Unexplained death in infancy and sudden unexplained death in childhood (Version 6.299)

The latest signed off version for the GMS is v6.2. The current version, shown here, may differ from the signed-off version.

Description

This panel is used for clinical indication 'R441 Unexplained death in infancy and sudden unexplained death in childhood'.

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 'R441 Unexplained death in infancy and sudden unexplained death in childhood'.

This panel is a super panel composed of constituent panels.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This is comprised of:
R59 Early onset or syndromic epilepsy version 4.0 : https://panelapp.genomicsengland.co.uk/api/v1/panels/402/?version=4.0
R98 Likely inborn error of metabolism - targeted testing not possible version 4.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/467/?version=4.0
R127 Long QT syndrome version 3.1 : https://panelapp.genomicsengland.co.uk/api/v1/panels/76/?version=3.1
R135 Paediatric or syndromic cardiomyopathy' version 3.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/749/?version=3.0

This panel is a super panel composed of the constituent panel(s) as defined in the link(s) above. Changes made to the constituent panel(s) will automatically be updated in the super panel and the version will be updated.

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

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

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

2004 Entities

1865 reviewed, 1433 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 2004 Entitiess
Green Green List (high evidence)	AARS Early onset or syndromic epilepsy v4.133	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 Paediatric or syndromic cardiomyopathy v3.43	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 8, 614096 infantile mitochondrial cardiomyopathy 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)	AARS2 Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.77	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 v4.77	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 v4.133	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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)	ABCC9 Paediatric or syndromic cardiomyopathy v3.43	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS South West GLH Expert Review Green Phenotypes Dilated Cardiomyopathy, Dominant Cardiomyopathy, dilated, 1O Tags
Green Green List (high evidence)	ABCD1 Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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)	ACAD9 Paediatric or syndromic cardiomyopathy v3.43	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources MetBioNet Expert Review Green NHS GMS Expert Review Green Phenotypes Mitochondrial complex I deficiency, nuclear type 20, 611126 Tags
Green Green List (high evidence)	ACADM Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.77	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 v4.77	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 v4.77	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)	ACADVL Paediatric or syndromic cardiomyopathy v3.43	4 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS South West GLH MetBioNet Expert Review Green Expert Review Green MetBioNet South West GLH Phenotypes VLCAD deficiency Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation) syndromic HCM Liver disease, hepatomegaly, hypoketotic hypoglycaemia Very long chain acyl-CoA dehydrogenase deficiency (VLCADD) (severe form) DCM, mixed HCM Tags
Green Green List (high evidence)	ACAT1 Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.77	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 v4.77	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 v4.133	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 v4.77	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)	ACTA1 Paediatric or syndromic cardiomyopathy v3.43	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS South West GLH London South GLH Expert Review Green Phenotypes Dilated cardiomyopathy, MONDO:0005021 Hypertrophic cardiomyopathy, MONDO:0005045 Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800 CMD with rigid spine Myopathy, congenital, with fiber-type disproportion 1, OMIM:255310 Tags
Green Green List (high evidence)	ACTC1 Paediatric or syndromic cardiomyopathy v3.43	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS South West GLH London South GLH Expert Review Green Phenotypes Hypertrophic Cardiomyopathy Cardiomyopathy, familial hypertrophic, 11 Cardiomyopathy, dilated, 1R Left Ventricular Noncompaction Cardiomyopathy Left ventricular noncompaction 4 Tags
Green Green List (high evidence)	ACTL6B Early onset or syndromic epilepsy v4.133	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)	ACTN2 Paediatric or syndromic cardiomyopathy v3.43	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS South West GLH London South GLH Expert Review Green Phenotypes Dilated Cardiomyopathy, Dominant Tags
Green Green List (high evidence)	ACY1 Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.77	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Combined B and T cell defect Adenosine deaminase deficiency (Disorders of purine metabolism) SCID Infantile enterocolitis & monogenic inflammatory bowel disease Tags
Green Green List (high evidence)	ADAR Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 Likely inborn error of metabolism - targeted testing not possible v4.77	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)	ADSL Early onset or syndromic epilepsy v4.133	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)	AFF3 Early onset or syndromic epilepsy v4.133	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 v4.77	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 v4.77	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 v4.77	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)	AGK Paediatric or syndromic cardiomyopathy v3.43	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Sengers syndrome, 212350 Tags
Green Green List (high evidence)	AGL Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.133	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 v4.77	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 v4.133	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 v4.77	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 v4.77	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 Erythropoietic protoporphyria, mild variant X-linked sideroblastic anaemia (XLSA) (Porphyrias with acute painful photosensitivity) X-linked dominant protoporphyria (Porphyrias with acute painful photosensitivity) Tags
