenotypes Mental retardation, autosomal dominant 41, 616944 Pierpont syndrome, 602342 Tags
Green Green List (high evidence)	TCF4 Early onset or syndromic epilepsy v4.196	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services UKGTN Expert Expert Review Green Phenotypes Pitt-Hopkins syndrome 610954 Tags
Green Green List (high evidence)	TCN2 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Congenital neutropaenia Intellectual disability A- or hypo-gammaglobulinaemia Agranulocytosis Combined B and T cell defect SCID Transcobalamin II deficiency (Disorders of cobalamin absorption, transport and metabolism) Tags
Green Green List (high evidence)	TDP2 Early onset or syndromic epilepsy v4.196	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia, autosomal recessive 23, 616949 Tags
Green Green List (high evidence)	TFAM Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), OMIM:617156 Tags
Green Green List (high evidence)	TFE3 Early onset or syndromic epilepsy v4.196	6 reviews 3 green 2 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, OMIM:301066 Tags Skewed X-inactivation
Green Green List (high evidence)	TFR2 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hemochromatosis, type 3 604250 Hereditary haemochromatosis Type 3 (Disorder of iron metabolism) Tags
Green Green List (high evidence)	TH Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability Early onset dystonia Tyrosine hydroxylase deficiency (Disorders of neurotransmitter metabolism, biogenic amines) Parkinson Disease and Complex Parkinsonism Tags treatable
Green Green List (high evidence)	TIAM1 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Neurodevelopmental disorder with language delay and seizures, OMIM:619908 Tags
Green Green List (high evidence)	TIMM50 Early onset or syndromic epilepsy v4.196	6 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes 3-methylglutaconic aciduria, type IX, 617698 intellectual disability and seizure epilepsy and developmental delay epileptic encephalopathy Tags
Green Green List (high evidence)	TIMM50 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Expert list Phenotypes 3-methylglutaconic aciduria, type IX 617698 Tags
Green Green List (high evidence)	TIMM8A Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mohr-Tranebjaerg syndrome, 304700 Jensen syndrome, 311150 Disorders of the mitochondrial import system Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Deafness, X-linked 1, progressive Tags
Green Green List (high evidence)	TIMMDC1 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Mitochondrial complex I deficiency, nuclear type 31, OMIM:618251 Tags
Green Green List (high evidence)	TK2 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 Mitochondrial DNA Depletion Syndrome Disorders of mitochondrial DNA maintenance and integrity Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Thymidine kinase 2 deficiency (Disorders of pyrimidine metabolism) Tags
Green Green List (high evidence)	TMEM126B Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Isolated complex I deficiency Tags
Green Green List (high evidence)	TMEM165 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIk 614727 CDG2K (other congenital disorders of glycosylation) Tags
Green Green List (high evidence)	TMEM199 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIp 616829 Tags
Green Green List (high evidence)	TMEM222 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Motor delay Delayed speech and language development Intellectual disability Generalized hypotonia Broad-based gait Abnormality of nervous system morphology Seizures Microcephaly Behavioral abnormality Tags gene-checked
Green Green List (high evidence)	TMEM5 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 Tags new-gene-name
Green Green List (high evidence)	TMEM70 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial Diseases Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 Isolated complex V deficiency Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type Tags
Green Green List (high evidence)	TMX2 Early onset or syndromic epilepsy v4.196	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730 Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887 Tags
Green Green List (high evidence)	TNPO2 Early onset or syndromic epilepsy v4.196	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Literature Phenotypes Intellectual disability Dysmorphic features Microcephaly Seizures Hypotonia Tags
Green Green List (high evidence)	TOP3A Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Expert list Phenotypes ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 Tags
Green Green List (high evidence)	TPK1 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 Tags
Green Green List (high evidence)	TPP1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Intellectual disability Ceroid lipofuscinosis, neuronal, 2 CLN2, Jansky-Bielschowsky disease (Ceroid lipfuscinoses, neuronal) Hereditary ataxia Tags
Green Green List (high evidence)	TPP1 Early onset or syndromic epilepsy v4.196	8 reviews 1 green 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Expert Review Green Expert Phenotypes Ceroid lipofuscinosis, neuronal, 2 204500 Tags
Green Green List (high evidence)	TRA2B Early onset or syndromic epilepsy v4.196	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 epilepsy, MONDO:0005027 Tags gene-checked
Green Green List (high evidence)	TRAK1 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Literature Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 68 618201 Tags
Green Green List (high evidence)	TRAP1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes VACTERL CAKUT Tags gene-checked
Green Green List (high evidence)	TRAPPC12 Early onset or syndromic epilepsy v4.196	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696 Tags
Green Green List (high evidence)	TRAPPC4 Early onset or syndromic epilepsy v4.196	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, 618741 Tags
Green Green List (high evidence)	TREX1 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 seizures Vasculopathy, retinal, with cerebral leukodystrophy, 192315 {Systemic lupus erythematosus, susceptibility to}, 152700 Tags
Green Green List (high evidence)	TREX1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability Familial cerebral small vessel disease Intracerebral calcification disorders (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS1 Inherited white matter disorders Tags
Green Green List (high evidence)	TRIM37 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mulibrey nanism (Other peroxisomal disorders) Mulibrey nanism Tags
Green Green List (high evidence)	TRIM8 Early onset or syndromic epilepsy v4.196	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Early-onset epileptic encephalopathy (EOEE) EE Seizures Tags
Green Green List (high evidence)	TRIT1 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Combined oxidative phosphorylation deficiency 35, OMIM :617873 combined oxidative phosphorylation deficiency 35, MONDO:0054742 Tags gene-checked
Green Green List (high evidence)	TRMT10C Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Combined oxidative phosphorylation deficiency 30, 616974 Tags
Green Green List (high evidence)	TRMT5 Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 26 616539 Multiple Respiratory-Chain Deficiencies Tags
Green Green List (high evidence)	TRMU Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes {Deafness, mitochondrial, modifier of}, 580000 Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Liver failure, transient infantile, 613070 Tags
Green Green List (high evidence)	TRNT1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes congenital sideroblastic anemia with B cell immunodeficiency, fevers, and developmental delay (SIFD) retinitis pigmentosa with erythrocytic microcytosis Tags
Green Green List (high evidence)	TRPM3 Early onset or syndromic epilepsy v4.196	7 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Literature Phenotypes Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures, OMIM:620224 Tags missense
Green Green List (high evidence)	TRPM6 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Expert Review Green Phenotypes Hypomagnesemia 1, intestinal 602014 Tags
Green Green List (high evidence)	TRPM6 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hypomagnesemia 1, intestinal 602014 Hypomagnesaemia type 1, intestinal (Disorder of magnesium metabolism) Tags
Green Green List (high evidence)	TSC1 Early onset or syndromic epilepsy v4.196	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Literature Phenotypes Focal cortical dysplasia, type II, somatic 607341 Tuberous sclerosis-1 191100 Tags mosaicism
Green Green List (high evidence)	TSC2 Early onset or syndromic epilepsy v4.196	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Literature Phenotypes Focal cortical dysplasia, type II, somatic 607341 Tuberous sclerosis-2 613254 Tags
Green Green List (high evidence)	TSEN54 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes ?Pontocerebellar hypoplasia type 5, OMIM:610204 Pontocerebellar hypoplasia type 2A, OMIM:277470 Pontocerebellar hypoplasia type 4, OMIM:225753 Tags
Green Green List (high evidence)	TSFM Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 3, 610505 Combined oxidative phosphorylation deficiency 3 610505 Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green Green List (high evidence)	TTC19 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial Diseases Isolated complex III deficiency Mitochondrial Respiratory Chain Complex III Deficiency Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Mitochondrial complex III deficiency, nuclear type 2, 615157 Tags
Green Green List (high evidence)	TTC37 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Infantile enterocolitis & monogenic inflammatory bowel disease Trichohepatoenteric syndrome 1 (Other metabolic disorders) Tags new-gene-name
Green Green List (high evidence)	TTPA Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes TTP1 deficiency (Other disorders of vitamins and cofactors) Hereditary ataxia Tags
Green Green List (high evidence)	TUBA1A Early onset or syndromic epilepsy v4.196	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Lissencephaly 3, 611603 Tags
Green Green List (high evidence)	TUBB2A Early onset or syndromic epilepsy v4.196	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Literature Phenotypes Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763 Complex cortical dysplasia with other brain malformations 5, MONDO:0014337 Tags
Green Green List (high evidence)	TUBB2B Early onset or syndromic epilepsy v4.196	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031 Tags
Green Green List (high evidence)	TUBB3 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Cortical dysplasia, complex, with other brain malformations 1, 614039 Tags
Green Green List (high evidence)	TUBB4A Early onset or syndromic epilepsy v4.196	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating, 6, 612438 Tags
Green Green List (high evidence)	TUBG1 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Cortical dysplasia, complex, with other brain malformations 4, 615412 Tags
Green Green List (high evidence)	TUBGCP2 Early onset or syndromic epilepsy v4.196	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, 618737 Tags gene-checked
Green Green List (high evidence)	TUFM Likely inborn error of metabolism - targeted testing not possible v4.137	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Combined oxidative phosphorylation deficiency 4 610678 Combined oxidative phosphorylation deficiency 4, 610678 Tags
Green Green List (high evidence)	TUSC3 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Intellectual developmental disorder, autosomal recessive 7, OMIM:611093 Tags
Green Green List (high evidence)	TWNK Likely inborn error of metabolism - targeted testing not possible v4.137	5 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286 Perrault syndrome 5, OMIM:616138 Tags
Green Green List (high evidence)	TYMP Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Thymidine phosphorylase deficiency (Disorders of pyrimidine metabolism) Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of mitochondrial DNA maintenance and integrity Mitochondrial Neurogastrointestinal Encephalopathy Disease Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 Tags
Green Green List (high evidence)	UBA5 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 44, 617132 Tags
Green Green List (high evidence)	UBAP2L Early onset or syndromic epilepsy v4.196	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, OMIM:620494 Tags
Green Green List (high evidence)	UBE2A Early onset or syndromic epilepsy v4.196	7 reviews 5 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services UKGTN Expert Review Green Phenotypes Mental retardation, X-linked syndromic, Nascimento-type Tags
Green Green List (high evidence)	UBE3A Early onset or syndromic epilepsy v4.196	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services UKGTN Expert Expert Review Green Phenotypes Angelman syndrome 105830 Tags
Green Green List (high evidence)	UBR7 Early onset or syndromic epilepsy v4.196	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability epilepsy hypothyroidism congenital anomalies dysmorphic features Tags
Green Green List (high evidence)	UFM1 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Expert Review Literature Phenotypes Leukodystrophy hypomyelinating 14, 617899 Tags
Green Green List (high evidence)	UFSP2 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Poor weight gain microcephaly epilepsy developmental delay lack of speech intellectual disability Tags founder-effect
Green Green List (high evidence)	UGDH Early onset or syndromic epilepsy v4.196	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 84 - MIM #618792 Tags
Green Green List (high evidence)	UGP2 Early onset or syndromic epilepsy v4.196	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 83, OMIM:618744 Tags
Green Green List (high evidence)	UGT1A1 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Crigler-Najjar syndrome, type I 218800 Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport) Crigler-Najjar syndrome, type II 606785 Tags
Green Green List (high evidence)	UMOD Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Cystic kidney disease Unexplained kidney failure in young people Familial juvenile hyperuricaemic nephropathy (Disorders of purine metabolism) Tags
