Paediatric or syndromic cardiomyopathy (Version 3.47)

The latest signed off version for the GMS is v3.0. The current version, shown here, may differ from the signed-off version.

Description

This panel will be routinely applied for clinical indication “R135 Paediatric or syndromic cardiomyopathy” and can also be used as part of the analysis of a broader phenotype, where relevant, using genome or exome data in the NHS Genomic Medicine Service.

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 'R135 Paediatric or syndromic cardiomyopathy'.

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

Panel Activity

26 reviewers

Ellen McDonagh (Genomics England Curator)

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

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

Group: GeCIP domain
Workplace: NHS diagnostic lab
Andrea Haworth (ACGS, Congenica)

Group: Other biotech or pharmaceutical
Workplace: Other clinical service
Helen Savage (Congenica Ltd)

Group: Other biotech or pharmaceutical
Workplace: Other clinical service
Ellen Thomas (Genomics England Curator)

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

Group: GeCIP domain
Workplace: NHS clinical service
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Rebecca Foulger (Genomics England curator)

Group: Other
Workplace: Other
Alice Gardham (Genomics England)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Konstantinos Varvagiannis (Other)

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

Group: Other
Workplace: Other clinical service
Detlef Bockenhauer (GOSH-UCL)

Group: GeCIP domain
Workplace: NHS clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
James Eden (Manchester)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Rebecca Whittington (South West GLH)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Dmitrijs Rots (Children's Clinical University Hospital)

Group: Other
Workplace: Research lab
Hannah Robinson (South West Genomic Laboratory Hub)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Julia Baptista (Faculty of Health, University of Plymouth)

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

Group: Other
Workplace: Other
Ludmila Volozonoka (Children's Clinical University Hospital)

Group: Other
Workplace: Other diagnostic lab
Jesse Hayesmoore (Oxford Regional Genetics Laboratory)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab

226 Entities

226 reviewed, 112 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 226 Entitiess
Green Green List (high evidence)	AARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS 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)	ABCC9	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS South West GLH Phenotypes Dilated Cardiomyopathy, Dominant Cardiomyopathy, dilated, 1O Tags
Green Green List (high evidence)	ACAD9	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 20, 611126 Tags
Green Green List (high evidence)	ACADVL	4 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS 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)	ACTA1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS South West GLH 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	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Hypertrophic Cardiomyopathy Cardiomyopathy, familial hypertrophic, 11 Cardiomyopathy, dilated, 1R Left Ventricular Noncompaction Cardiomyopathy Left ventricular noncompaction 4 Tags
Green Green List (high evidence)	ACTN2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Dilated Cardiomyopathy, Dominant Tags
Green Green List (high evidence)	AGK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Sengers syndrome, 212350 Tags
Green Green List (high evidence)	ALMS1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green NHS GMS Phenotypes OMIM 203800 Tags
Green Green List (high evidence)	ALPK3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cardiomyopathy, familial hypertrophic 27, 618052 Tags
Green Green List (high evidence)	BAG3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Cardiomyopathy, dilated, 1HH Tags
Green Green List (high evidence)	CACNA1C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS 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)	CDH2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Tags
Green Green List (high evidence)	COA5	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH 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	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 13, OMIM:616501 Tags
Green Green List (high evidence)	COX10	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 Tags
Green Green List (high evidence)	COX15	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119 Tags
Green Green List (high evidence)	CPT2	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS South West GLH 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)	CSRP3	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)	DES	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes Cardiomyopathy, dilated, 1I, Tags
Green Green List (high evidence)	DMD	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 Expert Review Green NHS GMS South West GLH 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)	DNAJC19	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS South West GLH 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)	DOLK	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH 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)	DSC2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH 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	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS South West GLH Phenotypes Cardiomyopathy, dilated, 1BB, Arrhythmogenic right ventricular dysplasia 10 Tags
Green Green List (high evidence)	DSP	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH 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)	EMD	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)	EPG5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes Vici syndrome, 242840 IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM Tags
Green Green List (high evidence)	FHL1	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS South West GLH Tags
Green Green List (high evidence)	FHOD3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Hypertrophic cardiomyopathy Tags
Green Green List (high evidence)	FKTN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH 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)	FLNC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS 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)	GAA	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH MetBioNet NHS GMS South West GLH 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)	GUSB	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS South West GLH 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)	HADHA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS 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)	HADHB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH MetBioNet NHS GMS 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)	HRAS	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Costello syndrome syndromic HCM Tags
Green Green List (high evidence)	IDH2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS South West GLH Phenotypes Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias) D-2-hydroxyglutaric aciduria 2 D-2-hydroxyglutaric aciduria 2, 613657 Tags
Green Green List (high evidence)	IDUA	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS 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)	JPH2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Tags
Green Green List (high evidence)	JUP	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes Naxos disease, OMIM:601214 Arrhythmogenic right ventricular dysplasia 12, OMIM:611528 Tags
Green Green List (high evidence)	KRAS	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green London South GLH NHS GMS South West GLH 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)	LAMP2	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 Expert Review Green London South GLH NHS GMS South West GLH Phenotypes syndromic HCM Danon disease Tags
