Cardiomyopathy_Paediatric (Version 0.196)

Description

With thanks to Genomics England PanelApp for the original design of this panel.

This panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.

Panel Activity

23 reviewers

Kristin Rigbye (Victorian Clinical Genetics Services)
John Christodoulou (Murdoch Children's Research Institute)
Tiong Tan (Victorian Clinical Genetics Services)
Sarah Donoghue (Royal Children's Hospital)
Paul De Fazio (Victorian Clinical Genetics Services)
Ivan Macciocca (Victorian Clinical Genetics Services)
Ivan Macciocca (Victorian Clinical Genetics Services)
Ain Roesley (Victorian Clinical Genetics Services)
Chirag Patel (Genetic Health Queensland)
Krithika Murali (Victorian Clinical Genetics Services)
Michelle Torres (Victorian Clinical Genetics Services)
Suliman Khan (Victorian Clinical Genetics Services)
Dean Phelan (Victorian Clinical Genetics Services)
Sarah Pantaleo (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Chern Lim (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Naomi Baker (Victorian Clinical Genetics Services)
Paul De Fazio (Victorian Clinical Genetics Services)
Seb Lunke (Victorian Clinical Genetics Services)
Melanie Marty (Victorian Clinical Genetics Services)
Daniel Flanagan (Victorian Clinical Genetics Services)
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

241 Entities

107 reviewed, 161 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 241 Entitiess
Green Green List (high evidence)	AARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 8, 614096 infantile mitochondrial cardiomyopathy 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)	ABCC9	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS South West GLH Phenotypes Hypertrichotic osteochondrodysplasia (Cantu syndrome), MIM# 239850 Cardiomyopathy, dilated, 1O Dilated Cardiomyopathy, Dominant Tags
Green Green List (high evidence)	ACAD9	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 20, 611126 Tags treatable
Green Green List (high evidence)	ACADVL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS South West GLH Phenotypes Liver disease, hepatomegaly, hypoketotic hypoglycaemia Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation) Very long chain acyl-CoA dehydrogenase deficiency (VLCADD) (severe form) DCM, mixed syndromic HCM VLCAD deficiency HCM Tags treatable
Green Green List (high evidence)	ACTA1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Hypertrophic cardiomyopathy Nemaline myopathy 3, autosomal dominant or recessive 161800 Dilated cardiomyopathy Myopathy, congenital, with fiber-type disproportion 1 255310 CMD with rigid spine Tags
Green Green List (high evidence)	ACTC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Cardiomyopathy, dilated, 1R Left ventricular noncompaction 4 Left Ventricular Noncompaction Cardiomyopathy Hypertrophic Cardiomyopathy Cardiomyopathy, familial hypertrophic, 11 Tags
Green Green List (high evidence)	ACTN2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS South West GLH Victorian Clinical Genetics Services Phenotypes Dilated Cardiomyopathy, Dominant Tags
Green Green List (high evidence)	AGK	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Sengers syndrome, 212350 Tags
Green Green List (high evidence)	AGL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Glycogen Storage Disorders- Liver Glycogen Storage Disorders- Muscle Glycogen Storage Disease Type III Ketotic hypoglycaemia, hyperlipidaemia, raised transaminases HCM Glycogen storage disease type IIIa (debrancher enzyme deficiency) myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance syndromic HCM Glycogen storage disease type III, Cori (Glycogen storage disorders) Hypertrophic-hypocontractile cardiomyopathy Glycogen storage disease IIIa, 232400 Glycogen Storage Disease Glycogen storage disease IIIb, 232400 Tags
Green Green List (high evidence)	ALMS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green NHS GMS Phenotypes OMIM 203800 Tags
Green Green List (high evidence)	ALPK3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cardiomyopathy, familial hypertrophic 27, 618052 Tags
Green Green List (high evidence)	ARSB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes MPS VI, Maroteaux - Lamy disease (MPS IV, Morquio disease) Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 Mucopolysaccharidosis Type VI Mucopolysaccharidosis, Type VI MUCOPOLYSACCHARIDOSIS TYPE 6 Tags
Green Green List (high evidence)	ATAD3A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Harel-Yoon syndrome, MIM# 617183 Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME), MIM# 618810 perinatal cardiomyopathy cataracts corneal clouding Tags SV/CNV
Green Green List (high evidence)	ATP5D	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial complex V (ATP synthase) deficiency, 618120 Tags