Green Green List (high evidence)	UMPS Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Intellectual disability Orotic aciduria Orotic aciduria (Disorders of pyrimidine metabolism) Tags
Green Green List (high evidence)	UNC80 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, OMIM:616801 Tags
Green Green List (high evidence)	UPB1 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Beta-ureidopropionase deficiency (Disorders of pyrimidine metabolism) Beta-ureidopropionase deficiency 613161 Tags
Green Green List (high evidence)	UQCC2 Likely inborn error of metabolism - targeted testing not possible v4.137	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824 Tags
Green Green List (high evidence)	UQCRB Likely inborn error of metabolism - targeted testing not possible v4.137	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158 Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Isolated complex III deficiency Tags
Green Green List (high evidence)	UQCRC2 Likely inborn error of metabolism - targeted testing not possible v4.137	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex III deficiency, nuclear type 5, OMIM:615160 Tags
Green Green List (high evidence)	UQCRFS1 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex III deficiency, nuclear type 10, OMIM:618775 Tags
Green Green List (high evidence)	UROD Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London North GLH NHS GMS Expert Review Green Phenotypes Porphyria cutanea tarda (Porphyrias with erosive photodermatosis) Tags
Green Green List (high evidence)	UROS Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis) Porphyria, congenital erythropoietic 263700 Tags
Green Green List (high evidence)	USP18 Early onset or syndromic epilepsy v4.196	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pseudo-TORCH syndrome 2, 617397 Tags treatable
Green Green List (high evidence)	VAMP2 Early onset or syndromic epilepsy v4.196	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Expert Review Green Expert Review Green Expert Review Literature Phenotypes Cortical visual impairment Seizures Stereotypic behavior Generalized hypotonia Intellectual disability Abnormality of movement Global developmental delay Generalized hypotonia, Global developmental delay, Intellectual disability, Autistic behavior, Stereotypic behavior, Seizures, Abnormality of movement, Cortical visual impairment Autistic behavior Tags
Green Green List (high evidence)	VARS Early onset or syndromic epilepsy v4.196	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Literature Expert Review Phenotypes Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 617802 Tags new-gene-name
Green Green List (high evidence)	VARS2 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Combined oxidative phosphorylation deficiency 20, 615917 Tags
Green Green List (high evidence)	VIPAS39 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Inherited bleeding disorders ARC Syndrome (Other metabolic disorders) Arthrogryposis Tags
Green Green List (high evidence)	VKORC1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Vitamin K-dependent clotting factors, combined deficiency of, 2, OMIM:607473 Tags
Green Green List (high evidence)	VPS11 Early onset or syndromic epilepsy v4.196	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Expert Review Green Expert Review Green Expert Review Literature Phenotypes Leukodystrophy, hypomyelinating, 12 (MIM 616683) Leukodystrophy, hypomyelinating, 12 Tags
Green Green List (high evidence)	VPS33B Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Inherited bleeding disorders Unexplained kidney failure in young people CAKUT ARC Syndrome (Other metabolic disorders) Arthrogryposis Tags
Green Green List (high evidence)	WARS2 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Expert Review Green Expert Review Green Expert Review Literature Phenotypes Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 Tags
Green Green List (high evidence)	WARS2 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 Tags
Green Green List (high evidence)	WASF1 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Literature Phenotypes Neurodevelopmental disorder with absent language and variable seizures, 618707 Tags
Green Green List (high evidence)	WDR37 Early onset or syndromic epilepsy v4.196	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Global developmental delay Intellectual disability Seizures Abnormality of the eye Abnormality of nervous system morphology Hearing abnormality Abnormality of the cardiovascular system Abnormality of the skeletal system Abnormality of the genitourinary system Neurooculocardiogenitourinary syndrome, OMIM:618652 Tags gene-checked missense
Green Green List (high evidence)	WDR45 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources London North GLH NHS GMS Expert Review Green Phenotypes Neurodegeneration with brain iron accumulation 5 Tags
Green Green List (high evidence)	WDR45 Early onset or syndromic epilepsy v4.196	7 reviews 5 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Expert Review Expert Review Green Phenotypes Neurodegeneration with brain iron accumulation 5, 300894 Tags
Green Green List (high evidence)	WDR45B Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Literature Phenotypes Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, OMIM:617977 Tags
Green Green List (high evidence)	WDR73 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Galloway-Mowat syndrome 1, 251300 Tags
Green Green List (high evidence)	WFS1 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH NHS GMS Phenotypes Wolfram syndrome 1, OMIM:222300 Wolfram-like syndrome, autosomal dominant, OMIM:614296 Diabetes mellitus, noninsulin-dependent, association with, OMIM:125853 Tags
Green Green List (high evidence)	WNK3 Early onset or syndromic epilepsy v4.196	4 reviews 1 green 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS Expert Review Green Phenotypes Prieto syndrome, OMIM:309610 Intellectual disability, MONDO:0001071 Tags
Green Green List (high evidence)	WWOX Early onset or syndromic epilepsy v4.196	6 reviews 5 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Expert Review Green Expert Review Phenotypes Epileptic encephalopathy, early infantile, 28, 616211 Tags
Green Green List (high evidence)	XDH Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Xanthinuria type II (Disorders of purine metabolism) Xanthinuria type I (Disorders of purine metabolism) Tags
Green Green List (high evidence)	XPNPEP3 Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Nephronophthisis-like nephropathy 1 OMIM:613159 nephronophthisis-like nephropathy 1 MONDO:0013163 Tags
Green Green List (high evidence)	XYLT1 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Desbuquois dysplasia 2, 615777 Tags
Green Green List (high evidence)	XYLT2 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spondyloocular syndrome Tags
Green Green List (high evidence)	YARS2 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 Tags
Green Green List (high evidence)	YIPF5 Early onset or syndromic epilepsy v4.196	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Microcephaly, epilepsy, and diabetes syndrome 2, OMIM:619278 Tags
Green Green List (high evidence)	YWHAG Early onset or syndromic epilepsy v4.196	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 56 617665 Tags
Green Green List (high evidence)	ZBTB18 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 22, 612337 Tags
Green Green List (high evidence)	ZDHHC9 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Wessex and West Midlands GLH NHS GMS Expert Review Expert Review Green Expert Review Green Expert Review Literature Phenotypes epilepsy intellectual disability Mental retardation, X-linked syndromic, Raymond type, OMIM:300799 Tags
Green Green List (high evidence)	ZEB2 Early onset or syndromic epilepsy v4.196	6 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services UKGTN Expert Review Green Phenotypes Mowat-Wilson syndrome Tags
Green Green List (high evidence)	ZNF142 Early onset or syndromic epilepsy v4.196	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Expert Review Expert Review Literature Phenotypes Seizures Dystonia Intellectual disability Global developmental delay Tremor Neurodevelopmental disorder with impaired speech and hyperkinetic movements, 618425 Tags
Green Green List (high evidence)	ZNF335 Early onset or syndromic epilepsy v4.196	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Microcephaly 10, primary, autosomal recessive, 615095 Tags
Amber Amber List (moderate evidence)	ABCA2 Early onset or syndromic epilepsy v4.196	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder with poor growth and with or without seizures or ataxia, OMIM:618808 Intellectual developmental disorder with poor growth and with or without seizures or ataxia, MONDO:0032930 Tags
Amber Amber List (moderate evidence)	ACACA Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Acetyl-CoA carboxylase deficiency, OMIM: 613933 Tags Q4_23_NHS_review Q4_23_promote_green
Amber Amber List (moderate evidence)	ADAM22 Early onset or syndromic epilepsy v4.196	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes ?Epileptic encephalopathy, early infantile, 61 OMIM:617933 developmental and epileptic encephalopathy, 61 MONDO:0033370 Tags watchlist
Amber Amber List (moderate evidence)	ADAT3 Early onset or syndromic epilepsy v4.196	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Literature Expert Review Phenotypes Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, OMIM:615286 Tags
Amber Amber List (moderate evidence)	ADD1 Early onset or syndromic epilepsy v4.196	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Global developmental delay Intellectual disability Seizures Ventriculomegaly Abnormality of the corpus callosum Tags watchlist
Amber Amber List (moderate evidence)	AGO1 Early onset or syndromic epilepsy v4.196	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, OMIM:620292 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	AIMP2 Early onset or syndromic epilepsy v4.196	5 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Literature Phenotypes Epileptic Encephalopathy Infantile Spasms Leukodystrophy, hypomyelinating, 17, 618006 neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis Tags watchlist
Amber Amber List (moderate evidence)	ALG13 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber London North GLH NHS GMS Phenotypes ?Congenital disorder of glycosylation, type Is 300884 Epileptic encephalopathy, early infantile, 36 300884 Tags
Amber Amber List (moderate evidence)	ALG2 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Myasthenic syndrome, congenital, 14, with tubular aggregates 616228 Mannosyltransferase 2 deficiency (Disorders of protein N-glycosylation) ?Congenital disorder of glycosylation, type Ii 607906 Tags
Amber Amber List (moderate evidence)	ANK2 Early onset or syndromic epilepsy v4.196	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 epilepsy, MONDO:0005027 Tags Q1_24_promote_green
Amber Amber List (moderate evidence)	ARF3 Early onset or syndromic epilepsy v4.196	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Global developmental delay Intellectual disability, MONDO:0001071 Seizures Morphological abnormality of the central nervous system microcephaly, MONDO:0001149 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	ARSK Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mucopolysaccharidoses with short stature, coarse facial features and dysostosis multiplex Tags
Amber Amber List (moderate evidence)	ASL Early onset or syndromic epilepsy v4.196	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber ClinGen Literature Phenotypes Argininosuccinic aciduria, OMIM:207900 argininosuccinic aciduria, MONDO:0008815 seizure, HP:0001250 Tags Q4_23_NHS_review Q4_23_promote_green
Amber Amber List (moderate evidence)	ATP2B1 Early onset or syndromic epilepsy v4.196	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder, autosomal dominant 66, 619910 Tags watchlist
Amber Amber List (moderate evidence)	ATP5A1 Early onset or syndromic epilepsy v4.196	5 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228 Combined oxidative phosphorylation deficiency 22, OMIM: 616045 Tags new-gene-name watchlist
Amber Amber List (moderate evidence)	ATP5B Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes ?Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, OMIM: 620085 Tags new-gene-name
Amber Amber List (moderate evidence)	ATP5E Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, OMIM:614053 mitochondrial complex V (ATP synthase) deficiency nuclear type 3, MONDO:0013547 Tags new-gene-name Q4_23_promote_green
Amber Amber List (moderate evidence)	ATP6AP2 Early onset or syndromic epilepsy v4.196	3 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Literature Literature Phenotypes Mental retardation, X-linked, syndromic, Hedera type Tags watchlist
Amber Amber List (moderate evidence)	ATP6V0C Early onset or syndromic epilepsy v4.196	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 Tags Q3_23_NHS_review Q3_23_promote_green
Amber Amber List (moderate evidence)	BLOC1S1 Early onset or syndromic epilepsy v4.196	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes severe intellectual disability severe global developmental delay epilepsy Tags gene-checked watchlist
Amber Amber List (moderate evidence)	CACNA1H Early onset or syndromic epilepsy v4.196	8 reviews 5 red	Not set	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Expert Literature Phenotypes Hyperaldosteronism, familial, type IV 617027 {Epilepsy, childhood absence, susceptibility to, 6} 611942 {Epilepsy, idiopathic generalized, susceptibility to, 6} 611942 Tags
Amber Amber List (moderate evidence)	CACNA2D1 Early onset or syndromic epilepsy v4.196	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Early onset developmental epilepsy Tags
Amber Amber List (moderate evidence)	CAMSAP1 Early onset or syndromic epilepsy v4.196	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cortical dysplasia, complex, with other brain malformations 12, OMIM:620316 Tags Q1_24_promote_green
Amber Amber List (moderate evidence)	CCDC88A Early onset or syndromic epilepsy v4.196	5 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes ?PEHO syndrome-like 617507 Tags watchlist
Amber Amber List (moderate evidence)	CCDC88C Early onset or syndromic epilepsy v4.196	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Literature Literature Phenotypes ?Spinocerebellar ataxia 40 616053 AD Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR Tags watchlist