Green Green List (high evidence)	ALDH18A1 Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.77	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 v4.77	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 Early onset or syndromic epilepsy v4.133	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)	ALDH5A1 Likely inborn error of metabolism - targeted testing not possible v4.77	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)	ALDH6A1 Likely inborn error of metabolism - targeted testing not possible v4.77	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 Likely inborn error of metabolism - targeted testing not possible v4.77	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)	ALDH7A1 Early onset or syndromic epilepsy v4.133	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)	ALDOA Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.77	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 v4.133	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 v4.77	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 v4.77	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 v4.133	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 v4.77	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 v4.133	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 Likely inborn error of metabolism - targeted testing not possible v4.77	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)	ALG14 Early onset or syndromic epilepsy v4.133	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)	ALG3 Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.133	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 v4.133	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 v4.77	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 v4.77	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 v4.133	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 v4.133	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 v4.77	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 v4.133	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)	ALMS1 Paediatric or syndromic cardiomyopathy v3.43	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Phenotypes OMIM 203800 Tags
Green Green List (high evidence)	ALPK3 Paediatric or syndromic cardiomyopathy v3.43	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Cardiomyopathy, familial hypertrophic 27, 618052 Tags
Green Green List (high evidence)	ALPL Early onset or syndromic epilepsy v4.133	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 drug-indication
Green Green List (high evidence)	ALPL Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.77	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 v4.77	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 v4.133	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 v4.77	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 v4.133	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 v4.133	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 v4.77	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.133	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 v4.133	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 v4.133	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 v4.77	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 v4.133	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 v4.133	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 v4.133	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 v4.77	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 v4.77	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 v4.77	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 v4.133	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 v4.133	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 v4.133	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 v4.77	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 v4.133	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 v4.77	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Argininosuccinic aciduria Argininosuccinic aciduria (Urea cycle disorders and inherited hyperammonaemias) Tags
Green Green List (high evidence)	ASNS Early onset or syndromic epilepsy v4.133	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 v4.77	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 v4.133	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 v4.77	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 v4.133	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 v4.77	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 v4.77	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 v4.133	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 v4.133	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 v4.77	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 v4.133	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 v4.133	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 v4.133	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.133	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 v4.77	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 v4.133	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 v4.77	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 v4.133	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 v4.133	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 v4.133	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.133	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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)	BAG3 Paediatric or syndromic cardiomyopathy v3.43	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS South West GLH London South GLH Expert Review Green Phenotypes Cardiomyopathy, dilated, 1HH Tags
Green Green List (high evidence)	BAP1 Early onset or syndromic epilepsy v4.133	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 v4.77	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 v4.77	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 v4.133	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 Likely inborn error of metabolism - targeted testing not possible v4.77	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)	BCKDHB Early onset or syndromic epilepsy v4.133	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)	BCKDK Likely inborn error of metabolism - targeted testing not possible v4.77	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 Likely inborn error of metabolism - targeted testing not possible v4.77	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)	BCS1L Early onset or syndromic epilepsy v4.133	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)	BOLA3 Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 Likely inborn error of metabolism - targeted testing not possible v4.77	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)	BTD Early onset or syndromic epilepsy v4.133	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)	C12orf57 Early onset or syndromic epilepsy v4.133	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.133	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 v4.77	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 v4.133	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 v4.133	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 Long QT syndrome v3.7	8 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH North West GLH Expert Review Green UKGTN Emory Genetics Laboratory Expert list Phenotypes Timothy syndrome, OMIM:601005 Timothy syndrome, MONDO:0010979 Long QT syndrome 8, OMIM:618447 long qt syndrome 8, MONDO:0032756 Brugada syndrome 3, OMIM:611875 Brugada syndrome 3, MONDO:0012742 CACNA1C-related disorder Tags
Green Green List (high evidence)	CACNA1C Paediatric or syndromic cardiomyopathy v3.43	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Phenotypes Timothy syndrome, OMIM:601005 Timothy syndrome, MONDO:0010979 Long QT syndrome 8, OMIM:618447 long qt syndrome 8, MONDO:0032756 Brugada syndrome 3, OMIM:611875 Brugada syndrome 3, MONDO:0012742 CACNA1C-related disorder Tags