Green Green List (high evidence)	BAG3	0 reviews	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)	BRAF	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Noonan syndrome 7 613706 Cardiofaciocutaneous syndrome 115150 syndromic HCM Tags
Green Green List (high evidence)	C1QBP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 33, MIM#617713 Tags
Green Green List (high evidence)	CACNA1C	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Expert Review Green NHS GMS Tags
Green Green List (high evidence)	CAMK2D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), CAMK2D-related Tags
Green Green List (high evidence)	CAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cardiomyopathy, dilated, 2I (MIM#620462) Tags
Green Green List (high evidence)	CASZ1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Dilated cardiomyopathy, MONDO:0005021, CASZ1-related left ventricular non compaction Tags
Green Green List (high evidence)	CBL	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green 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
Green Green List (high evidence)	COA6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 616501 Tags
Green Green List (high evidence)	COQ4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 7, MIM# 616276 Tags treatable
Green Green List (high evidence)	COQ9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Coenzyme Q10 deficiency, primary, 5, MIM# 614654 dev delay hypothermia seizures, cardiomyopathy left ventricular noncompaction truncal hypotonia peripheral hypotonia brain MRI abnormalities microcephaly Tags
Green Green List (high evidence)	COX10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial complex IV deficiency, 220110 Tags
Green Green List (high evidence)	COX15	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Leigh syndrome due to cytochrome c oxidase deficiency, 256000 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 Tags
Green Green List (high evidence)	COX20	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial complex IV deficiency, 220110 Tags
Green Green List (high evidence)	CPT2	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS South West GLH Phenotypes Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia Carnitine palmitoyltransferase II (CPT2) deficiency (neonatal & infantile forms) CPT II deficiency, lethal neonatal 608836 CPT deficiency, hepatic, type II 600649 HCM, mixed DCM Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle) Tags treatable
Green Green List (high evidence)	CSRP3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS South West GLH Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1M Cardiomyopathy, familial hypertrophic, 12 Tags
Green Green List (high evidence)	DES	1 review 1 red	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	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS South West GLH Phenotypes Duchenne muscular dystrophy, 310200 Cardiomyopathy, dilated, 3B Dilated Cardiomyopathy, X-Linked Becker muscular dystrophy, 300376 Tags
Green Green List (high evidence)	DNAJC19	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS South West GLH Phenotypes 3-methylglutaconic aciduria, type V, 610198 Disorders of the mitochondrial import system dilated cardiomyopathy with ataxia syndrome 3-methylglutaconic aciduria, type V Tags
Green Green List (high evidence)	DOLK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes DK1-CDG, MONDO:0012556 Congenital disorder of glycosylation, type Im, MIM# 610768 Tags
Green Green List (high evidence)	DSC2	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes Arrhythmogenic right ventricular dysplasia 11 Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair Tags
Green Green List (high evidence)	DSG2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS South West GLH Phenotypes Arrhythmogenic right ventricular dysplasia 10 Cardiomyopathy, dilated, 1BB, Tags
Green Green List (high evidence)	DSP	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes Arrhythmogenic right ventricular dysplasia 8 Dilated cardiomyopathy with woolly hair and keratoderma Tags
Green Green List (high evidence)	ELAC2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 17, MIM# 615440 cardiomyopathy hypotonia growth failure dev delay microcephaly sensorineural deafness brain MRI abnormalities Tags
Green Green List (high evidence)	EMD	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS South West GLH Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 Tags
Green Green List (high evidence)	EPG5	0 reviews	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)	FAH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes HCM Tyrosinaemia type 1 (fumarylactoacetase deficiency) Liver failure, vomiting, renal tubulopathy Tyrosinemia, type I Tags treatable