Green Green List (high evidence)	LMNA	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS South West GLH 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	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes dilated cardiomyopathy, MONDO:0005021 Tags
Green Green List (high evidence)	LZTR1	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert List Expert Review Green NHS GMS Phenotypes Schwannomatosis-2, susceptibility to 615670 Noonan syndrome 10 616564 Tags
Green Green List (high evidence)	MAP2K1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green London South GLH NHS GMS South West GLH 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	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green London South GLH NHS GMS South West GLH 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)	MLYCD	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS 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)	MRAS	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Noonan syndrome 11, OMIM:618499 Noonan syndrome 11, MONDO:0032786 Tags
Green Green List (high evidence)	MRPL44	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS Phenotypes ?Combined oxidative phosphorylation deficiency 16, 615395 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Green Green List (high evidence)	MUT	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS South West GLH Phenotypes DCM Methylmalonic aciduria, mut(0) type 251000 Hypertrophic-hypocontractile cardiomyopathy Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap Methylmalonic aciduria Methylmalonyl-CoA mutase deficiency (Organic acidurias) metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections. Tags new-gene-name
Green Green List (high evidence)	MYBPC3	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Cardiomyopathy, familial hypertrophic, 4, Cardiomyopathy, dilated, 1MM Hypertrophic cardiomyopathy Left ventricular noncompaction 10, Tags
Green Green List (high evidence)	MYH6	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Atrial septal defect 3, OMIM:614089 Cardiomyopathy, dilated, 1EE OMIM:613252 Cardiomyopathy, hypertrophic, 14, OMIM:613251 {Sick sinus syndrome 3}, OMIM:614090 Tags
Green Green List (high evidence)	MYH7	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Cardiomyopathy, hypertrophic, 1, OMIM:192600 Hypertrophic cardiomyopathy 1, MONDO:0008647 Cardiomyopathy, dilated, 1S, OMIM:613426 Dilated cardiomyopathy 1S, MONDO:0013262 Left ventricular noncompaction 5, OMIM:613426 Tags
Green Green List (high evidence)	MYL2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Cardiomyopathy, familial hypertrophic, 10 Tags
Green Green List (high evidence)	MYL3	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Cardiomyopathy, familial hypertrophic, 8, Tags
Green Green List (high evidence)	MYLK3	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dilated cardiomyopathy, MONDO:0005021 Tags gene-checked
Green Green List (high evidence)	MYPN	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes Cardiomypathy, familial hypertrophic, 22, Cardiomyopathy, dilated, 1KK Tags
Green Green List (high evidence)	NDUFA11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 14, 618236 Tags
Green Green List (high evidence)	NDUFA2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 13, 618235 Tags
Green Green List (high evidence)	NDUFAF1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 11, 618234 Tags
Green Green List (high evidence)	NDUFB11	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green MetBioNet NHS GMS Phenotypes ?Mitochondrial complex I deficiency, nuclear type 30, 301021 Linear skin defects with multiple congenital anomalies 3, 300952 Tags
Green Green List (high evidence)	NDUFS2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 6, 618228 Tags
Green Green List (high evidence)	NDUFS8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 2, 618222 Tags
Green Green List (high evidence)	NDUFV2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 7, 618229 Tags
Green Green List (high evidence)	NEXN	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Cardiomyopathy, dilated, 1CC, OMIM:613122 Cardiomyopathy, hypertrophic, 20, OMIM:613876 Tags
Green Green List (high evidence)	NKX2-5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH NHS GMS Phenotypes Atrialseptaldefect7,withorwithoutAVconductiondefects,108900 Tags
Green Green List (high evidence)	NONO	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 NHS GMS Tags
Green Green List (high evidence)	NRAP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dilated cardiomyopathy, MONDO:0005021 Edit Tags gene-checked
Green Green List (high evidence)	NRAS	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green London South GLH NHS GMS South West GLH Phenotypes CFC Syndrome Noonan syndrome Noonan syndrome 6 Noonan syndrome 6 613224 syndromic HCM Cardio-Facio-cutanenous syndrome Tags
Green Green List (high evidence)	PCCA	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS South West GLH Phenotypes DCM Hypertrophic-hypocontractile cardiomyopathy Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap Propionicacidemia Propionic aciduria Propionicacidemia 606054 Propionic acidemia Propionic aciduria (Organic acidurias) metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections Tags
Green Green List (high evidence)	PCCB	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS South West GLH Phenotypes as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections) DCM Hypertrophic-hypocontractile cardiomyopathy Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap Propionicacidemia Propionic aciduria Propionicacidemia 606054 Propionic acidemia Propionic aciduria (Organic acidurias) Tags