Amber Amber List (moderate evidence)	CDC42BPB Early onset or syndromic epilepsy v4.196	2 reviews	Unknown	Sources Expert Review Amber Literature Phenotypes CDC42BPB-related Neurodevelopmental Disorder Central hypotonia Global developmental delay Intellectual disability Seizures Autistic behavior Behavioral abnormality Tags
Amber Amber List (moderate evidence)	CLCN7 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Expert Review Amber Phenotypes Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541 Tags watchlist
Amber Amber List (moderate evidence)	CLN6 Early onset or syndromic epilepsy v4.196	6 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Expert Phenotypes Ceroid lipofuscinosis, neuronal, 6, 601780 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 Tags
Amber Amber List (moderate evidence)	CNOT9 Early onset or syndromic epilepsy v4.196	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes epilepsy, MONDO:0005027 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	COA3 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Ostergaard et al., 2015, J. Med. Genet., 52, 203-207. Tags
Amber Amber List (moderate evidence)	COASY Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Neurodegeneration with brain iron accumulation 6, 615643 Pontocerebellar hypoplasia, type 12, 618266 Tags
Amber Amber List (moderate evidence)	COG3 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital disorder of glycosylation, type IIbb, OMIM:620546 Tags
Amber Amber List (moderate evidence)	COG3 Early onset or syndromic epilepsy v4.196	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital disorder of glycosylation, type IIbb, OMIM:620546 Tags
Amber Amber List (moderate evidence)	COG4 Early onset or syndromic epilepsy v4.196	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIj, OMIM:613489 Tags
Amber Amber List (moderate evidence)	COG6 Early onset or syndromic epilepsy v4.196	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Iil 614576 Tags
Amber Amber List (moderate evidence)	COG8 Early onset or syndromic epilepsy v4.196	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIh 611182 Tags
Amber Amber List (moderate evidence)	COL4A3BP Early onset or syndromic epilepsy v4.196	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder, autosomal dominant 34, OMIM:616351 Tags new-gene-name Q1_24_promote_green
Amber Amber List (moderate evidence)	COLGALT1 Early onset or syndromic epilepsy v4.196	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Amber Phenotypes Brain small vessel disease 3, OMIM:618360 Tags watchlist
Amber Amber List (moderate evidence)	COQ6 Early onset or syndromic epilepsy v4.196	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 6, 614650 Tags
Amber Amber List (moderate evidence)	COX10 Early onset or syndromic epilepsy v4.196	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 Tags
Amber Amber List (moderate evidence)	COX11 Early onset or syndromic epilepsy v4.196	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275 Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520 Tags
Amber Amber List (moderate evidence)	COX15 Early onset or syndromic epilepsy v4.196	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119 Tags
Amber Amber List (moderate evidence)	COX4I2 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 612714 Tags
Amber Amber List (moderate evidence)	COX5A Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes ?Mitochondrial complex IV deficiency, nuclear type 20, OMIM:619064 Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	CPSF3 Early onset or syndromic epilepsy v4.196	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures, OMIM:619876 Tags
Amber Amber List (moderate evidence)	CRELD1 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Atrioventricular septal defect, partial, with heterotaxy syndrome, OMIM:606217 {Atrioventricular septal defect, susceptibility to, 2}, OMIM:606217 atrioventricular septal defect, susceptibility to, 2, MONDO:0011650 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	CSNK1G1 Early onset or syndromic epilepsy v4.196	8 reviews 6 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Expert Review Tags gene-checked
Amber Amber List (moderate evidence)	CSTB Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Amber Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 Tags nucleotide-repeat-expansion
Amber Amber List (moderate evidence)	CTSF Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362 neuronal ceroid lipofuscinosis 13 MONDO:0014147 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	CTSF Early onset or syndromic epilepsy v4.196	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Phenotypes Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 Tags
Amber Amber List (moderate evidence)	CTU2 Early onset or syndromic epilepsy v4.196	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes seizures DREAM‐PL syndrome Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 Tags
Amber Amber List (moderate evidence)	CYCS Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes Thrombocytopenia 4, OMIM:612004 Tags
Amber Amber List (moderate evidence)	CYP27A1 Early onset or syndromic epilepsy v4.196	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Literature Phenotypes Cerebrotendinous xanthomatosis, 213700 seizures photosensitive epilepsy Tags
Amber Amber List (moderate evidence)	DALRD3 Early onset or syndromic epilepsy v4.196	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Developmental and epileptic encephalopathy 86, # 618910 Tags
Amber Amber List (moderate evidence)	DCC Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Gaze palsy, familial horizontal, with progressive scoliosis, 2 Tags
Amber Amber List (moderate evidence)	DENND5B Early onset or syndromic epilepsy v4.196	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes DENND5B associated neurodevelopmental disorder Tags
Amber Amber List (moderate evidence)	DHCR24 Early onset or syndromic epilepsy v4.196	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Desmosterolosis, 602398 Tags watchlist
Amber Amber List (moderate evidence)	DHCR7 Early onset or syndromic epilepsy v4.196	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Emory Genetics Laboratory Phenotypes Smith-Lemli-Opitz syndrome, 270400 Tags
Amber Amber List (moderate evidence)	DHDDS Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Retinitis pigmentosa 59, OMIM:613861 ?Congenital disorder of glycosylation, type 1bb, OMIM:613861 Tags
Amber Amber List (moderate evidence)	DHX16 Early onset or syndromic epilepsy v4.196	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Neuromuscular disease and ocular or auditory anomalies with or without seizures 618733 Tags watchlist
Amber Amber List (moderate evidence)	DNAJC5 Early onset or syndromic epilepsy v4.196	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Other Literature Phenotypes Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350 autosomal dominant Kufs disease generalized tonic–clonic seizures Tags
Amber Amber List (moderate evidence)	DNAJC6 Early onset or syndromic epilepsy v4.196	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Parkinson disease 19b, early-onset, OMIM:615528 Parkinson disease 19a juvenile-onset, OMIM:615528 juvenile onset Parkinson disease 19A, MONDO:0014231 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	DPM2 Early onset or syndromic epilepsy v4.196	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Iu, OMIM:615042 Tags
Amber Amber List (moderate evidence)	EDEM3 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes Congenital disorder of glycosylation, type 2V, OMIM:619493 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	EFHC1 Early onset or syndromic epilepsy v4.196	7 reviews 1 green 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Expert list Literature Phenotypes {Epilepsy, juvenile absence, susceptibility to, 1} 607631 {Myoclonic epilepsy, juvenile, susceptibility to, 1} 254770 Tags
Amber Amber List (moderate evidence)	EHHADH Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes ?Fanconi renotubular syndrome 3, OMIM:615605 L-bifunctional protein deficiency Metabolic acidosis Increased amino acids in urine Tags
Amber Amber List (moderate evidence)	EIF2AK2 Early onset or syndromic epilepsy v4.196	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, 618877 Tags
Amber Amber List (moderate evidence)	EIF4A2 Early onset or syndromic epilepsy v4.196	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	EMX2 Early onset or syndromic epilepsy v4.196	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Schizencephaly, 269160 Tags
Amber Amber List (moderate evidence)	ERAL1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Perrault syndrome 6, 617565 Tags
Amber Amber List (moderate evidence)	ESAM Early onset or syndromic epilepsy v4.196	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Literature Expert Review Amber Phenotypes Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	EXOC7 Early onset or syndromic epilepsy v4.196	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Brain atrophy Seizures Developmental delay Microcephaly Tags watchlist
Amber Amber List (moderate evidence)	FAM50A Early onset or syndromic epilepsy v4.196	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Literature Phenotypes Mental retardation syndrome, X-linked, Armfield type, OMIM:300261 Armfield syndrome, MONDO:0010284 Tags
Amber Amber List (moderate evidence)	FDFT1 Early onset or syndromic epilepsy v4.196	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Squalene synthase deficiency, 618156 Tags watchlist
Amber Amber List (moderate evidence)	FH Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Fumarase deficiency, OMIM:606812 Tags
Amber Amber List (moderate evidence)	FKRP Early onset or syndromic epilepsy v4.196	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 seizures Walker-warburg syndrome or muscle-eye-brain disease Muscular dystrophy, congenital, 1c Tags
Amber Amber List (moderate evidence)	FUK Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Congenital disorder of glycosylation with defective fucosylation 2 OMIM:618324 congenital disorder of glycosylation with defective fucosylation 2 MONDO:0020777 Tags new-gene-name watchlist
Amber Amber List (moderate evidence)	FUK Early onset or syndromic epilepsy v4.196	5 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Expert Review Expert Review Amber Expert Review Literature Phenotypes Congenital disorder of glycosylation with defective fucosylation 2 OMIM:618324 congenital disorder of glycosylation with defective fucosylation 2 MONDO:0020777 Tags new-gene-name
Amber Amber List (moderate evidence)	GATC Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Combined oxidative phosphorylation deficiency 42, OMIM:618839 Tags
Amber Amber List (moderate evidence)	GCH1 Early onset or syndromic epilepsy v4.196	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Hyperphenylalaninemia, BH4-deficient, B, 233910 seizures Tags
Amber Amber List (moderate evidence)	GFM1 Early onset or syndromic epilepsy v4.196	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 1 609060 Tags
Amber Amber List (moderate evidence)	GLI3 Early onset or syndromic epilepsy v4.196	4 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Greig cephalopolysyndactyly syndrome, OMIM:175700 Pallister-Hall syndrome, OMIM:146510 Tags
Amber Amber List (moderate evidence)	GLRA1 Early onset or syndromic epilepsy v4.196	8 reviews 4 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Expert Phenotypes Hyperekplexia, hereditary 1, 149400 Hyperekplexia developmental delay infantile spasms and generalized tonic-clonic seizures Tags
Amber Amber List (moderate evidence)	GLS Early onset or syndromic epilepsy v4.196	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Developmental and epileptic encephalopathy 71, OMIM:618328 Tags
Amber Amber List (moderate evidence)	GLYCTK Early onset or syndromic epilepsy v4.196	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Expert Review Phenotypes D-glyceric aciduria 220120 Tags
Amber Amber List (moderate evidence)	GPIHBP1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Hyperlipoproteinemia, type 1D OMIM:615947 hyperlipoproteinemia, type 1D MONDO:0014412 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	GRN Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Amber Phenotypes Ceroid lipofuscinosis, neuronal, 11 OMIM:614706 neuronal ceroid lipofuscinosis 11 MONDO:0013866 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	GSS Early onset or syndromic epilepsy v4.196	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Expert Review Phenotypes Glutathione synthetase deficiency 266130 Hemolytic anemia due to glutathione synthetase deficiency 231900 Tags
Amber Amber List (moderate evidence)	GSTZ1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Eligibility statement prior genetic testing Expert Review Literature Phenotypes [Maleylacetoacetate isomerase deficiency], OMIM:617596 Tags Q1_24_NHS_review Q1_24_promote_green
Amber Amber List (moderate evidence)	GTPBP3 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 23, 616198 Tags watchlist
Amber Amber List (moderate evidence)	GUF1 Early onset or syndromic epilepsy v4.196	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Phenotypes ?Epileptic encephalopathy, early infantile, 40, 617065 Tags
Amber Amber List (moderate evidence)	HCCS Early onset or syndromic epilepsy v4.196	4 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Linear skin defects with multiple congenital anomalies 1, 309801 Tags watchlist
Amber Amber List (moderate evidence)	HEATR5B Early onset or syndromic epilepsy v4.196	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Amber Phenotypes pontocerebellar hypoplasia, MONDO:0020135 intellectual disability, MONDO:0001071 seizures Tags watchlist
Amber Amber List (moderate evidence)	HECTD4 Early onset or syndromic epilepsy v4.196	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Literature Phenotypes Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, OMIM:620250 Tags gene-checked Q4_23_promote_green
Amber Amber List (moderate evidence)	HLCS Early onset or syndromic epilepsy v4.196	8 reviews 1 green 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Expert Phenotypes Holocarboxylase synthetase deficiency, 253270 Tags
Amber Amber List (moderate evidence)	HOXA1 Early onset or syndromic epilepsy v4.196	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Athabaskan brainstem dysgenesis syndrome, 601536 Bosley-Salih-Alorainy syndrome, 601536 Tags watchlist