Green Green List (high evidence)	CACNA1C Early onset or syndromic epilepsy v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	10 reviews 1 green 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 refuted
Green Green List (high evidence)	CAD Early onset or syndromic epilepsy v4.133	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)	CALM1 Long QT syndrome v3.7	6 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green South West GLH London South GLH Oxford Medical Genetics Laboratory Phenotypes Long QT syndrome 14 Ventricular tachycardia, catecholaminergic polymorphic, 4 Tags
Green Green List (high evidence)	CALM2 Long QT syndrome v3.7	6 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green South West GLH Oxford Medical Genetics Laboratory Phenotypes Long QT syndrome 15, OMIM:616249 long QT syndrome 15, MONDO:0014550 Tags
Green Green List (high evidence)	CALM3 Long QT syndrome v3.7	6 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green South West GLH Oxford Medical Genetics Laboratory Phenotypes ?Ventricular tachycardia, catecholaminergic polymorphic 6, 618782 Long QT syndrome 16,618782 Tags
Green Green List (high evidence)	CAPRIN1 Early onset or syndromic epilepsy v4.133	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Literature Phenotypes Global developmental delay Delayed speech and language development Intellectual disability Autistic behavior Seizures Tags gene-checked
Green Green List (high evidence)	CARS2 Early onset or syndromic epilepsy v4.133	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)	CARS2 Likely inborn error of metabolism - targeted testing not possible v4.77	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)	CASK Early onset or syndromic epilepsy v4.133	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 v4.77	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 v4.77	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 v4.133	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 v4.77	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIo 616828 Tags
Green Green List (high evidence)	CDH2 Paediatric or syndromic cardiomyopathy v3.43	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Tags
Green Green List (high evidence)	CDK19 Early onset or syndromic epilepsy v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.77	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.77	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 v4.133	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 v4.133	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 v4.133	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.133	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 v4.77	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 v4.133	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 v4.133	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 v4.77	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 v4.77	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 v4.133	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 v4.133	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 v4.77	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 v4.77	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 v4.77	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 Early onset or syndromic epilepsy v4.133	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)	CLN8 Likely inborn error of metabolism - targeted testing not possible v4.77	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)	CLPB Likely inborn error of metabolism - targeted testing not possible v4.77	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)	CLPB Early onset or syndromic epilepsy v4.133	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)	CLPP Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.133	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 v4.133	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 v4.133	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 v4.77	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 v4.133	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 v4.133	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)	COA5 Paediatric or syndromic cardiomyopathy v3.43	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green South West GLH NHS GMS Phenotypes Isolated complex IV deficiency Mitochondrial complex IV deficiency, 220110 Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) syndromic HCM ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 Tags
Green Green List (high evidence)	COA6 Paediatric or syndromic cardiomyopathy v3.43	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources MetBioNet Expert Review Green Expert Review Green NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 13, OMIM:616501 Tags
Green Green List (high evidence)	COA6 Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 Likely inborn error of metabolism - targeted testing not possible v4.77	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)	COG7 Early onset or syndromic epilepsy v4.133	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)	COG8 Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.133	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 v4.133	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 v4.133	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 Likely inborn error of metabolism - targeted testing not possible v4.77	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)	COQ2 Early onset or syndromic epilepsy v4.133	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)	COQ4 Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.133	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 v4.77	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 v4.77	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 v4.77	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 v4.77	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Nephrotic syndrome, type 9 Tags
Green Green List (high evidence)	COQ9 Likely inborn error of metabolism - targeted testing not possible v4.77	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)	COQ9 Early onset or syndromic epilepsy v4.133	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)	COX10 Paediatric or syndromic cardiomyopathy v3.43	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources MetBioNet Expert Review Green NHS GMS Expert Review Green Phenotypes Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 Tags
Green Green List (high evidence)	COX10 Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.77	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 Paediatric or syndromic cardiomyopathy v3.43	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources MetBioNet Expert Review Green NHS GMS Expert Review Green Phenotypes Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119 Tags