Green Green List (high evidence)	PKP2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS South West GLH Phenotypes Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular dysplasia 9 Tags
Green Green List (high evidence)	PLD1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cardiac valvular defect, developmental, OMIM:212093 neonatal cardiomyopathy Tags Q2_24_demote_red Q2_24_expert_review Q2_24_NHS_review
Green Green List (high evidence)	PLN	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS South West GLH Phenotypes Cardiomyopathy, dilated, 1P Cardiomyopathy, familial hypertrophic, 18, Tags
Green Green List (high evidence)	PPA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS Phenotypes Sudden cardiac failure, alcohol-induced, 617223 Sudden cardiac failure, infantile, 617222 Tags
Green Green List (high evidence)	PPCS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cardiomyopathy, dilated, 2C, 618189 Tags
Green Green List (high evidence)	PPP1CB	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert List Expert Review Green London South GLH NHS GMS Phenotypes Rasopathy with developmental delay, short stature and sparse slow-growing hair Noonan syndrome-like disorder with loose anagen hair 2, 617506 Tags
Green Green List (high evidence)	PPP1R13L	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:620519 Tags
Green Green List (high evidence)	PRKAG2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLHSouth West GLH NHS GMS Phenotypes Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome Cardiomyopathy, familial hypertrophic 6, syndromic HCM Tags
Green Green List (high evidence)	PTPN11	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Noonan syndrome 1 LEOPARD syndrome 1 151100 LEOPARD syndrome 1 Noonan syndrome 1 163950 Noonan syndrome syndromic HCM LEOPARD syndrome Tags
Green Green List (high evidence)	RAF1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Noonan syndrome 5 Noonan syndrome Noonan syndrome 5 611553 LEOPARD syndrome 2 611554 syndromic HCM LEOPARD syndrome LEOPARD syndrome 2 Tags
Green Green List (high evidence)	RBM20	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Cardiomyopathy, dilated, 1DD Tags
Green Green List (high evidence)	RIT1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Noonan syndrome 8 Noonan syndrome type 8 Noonan syndrome 8 615355 Tags
Green Green List (high evidence)	RRAGC	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Long-Olsen syndrome, OMIM:620609 Tags
Green Green List (high evidence)	RRAGD	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes hypomagnesaemia cardiomyopathy tubular renal disease-cardiomyopathy syndrome, MONDO:0019130 Tags
Green Green List (high evidence)	RYR2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS South West GLH Phenotypes Arrhythmogenic right ventricular dysplasia 2, 600996 Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy Tags
Green Green List (high evidence)	SCN5A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS South West GLH Phenotypes Dilated cardiomyopathy Long QT syndrome Brugada syndrome Cardiomyopathy, dilated, 1E Arrhythmogenic right ventricular cardiomyopathy Tags
Green Green List (high evidence)	SCO1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048 Tags
Green Green List (high evidence)	SCO2	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes Isolated complex IV deficiency Mitochondrial Diseases 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 1, 604377 Myopia 6, 608908 Mitochondrial Respiratory Chain Complex IV Deficiency Tags
Green Green List (high evidence)	SHOC2	5 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Noonan-like syndrome with loose anagen hair syndromic HCM Tags
Green Green List (high evidence)	SLC22A5	5 reviews 4 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS South West GLH Phenotypes Carnitine deficiency, systemic primary, OMIM:212140 systemic primary carnitine deficiency disease, MONDO:0008919 Tags Q4_23_MOI
Green Green List (high evidence)	SLC25A20	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS South West GLH Phenotypes Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia Carnitine-acylcarnitine translocase deficiency 212138 Carnitine acylcarnitines translocase deficiency CAT HCM, DCM Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle) Tags
Green Green List (high evidence)	SLC25A4	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418 Disorders of mitochondrial protein transport Hypertrophic cardiomyopathy Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283 Disorders of mitochondrial DNA maintenance and integrity Tags
Green Green List (high evidence)	SOS1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Noonan syndrome 4 610733 syndromic HCM Noonan syndrome Noonan syndrome 4 Tags
Green Green List (high evidence)	SOS2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert List Expert Review Green London South GLH NHS GMS Phenotypes Noonan syndrome 9 616559 Noonan syndrome 9 Tags
Green Green List (high evidence)	SPEG	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dilated cardiomyopathy, MONDO:0005021 Centronuclear myopathy 5, OMIM:615959 Tags
Green Green List (high evidence)	SPRED2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes developmental delay intellectual disability cardiac defects short stature skeletal anomalies a typical facial gestalt Tags
Green Green List (high evidence)	TAZ	4 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London South GLH MetBioNet NHS GMS South West GLH Phenotypes Disorders of mitochondrial lipid metabolism Dilated Cardiomyopathy, X-Linked Neutropenia, muscle weakness, growth retardation Non-compaction cardiomyopathy Barth syndrome, 302060 Left Ventricular Noncompaction Cardiomyopathy HCM, mixed Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Barth syndrome Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias) Tags new-gene-name