Green Green List (high evidence)	FHL1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green NHS GMS South West GLH Tags
Green Green List (high evidence)	FHOD3	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Phenotypes Cardiomyopathy, familial hypertrophic, 28, MIM# 619402 Tags
Green Green List (high evidence)	FKTN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Dilated Cardiomyopathy, Recessive Fukuyama Congenital Muscular Dystrophy Fukuyama congenital muscular dystrophy 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 Cardiomyopathy, dilated, 1X Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Tags
Green Green List (high evidence)	FLII	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cardiomyopathy, dilated, 2J, MIM# 620635 Tags
Green Green List (high evidence)	FLNC	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green NHS GMS Tags
Green Green List (high evidence)	FNIP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705 Tags
Green Green List (high evidence)	GAA	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH MetBioNet NHS GMS South West GLH Phenotypes HCM, mixed Glycogen storage disease II, 232300 syndromic HCM Hypotonia, muscle weakness, progressive respiratory failure Glycogen storage disease type II (Pompe disease) Tags
Green Green List (high evidence)	GLB1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS South West GLH Phenotypes Mucopolysaccharidosis Type IVB MUCOPOLYSACCHARIDOSIS TYPE 4B MPS IVB, Morquio B disease (MPS IV, Morquio disease) Mucopolysaccharidosis, Type IV GM1-gangliosidosis, type III, 230650 GM1-gangliosidosis (Sphingolipidoses) GM1-gangliosidosis, type II, 230600 syndromic HCM GM1-gangliosidosis, type I, 230500 Mucopolysaccharidosis type IVB (Morquio), 253010 Tags
Green Green List (high evidence)	GTPBP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 23 MIM#616198 Tags
Green Green List (high evidence)	GUSB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS South West GLH Phenotypes Mucopolysaccharidosis VII, 253220 Mucopolysaccharidosis, Type VII syndromic HCM MUCOPOLYSACCHARIDOSIS TYPE 7 Mucopolysaccharidosis Type VII MPS VII, Sly disease (MPS IV, Morquio disease) Tags
Green Green List (high evidence)	HADHA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Trifunctional protein deficiency 609015 Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation) Mitochondrial Trifunctional Protein deficiency Liver disease, hypotonia, hypoketotic hypoglycaemia, neuropathy, lactic acidosis, retinopathy, hypoparathyroidism HCM Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) Tags treatable
Green Green List (high evidence)	HADHB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH MetBioNet NHS GMS Phenotypes Trifunctional protein deficiency 609015 Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation) Mitochondrial Trifunctional Protein deficiency Liver disease, hypotonia, hypoketotic hypoglycaemia, neuropathy, lactic acidosis, retinopathy, hypoparathyroidism HCM Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) Tags treatable
Green Green List (high evidence)	HCN4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Tags
Green Green List (high evidence)	HRAS	0 reviews	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)	HSD17B10	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 Literature Phenotypes HSD10 mitochondrial disease, MIM# 300438 intellectual disability regression seizures cardiomyopathy (dilated or hypertrophic) choreoathetosis optic atrophy retinal degeneration Tags
Green Green List (high evidence)	IDH2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS South West GLH Phenotypes D-2-hydroxyglutaric aciduria 2, 613657 Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias) D-2-hydroxyglutaric aciduria 2 Tags
Green Green List (high evidence)	IDS	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green MetBioNet NHS GMS Phenotypes MPS II, Hunter disease (Mucopolysaccharidoses) MUCOPOLYSACCHARIDOSIS TYPE 2 Mucopolysaccharidosis Type II Mucopolysaccharidosis II, 309900 Tags
Green Green List (high evidence)	IDUA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Scheie syndrome Hurler-Scheie syndrome Mucopolysaccharidosis type 1H Mucopolysaccharidosis Ih/s, 607015 Mucopolysaccharidosis Ih, 607014 Mucopolysaccharidosis type 1S Hurler syndrome MPS I, Hurler, Scheie disease (Mucopolysaccharidoses) Mucopolysaccharidosis, Type I Mucopolysaccharidosis type 1H/S Mucopolysaccharidosis Is, 607016 Tags
Green Green List (high evidence)	JUP	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes Arrhythmogenic right ventricular dysplasia 12 Tags
Green Green List (high evidence)	KRAS	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Cardiofaciocutaneous syndrome 2, MIM# 615278 Noonan syndrome 3, MIM# 609942 Tags