Amber Amber List (moderate evidence)	HPRT1 Early onset or syndromic epilepsy v4.196	4 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Lesch-Nyhan syndrome, OMIM:300322 Tags
Amber Amber List (moderate evidence)	HSD17B10 Early onset or syndromic epilepsy v4.196	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Literature Phenotypes HSD10 mitochondrial disease, OMIM:300438 Tags Q1_24_promote_green
Amber Amber List (moderate evidence)	HSPA9 Likely inborn error of metabolism - targeted testing not possible v4.137	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Even-plus syndrome, OMIM:616854 Tags Q4_23_NHS_review Q4_23_promote_green
Amber Amber List (moderate evidence)	HSPD1 Early onset or syndromic epilepsy v4.196	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating, 4, OMIM:612233 Tags watchlist
Amber Amber List (moderate evidence)	ISPD Early onset or syndromic epilepsy v4.196	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 Walker-Warburg syndrome Tags new-gene-name watchlist
Amber Amber List (moderate evidence)	JAKMIP1 Early onset or syndromic epilepsy v4.196	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Intellectual disability, MONDO:0001071 seizures Tags watchlist
Amber Amber List (moderate evidence)	KATNB1 Early onset or syndromic epilepsy v4.196	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Lissencephaly 6, with microcephaly, OMIM:616212, MONDO:0014534 Tags watchlist
Amber Amber List (moderate evidence)	KCNA1 Early onset or syndromic epilepsy v4.196	8 reviews 2 green 5 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber North West GLH Wessex and West Midlands GLH NHS GMS Expert Phenotypes Episodic ataxia/ myokymia syndrome, OMIM:160120 epilepsy, MONDO:0005027 Tags Q1_24_NHS_review Q1_24_promote_green
Amber Amber List (moderate evidence)	KCNA3 Early onset or syndromic epilepsy v4.196	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Phenotypes Neurodevelopmental disorder, MONDO:0700092 epilepsy, MONDO:0005027 Tags Q1_24_NHS_review Q1_24_promote_green
Amber Amber List (moderate evidence)	KCNH5 Early onset or syndromic epilepsy v4.196	6 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Expert Review Expert list Phenotypes Developmental and epileptic encephalopathy 112, OMIM:620537 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	KDM6B Early onset or syndromic epilepsy v4.196	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, OMIM:618505 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, MONDO:0032790 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	KIF1BP Early onset or syndromic epilepsy v4.196	8 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS UKGTN Phenotypes Goldberg-Shprintzen megacolon syndrome 609460 Tags new-gene-name
Amber Amber List (moderate evidence)	LARGE1 Early onset or syndromic epilepsy v4.196	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840 Tags watchlist
Amber Amber List (moderate evidence)	LDHD Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes D-lactic aciduria with susceptibility to gout, OMIM:245450 lactic aciduria due to D-lactic acid, MONDO:0009505 Tags
Amber Amber List (moderate evidence)	LETM1 Early onset or syndromic epilepsy v4.196	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 Tags Q3_23_MOI Q3_23_promote_green
Amber Amber List (moderate evidence)	LIPC Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Hepatic lipase deficiency, 614025 [High density lipoprotein cholesterol level QTL 12] 612797 {Diabetes mellitus, noninsulin-dependent} 125853 Tags
Amber Amber List (moderate evidence)	LIPT1 Early onset or syndromic epilepsy v4.196	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Lipoyltransferase 1 deficiency 616299 Tags
Amber Amber List (moderate evidence)	LIPT2 Early onset or syndromic epilepsy v4.196	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 617668 Tags watchlist
Amber Amber List (moderate evidence)	LMAN2L Early onset or syndromic epilepsy v4.196	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability Epilepsy Tags
Amber Amber List (moderate evidence)	LMF1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Lipase deficiency, combined OMIM:246650 lipase deficiency, combined MONDO:0009527 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	LMNB1 Early onset or syndromic epilepsy v4.196	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Microcephaly 26, primary, autosomal dominant, OMIM:619179 Tags watchlist
Amber Amber List (moderate evidence)	LNPK Early onset or syndromic epilepsy v4.196	5 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum 618090 Tags
Amber Amber List (moderate evidence)	LSS Early onset or syndromic epilepsy v4.196	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Expert Review Expert Review Amber Expert Review Literature Phenotypes Alopecia Abnormality of the skin Microcephaly Cataract 44, 616509, Hypotrichosis 14, 618275 Seizures Abnormality of the genital system Hypotonia Intellectual disability Global developmental delay Tags
Amber Amber List (moderate evidence)	LYST Early onset or syndromic epilepsy v4.196	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Expert list Phenotypes Chediak-Higashi syndrome 214500 Tags
Amber Amber List (moderate evidence)	MAN2B2 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes congenital disorder of glycosylation, MONDO:0015286 Tags
Amber Amber List (moderate evidence)	MANBA Early onset or syndromic epilepsy v4.196	4 reviews	Not set	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Tags
Amber Amber List (moderate evidence)	MAST1 Early onset or syndromic epilepsy v4.196	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Literature Phenotypes Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Cerebellar hypoplasia, Abnormality of the cerebral cortex, Seizures Global developmental delay, Intellectual disability, Microcephaly, Autism, Seizures Tags watchlist
Amber Amber List (moderate evidence)	MAST4 Early onset or syndromic epilepsy v4.196	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder MONDO:0700092, MAST4-related Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	MED17 Early onset or syndromic epilepsy v4.196	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Expert Review Phenotypes Microcephaly, postnatal progressive, with seizures and brain atrophy, OMIM:613668 Tags watchlist
Amber Amber List (moderate evidence)	MRM2 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes ?Mitochondrial DNA depletion syndrome 17, OMIM:618567 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	MRPS14 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes ?Combined oxidative phosphorylation deficiency 38, OMIM:618378 Tags
Amber Amber List (moderate evidence)	MRPS16 Likely inborn error of metabolism - targeted testing not possible v4.137	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 2 610498 Tags
Amber Amber List (moderate evidence)	MRPS7 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Amber Amber List (moderate evidence)	MT-RNR2 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Amber Tags
Amber Amber List (moderate evidence)	MT-TT Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Amber Tags
Amber Amber List (moderate evidence)	MTR Early onset or syndromic epilepsy v4.196	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 methionine synthase deficiency type cblG seizures Tags
Amber Amber List (moderate evidence)	NCDN Early onset or syndromic epilepsy v4.196	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Intellectual disability epilepsy Tags
Amber Amber List (moderate evidence)	NDP Early onset or syndromic epilepsy v4.196	4 reviews 1 red	Not set	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Tags
Amber Amber List (moderate evidence)	NDUFA2 Early onset or syndromic epilepsy v4.196	5 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Leigh syndrome due to mitochondrial complex I deficiency 256000 Tags
Amber Amber List (moderate evidence)	NDUFAF3 Early onset or syndromic epilepsy v4.196	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency 252010 Tags
Amber Amber List (moderate evidence)	NDUFAF4 Early onset or syndromic epilepsy v4.196	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 15, 618237 Tags watchlist
Amber Amber List (moderate evidence)	NDUFB7 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes ?Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135 Tags watchlist
Amber Amber List (moderate evidence)	NDUFB9 Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes ?Mitochondrial complex I deficiency, nuclear type 24 618245 Tags
Amber Amber List (moderate evidence)	NDUFS1 Early onset or syndromic epilepsy v4.196	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 Tags
Amber Amber List (moderate evidence)	NDUFS2 Early onset or syndromic epilepsy v4.196	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency 252010 Tags
Amber Amber List (moderate evidence)	NDUFS6 Early onset or syndromic epilepsy v4.196	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency 252010 Tags
Amber Amber List (moderate evidence)	NDUFS7 Early onset or syndromic epilepsy v4.196	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 3, 618224 Tags watchlist
Amber Amber List (moderate evidence)	NECAP1 Early onset or syndromic epilepsy v4.196	9 reviews 1 green 5 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Phenotypes Epileptic encephalopathy, early infantile, 21, 615833 Early onset epileptic encephalopathy (EOEE) Tags
Amber Amber List (moderate evidence)	NSF Early onset or syndromic epilepsy v4.196	4 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Developmental and epileptic encephalopathy 96, OMIM:619340 Tags
Amber Amber List (moderate evidence)	NUBPL Early onset or syndromic epilepsy v4.196	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency 252010 Tags
Amber Amber List (moderate evidence)	NUS1 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes Intellectual developmental disorder, autosomal dominant 55, with seizures, OMIM:617831 ?Congenital disorder of glycosylation, type 1aa, OMIM:617082 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	OPLAH Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes 5-oxoprolinase deficiency 260005 Tags
Amber Amber List (moderate evidence)	OTX2 Early onset or syndromic epilepsy v4.196	3 reviews	Not set	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Tags
Amber Amber List (moderate evidence)	PABPC1 Early onset or syndromic epilepsy v4.196	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Global developmental delay Expressive language delay Intellectual disability Behavioral abnormality Seizures Tags Q3_23_MOI Q3_23_promote_green
Amber Amber List (moderate evidence)	PARP6 Early onset or syndromic epilepsy v4.196	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Amber Phenotypes Intellectual disability Epilepsy Microcephaly Tags watchlist
Amber Amber List (moderate evidence)	PDSS2 Early onset or syndromic epilepsy v4.196	4 reviews 1 red	Not set	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Tags
Amber Amber List (moderate evidence)	PET117 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Mitochondrial complex IV deficiency, nuclear type 19, OMIM:619063 Tags
Amber Amber List (moderate evidence)	PEX1 Early onset or syndromic epilepsy v4.196	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 1A (Zellweger) 214100 Peroxisome biogenesis disorder 1B (NALD/IRD) 601539 Adrenoleukodystrophy Tags
Amber Amber List (moderate evidence)	PEX10 Early onset or syndromic epilepsy v4.196	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Literature Phenotypes Peroxisome biogenesis disorder 6A (Zellweger) 614870 Tags
Amber Amber List (moderate evidence)	PEX12 Early onset or syndromic epilepsy v4.196	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Literature Phenotypes Peroxisome biogenesis disorder 3A (Zellweger) 614859 Tags
Amber Amber List (moderate evidence)	PEX13 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Literature Phenotypes Peroxisome biogenesis disorder 11A (Zellweger) 614883 Tags
Amber Amber List (moderate evidence)	PEX19 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Literature Phenotypes Peroxisome biogenesis disorder 12A (Zellweger) 614886 Tags
Amber Amber List (moderate evidence)	PEX2 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Literature Phenotypes Peroxisome biogenesis disorder 5A (Zellweger) 614866 Tags
Amber Amber List (moderate evidence)	PEX3 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Literature Phenotypes Peroxisome biogenesis disorder 10A (Zellweger) 614882 Tags
Amber Amber List (moderate evidence)	PEX5 Early onset or syndromic epilepsy v4.196	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Literature Phenotypes Peroxisome biogenesis disorder 2A (Zellweger) 214110 Peroxisome biogenesis disorder 2B 202370 Rhizomelic chondrodysplasia punctata, type 5 616716 Tags watchlist
Amber Amber List (moderate evidence)	PEX6 Early onset or syndromic epilepsy v4.196	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Literature Phenotypes Peroxisome biogenesis disorder 4A (Zellweger) 614862 Peroxisome biogenesis disorder 4B 614863 Tags
Amber Amber List (moderate evidence)	PEX7 Early onset or syndromic epilepsy v4.196	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Rhizomelic chondrodysplasia punctata, type 1 215100 Tags
Amber Amber List (moderate evidence)	PIGM Early onset or syndromic epilepsy v4.196	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH Expert Review Amber NHS GMS Phenotypes Glycosylphosphatidylinositol deficiency, OMIM:610293 Tags non-coding-known-pathogenic promoter Q4_23_promote_green
Amber Amber List (moderate evidence)	PIGM Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Glycosylphosphatidylinositol deficiency, OMIM:610293 Tags non-coding-known-pathogenic promoter Q4_23_NHS_review Q4_23_promote_green
Amber Amber List (moderate evidence)	PIGS Early onset or syndromic epilepsy v4.196	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Glycosylphosphatidylinositol biosynthesis defect 18 618143 Tags watchlist
Amber Amber List (moderate evidence)	PIP5K1C Early onset or syndromic epilepsy v4.196	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 epilepsy, MONDO:0005027 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	PITRM1 Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes mental retardation, spinocerebellar ataxia, cognitive decline and psychosis Tags