Green Green List (high evidence)	COX15 Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.133	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 v4.77	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 v4.77	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 v4.77	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 Paediatric or syndromic cardiomyopathy v3.43	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS South West GLH MetBioNet Expert Review Green MetBioNet South West GLH 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 Tags
Green Green List (high evidence)	CPT2 Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.133	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 v4.77	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 v4.77	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 v4.133	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)	CSRP3 Paediatric or syndromic cardiomyopathy v3.43	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS South West GLH Phenotypes Cardiomyopathy, familial hypertrophic, 12 Cardiomyopathy, dilated, 1M Tags
Green Green List (high evidence)	CSTB Early onset or syndromic epilepsy v4.133	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 v4.133	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 v4.77	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 v4.133	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.133	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 v4.77	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 v4.77	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 v4.133	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 v4.133	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 v4.133	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 v4.77	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 v4.133	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 v4.77	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 v4.77	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 Early onset or syndromic epilepsy v4.133	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)	D2HGDH Likely inborn error of metabolism - targeted testing not possible v4.77	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)	DARS Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.133	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 v4.133	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 v4.77	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 v4.133	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 v4.77	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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)	DES Paediatric or syndromic cardiomyopathy v3.43	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS South West GLH Expert Review Green Phenotypes Cardiomyopathy, dilated, 1I, Tags
Green Green List (high evidence)	DGUOK Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.77	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 v4.77	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 v4.133	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 v4.77	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 v4.77	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 v4.133	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 v4.77	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 v4.133	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 v4.133	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 v4.77	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 v4.77	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 v4.133	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)	DMD Paediatric or syndromic cardiomyopathy v3.43	2 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 South West GLH Expert Review Green Phenotypes Duchenne muscular dystrophy, 310200 Dilated Cardiomyopathy, X-Linked Cardiomyopathy, dilated, 3B Becker muscular dystrophy, 300376 Tags Skewed X-inactivation
Green Green List (high evidence)	DMPK_CTG STR Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.133	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 v4.77	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 v4.77	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 Tags
Green Green List (high evidence)	DNAJC19 Paediatric or syndromic cardiomyopathy v3.43	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS South West GLH London South GLH Expert Review Green Phenotypes dilated cardiomyopathy with ataxia syndrome 3-methylglutaconic aciduria, type V, 610198 Disorders of the mitochondrial import system 3-methylglutaconic aciduria, type V Tags
Green Green List (high evidence)	DNAJC19 Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.77	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 v4.133	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 v4.133	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 v4.77	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 v4.77	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 v4.133	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 v4.77	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 Paediatric or syndromic cardiomyopathy v3.43	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS South West GLH Expert Review Green Phenotypes Congenital disorder of glycosylation, type Im Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) Congenital disorder of glycosylation, type Im 610768 syndromic DCM Tags
Green Green List (high evidence)	DOLK Early onset or syndromic epilepsy v4.133	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 Early onset or syndromic epilepsy v4.133	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)	DPAGT1 Likely inborn error of metabolism - targeted testing not possible v4.77	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)	DPH5 Early onset or syndromic epilepsy v4.133	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 Likely inborn error of metabolism - targeted testing not possible v4.77	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)	DPM1 Early onset or syndromic epilepsy v4.133	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)	DPM2 Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.77	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 v4.133	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 v4.77	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 v4.77	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 v4.133	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)	DSC2 Paediatric or syndromic cardiomyopathy v3.43	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS South West GLH Expert Review Green Phenotypes Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair Arrhythmogenic right ventricular dysplasia 11 Tags
Green Green List (high evidence)	DSG2 Paediatric or syndromic cardiomyopathy v3.43	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS South West GLH Expert Review Green Phenotypes Cardiomyopathy, dilated, 1BB, Arrhythmogenic right ventricular dysplasia 10 Tags
Green Green List (high evidence)	DSP Paediatric or syndromic cardiomyopathy v3.43	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS South West GLH Expert Review Green Phenotypes Arrhythmogenic right ventricular dysplasia 8, OMIM:607450 (AD) Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR) Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD) Tags