Green Green List (high evidence)	LAMP2	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 London South GLH NHS GMS South West GLH Victorian Clinical Genetics Services Phenotypes Danon disease syndromic HCM Tags
Green Green List (high evidence)	LDB3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes Cardiomyopathy, dilated, 1C, with or without LVNC, MIM# 601493 Tags
Green Green List (high evidence)	LMNA	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Cardiomyopathy, dilated, 1A Emery-Dreifuss muscular dystrophy 2, AD, 181350 Congenital Muscular Dystrophy, LMNA-related (Dominant) Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Tags
Green Green List (high evidence)	LMOD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dilated cardiomyopathy MONDO:0005021 Tags
Green Green List (high evidence)	LRPPRC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Leigh syndrome, French-Canadian type, 220111 Tags
Green Green List (high evidence)	LZTR1	0 reviews	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	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green London South GLH NHS GMS South West GLH Phenotypes ?Noonan syndrome Cardiofaciocutaneous Syndrome Cardio-Facio-Cutaneous syndrome Cardiofaciocutaneous syndrome 3 syndromic HCM CFC syndrome LEOPARD syndrome Tags
Green Green List (high evidence)	MAP2K2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Cardiofaciocutaneous syndrome 4 615280 Cardio-Facio-Cutaneous syndrome type 4 Cardiofaciocutaneous Syndrome Cardio-Facio-Cutaneous syndrome Cardiofaciocutaneous syndrome 4 syndromic HCM CFC syndrome Tags
Green Green List (high evidence)	MIPEP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 31, MIM# 617228 cardiomyopathy left ventricular noncompaction seizures hypotonia dev delay cataracts Tags
Green Green List (high evidence)	MLYCD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes malonic aciduria 3.5.1. Malonyl CoA decarboxylase deficiency Other disorders of fatty acid and ketone body metabolism) Malonic aciduria Malonyl-CoA decarboxylase deficiency (Organic acidurias) Mild clinical features. Developmental delay, epilepsy Malonyl-CoA decarboxylase deficiency HCM Hypertrophic-hypocontractile cardiomyopathy Tags treatable
Green Green List (high evidence)	MRAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Noonan syndrome, MIM#618499 Tags
Green Green List (high evidence)	MRPL44	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 16, 615395 Tags
Green Green List (high evidence)	MRPS22	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 5 , MIM#611719 hypertrophic or dilated cardiomyopathy microcephaly hypotonia spastic tetraplegia abnormal brain MRI Tags
Green Green List (high evidence)	MUT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS South West GLH Phenotypes Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap Methylmalonic aciduria Methylmalonic aciduria, mut(0) type 251000 DCM Methylmalonyl-CoA mutase deficiency (Organic acidurias) Hypertrophic-hypocontractile cardiomyopathy metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections. Tags treatable
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, Left ventricular noncompaction 10, Cardiomyopathy, dilated, 1MM Hypertrophic cardiomyopathy Tags
Green Green List (high evidence)	MYH7	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Left ventricular noncompaction 5 Cardiomyopathy, familial hypertrophic, 1, Hypertrophic cardiomyopathy Cardiomyopathy, dilated, 1S Tags
Green Green List (high evidence)	MYL2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, MIM# 619424 Cardiomyopathy, hypertrophic, 10, MIM# 608758 Tags
Green Green List (high evidence)	MYL3	1 review 1 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)	NDUFA1	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 12, 301020 Tags
Green Green List (high evidence)	NDUFA10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 22, 618243 Tags
Green Green List (high evidence)	NDUFA2	0 reviews	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	0 reviews	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)	NDUFAF2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 10, 618233 Tags
Green Green List (high evidence)	NDUFAF3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 18, 618240 Tags
Green Green List (high evidence)	NDUFAF5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 16, 616238 Tags
Green Green List (high evidence)	NDUFB11	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 MetBioNet NHS GMS Phenotypes Linear skin defects with multiple congenital anomalies 3, 300952 ?Mitochondrial complex I deficiency, nuclear type 30, 301021 Tags