Amber Amber List (moderate evidence)	PLA2G6 Early onset or syndromic epilepsy v4.196	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Literature Phenotypes Infantile neuroaxonal dystrophy 1, OMIM:256600 neurodegeneration with brain iron accumulation 2A, MONDO:0024457 Neurodegeneration with brain iron accumulation 2B, OMIM:610217 neurodegeneration with brain iron accumulation 2B, MONDO:0012444 Parkinson disease 14, autosomal recessive, OMIM:612953 autosomal recessive Parkinson disease 14, MONDO:0013060 Tags Q4_23_promote_green watchlist_moi
Amber Amber List (moderate evidence)	POLG2 Early onset or syndromic epilepsy v4.196	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528 Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131 Tags
Amber Amber List (moderate evidence)	POMT2 Early onset or syndromic epilepsy v4.196	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 Tags
Amber Amber List (moderate evidence)	PPP1R3F Early onset or syndromic epilepsy v4.196	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Literature Expert Review Amber Phenotypes neurodevelopmental disorder, MONDO:0700092 epilepsy, MONDO:0005027 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	PRODH Early onset or syndromic epilepsy v4.196	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Expert Review Phenotypes Hyperprolinemia, type I, OMIM:239500 hyperprolinemia type 1, MONDO:0009400 Tags
Amber Amber List (moderate evidence)	PSAT1 Early onset or syndromic epilepsy v4.196	4 reviews 1 red	Not set	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Tags
Amber Amber List (moderate evidence)	PSPH Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Amber Phenotypes Phosphoserine phosphatase deficiency 614023 Tags
Amber Amber List (moderate evidence)	PSPH Early onset or syndromic epilepsy v4.196	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Phosphoserine phosphatase deficiency 614023 Tags watchlist
Amber Amber List (moderate evidence)	PTCD3 Early onset or syndromic epilepsy v4.196	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes ?Combined oxidative phosphorylation deficiency 51, OMIM:619057 combined oxidative phosphorylation deficiency 51, MONDO:0033631 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	PTCD3 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes ?Combined oxidative phosphorylation deficiency 51, OMIM:619057 combined oxidative phosphorylation deficiency 51, MONDO:0033631 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	PTF1A Early onset or syndromic epilepsy v4.196	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Pancreatic and cerebellar agenesis, 609069 Tags watchlist
Amber Amber List (moderate evidence)	QARS Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags new-gene-name
Amber Amber List (moderate evidence)	QDPR Early onset or syndromic epilepsy v4.196	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Hyperphenylalaninemia, BH4-deficient, C, 261630 DHPR deficiency Tags
Amber Amber List (moderate evidence)	RAB11A Early onset or syndromic epilepsy v4.196	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Global developmental delay, HP:0001263 Intellectual disability, HP:0001249 seizures Tags gene-checked
Amber Amber List (moderate evidence)	RAB3GAP1 Early onset or syndromic epilepsy v4.196	4 reviews 1 red	Not set	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Tags
Amber Amber List (moderate evidence)	RAB3GAP2 Early onset or syndromic epilepsy v4.196	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Martsolf syndrome 1, OMIM:212720 Warburg micro syndrome 2, OMIM:614225 Tags
Amber Amber List (moderate evidence)	RAB5C Early onset or syndromic epilepsy v4.196	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, RAB5C-related Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	RANBP2 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Acute necrotizing encephalopathy (Other metabolic disorders) Tags
Amber Amber List (moderate evidence)	RANBP2 Early onset or syndromic epilepsy v4.196	5 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Expert Review Phenotypes {Encephalopathy, acute, infection-induced, 3, susceptibility to} 608033 Tags
Amber Amber List (moderate evidence)	RNASET2 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Amber Phenotypes Intellectual disability RNASET2-deficient cystic leukoencephalopathy (Disorders of nucleotide metabolism) Inherited white matter disorders Tags
Amber Amber List (moderate evidence)	RNF2 Early onset or syndromic epilepsy v4.196	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes epilepsy intellectual disability intrauterine growth retardation Tags
Amber Amber List (moderate evidence)	RNU4ATAC Early onset or syndromic epilepsy v4.196	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710 Tags
Amber Amber List (moderate evidence)	RPIA Early onset or syndromic epilepsy v4.196	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Literature Phenotypes Ribose 5-phosphate isomerase deficiency, OMIM:608611 Tags
Amber Amber List (moderate evidence)	RRM2B Early onset or syndromic epilepsy v4.196	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 seizures status epilepticus Tags
Amber Amber List (moderate evidence)	RUSC2 Early onset or syndromic epilepsy v4.196	4 reviews 1 red	Not set	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 61 617773 Tags
Amber Amber List (moderate evidence)	RYR1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Rhabdomyolysis and metabolic muscle disorders Tags
Amber Amber List (moderate evidence)	RYR2 Early onset or syndromic epilepsy v4.196	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Literature Phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 1 604772 Tags
Amber Amber List (moderate evidence)	SAMD12 Early onset or syndromic epilepsy v4.196	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Epilepsy, familial adult myoclonic, 1, OMIM:601068 epilepsy, familial adult myoclonic, 1, MONDO:0010985 Tags STR
Amber Amber List (moderate evidence)	SCO1 Early onset or syndromic epilepsy v4.196	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048 Tags
Amber Amber List (moderate evidence)	SCO2 Early onset or syndromic epilepsy v4.196	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 Tags
Amber Amber List (moderate evidence)	SDHA Early onset or syndromic epilepsy v4.196	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Leigh syndrome 256000 Mitochondrial respiratory chain complex II deficiency 252011 Tags
Amber Amber List (moderate evidence)	SDHAF2 Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London North GLH NHS GMS Expert Review Amber Phenotypes Mitochondrial Diseases Isolated complex II deficiency Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Neuro-endocrine Tumours- PCC and PGL Multiple endocrine tumours Multiple Tumours Tags
Amber Amber List (moderate evidence)	SDHC Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Amber Phenotypes Mitochondrial Diseases Isolated complex II deficiency Neuro-endocrine Tumours- PCC and PGL Multiple endocrine tumours Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Multiple Tumours Tags
Amber Amber List (moderate evidence)	SHQ1 Early onset or syndromic epilepsy v4.196	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Dystonia 35, childhood-onset, OMIM:619921 dystonia 35, childhood-onset, MONDO:0030958 Neurodevelopmental disorder with dystonia and seizures, OMIM:619922 neurodevelopmental disorder with dystonia and seizures, MONDO:0859258 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	SIX3 Early onset or syndromic epilepsy v4.196	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Literature Phenotypes Holoprosencephaly 2 157170 Schizencephaly 269160 Tags
Amber Amber List (moderate evidence)	SLC31A1 Early onset or syndromic epilepsy v4.196	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092 Epilepsy, MONDO:0005027 Tags
Amber Amber List (moderate evidence)	SLC31A1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092 Tags
Amber Amber List (moderate evidence)	SLC35A1 Early onset or syndromic epilepsy v4.196	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Literature Phenotypes Congenital disorder of glycosylation, type IIf, 603585 seizures Tags
Amber Amber List (moderate evidence)	SLC35A3 Early onset or syndromic epilepsy v4.196	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Literature Phenotypes ?Arthrogryposis, mental retardation, and seizures (MIM 615553) Early onset epileptic encephalopathy with skeletal defects Tags watchlist
Amber Amber List (moderate evidence)	SLC45A1 Early onset or syndromic epilepsy v4.196	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder with neuropsychiatric features 617532 Tags watchlist
Amber Amber List (moderate evidence)	SNF8 Early onset or syndromic epilepsy v4.196	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 epilepsy, MONDO:0005027 Tags
Amber Amber List (moderate evidence)	SNX27 Early onset or syndromic epilepsy v4.196	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Generalized hypotonia Global developmental delay Intellectual disability Seizures Tags gene-checked watchlist
Amber Amber List (moderate evidence)	SPR Early onset or syndromic epilepsy v4.196	4 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716 Tags
Amber Amber List (moderate evidence)	SPTBN4 Early onset or syndromic epilepsy v4.196	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness MIM#617519 Tags
Amber Amber List (moderate evidence)	SSR3 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Amber Phenotypes Congenital disorder of glycosylation Tags
Amber Amber List (moderate evidence)	STARD7 Early onset or syndromic epilepsy v4.196	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Other Literature Phenotypes Epilepsy, familial adult myoclonic, 2, 607876 Familial adult myoclonic epilepsy-2 FAME-2 Tags STR
Amber Amber List (moderate evidence)	STAT2 Likely inborn error of metabolism - targeted testing not possible v4.137	7 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Immunodeficiency 44 616636 elongated mitochondria severe neurological deterioration following viral infection Tags
Amber Amber List (moderate evidence)	SUCLG1 Early onset or syndromic epilepsy v4.196	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 Tags watchlist
Amber Amber List (moderate evidence)	SYNCRIP Early onset or syndromic epilepsy v4.196	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Global developmental delay Intellectual disability Autism Myoclonic atonic seizures Abnormality of nervous system morphology Tags gene-checked
Amber Amber List (moderate evidence)	TANC2 Early onset or syndromic epilepsy v4.196	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder with autistic features and language delay, with or without seizures, 618906 Tags
Amber Amber List (moderate evidence)	TBC1D20 Early onset or syndromic epilepsy v4.196	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Warburg micro syndrome 4, 615663 seizures Tags watchlist
Amber Amber List (moderate evidence)	TEFM Early onset or syndromic epilepsy v4.196	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Combined oxidative phosphorylation deficiency 58, OMIM:620451 Tags
Amber Amber List (moderate evidence)	TELO2 Early onset or syndromic epilepsy v4.196	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Expert Review Literature Phenotypes You-Hoover-Fong syndrome 616954 Tags
Amber Amber List (moderate evidence)	TET3 Early onset or syndromic epilepsy v4.196	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Literature Phenotypes Beck-Fahrner syndrome OMIM:618798 Tags watchlist
Amber Amber List (moderate evidence)	TKFC Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Triokinase and FMN cyclase deficiency syndrome, 618805 Tags watchlist
Amber Amber List (moderate evidence)	TMEM106B Early onset or syndromic epilepsy v4.196	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Leukodystrophy, hypomyelinating, 16, OMIM:617964 Leukodystrophy, hypomyelinating, 16, MONDO:0054791 Tags missense
Amber Amber List (moderate evidence)	TMEM63B Early onset or syndromic epilepsy v4.196	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes developmental and epileptic encephalopathy, MONDO:0100062 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	TMEM65 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes TMEM65 related mitochondrial encephalopmyopathy Tags
Amber Amber List (moderate evidence)	TMEM70 Early onset or syndromic epilepsy v4.196	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 seizures Tags
Amber Amber List (moderate evidence)	TNK2 Early onset or syndromic epilepsy v4.196	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes severe autosomal recessive infantile onset epilepsy EE Tags watchlist
Amber Amber List (moderate evidence)	TRAF7 Early onset or syndromic epilepsy v4.196	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Expert Review Literature Phenotypes Cardiac, facial, and digital anomalies with developmental delay, 618164 Global developmental delay Abnormal heart morphology Abnormality of digit Abnormality of limbs Tags watchlist
Amber Amber List (moderate evidence)	TRAPPC11 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 18 OMIM:615356 autosomal recessive limb-girdle muscular dystrophy type 2S MONDO:0014144 Tags
Amber Amber List (moderate evidence)	TRAPPC6B Early onset or syndromic epilepsy v4.196	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, OMIM:617862 Tags
Amber Amber List (moderate evidence)	TRIP13 Early onset or syndromic epilepsy v4.196	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mosaic variegated aneuploidy syndrome 3, 617598 Tags watchlist
Amber Amber List (moderate evidence)	TRIT1 Early onset or syndromic epilepsy v4.196	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Combined oxidative phosphorylation deficiency 35, OMIM:617873 combined oxidative phosphorylation deficiency 35, MONDO:0054742 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	TRRAP Early onset or syndromic epilepsy v4.196	5 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Expert Review Expert Review Amber Expert Review Literature Phenotypes Microcephaly Seizures Abnormal heart morphology Autism Developmental delay with or without dysmorphic facies and autism, 618454 Intellectual disability Abnormality of the urinary system Global developmental delay Tags
Amber Amber List (moderate evidence)	TSEN15 Early onset or syndromic epilepsy v4.196	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Literature Phenotypes Pontocerebellar hypoplasia, type 2F, OMIM:617026 Tags
Amber Amber List (moderate evidence)	TSEN2 Early onset or syndromic epilepsy v4.196	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia type 2B, 612389 Tags