Green Green List (high evidence)	DTYMK Early onset or syndromic epilepsy v4.133	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 v4.77	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 v4.133	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 v4.133	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 v4.77	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 v4.133	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 v4.77	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 v4.77	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 v4.133	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 v4.133	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 v4.77	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.77	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 v4.133	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)	EMD Paediatric or syndromic cardiomyopathy v3.43	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS South West GLH Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 Tags
Green Green List (high evidence)	EML1 Early onset or syndromic epilepsy v4.133	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 v4.77	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 v4.133	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 v4.77	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 v4.133	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 v4.77	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)	EPG5 Paediatric or syndromic cardiomyopathy v3.43	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS South West GLH 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 v4.133	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.133	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 v4.77	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 v4.133	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 v4.77	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 Early onset or syndromic epilepsy v4.133	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)	EXT2 Likely inborn error of metabolism - targeted testing not possible v4.77	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)	FA2H Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.77	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 v4.133	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 Early onset or syndromic epilepsy v4.133	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)	FARS2 Likely inborn error of metabolism - targeted testing not possible v4.77	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)	FASTKD2 Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.133	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 v4.77	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 Likely inborn error of metabolism - targeted testing not possible v4.77	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)	FBXL4 Early onset or syndromic epilepsy v4.133	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)	FBXO11 Early onset or syndromic epilepsy v4.133	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 v4.133	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 v4.77	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 v4.77	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 v4.77	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 v4.133	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 v4.133	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 v4.77	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 v4.133	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 v4.77	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)	FHL1 Paediatric or syndromic cardiomyopathy v3.43	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS South West GLH Expert Review Green Tags
Green Green List (high evidence)	FHOD3 Paediatric or syndromic cardiomyopathy v3.43	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Hypertrophic cardiomyopathy Tags
Green Green List (high evidence)	FKRP Likely inborn error of metabolism - targeted testing not possible v4.77	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 Early onset or syndromic epilepsy v4.133	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)	FKTN Likely inborn error of metabolism - targeted testing not possible v4.77	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 Paediatric or syndromic cardiomyopathy v3.43	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS South West GLH Expert Review Green Phenotypes Dilated Cardiomyopathy, Recessive Fukuyama Congenital Muscular Dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Cardiomyopathy, dilated, 1X Fukuyama congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588 Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Tags
Green Green List (high evidence)	FLAD1 Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.133	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)	FLNC Paediatric or syndromic cardiomyopathy v3.43	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Phenotypes Cardiomyopathy, familial hypertrophic, 26, OMIM:617047 Cardiomyopathy, familial restrictive 5, OMIM:617047 Hypertrophic cardiomyopathy 26, MONDO:0014883 Myopathy, myofibrillar, 5, OMIM:609524 Myopathy, myofibrillar, 5, MONDO:0012289 Tags
Green Green List (high evidence)	FMO3 Likely inborn error of metabolism - targeted testing not possible v4.77	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 Early onset or syndromic epilepsy v4.133	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)	FOLR1 Likely inborn error of metabolism - targeted testing not possible v4.77	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)	FOXG1 Early onset or syndromic epilepsy v4.133	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 v4.133	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 v4.77	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 v4.133	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 v4.133	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 v4.77	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 Early onset or syndromic epilepsy v4.133	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)	FUCA1 Likely inborn error of metabolism - targeted testing not possible v4.77	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Fucosidosis, 230000 Tags
Green Green List (high evidence)	FUT8 Early onset or syndromic epilepsy v4.133	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)	FUT8 Likely inborn error of metabolism - targeted testing not possible v4.77	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)	FXN Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.77	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 v4.77	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycogen Storage Disease Type I Glycogen Storage Disorders- Liver Glycogen Storage Disease Glycogen Storage Disease Ia Glycogen storage disease Ia, 232200 Glycogen storage disease type 1a, von Gierke (Glycogen storage disorders) Glycogen storage disease Ia fasting intolerance with enlarged liver, renal tubular disease Tags new-gene-name