Green Green List (high evidence)	TBX20	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Other Phenotypes Atrial septal defect 4, OMIM:611363 Cardiomyopathy, dilated with or without LVNC Atrial septal defect, congential heart disease Tags
Green Green List (high evidence)	TMEM43	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS South West GLH Phenotypes Arrhythmogenic right ventricular dysplasia 5 Emery-Dreifuss muscular dystrophy 7, AD 614302 Tags
Green Green List (high evidence)	TMEM70	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 Tags
Green Green List (high evidence)	TNNC1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Cardiomyopathy, dilated, 1Z Cardiomyopathy, familial hypertrophic, 13, Tags
Green Green List (high evidence)	TNNI3	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Hypertrophic cardiomyopathy Cardiomyopathy, familial hypertrophic, 7 Cardiomyopathy, dilated, 1FF Cardiomyopathy, dilated, 2A, Tags
Green Green List (high evidence)	TNNI3K	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Cardiac conduction disease with or without dilated cardiomyopathy 616117 Tags
Green Green List (high evidence)	TNNT2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Cardiomyopathy, dilated, 1D Cardiomyopathy, familial hypertrophic, 2 Hypertrophic cardiomyopathy Left ventricular noncompaction 6, Tags
Green Green List (high evidence)	TPM1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Cardiomyopathy, familial hypertrophic, 3 Cardiomyopathy, dilated, 1Y Left ventricular noncompaction 9, Tags
Green Green List (high evidence)	TSFM	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes Combined oxidative phosphorylation deficiency 3, 610505 Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Combined oxidative phosphorylation deficiency 3 610505 Tags
Green Green List (high evidence)	TTN	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS South West GLH Phenotypes Cardiomyopathy, familial hypertrophic, 9, Cardiomyopathy, dilated, 1G Tags
Green Green List (high evidence)	TTR	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS South West GLH Phenotypes syndromic HCM Tags
Green Green List (high evidence)	VCL	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS South West GLH Phenotypes Cardiomyopathy, familial hypertrophic, 15, Cardiomyopathy, dilated, 1W Tags
Amber Amber List (moderate evidence)	AGL	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Hypertrophic-hypocontractile cardiomyopathy Glycogen storage disease type IIIa (debrancher enzyme deficiency) syndromic HCM Glycogen storage disease IIIb, 232400 myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance Ketotic hypoglycaemia, hyperlipidaemia, raised transaminases Glycogen Storage Disease Glycogen Storage Disease Type III Glycogen storage disease IIIa, 232400 Glycogen Storage Disorders- Liver Glycogen Storage Disorders- Muscle Glycogen storage disease type III, Cori (Glycogen storage disorders) HCM Tags
Amber Amber List (moderate evidence)	ANK2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Tags
Amber Amber List (moderate evidence)	ARSB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 MUCOPOLYSACCHARIDOSIS TYPE 6 Mucopolysaccharidosis, Type VI MPS VI, Maroteaux - Lamy disease (MPS IV, Morquio disease) Mucopolysaccharidosis Type VI Tags
Amber Amber List (moderate evidence)	ATP5D	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex V (ATP synthase) deficiency, 618120 Tags new-gene-name
Amber Amber List (moderate evidence)	ATPAF2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 Tags
Amber Amber List (moderate evidence)	BRAF	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Amber London South GLH NHS GMS South West GLH Phenotypes Noonan syndrome 7 613706 Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 115150 Noonan Syndrome syndromic HCM Cardiofaciocutaneous Syndrome LEOPARD Syndrome LEOPARD syndrome 3 LEOPARD syndrome 3 613707 Tags
Amber Amber List (moderate evidence)	CAP2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cardiomyopathy, dilated, 2I, OMIM:620462 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	CASZ1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes dilated cardiomyopathy, MONDO:0005021 left ventricular noncompaction, MONDO:0018901 Tags Q2_24_promote_green
Amber Amber List (moderate evidence)	CBL	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Amber London South GLH NHS GMS South West GLH Phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563 Tags
Amber Amber List (moderate evidence)	COX14	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes ?Mitochondrial complex IV deficiency, OMIM:220110 Tags
Amber Amber List (moderate evidence)	COX20	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex IV deficiency, 220110 Tags
Amber Amber List (moderate evidence)	COX6B1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051 Tags
Amber Amber List (moderate evidence)	COX7B	3 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Linear skin defects with multiple congenital anomalies 2, 300887 Tags
Amber Amber List (moderate evidence)	CRLS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Combined oxidative phosphorylation deficiency 57, OMIM:620167 Tags
Amber Amber List (moderate evidence)	CRYAB	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS South West GLH Phenotypes Cardiomyopathy, dilated, 1II, OMIM:615184 Myopathy, myofibrillar, 2, OMIM:608810 Tags
Amber Amber List (moderate evidence)	ELAC2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Combined oxidative phosphorylation deficiency 17, OMIM:615440 Tags Q3_23_NHS_review Q3_23_promote_green
Amber Amber List (moderate evidence)	EYA4	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber London South GLH NHS GMS South West GLH Phenotypes Cardiomyopathy, dilated, 1J Tags