Amber Amber List (moderate evidence)	TSEN34 Early onset or syndromic epilepsy v4.196	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes ?Pontocerebellar hypoplasia type 2C, 612390 Tags watchlist
Amber Amber List (moderate evidence)	TSFM Early onset or syndromic epilepsy v4.196	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 3, 610505 seizures Tags watchlist
Amber Amber List (moderate evidence)	TUBA8 Early onset or syndromic epilepsy v4.196	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Cortical dysplasia, complex, with other brain malformations 8, 613180 seizures Tags watchlist
Amber Amber List (moderate evidence)	TUBB Early onset or syndromic epilepsy v4.196	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Cortical dysplasia, complex, with other brain malformations 6, 615771 Tags watchlist
Amber Amber List (moderate evidence)	TXNRD1 Early onset or syndromic epilepsy v4.196	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Literature Phenotypes genetic generalized epilepsy Tags
Amber Amber List (moderate evidence)	U2AF2 Early onset or syndromic epilepsy v4.196	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Amber Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	UFC1 Early onset or syndromic epilepsy v4.196	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Expert Review Literature Phenotypes Neurodevelopmental disorder with spasticity and poor growth, 618076 Tags
Amber Amber List (moderate evidence)	UQCC3 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes ?Mitochondrial complex III deficiency, nuclear type, 616111 Isolated complex III deficiency Tags
Amber Amber List (moderate evidence)	UQCRC1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes Parkinsonism with polyneuropathy, OMIM:619279 Tags
Amber Amber List (moderate evidence)	UQCRQ Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Mitochondrial complex III deficiency, nuclear type 4, 615159 Tags
Amber Amber List (moderate evidence)	UROC1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Amber Phenotypes Intellectual disability Urocanase deficiency (Disorders of histidine, tryptophan or lysine metabolism) Tags
Amber Amber List (moderate evidence)	USP7 Early onset or syndromic epilepsy v4.196	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Literature Phenotypes Hao-Fountain syndrome, 616863 Tags
Amber Amber List (moderate evidence)	VLDLR Early onset or syndromic epilepsy v4.196	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 Tags watchlist
Amber Amber List (moderate evidence)	VPS16 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes Mucopolysaccharidosis-like syndrome (biallelic) Dystonia Associated with Lysosomal Abnormalities (monoallelic) Dystonia 30, OMIM:619291 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	VPS33A Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes Mucopolysaccharidosis-plus syndrome OMIM:617303 mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders MONDO:0015012 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	VPS50 Early onset or syndromic epilepsy v4.196	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neonatal cholestatic liver disease Failure to thrive Profound global developmental delay Postnatal microcephaly Seizures Abnormality of the corpus callosum Tags watchlist
Amber Amber List (moderate evidence)	WDR62 Early onset or syndromic epilepsy v4.196	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, OMIM:604317 Tags
Amber Amber List (moderate evidence)	XK Early onset or syndromic epilepsy v4.196	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 Amber Expert list Phenotypes McLeod syndrome with or without chronic granulomatous disease, OMIM:300842 McLeod neuroacanthocytosis syndrome, MONDO:0018945 Tags
Amber Amber List (moderate evidence)	YIF1B Early onset or syndromic epilepsy v4.196	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Central hypotonia Failure to thrive Microcephaly Global developmental delay Intellectual disability Seizures Spasticity Abnormality of movement Tags
Amber Amber List (moderate evidence)	YME1L1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes ?Optic atrophy 11, 617302 Tags
Amber Amber List (moderate evidence)	ZBTB47 Early onset or syndromic epilepsy v4.196	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	ZMIZ1 Early onset or syndromic epilepsy v4.196	4 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Expert Review Expert Review Amber Expert Review Literature Phenotypes Global developmental delay Intellectual disability Feeding difficulties Growth abnormality Microcephaly Abnormality of the skeletal system Abnormality of the urinary system Abnormality of the cardiovascular system Abnormality of head or neck Seizures Tags
Amber Amber List (moderate evidence)	ZMYM2 Early onset or syndromic epilepsy v4.196	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Expert Review Amber Phenotypes Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, OMIM:619522 Tags
Amber Amber List (moderate evidence)	ZNFX1 Early onset or syndromic epilepsy v4.196	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Immunodeficiency 91 and hyperinflammation, OMIM:619644 immunodeficiency 91 and hyperinflammation, MONDO:0030491 Tags Q1_24_NHS_review Q1_24_promote_green
Red Red List (low evidence)	AARS2 Early onset or syndromic epilepsy v4.196	4 reviews 1 red	Not set	Sources Wessex and West Midlands GLH NHS GMS Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	ABCG2 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes Primary idiopathic gout (Disorders of purine metabolism) [Junior blood group system] 614490 [Uric acid concentration, serum, QTL1] 138900 Tags
Red Red List (low evidence)	ACAT2 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	Unknown	Sources Expert Review Red Literature Phenotypes ?ACAT2 deficiency, OMIM:614055 Increased serum lactate and pyruvate High levels of ketones Low levels of cytosolic acetoacetyl-CoA thiolase Hypotonia Severe developmental delay Tags
Red Red List (low evidence)	ADGRV1 Early onset or syndromic epilepsy v4.196	4 reviews	Not set	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Radboud University Medical Center, Nijmegen Expert Review Red Phenotypes Febrile seizures, familial, 4, 604352 Usher syndrome, type 2C, 605472 Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 Tags
Red Red List (low evidence)	ADRA2B Early onset or syndromic epilepsy v4.196	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS Wessex and West Midlands GLH Phenotypes Cortical myoclonus and epilepsy Tags
Red Red List (low evidence)	AGMO Early onset or syndromic epilepsy v4.196	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes microcephaly intellectual disability epilepsy generalized tonic-clonic seizures Tags
Red Red List (low evidence)	AKT1 Early onset or syndromic epilepsy v4.196	5 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Proteus syndrome, somatic 176920 Tags mosaicism somatic
Red Red List (low evidence)	ALDH1B1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Succinic semialdehyde dehydrogenase deficiency Tags
Red Red List (low evidence)	ALG10 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Progressive myoclonus epilepsy CDG Tags
Red Red List (low evidence)	ALG12 Early onset or syndromic epilepsy v4.196	4 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Red Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ig 607143 Tags
Red Red List (low evidence)	ALG2 Early onset or syndromic epilepsy v4.196	4 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Red Victorian Clinical Genetics Services Phenotypes ?Congenital disorder of glycosylation type Ii, 607906 Myasthenic syndrome congenital 14 with tubular aggregates, 616228 Tags
Red Red List (low evidence)	AMPD1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes Myoadenylate deaminase deficiency (Disorders of purine metabolism) Myopathy due to myoadenylate deaminase deficiency 615511 Tags
Red Red List (low evidence)	AOX1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes Xanthinuria type II (Disorders of purine metabolism) Tags
Red Red List (low evidence)	ARSG Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	Unknown	Sources Expert Review Red Phenotypes neuronal ceroid lipofuscinosis Tags
Red Red List (low evidence)	ASTN1 Early onset or syndromic epilepsy v4.196	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Intellectual disability epilepsy cortical malformations Tags
Red Red List (low evidence)	ATAD3B Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	Unknown	Sources Expert Review Red Phenotypes Influence on AIDS progression No OMIM phenotype Tags
Red Red List (low evidence)	ATP5C1 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags new-gene-name
Red Red List (low evidence)	ATP5G1 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags new-gene-name
Red Red List (low evidence)	ATP5G2 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags new-gene-name
Red Red List (low evidence)	ATP5I Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags new-gene-name
Red Red List (low evidence)	ATP5J Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags new-gene-name
Red Red List (low evidence)	ATXN7 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 red	Other	Sources London North GLH NHS GMS Expert Review Red Phenotypes Spinocerebellar ataxia 7, OMIM:164500 Mitochondrial respiratory chain disorders (caused by nuclear variants only) Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	BCAT1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria) Tags
Red Red List (low evidence)	BCORL1 Early onset or syndromic epilepsy v4.196	2 reviews 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Wessex and West Midlands GLH NHS GMS Literature Phenotypes Intellectual disability and seizures Shukla-Vernon syndrome, 301029 Tags
Red Red List (low evidence)	BET1 Early onset or syndromic epilepsy v4.196	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Epilepsy, MONDO:0005027 Tags
Red Red List (low evidence)	BOLA1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	BOLA2 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	C1GALT1C1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	Other - please specify in evaluation comments	Sources London North GLH NHS GMS Expert Review Red Phenotypes COSMC-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies) Tn polyagglutination syndrome, somatic Tn polyagglutination syndrome, somatic 300622 Tags
Red Red List (low evidence)	CAD Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?Congenital disorder of glycosylation, type Iz 616457 Tags
Red Red List (low evidence)	CAMK2G Early onset or syndromic epilepsy v4.196	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Red Literature Phenotypes Early infantile epileptic encephalopathy Tags
Red Red List (low evidence)	CAMLG Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Congenital disorder of glycosylation, type IIz, OMIM:620201 Tags
Red Red List (low evidence)	CAMLG Early onset or syndromic epilepsy v4.196	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Congenital disorder of glycosylation, type IIz, OMIM:620201 Tags
Red Red List (low evidence)	CASR Early onset or syndromic epilepsy v4.196	2 reviews 1 red	Not set	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Radboud University Medical Center, Nijmegen Phenotypes Hypocalciuric hypercalcemia, type I, 145980Hyperparathyroidism, neonatal, 239200Hypocalcemia, autosomal dominant, 601198Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198{Epilepsy idiopathic generalized, susceptibility to, 8}, 612899Hypercalciuric hypercalcemia{Calcium, serum level of} Tags
Red Red List (low evidence)	CBL Early onset or syndromic epilepsy v4.196	9 reviews 4 red	Not set	Sources Wessex and West Midlands GLH NHS GMS Expert Review Red Expert Review Tags
Red Red List (low evidence)	CCDC186 Early onset or syndromic epilepsy v4.196	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Epileptic encephalopathy Tags watchlist
Red Red List (low evidence)	CCND2 Early onset or syndromic epilepsy v4.196	4 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938 Tags
Red Red List (low evidence)	CD320 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes Methylmalonic aciduria due to transcobalamin receptor defect Tags
Red Red List (low evidence)	CEP89 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red Phenotypes isolated complex IV deficiency, intellectual disability and multisystemic problems Tags
Red Red List (low evidence)	CETP Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Red Phenotypes [High density lipoprotein cholesterol level QTL 10] 143470 Familial hyperalphalipoproteinaemia (Disorders of high density lipoprotein metabolism) Hyperalphalipoproteinemia 143470 Tags
Red Red List (low evidence)	CHMP3 Early onset or syndromic epilepsy v4.196	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Complex spastic quadriplegia associated with developmental delay and seizures Tags
Red Red List (low evidence)	CHRM1 Early onset or syndromic epilepsy v4.196	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Neurodevelopmental delay intellectual disability, MONDO:0001071 autism Tags
Red Red List (low evidence)	CLCN2 Early onset or syndromic epilepsy v4.196	4 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS Expert Review Red NIHRBR-RD Consortium SPEED_v3.0_20170404 Literature Literature Phenotypes {Epilepsy, juvenile myoclonic, susceptibility to, 8}, OMIM:607628 {Epilepsy, juvenile absence, susceptibility to, 2}, OMIM:607628 {Epilepsy, idiopathic generalized, susceptibility to, 11}, OMIM:607628 Tags
Red Red List (low evidence)	CLCN6 Early onset or syndromic epilepsy v4.196	4 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Red Literature Tags
Red Red List (low evidence)	CLCN6 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Other Phenotypes Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities OMIM:619173 Tags
Red Red List (low evidence)	CLN5 Early onset or syndromic epilepsy v4.196	6 reviews 4 red	Not set	Sources Wessex and West Midlands GLH NHS GMS Expert Expert Review Red Tags
Red Red List (low evidence)	CLPS Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes Pancreatic colipase deficiency (Other disorders of lipid and lipoprotein metabolism) Tags
Red Red List (low evidence)	CNDP1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes Carnosinaemia (Other disorders of peptide metabolism) Tags
Red Red List (low evidence)	CNTN2 Early onset or syndromic epilepsy v4.196	2 reviews	Not set	Sources Wessex and West Midlands GLH NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Epilepsy, familial adult myoclonic, 5 Tags