Green Green List (high evidence)	G6PC3 Likely inborn error of metabolism - targeted testing not possible v4.77	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 Paediatric or syndromic cardiomyopathy v3.43	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS South West GLH London South GLH MetBioNet Expert Review Green MetBioNet London South GLH South West GLH Expert Review Green Phenotypes Hypotonia, muscle weakness, progressive respiratory failure syndromic HCM HCM, mixed Glycogen storage disease II, 232300 Glycogen storage disease type II (Pompe disease) Tags
Green Green List (high evidence)	GAA Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 Likely inborn error of metabolism - targeted testing not possible v4.77	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)	GABRG2 Early onset or syndromic epilepsy v4.133	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)	GAD1 Early onset or syndromic epilepsy v4.133	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 v4.77	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 v4.133	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.133	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 v4.77	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 v4.77	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 v4.77	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 Likely inborn error of metabolism - targeted testing not possible v4.77	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)	GAMT Early onset or syndromic epilepsy v4.133	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)	GARS Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.77	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 Likely inborn error of metabolism - targeted testing not possible v4.77	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)	GBA Early onset or syndromic epilepsy v4.133	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)	GBE1 Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.77	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 v4.77	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 v4.77	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 Likely inborn error of metabolism - targeted testing not possible v4.77	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)	GCSH Early onset or syndromic epilepsy v4.133	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)	GDAP1 Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.133	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 Early onset or syndromic epilepsy v4.133	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)	GLB1 Likely inborn error of metabolism - targeted testing not possible v4.77	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)	GLDC Likely inborn error of metabolism - targeted testing not possible v4.77	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)	GLDC Early onset or syndromic epilepsy v4.133	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)	GLRA1 Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.133	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 v4.77	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 v4.77	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 v4.133	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 v4.77	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 Likely inborn error of metabolism - targeted testing not possible v4.77	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)	GLUL Early onset or syndromic epilepsy v4.133	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)	GLYCTK Likely inborn error of metabolism - targeted testing not possible v4.77	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 Likely inborn error of metabolism - targeted testing not possible v4.77	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)	GM2A Early onset or syndromic epilepsy v4.133	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)	GMPPA Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.77	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.133	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 v4.133	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 v4.133	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 v4.77	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 v4.133	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 v4.77	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 v4.77	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.77	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 v4.133	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 v4.77	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 Paediatric or syndromic cardiomyopathy v3.43	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS South West GLH MetBioNet Expert Review Green MetBioNet South West GLH Expert Review Green Phenotypes MPS VII, Sly disease (MPS IV, Morquio disease) Mucopolysaccharidosis VII, 253220 MUCOPOLYSACCHARIDOSIS TYPE 7 syndromic HCM Mucopolysaccharidosis Type VII Mucopolysaccharidosis, Type VII Tags
Green Green List (high evidence)	GUSB Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.133	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 v4.133	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 v4.77	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 v4.133	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 v4.77	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 Paediatric or syndromic cardiomyopathy v3.43	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS MetBioNet Expert Review Green MetBioNet Expert Review Green Phenotypes Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) Trifunctional protein deficiency 609015 Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation) Liver disease, hypotonia, hypoketotic hypoglycaemia, neuropathy, lactic acidosis, retinopathy, hypoparathyroidism Mitochondrial Trifunctional Protein deficiency HCM Tags
Green Green List (high evidence)	HADHA Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.77	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 Paediatric or syndromic cardiomyopathy v3.43	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH MetBioNet Expert Review Green MetBioNet London South GLH Expert Review Green Phenotypes Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) Trifunctional protein deficiency 609015 Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation) Liver disease, hypotonia, hypoketotic hypoglycaemia, neuropathy, lactic acidosis, retinopathy, hypoparathyroidism Mitochondrial Trifunctional Protein deficiency HCM Tags