Amber Amber List (moderate evidence)	FAH	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Liver failure, vomiting, renal tubulopathy Tyrosinemia, type I Tyrosinaemia type 1 (fumarylactoacetase deficiency) HCM Tags
Amber Amber List (moderate evidence)	FASTKD2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 44, OMIM:618855 Tags
Amber Amber List (moderate evidence)	FKRP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Tags
Amber Amber List (moderate evidence)	FLII	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Dilated cardiomyopathy, MONDO:0005021 Tags
Amber Amber List (moderate evidence)	FNIP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hypertrophic Cardiomyopathy Primary Immunodeficiency Agammaglobulinemia Neutropenia Tags
Amber Amber List (moderate evidence)	FOXRED1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 19, 618241 Tags
Amber Amber List (moderate evidence)	GATA6	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Tags
Amber Amber List (moderate evidence)	GLA	3 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber London South GLH MetBioNet NHS GMS South West GLH Phenotypes Fabry disease, 301500 HCM is a late complication in adults, also found in female carriers Limb pain, angiokeratom syndromic HCM Fabry disease, cardiac variant, 301500 Fabry disease (Sphingolipidoses) Fabry Disease Fabry disease HCM Tags
Amber Amber List (moderate evidence)	GLB1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS South West GLH Phenotypes GM1-gangliosidosis, type I, 230500 Mucopolysaccharidosis type IVB (Morquio), 253010 GM1-gangliosidosis (Sphingolipidoses) syndromic HCM Mucopolysaccharidosis Type IVB GM1-gangliosidosis, type II, 230600 MUCOPOLYSACCHARIDOSIS TYPE 4B MPS IVB, Morquio B disease (MPS IV, Morquio disease) GM1-gangliosidosis, type III, 230650 Mucopolysaccharidosis, Type IV Tags
Amber Amber List (moderate evidence)	GSN	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Amyloidosis, Finnish type, OMIM:105120 cranial neuropathy peripheral neuropathy cutis laxa cardiomyopathy, MONDO:0004994 arrhythmia Tags
Amber Amber List (moderate evidence)	HCN4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Tags
Amber Amber List (moderate evidence)	HFE	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Hemochromatosis, OMIM:235200 Iron overload, liver disease, diabetes, hypogonadism Hypertrophic-hypocontractile cardiomyopathy Tags
Amber Amber List (moderate evidence)	HGSNAT	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mucopolysaccharidosis Type IIIC MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses) Retinitis Pigmentosa 73 Mucopolysaccharidosis, Type III Mucopolysaccharidosis Type III Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 Tags
Amber Amber List (moderate evidence)	IDS	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes MPS II, Hunter disease (Mucopolysaccharidoses) MUCOPOLYSACCHARIDOSIS TYPE 2 Mucopolysaccharidosis II, 309900 Mucopolysaccharidosis Type II Tags
Amber Amber List (moderate evidence)	LDB3	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS South West GLH Phenotypes Cardiomyopathy, dilated, 1C, with or without LVNC, OMIM:601493 dilated cardiomyopathy, MONDO:0005021 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	LETM1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 Tags Q3_23_MOI Q3_23_promote_green
Amber Amber List (moderate evidence)	LRPPRC	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Leigh syndrome, French-Canadian type, 220111 Tags
Amber Amber List (moderate evidence)	MIB1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber London South GLH NHS GMS South West GLH Phenotypes Left ventricular noncompaction 7, OMIM:615092 Tags
Amber Amber List (moderate evidence)	MMACHC	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS South West GLH Phenotypes Methylmalonic aciduria and homocystinuria, cblC type, 277400 DCM Methylmalonic aciduria Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap Hypertrophic-hypocontractile cardiomyopathy Tags
Amber Amber List (moderate evidence)	MT-TI	1 review	MITOCHONDRIAL	Sources Expert Review Amber NHS GMS Tags
Amber Amber List (moderate evidence)	NAA10	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Ogden syndrome, OMIM:300855 Tags
Amber Amber List (moderate evidence)	NAA15	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes hypertrophic cardiomyopathy, MONDO:0005045 Tags
Amber Amber List (moderate evidence)	NAGLU	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 Mucopolysaccharidosis Type IIIB MUCOPOLYSACCHARIDOSIS TYPE 3B Mucopolysaccharidosis, Type III Mucopolysaccharidosis Type III MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses) Tags
Amber Amber List (moderate evidence)	NDUFA1	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 12, 301020 Tags
Amber Amber List (moderate evidence)	NDUFA10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 22, 618243 Tags
Amber Amber List (moderate evidence)	NDUFA4	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes No OMIM phenotype Tags
Amber Amber List (moderate evidence)	NDUFAF2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 10, 618233 Tags
Amber Amber List (moderate evidence)	NDUFAF3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 18, 618240 Tags
Amber Amber List (moderate evidence)	NDUFAF4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 15, 618237 Tags
Amber Amber List (moderate evidence)	NDUFAF5	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 16, 616238 Tags
Amber Amber List (moderate evidence)	NDUFB3	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246 Tags
Amber Amber List (moderate evidence)	NDUFB8	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 32, 618252 Tags
Amber Amber List (moderate evidence)	NDUFS1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 Tags