Green Green List (high evidence)	NDUFB3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 25, 618246 Tags
Green Green List (high evidence)	NDUFS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 5, 618226 Tags
Green Green List (high evidence)	NDUFS2	0 reviews	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)	NDUFS3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 8, 618230 Tags
Green Green List (high evidence)	NDUFS4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 1, 252010 Tags
Green Green List (high evidence)	NDUFS6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 9, 618232 Tags
Green Green List (high evidence)	NDUFS7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 3, 618224 Tags
Green Green List (high evidence)	NDUFS8	0 reviews	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)	NDUFV1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 4, 618225 Tags
Green Green List (high evidence)	NDUFV2	0 reviews	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 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red London South GLH NHS GMS South West GLH Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, familial hypertrophic, 20, Cardiomyopathy, dilated, 1CC Tags
Green Green List (high evidence)	NF1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green London South GLH NHS GMS Phenotypes Neurofibromatosis, type 1 162200 Neurofibromatosis Noonan syndrome Neurofibromatosis syndrome 1 Neurofibromatosis-Noonan syndrome 601321 Neurofibromatosis-Noonan Syndrome Noonan syndrome Tags
Green Green List (high evidence)	NKX2-5	0 reviews	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	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green 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 Tags
Green Green List (high evidence)	NRAS	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Noonan syndrome 6 613224 CFC Syndrome Cardio-Facio-cutanenous syndrome syndromic HCM Noonan syndrome 6 Noonan syndrome Tags
Green Green List (high evidence)	NUBPL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 21, 618242 Tags
Green Green List (high evidence)	PCCA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS South West GLH Phenotypes metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections Propionic acidemia Propionicacidemia 606054 Propionic aciduria Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap DCM Propionic aciduria (Organic acidurias) Hypertrophic-hypocontractile cardiomyopathy Propionicacidemia Tags
Green Green List (high evidence)	PCCB	0 reviews	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) Propionic acidemia Propionicacidemia 606054 Propionic aciduria Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap DCM Propionic aciduria (Organic acidurias) Hypertrophic-hypocontractile cardiomyopathy Propionicacidemia Tags treatable
Green Green List (high evidence)	PGM1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Congenital disorder of glycosylation, type It, MIM# 614921 Dilated cardiomyopathy Tags treatable
Green Green List (high evidence)	PKP2	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes Dilated cardiomyopathy, MONDO:0005021, PKP2-related Arrhythmogenic right ventricular dysplasia 9 Arrhythmogenic right ventricular cardiomyopathy Tags
Green Green List (high evidence)	PLD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cardiac valvular defect, developmental, MIM# 212093 neonatal cardiomyopathy Tags founder
Green Green List (high evidence)	PLN	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS South West GLH Phenotypes Cardiomyopathy, familial hypertrophic, 18, Cardiomyopathy, dilated, 1P Tags
Green Green List (high evidence)	PMM2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type Ia, MIM# 212065 hypotonia intellectual disability cerebellar signs pericarditis cardiomyopathy cardiac malformation chronic diarrhoea protein-losing enteropathy ascites cover failure nephrotic syndrome hydros Tags
Green Green List (high evidence)	PNPLA2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS South West GLH Phenotypes DCM Lipid myopathy, muscle weakness Jordans anomaly - neutral lipidcontaining vacuoles in leukocytes Neutral lipid storage disease with myopathy NLSDM 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	0 reviews	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	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519 Tags
Green Green List (high evidence)	PRDM16	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Cardiomyopathy, dilated, 1LL MIM#615373 Left ventricular noncompaction 8 MIM#615373 Tags
Green Green List (high evidence)	PRKAG2	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLHSouth West GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, familial hypertrophic 6, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome syndromic HCM Tags