Green Green List (high evidence)	HAMP Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.77	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 v4.133	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 v4.77	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 v4.77	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.77	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 v4.133	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 Early onset or syndromic epilepsy v4.133	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)	HEXB Likely inborn error of metabolism - targeted testing not possible v4.77	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)	HFE Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.133	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 v4.77	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 v4.77	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 Early onset or syndromic epilepsy v4.133	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)	HMGCL Likely inborn error of metabolism - targeted testing not possible v4.77	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)	HMGCS2 Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.133	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 v4.133	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 v4.133	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 v4.77	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 v4.77	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 v4.133	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 v4.77	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 v4.77	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 v4.133	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)	HRAS Paediatric or syndromic cardiomyopathy v3.43	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert List South West GLH London South GLH Expert Review Green Phenotypes Costello syndrome syndromic HCM Tags
Green Green List (high evidence)	HS2ST1 Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.77	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes HSD10 mitochondrial disease 300438 Tags
Green Green List (high evidence)	HSD17B4 Early onset or syndromic epilepsy v4.133	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)	HSD17B4 Likely inborn error of metabolism - targeted testing not possible v4.77	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)	HSD3B7 Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.77	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 v4.77	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 v4.133	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 v4.77	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 v4.77	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 v4.77	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 Paediatric or syndromic cardiomyopathy v3.43	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS South West GLH Expert Review Green Phenotypes Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias) D-2-hydroxyglutaric aciduria 2 D-2-hydroxyglutaric aciduria 2, 613657 Tags
Green Green List (high evidence)	IDH2 Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.77	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 v4.77	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)	IDUA Paediatric or syndromic cardiomyopathy v3.43	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS MetBioNet Expert Review Green MetBioNet Expert Review Green Phenotypes MPS I, Hurler, Scheie disease (Mucopolysaccharidoses) Mucopolysaccharidosis type 1H/S Mucopolysaccharidosis type 1S Mucopolysaccharidosis Is, 607016 Hurler syndrome Mucopolysaccharidosis Ih/s, 607015 Scheie syndrome Mucopolysaccharidosis, Type I Hurler-Scheie syndrome Mucopolysaccharidosis Ih, 607014 Mucopolysaccharidosis type 1H Tags
Green Green List (high evidence)	IER3IP1 Early onset or syndromic epilepsy v4.133	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)	IER3IP1 Likely inborn error of metabolism - targeted testing not possible v4.77	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)	IFIH1 Early onset or syndromic epilepsy v4.133	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 v4.133	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, 308300 Tags
Green Green List (high evidence)	IQSEC2 Early onset or syndromic epilepsy v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.77	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.133	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 v4.77	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 v4.77	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)	JPH2 Paediatric or syndromic cardiomyopathy v3.43	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Tags
Green Green List (high evidence)	JUP Paediatric or syndromic cardiomyopathy v3.43	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS South West GLH Expert Review Green Phenotypes Naxos disease, OMIM:601214 Arrhythmogenic right ventricular dysplasia 12, OMIM:611528 Tags
Green Green List (high evidence)	KARS Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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)	KCNE1 Long QT syndrome v3.7	10 reviews 6 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Expert list UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Jervell and Lange-Nielsen syndrome 2, OMIM:612347 Long QT syndrome 5, OMIM:613695 Tags
Green Green List (high evidence)	KCNH1 Early onset or syndromic epilepsy v4.133	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)	KCNH2 Long QT syndrome v3.7	8 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Eligibility statement prior genetic testing Emory Genetics Laboratory Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Short QT syndrome 1 (609620) Long QT syndrome-2 Long QT syndrome-2 (613688) Tags
Green Green List (high evidence)	KCNJ10 Early onset or syndromic epilepsy v4.133	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 v4.133	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)	KCNJ2 Long QT syndrome v3.7	8 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH North West GLH Expert Review Green UKGTN Emory Genetics Laboratory Expert list Phenotypes Short QT syndrome 3, OMIM:609622 Short QT syndrome type 3, MONDO:0012314 Atrial fibrillation, familial, 9, OMIM:613980 Atrial fibrillation, familial, 9, MONDO:0013513 Andersen syndrome, OMIM:170390 Andersen-Tawil syndrome, MONDO:0008222 Tags
Green Green List (high evidence)	KCNK4 Early onset or syndromic epilepsy v4.133	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 v4.133	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)	KCNQ1 Long QT syndrome v3.7	8 reviews 6 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Eligibility statement prior genetic testing Expert list Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Jervell and Lange-Nielsen syndrome (220400) Atrial fibrillation, familial, 3 (607554) Long QT syndrome-1 (192500) Long QT syndrome-1 Short QT syndrome 2 (609621) Tags
Green Green List (high evidence)	KCNQ2 Early onset or syndromic epilepsy v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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)	KRAS Paediatric or syndromic cardiomyopathy v3.43	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert List South West GLH London South GLH Expert Review Green Phenotypes Noonan syndrome 3 Noonan syndrome CFC syndrome Cardiofaciocutaneous syndrome 2 615278 Noonan syndrome 3 609942 Cardiofaciocutaneous syndrome 2 Cardiofaciocutaneous Syndrome Cardio-Facio-Cutaneous syndrome Tags
Green Green List (high evidence)	KYNU Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.77	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 v4.77	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)	LAMP2 Paediatric or syndromic cardiomyopathy v3.43	2 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 South West GLH London South GLH Expert Review Green Phenotypes syndromic HCM Danon disease Tags