Red Red List (low evidence)	COA1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	COA5 Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Expert Review Red Victorian Clinical Genetics Services Phenotypes ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500 Tags
Red Red List (low evidence)	COG2 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?Congenital disorder of glycosylation, type IIq, 617395 Tags
Red Red List (low evidence)	COX4I1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	Unknown	Sources Expert Review Red Phenotypes Mitochondrial Diseases No OMIM phenotype Tags
Red Red List (low evidence)	COX5B Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	COX6C Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	COX7A1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	COX7A2 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	COX7B2 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	Unknown	Sources Expert Review Red Phenotypes ?{Nasopharyngeal carcinoma, susceptibility to}, 607107 Tags
Red Red List (low evidence)	COX7C Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	COX8A Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?Mitochondrial complex IV deficiency 220110 Tags
Red Red List (low evidence)	CPA6 Early onset or syndromic epilepsy v4.196	10 reviews 2 green 3 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Epilepsy, familial temporal lobe, 5 614417 AR, AD Febrile seizures, familial, 11 614418 Tags refuted
Red Red List (low evidence)	CRH Early onset or syndromic epilepsy v4.196	6 reviews 5 red	Not set	Sources Wessex and West Midlands GLH NHS GMS Expert Review Red Expert Tags
Red Red List (low evidence)	CSNK2A1 Early onset or syndromic epilepsy v4.196	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Red Literature Phenotypes Okur-Chung neurodevelopmental syndrome, OMIM:617062 Tags
Red Red List (low evidence)	CYP7A1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes Cholesterol 7-alpha-hydroxylase deficiency (Disorders of bile acid biosynthesis) Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency Tags
Red Red List (low evidence)	DDOST Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?Congenital disorder of glycosylation, type Ir 614507 Tags
Red Red List (low evidence)	DHFR2 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	DLST Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes No OMIM phenotype?Familial Alzheimer disease Tags
Red Red List (low evidence)	DMBX1 Early onset or syndromic epilepsy v4.196	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Red Literature Phenotypes global developmental delay, intellectual disability, and epilepsy Tags
Red Red List (low evidence)	DMGDH Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes Dimethylglycine dehydrogenase deficiency 605850 Dimethylglycinuria (Disorders and variants of enzymes that oxidise xenobiotics other than cytochrome P450) Tags
Red Red List (low evidence)	DPEP1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes Cysteinylglycinase deficiency (Disorders of the gamma-glutamyl cycle) Tags
Red Red List (low evidence)	DTD1 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	ECSIT Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	Unknown	Sources Expert Review Red Expert Review Red Phenotypes No OMIM phenotype Isolated complex I deficiency Tags
Red Red List (low evidence)	EGF Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes Hypomagnesaemia type 4, renal (Disorder of magnesium metabolism) Tags
Red Red List (low evidence)	EIF2A Early onset or syndromic epilepsy v4.196	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Intellectual disability Seizures ASD Tags
Red Red List (low evidence)	ERCC6L2 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	FAR1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154 Tags
Red Red List (low evidence)	FBP2 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	Unknown	Sources Expert Review Red Phenotypes isolated lactic acidosis Tags
Red Red List (low evidence)	FIG4 Early onset or syndromic epilepsy v4.196	4 reviews 1 red	Not set	Sources Wessex and West Midlands GLH NHS GMS Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	FOLR2 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	FOLR3 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	FTL Early onset or syndromic epilepsy v4.196	3 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes L-ferritin deficiency, dominant and recessive 615604 Tags
Red Red List (low evidence)	FXYD2 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes Hypomagnesemia 2, renal 154020 Hypomagnesaemia type 2, renal (Disorder of magnesium metabolism) Tags
Red Red List (low evidence)	GAL Early onset or syndromic epilepsy v4.196	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Red Literature Phenotypes ?Epilepsy, familial temporal lobe, 8 616461 Tags
Red Red List (low evidence)	GALNT12 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Red Phenotypes (GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)) GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies) {Colorectal cancer, susceptibility to, 1} 608812 Tags
Red Red List (low evidence)	GATAD2B Early onset or syndromic epilepsy v4.196	8 reviews 5 red	Not set	Sources Wessex and West Midlands GLH NHS GMS Expert Review Red Expert Review Tags
Red Red List (low evidence)	GATB Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?Combined oxidative phosphorylation deficiency 41, OMIM:618838 Tags
Red Red List (low evidence)	GATM Early onset or syndromic epilepsy v4.196	8 reviews 6 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Expert Review Red Phenotypes Cerebral creatine deficiency syndrome 3, OMIM:612718 Tags
Red Red List (low evidence)	GGT1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes Gamma-glutamyl transpeptidase deficiency Glutathionuria (Disorders of the gamma-glutamyl cycle) Tags
Red Red List (low evidence)	GLRB Early onset or syndromic epilepsy v4.196	7 reviews 5 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Red Expert Phenotypes Hyperekplexia 2, 614619 Tags
Red Red List (low evidence)	GLS_GCA STR Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412 Tags NGS Not Validated STR
Red Red List (low evidence)	GNB2 Early onset or syndromic epilepsy v4.196	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Sturge-Weber syndrome, somatic, mosaic, OMIM:185300 Tags somatic
Red Red List (low evidence)	HAL Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Red Phenotypes Histidinaemia (Disorders of histidine, tryptophan or lysine metabolism) Tags
Red Red List (low evidence)	HYKK Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes Hydroxylysinuria (Disorders of histidine, tryptophan or lysine metabolism) Tags
Red Red List (low evidence)	IDH2 Early onset or syndromic epilepsy v4.196	5 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH NHS GMS Expert Review Phenotypes D-2-hydroxyglutaric aciduria 2, 613657 Tags
Red Red List (low evidence)	IDH3B Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	INO80 Early onset or syndromic epilepsy v4.196	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Red Literature Phenotypes Intellectual disability, epilepsy and primary microcephaly Tags
Red Red List (low evidence)	KCTD7 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Other Phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions OMIM:611726 progressive myoclonic epilepsy type 3 MONDO:0012721 Tags
Red Red List (low evidence)	KHK Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes Essential fructosuria (Disorders of fructose metabolism) Tags
Red Red List (low evidence)	KMT5B Early onset or syndromic epilepsy v4.196	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Literature Phenotypes Mental retardation, autosomal dominant 51, 617788 Tags
Red Red List (low evidence)	LACTB Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	LFNG Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) ?Spondylocostal dysostosis 3, autosomal recessive 609813 ?Spondylocostal dysostosis 3, autosomal recessive, 609813 LFNG-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Tags
Red Red List (low evidence)	LIPI Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Red Phenotypes {Hypertriglyceridemia, susceptibility to}, 145750 Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias) Tags
Red Red List (low evidence)	LMNB2 Early onset or syndromic epilepsy v4.196	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Wessex and West Midlands GLH Phenotypes ?Epilepsy, progressive myoclonic, 9, OMIM:616540 Tags
Red Red List (low evidence)	MAGI2 Early onset or syndromic epilepsy v4.196	12 reviews 6 green 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH NHS GMS UKGTN Phenotypes Nephrotic syndrome, type 15 617609 Infantile Spasms Tags cnv refuted
Red Red List (low evidence)	MAPK10 Early onset or syndromic epilepsy v4.196	9 reviews 4 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS Expert Review Red Illumina TruGenome Clinical Sequencing Services Expert Phenotypes Epileptic Encephalopathy EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE Tags
Red Red List (low evidence)	MATN4 Early onset or syndromic epilepsy v4.196	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Red Literature Phenotypes Global developmental delay, holoprosencephaly, microcephaly, lumbosacral myelomeningocele, epilepsy, proptosis, and diabetes insipidus Tags
Red Red List (low evidence)	MCM3AP Early onset or syndromic epilepsy v4.196	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development 618124 Tags
Red Red List (low evidence)	MRPL12 Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 1 green 2 red	Unknown	Sources Expert list Expert Review Red Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) No OMIM phenotype Tags
Red Red List (low evidence)	MRPL40 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 red	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	MRPS23 Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes hepatic disease and combined respiratory chain complex deficiencies Tags
Red Red List (low evidence)	MT-CO3 Early onset or syndromic epilepsy v4.196	1 review	MITOCHONDRIAL	Sources Expert Review Red Literature Phenotypes seizures Tags
Red Red List (low evidence)	MT-TL1 Early onset or syndromic epilepsy v4.196	6 reviews 5 red	MITOCHONDRIAL	Sources Wessex and West Midlands GLH NHS GMS UKGTN Expert Review Red Tags
Red Red List (low evidence)	MTHFD1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes {Abruptio placentae, susceptibility to} {Spina bifida, folate-sensitive, susceptibility to} 601634 AR Tags
Red Red List (low evidence)	MYO1H Early onset or syndromic epilepsy v4.196	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Red Phenotypes ?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction OMIM:619482 Tags
Red Red List (low evidence)	NAT8L Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?N-acetylaspartate deficiency 614063 Tags
Red Red List (low evidence)	NDUFA11 Early onset or syndromic epilepsy v4.196	3 reviews	Not set	Sources Wessex and West Midlands GLH NHS GMS Expert Review Red Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency 252010 Tags
Red Red List (low evidence)	NDUFA3 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Isolated complex I deficiency Tags
Red Red List (low evidence)	NDUFA5 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Isolated complex I deficiency Tags
Red Red List (low evidence)	NDUFA7 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Isolated complex I deficiency Tags
Red Red List (low evidence)	NDUFAB1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Isolated complex I deficiency Tags
Red Red List (low evidence)	NDUFB1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Isolated complex I deficiency Tags
Red Red List (low evidence)	NDUFB2 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	Unknown	Sources Expert Review Red Phenotypes Isolated complex I deficiency Tags
Red Red List (low evidence)	NDUFB4 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Isolated complex I deficiency Tags
Red Red List (low evidence)	NDUFB5 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	Unknown	Sources Expert Review Red Phenotypes Isolated complex I deficiency Tags
Red Red List (low evidence)	NDUFB6 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	Unknown	Sources Expert Review Red Phenotypes Isolated complex I deficiency Tags
Red Red List (low evidence)	NDUFC1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Isolated complex I deficiency Tags
Red Red List (low evidence)	NDUFS5 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	Unknown	Sources Expert Review Red Phenotypes Mitochondrial Diseases No OMIM phenotype Isolated complex I deficiency Tags
Red Red List (low evidence)	NDUFV3 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	Unknown	Sources Expert Review Red Phenotypes Mitochondrial Diseases No OMIM phenotype Isolated complex I deficiency Tags
Red Red List (low evidence)	NID1 Early onset or syndromic epilepsy v4.196	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Red Literature Phenotypes Hydrocephalus, focal epilepsy and hemiparesis Tags
Red Red List (low evidence)	NRAS Early onset or syndromic epilepsy v4.196	4 reviews 1 red	Not set	Sources Wessex and West Midlands GLH NHS GMS Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	NT5C Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes Pyrimidine - 5 - nucleotidase deficiency (Disorders of pyrimidine metabolism) Tags
Red Red List (low evidence)	NUP62 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes Infantile striatal necrosis (Other metabolic disorders) Striatonigral degeneration, infantile, 271930 Tags
Red Red List (low evidence)	OSTC Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Oligosaccharyltransferase complex-congenital disorders of glycosylation Tags
Red Red List (low evidence)	OXA1L Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	Unknown	Sources Expert Review Red Expert Review Red Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	PCDHB4 Early onset or syndromic epilepsy v4.196	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Red Literature Phenotypes Intellectual disability, microcephaly and epilepsy Tags
Red Red List (low evidence)	PCLO Early onset or syndromic epilepsy v4.196	5 reviews 3 red	Not set	Sources Expert Review Red Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	PCYT2 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Global developmental delay Developmental regression Intellectual disability Spastic paraparesis Seizures Spastic tetraparesis Cerebral atrophy Cerebellar atrophy Tags