Amber Amber List (moderate evidence)	NDUFS3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 8, 618230 Tags
Amber Amber List (moderate evidence)	NDUFS4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 1, 252010 Tags
Amber Amber List (moderate evidence)	NDUFS6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 9, 618232 Tags
Amber Amber List (moderate evidence)	NDUFS7	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 3, 618224 Tags
Amber Amber List (moderate evidence)	NDUFV1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 4, 618225 Tags
Amber Amber List (moderate evidence)	NF1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Amber London South GLH NHS GMS Phenotypes Neurofibromatosis, type 1 162200 Noonan syndrome Neurofibromatosis syndrome 1 Neurofibromatosis-Noonan syndrome 601321 Neurofibromatosis Noonan syndrome Neurofibromatosis-Noonan Syndrome Tags
Amber Amber List (moderate evidence)	NUBPL	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 21, 618242 Tags
Amber Amber List (moderate evidence)	PDLIM3	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS South West GLH Tags
Amber Amber List (moderate evidence)	PET100	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex IV deficiency, 220110 Tags
Amber Amber List (moderate evidence)	PNPLA2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS South West GLH Phenotypes DCM Neutral lipid storage disease with myopathy NLSDM Lipid myopathy, muscle weakness Jordans anomaly - neutral lipidcontaining vacuoles in leukocytes Tags
Amber Amber List (moderate evidence)	RASA2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber London South GLH NHS GMS Phenotypes Noonan syndrome? Tags
Amber Amber List (moderate evidence)	RHBDF1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Dilated cardiomyopathy, MONDO:0005021 Tags watchlist
Amber Amber List (moderate evidence)	RNF220	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Other Phenotypes Dilated cardiomyopathy,MONDO:0005021 Tags
Amber Amber List (moderate evidence)	RPL3L	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neonatal dilated cardiomyopathy dilated cardiomyopathy, MONDO:0005021 Tags
Amber Amber List (moderate evidence)	SDHA	5 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS South West GLH Phenotypes Paragangliomas 5, 614165 Cardiomyopathy, dilated, 1GG, 613642 Mitochondrial Respiratory Chain Complex II Deficiency Leigh syndrome, 256000 Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial respiratory chain complex II deficiency, 252011 Isolated complex II deficiency Cardiomyopathy, dilated, 1GG Tags
Amber Amber List (moderate evidence)	SDHAF1	5 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial respiratory chain complex II deficiency, 252011 Tags
Amber Amber List (moderate evidence)	SDHD	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial respiratory chain complex II deficiency, 252011 Tags
Amber Amber List (moderate evidence)	SGCD	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS South West GLH Phenotypes Cardiomyopathy, dilated, 1L, 606685 Tags
Amber Amber List (moderate evidence)	SGSH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mucopolysaccharidosis, Type III MUCOPOLYSACCHARIDOSIS TYPE 3A MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses) Mucopolysaccharidosis Type III Mucopolysaccharidosis Type IIIA Tags
Amber Amber List (moderate evidence)	SHMT2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, OMIM:619121 Tags
Amber Amber List (moderate evidence)	SLC30A5	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Perinatal lethal cardiomyopathy cardiomyopathy, MONDO:0004994 Tags watchlist
Amber Amber List (moderate evidence)	SURF1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Charcot-Marie-Tooth disease, type 4K, 616684 Leigh syndrome, due to COX IV deficiency, 256000 Tags
Amber Amber List (moderate evidence)	TAB2	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber London South GLH NHS GMS Phenotypes Congenital heart defects, nonsyndromic, 2, OMIM:614980 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	TMEM126B	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 29, 618250 Tags
Amber Amber List (moderate evidence)	TOR1AIP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072 Autosomal recessive limb-girdle muscular dystrophy type 2Y, MONDO:0014900 Tags
Amber Amber List (moderate evidence)	UQCC2	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824 Tags
Red Red List (low evidence)	ANKRD1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London South GLH NHS GMS South West GLH Phenotypes Dilated Cardiomyopathy, Dominant Tags
Red Red List (low evidence)	APOPT1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061 Tags
Red Red List (low evidence)	B3GAT3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London South GLH NHS GMS Phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600 B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Tags
Red Red List (low evidence)	BCS1L	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex III deficiency, nuclear type 1, 124000 Leigh syndrome, 256000 Tags
Red Red List (low evidence)	BTK	1 review 1 red	Not set	Sources Expert Review Red NHS GMS Tags
Red Red List (low evidence)	COA7	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387 Tags
Red Red List (low evidence)	COX6A1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Charcot-Marie-Tooth disease, recessive intermediate D, 616039 Tags
Red Red List (low evidence)	CPS1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London South GLH NHS GMS Phenotypes Carbamoylphosphate synthetase I deficiency Carbamoylphosphate synthetase I deficiency (Urea cycle disorders and inherited hyperammonaemias) Tags
Red Red List (low evidence)	CTF1	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS South West GLH Tags