Green Green List (high evidence)	LARGE1 Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.133	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.133	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 v4.77	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 v4.133	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.133	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)	LMNA Paediatric or syndromic cardiomyopathy v3.43	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS South West GLH London South GLH Expert Review Green Phenotypes Emery-Dreifuss muscular dystrophy 2, AD, 181350 Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Congenital Muscular Dystrophy, LMNA-related (Dominant) Cardiomyopathy, dilated, 1A Tags
Green Green List (high evidence)	LMOD2 Paediatric or syndromic cardiomyopathy v3.43	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes dilated cardiomyopathy, MONDO:0005021 Tags
Green Green List (high evidence)	LONP1 Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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)	LZTR1 Paediatric or syndromic cardiomyopathy v3.43	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert List Expert Review Green Phenotypes Schwannomatosis-2, susceptibility to 615670 Noonan syndrome 10 616564 Tags
Green Green List (high evidence)	MACF1 Early onset or syndromic epilepsy v4.133	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 v4.133	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia, 619005 DEEAH syndrome, 619004 Tags
Green Green List (high evidence)	MAF Early onset or syndromic epilepsy v4.133	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.133	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)	MAP2K1 Paediatric or syndromic cardiomyopathy v3.43	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert List South West GLH London South GLH Expert Review Green Phenotypes CFC syndrome ?Noonan syndrome syndromic HCM LEOPARD syndrome Cardiofaciocutaneous syndrome 3 Cardiofaciocutaneous Syndrome Cardio-Facio-Cutaneous syndrome Tags
Green Green List (high evidence)	MAP2K2 Early onset or syndromic epilepsy v4.133	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)	MAP2K2 Paediatric or syndromic cardiomyopathy v3.43	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert List South West GLH London South GLH Expert Review Green Phenotypes Cardio-Facio-Cutaneous syndrome type 4 CFC syndrome Cardiofaciocutaneous syndrome 4 615280 Cardiofaciocutaneous syndrome 4 syndromic HCM Cardiofaciocutaneous Syndrome Cardio-Facio-Cutaneous syndrome Tags
Green Green List (high evidence)	MARS2 Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.77	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 v4.133	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 v4.133	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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 Early onset or syndromic epilepsy v4.133	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)	MDH2 Likely inborn error of metabolism - targeted testing not possible v4.77	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)	MECP2 Early onset or syndromic epilepsy v4.133	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 v4.77	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.133	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 v4.77	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 v4.77	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 v4.77	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 v4.133	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 v4.77	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 v4.77	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 v4.77	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 v4.133	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 v4.77	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 v4.133	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 v4.77	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)	MLYCD Paediatric or syndromic cardiomyopathy v3.43	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS MetBioNet Expert Review Green MetBioNet Expert Review Green Phenotypes 3.5.1. Malonyl CoA decarboxylase deficiency Other disorders of fatty acid and ketone body metabolism) malonic aciduria Hypertrophic-hypocontractile cardiomyopathy Malonyl-CoA decarboxylase deficiency Mild clinical features. Developmental delay, epilepsy Malonic aciduria Malonyl-CoA decarboxylase deficiency (Organic acidurias) HCM Tags
Green Green List (high evidence)	MMAA Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.77	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 Early onset or syndromic epilepsy v4.133	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)	MMACHC Likely inborn error of metabolism - targeted testing not possible v4.77	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)	MMADHC Early onset or syndromic epilepsy v4.133	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)	MMADHC Likely inborn error of metabolism - targeted testing not possible v4.77	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)	MOCS1 Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.133	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 Likely inborn error of metabolism - targeted testing not possible v4.77	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)	MOCS2 Early onset or syndromic epilepsy v4.133	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)	MOGS Likely inborn error of metabolism - targeted testing not possible v4.77	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)	MOGS Early onset or syndromic epilepsy v4.133	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)	MPC1 Likely inborn error of metabolism - targeted testing not possible v4.77	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 Likely inborn error of metabolism - targeted testing not possible v4.77	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)	MPDU1 Early onset or syndromic epilepsy v4.133	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)	MPI Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.77	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)	MRAS Paediatric or syndromic cardiomyopathy v3.43	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Noonan syndrome 11, OMIM:618499 Noonan syndrome 11, MONDO:0032786 Tags
Green Green List (high evidence)	MRPL3 Likely inborn error of metabolism - targeted testing not possible v4.77	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 v4.77	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)	MRPL44 Paediatric or syndromic cardiomyopathy v3.43	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Review Green London South GLH 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 v4.77	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 v4.77	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 v4.77	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 v4.77	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 v4.77	1 review

Unexplained death in infancy and sudden unexplained death in childhood (Version 6.299)

2004 Entities

1865 reviewed, 1433 green

4 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

5 reviews

Sources

Phenotypes

Tags

6 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

5 reviews

Sources

Phenotypes

Tags

4 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

4 reviews

Sources

Phenotypes

Tags

3 reviews