Green Green List (high evidence)	PTPN11	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green London South GLH NHS GMS South West GLH Phenotypes LEOPARD syndrome 1 Noonan syndrome 1 163950 LEOPARD syndrome 1 151100 syndromic HCM Noonan syndrome 1 LEOPARD syndrome Noonan syndrome Tags
Green Green List (high evidence)	RAF1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Cardiomyopathy, dilated, 1NN, MIM# 615916 Noonan syndrome 5, MIM# 611553 Tags
Green Green List (high evidence)	RBCK1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Tags
Green Green List (high evidence)	RBM20	0 reviews	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	0 reviews	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)	RNF220	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688 Leukodystrophy CNS hypomyelination Ataxia Intellectual disability Sensorineural hearing impairment Elevated hepatic transaminases Hepatic fibrosis Dilated cardiomyopathy Spastic paraplegia Dysarthria Abnormality of the corpus callosum Tags founder
Green Green List (high evidence)	RPL3L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cardiomyopathy, dilated, 2D, MIM# 619371 Neonatal dilated cardiomyopathy Tags
Green Green List (high evidence)	RRAGC	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Long-Olsen syndrome, MIM# 620609 Tags
Green Green List (high evidence)	RRAGD	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Inherited renal tubular disease, MONDO:0015962, RRAGD-related dilated cardiomyopathy hypomagnesaemia renal salt-wasting nephrocalcinosis Tags
Green Green List (high evidence)	RYR2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Literature NHS GMS South West GLH Phenotypes Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy Arrhythmogenic right ventricular dysplasia 2, 600996 Tags
Green Green List (high evidence)	SCN5A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS South West GLH Phenotypes Dilated cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy Brugada syndrome Cardiomyopathy, dilated, 1E Long QT syndrome Tags
Green Green List (high evidence)	SCO2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Myopia 6, 608908 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex IV Deficiency syndromic HCM Isolated complex IV deficiency Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 Tags
Green Green List (high evidence)	SDHA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes Cardiomyopathy, dilated, 1GG Leigh syndrome, 256000 Mitochondrial respiratory chain complex II deficiency, 252011 Mitochondrial Respiratory Chain Complex II Deficiency Paragangliomas 5, 614165 Isolated complex II deficiency Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Cardiomyopathy, dilated, 1GG, 613642 Tags
Green Green List (high evidence)	SDHAF1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial respiratory chain complex II deficiency, 252011 Tags
Green Green List (high evidence)	SDHD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial respiratory chain complex II deficiency, 252011 Tags
Green Green List (high evidence)	SGCD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes Cardiomyopathy, dilated, 1L, 606685 Tags
Green Green List (high evidence)	SHMT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121 Congenital microcephaly Infantile axial hypotonia Spastic paraparesis Global developmental delay Intellectual disability Abnormality of the corpus callosum Abnormal cortical gyration Hypertrophic cardiomyopathy Abnormality of the face Proximal placement of thumb 2-3 toe syndactyly Tags
Green Green List (high evidence)	SHOC2	0 reviews	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	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS South West GLH Phenotypes Carnitine deficiency, systemic primary MIM#212140 Tags treatable
Green Green List (high evidence)	SLC25A20	0 reviews	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 acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle) Carnitine acylcarnitines translocase deficiency CAT HCM, DCM Tags treatable
Green Green List (high evidence)	SLC25A4	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions Hypertrophic cardiomyopathy Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418 Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of mitochondrial DNA maintenance and integrity Disorders of mitochondrial protein transport Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283 Tags
Green Green List (high evidence)	SOS1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Noonan syndrome Noonan syndrome 4 Noonan syndrome 4 610733 syndromic HCM Tags
Green Green List (high evidence)	SOS2	0 reviews	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	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dilated cardiomyopathy centronuclear myopathy Tags