Red Red List (low evidence)	CYC1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex III deficiency, nuclear type 6, 615453 Tags
Red Red List (low evidence)	DHCR7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London South GLH NHS GMS Phenotypes Cataracts Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis) Disorders of sex development IUGR and IGF abnormalities Intellectual disability Tags
Red Red List (low evidence)	DTNA	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London South GLH NHS GMS South West GLH Phenotypes Left ventricular noncompaction 1, with or without congenital heart defects, Tags
Red Red List (low evidence)	ETFA	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II) Glutaric acidemia IIA Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia Electron transfer flavoprotein deficiency, alpha chain (Disorders of mitochondrial fatty acid oxidation) HCM Tags
Red Red List (low evidence)	ETFB	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Glutaric acidemia IIB Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II) Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia Electron transfer flavoprotein deficiency, beta chain (Disorders of mitochondrial fatty acid oxidation) HCM Tags
Red Red List (low evidence)	ETFDH	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Disorders of ubiquinone metabolism and biosynthesis GLUTARIC ACIDURIA TYPE 2C Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation) Glutaric acidemia IIC Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II) Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia HCM Tags
Red Red List (low evidence)	GALNS	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mucopolysaccharidosis IVA, 253000 Mucopolysaccharidosis Type IVA MUCOPOLYSACCHARIDOSIS TYPE 4A Mucopolysaccharidosis, Type IV MPS IVA, Morquio A disease (MPS IV, Morquio disease) Tags
Red Red List (low evidence)	GBE1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS South West GLH Phenotypes Glycogen storage disease IV, OMIM:232500 Tags
Red Red List (low evidence)	GLRA1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red London South GLH NHS GMS Phenotypes Hyperekplexia, hereditary 1, 149400 Tags
Red Red List (low evidence)	GNS	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mucopolysaccharidosis type IIID, 252940 Mucopolysaccharidosis, Type III MPS IIID, Sanfilippo D disease (Mucopolysaccharidoses) Mucopolysaccharidosis Type IIID Mucopolysaccharidosis Type III Tags
Red Red List (low evidence)	ILK	2 reviews 2 red	Unknown	Sources Expert Review Red NHS GMS South West GLH Tags
Red Red List (low evidence)	17q11.2 recurrent region (includes NF1) Loss ISCA-37431-Loss Region	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Red Phenotypes dysmorphic features, cardiac anomalies and mental retardation 613675 variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors NF1 MICRODELETION SYNDROME NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME Chromosome 17q11.2 deletion syndrome, 1.4Mb Tags
Red Red List (low evidence)	KIF20A	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes ?Cardiomyopathy, familial restrictive, 6, OMIM:619433 Tags
Red Red List (low evidence)	LAMA4	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS South West GLH Tags
Red Red List (low evidence)	LYRM7	4 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex III deficiency, nuclear type 8, 615838 Tags
Red Red List (low evidence)	MCM10	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Restrictive cardiomyopathy, MONDO:0005201 Tags
Red Red List (low evidence)	NDUFA6	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 33, OMIM:618253 Tags
Red Red List (low evidence)	NDUFA9	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 26, 618247 Tags
Red Red List (low evidence)	NDUFAF6	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 17, 612392 Tags
Red Red List (low evidence)	NDUFAF8	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	NEBL	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS South West GLH Tags
Red Red List (low evidence)	SPRED1	4 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Red NHS GMS Phenotypes Legius syndrome 611431 Tags
Red Red List (low evidence)	TACO1	4 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex IV deficiency, 220110 Tags
Red Red List (low evidence)	TCAP	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS South West GLH Phenotypes Congenital muscular dystrophies Cardiomyopathy, dilated, 1N Tags
Red Red List (low evidence)	TGFB3	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London South GLH NHS GMS South West GLH Phenotypes Arrhythmogenic right ventricular dysplasia 1 Tags
Red Red List (low evidence)	TMPO	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS South West GLH Phenotypes Dilated Cardiomyopathy, Dominant Tags
Red Red List (low evidence)	TTC19	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex III deficiency, nuclear type 2, 615157 Tags
Red Red List (low evidence)	UQCRB	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158 Tags
No list No list	KBTBD13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Tags

Major version comments

2023-03-22 15:00 Arina Puzriakova (Genomics England Curator) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

2022-11-30 14:40 Arina Puzriakova (Genomics England Curator) promoted panel to 2.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (2.0) following this.

2019-12-09 15:16 Ivone Leong (Genomics England Curator) promoted panel to 1.0
The content of this panel (version 0.62) was signed off under NHS Genomic Medicine Service governance on (09/12/2019). The panel was promoted to the next major version (version 1.0) as a result of this.

Paediatric or syndromic cardiomyopathy (Version 3.47)

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