Red Red List (low evidence)	PDK1 Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green 1 red	Unknown	Sources Expert Review Red London North GLH NHS GMS Phenotypes No OMIM phenotype Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) Tags
Red Red List (low evidence)	PDK2 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes No OMIM phenotype Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) Tags
Red Red List (low evidence)	PDK4 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes No OMIM phenotype Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) Tags
Red Red List (low evidence)	PDP2 Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) Tags
Red Red List (low evidence)	PDPR Likely inborn error of metabolism - targeted testing not possible v4.137	5 reviews 1 green 1 red	Unknown	Sources Expert Review Red London North GLH NHS GMS Phenotypes Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) Tags
Red Red List (low evidence)	PDXK Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes Pryridoxal kinase deficiency (Disorders of pyridoxine metabolism) Tags
Red Red List (low evidence)	PEX11A Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	Unknown	Sources Expert Review Red Literature Phenotypes Zellweger syndrome peroxisome proliferation mild peroxisomal biogenesis defect Tags
Red Red List (low evidence)	PHKG1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	PHYKPL Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes Hydroxylysinuria (Disorders of histidine, tryptophan or lysine metabolism) [?Phosphohydroxylysinuria] 615011 Tags
Red Red List (low evidence)	PIGW Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?Hyperphosphatasia with mental retardation syndrome 5 Tags
Red Red List (low evidence)	PIK3CA Early onset or syndromic epilepsy v4.196	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501 Tags mosaicism somatic
Red Red List (low evidence)	PNLIP Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes Pancreatic triacylglycerol lipase deficiency (Other disorders of lipid and lipoprotein metabolism) Pancreatic lipase deficiency 614338 Tags
Red Red List (low evidence)	PNPLA4 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	POP1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	PPM1B Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes Hypotonia-cystinuria syndrome (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Red Red List (low evidence)	PPM1K Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	Unknown	Sources Expert Review Red Phenotypes ?Maple syrup urine disease, mild variant 615135 Tags
Red Red List (low evidence)	PRDM8 Early onset or syndromic epilepsy v4.196	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Wessex and West Midlands GLH Phenotypes ?Epilepsy, progressive myoclonic, 10, 616640 Tags
Red Red List (low evidence)	PREPL Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes Hypotonia-cystinuria syndrome 606407 Hypotonia-cystinuria syndrome (Disorders of amino acid transport) Tags
Red Red List (low evidence)	PRICKLE2 Early onset or syndromic epilepsy v4.196	6 reviews 4 red	Not set	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Expert Expert Review Red Tags
Red Red List (low evidence)	PSMB8 Early onset or syndromic epilepsy v4.196	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Red Expert list Phenotypes Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040 Tags
Red Red List (low evidence)	PTCD1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	Unknown	Sources Expert Review Red Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Red Red List (low evidence)	PTCH1 Early onset or syndromic epilepsy v4.196	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Red Wessex and West Midlands GLH Phenotypes Holoprosencephaly 7, OMIM:610828 Tags
Red Red List (low evidence)	PTPRZ1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes Hyperlysinaemia (Disorders of histidine, tryptophan or lysine metabolism) {H. pylori infection, susceptibility to} 600263 Tags
Red Red List (low evidence)	RALGAPB Early onset or syndromic epilepsy v4.196	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorders, autism Tags
Red Red List (low evidence)	RNASEH2A Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Intellectual disability Intracerebral calcification disorders (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS4 Inherited white matter disorders Tags Q1_24_NHS_review Q1_24_promote_green
Red Red List (low evidence)	RNASEH2B Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Aicardi-Goutieres syndrome 2, OMIM:610181 Tags Q1_24_NHS_review Q1_24_promote_green
Red Red List (low evidence)	RNASEH2C Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Intellectual disability (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS3 Intracerebral calcification disorders Inherited white matter disorders Tags Q1_22_NHS_review Q1_24_promote_green
Red Red List (low evidence)	ROBO3 Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 Tags
Red Red List (low evidence)	RUBCN Early onset or syndromic epilepsy v4.196	4 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Phenotypes Spinocerebellar ataxia, autosomal recessive 15, OMIM:615705 Tags
Red Red List (low evidence)	RYR3 Early onset or syndromic epilepsy v4.196	8 reviews 5 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Red Expert Review Phenotypes Epileptic encephalopathy Tags
Red Red List (low evidence)	SARDH Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes [Sarcosinemia] 268900 Sarcosinaemia (Disorders of serine, glycine or glycerate metabolism) Tags
Red Red List (low evidence)	SCARB1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes [High density lipoprotein cholesterol level QTL6] 610762 Scavenger receptor class B type I deficiency (Inherited hypolipidaemias) Tags
Red Red List (low evidence)	SCN2B Early onset or syndromic epilepsy v4.196	6 reviews 5 red	Not set	Sources Wessex and West Midlands GLH NHS GMS Expert Review Red Expert Tags
Red Red List (low evidence)	SCN9A Early onset or syndromic epilepsy v4.196	11 reviews 7 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red North West GLH Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Expert Phenotypes Epilepsy, generalized, with febrile seizures plus, type 7 613863 Febrile seizures, familial, 3B 613863 {Dravet syndrome, modifier of} 607208 Tags
Red Red List (low evidence)	SEC24D Early onset or syndromic epilepsy v4.196	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Red Literature Phenotypes Intellectual disability and epilepsy Tags
Red Red List (low evidence)	SEC31A Early onset or syndromic epilepsy v4.196	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies 618651 Tags watchlist
Red Red List (low evidence)	SHH Early onset or syndromic epilepsy v4.196	4 reviews	Not set	Sources Wessex and West Midlands GLH NHS GMS Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	SHPK Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes Sedoheptulokinase deficiency (Other metabolic disorders) [Sedoheptulokinase deficiency] 617213 Tags
Red Red List (low evidence)	SLC22A4 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	SLC25A19 Early onset or syndromic epilepsy v4.196	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Wessex and West Midlands GLH Phenotypes Microcephaly, Amish type, 607196 Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 Tags
Red Red List (low evidence)	SLC25A2 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism) Tags
Red Red List (low evidence)	SLC25A40 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	SLC26A6 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Enteric hyperoxaluria and nephrolithiasis Tags watchlist
Red Red List (low evidence)	SLC27A5 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes Bile acid CoA ligase deficiency (Disorders of bile acid biosynthesis) Tags
Red Red List (low evidence)	SLC35A3 Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Arthrogryposis, mental retardation, and seizures Tags
Red Red List (low evidence)	SLC36A2 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes Iminoglycinuria, digenic 242600 Hyperglycinuria 138500 Hyperglycinuria AR Tags
Red Red List (low evidence)	SLC52A1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Riboflavin deficiency 615026 Tags
Red Red List (low evidence)	SLC5A6 Early onset or syndromic epilepsy v4.196	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Neurodegeneration, infantile-onset, biotin-responsive, OMIM:618973 Tags
Red Red List (low evidence)	SLC6A19 Early onset or syndromic epilepsy v4.196	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH NHS GMS UKGTN Radboud University Medical Center, Nijmegen Literature Expert Review Phenotypes Hartnup disorder, 234500 Tags
Red Red List (low evidence)	SLC6A5 Early onset or syndromic epilepsy v4.196	8 reviews 4 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Red Expert Phenotypes Hyperekplexia 3, 614618 Tags
Red Red List (low evidence)	SLC7A6OS Early onset or syndromic epilepsy v4.196	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Epilepsy, progressive myoclonic, 12 OMIM:619191 Tags founder-effect
Red Red List (low evidence)	SLCO1B1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Hyperbilirubinemia, Rotor type, digenic Tags
Red Red List (low evidence)	SLCO1B3 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Hyperbilirubinemia, Rotor type, digenic Tags
Red Red List (low evidence)	SRPX2 Early onset or syndromic epilepsy v4.196	8 reviews 6 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Wessex and West Midlands GLH NHS GMS Expert Phenotypes ?Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, OMIM:300643 Tags
Red Red List (low evidence)	SRRT Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 red	Unknown	Sources Expert Review Red Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Red Red List (low evidence)	STIL Early onset or syndromic epilepsy v4.196	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Wessex and West Midlands GLH Phenotypes Microcephaly 7, primary, 612703 Tags
Red Red List (low evidence)	STT3B Likely inborn error of metabolism - targeted testing not possible v4.137	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?Congenital disorder of glycosylation, type Ix 615597 Tags
Red Red List (low evidence)	SUCLG2 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes Succinyl-CoA synthetase deficiency (Other metabolic disorders) No OMIM phenotype Tags
Red Red List (low evidence)	SUGCT Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes Glutaric aciduria type III (Organic acidurias) Glutaric aciduria type III 231690 Tags
Red Red List (low evidence)	TCN1 Likely inborn error of metabolism - targeted testing not possible v4.137	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes Haptocorrin deficiency (Disorders of cobalamin absorption, transport and metabolism) No OMIM number Tags
Red Red List (low evidence)	TDO2 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes No OMIM number Tryptophanaemia (Disorders of histidine, tryptophan or lysine metabolism) Tags
Red Red List (low evidence)	TGIF1 Early onset or syndromic epilepsy v4.196	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Red Wessex and West Midlands GLH Phenotypes Holoprosencephaly 4, 142946 Tags
Red Red List (low evidence)	TIMM44 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	TM6SF2 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes non-alcoholic fatty liver disease Tags
Red Red List (low evidence)	TMEM126A Likely inborn error of metabolism - targeted testing not possible v4.137	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Optic atrophy 7 612989 Tags
Red Red List (low evidence)	TPMT Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes Thiopurine S-methyltransferase deficiency (Disorders of purine metabolism) {Thiopurines, poor metabolism of, 1} 610460 Tags
Red Red List (low evidence)	TREH Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes Trehalase deficiency (Other carbohydrate disorders) Tags
Red Red List (low evidence)	TUBA3E Early onset or syndromic epilepsy v4.196	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Red Literature Phenotypes Global developmental delay, primary microcephaly, lissencephaly, epilepsy Tags
Red Red List (low evidence)	TXN2 Early onset or syndromic epilepsy v4.196	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes ?Combined oxidative phosphorylation deficiency 29, 616811 infantile-onset neurodegenerative disorder with severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy Tags
Red Red List (low evidence)	TXN2 Likely inborn error of metabolism - targeted testing not possible v4.137	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes infantile-onset neurodegenerative disorder with severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy ?Combined oxidative phosphorylation deficiency 29 Tags
Red Red List (low evidence)	UNC13B Early onset or syndromic epilepsy v4.196	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes partial epilepsy, MONDO:0005384 Tags
Red Red List (low evidence)	UQCRH Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	USF1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes Familial combined hyperlipoproteinaemia (Inherited mixed hyperlipidaemias) Tags
Red Red List (low evidence)	VPS13C Likely inborn error of metabolism - targeted testing not possible v4.137	5 reviews 1 green 2 red	Unknown	Sources Expert Review Red Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	ZIC2 Early onset or syndromic epilepsy v4.196	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Red Wessex and West Midlands GLH Phenotypes Holoprosencephaly 5, 609637 Tags
No list No list	IDH1 Likely inborn error of metabolism - targeted testing not possible v4.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Failure to thrive Psychomotor delay Feeding difficulties Increased D-2-Hydroxyglutaric acid in urine Tags
No list No list	PROSC Early onset or syndromic epilepsy v4.196	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Victorian Clinical Genetics Services Phenotypes Epilepsy, early-onset, vitamin B6-dependent 617290 Tags curated_removed new-gene-name

Major version comments

2018-12-20 14:16 Ellen McDonagh (Genomics England Curator) promoted panel to 1.0
Promoting to Version 1 to allow a super panel to be built.

Epilepsy - early onset or syndromic (Version 8.371)

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