Green Green List (high evidence)	SURF1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Charcot-Marie-Tooth disease, type 4K, 616684 Leigh syndrome, due to COX IV deficiency, 256000 Tags
Green Green List (high evidence)	TAB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS Phenotypes Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like Congenital heart defects, nonsyndromic, 2 (MIM#614980) Tags
Green Green List (high evidence)	TAZ	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London South GLH MetBioNet NHS GMS South West GLH Phenotypes Barth syndrome, 302060 Dilated Cardiomyopathy, X-Linked Left Ventricular Noncompaction Cardiomyopathy Neutropenia, muscle weakness, growth retardation Non-compaction cardiomyopathy HCM, mixed Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of mitochondrial lipid metabolism Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias) Barth syndrome Tags
Green Green List (high evidence)	TBX20	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Dilated cardiomyopathy, MONDO:0005021, TBX20-related Tags
Green Green List (high evidence)	TBX5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Holt-Oram syndrome, MIM# 142900 Dilated cardiomyopathy Tags
Green Green List (high evidence)	TMEM126B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 29, 618250 Tags
Green Green List (high evidence)	TMEM43	0 reviews	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	0 reviews	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	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Cardiomyopathy, familial hypertrophic, 13, Cardiomyopathy, dilated, 1Z Tags
Green Green List (high evidence)	TNNI3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Cardiomyopathy, dilated, 2A, Cardiomyopathy, familial hypertrophic, 7 Cardiomyopathy, dilated, 1FF Hypertrophic cardiomyopathy Tags
Green Green List (high evidence)	TNNI3K	0 reviews	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	1 review 1 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)	TOR1AIP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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
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 Left ventricular noncompaction 9, Cardiomyopathy, dilated, 1Y Cardiomyopathy, familial hypertrophic, 3 Tags
Green Green List (high evidence)	TSFM	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Combined oxidative phosphorylation deficiency 3, 610505 Combined oxidative phosphorylation deficiency 3 610505 Tags
Green Green List (high evidence)	TTN	1 review	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	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS South West GLH Phenotypes syndromic HCM Tags
Green Green List (high evidence)	UQCRFS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial complex III deficiency, nuclear type 10, MIM# 618775 cardiomyopathy thrombocytopenia hypotonia Tags
Green Green List (high evidence)	VCL	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red NHS GMS South West GLH Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, familial hypertrophic, 15, Cardiomyopathy, dilated, 1W Tags
Amber Amber List (moderate evidence)	CDH2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Arrhythmogenic right ventricular dysplasia, familial, 14, OMIM#618920 Tags
Amber Amber List (moderate evidence)	COX14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 10, MIM# 619053 Tags
Amber Amber List (moderate evidence)	COX6B1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051 Tags
Amber Amber List (moderate evidence)	COX7B	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review 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, MIM# 620167 Tags
Amber Amber List (moderate evidence)	CRYAB	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS South West GLH Phenotypes Cardiomyopathy, dilated, 1II, Myopathy, myofibrillar, fatal infantile hypertrophy, alpha B crystallin related, 613869 Tags
Amber Amber List (moderate evidence)	EYA4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber London South GLH NHS GMS South West GLH Phenotypes Cardiomyopathy, dilated, 1J, MIM# 605362 Tags
Amber Amber List (moderate evidence)	FASTKD2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes ?Mitochondrial complex IV deficiency, 220110 Tags
Amber Amber List (moderate evidence)	FHL2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Phenotypes Cardiomyopathy, MONDO:0004994, FHL2-related Tags
Amber Amber List (moderate evidence)	FKRP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Tags
Amber Amber List (moderate evidence)	FOXRED1	0 reviews	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	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Tags
Amber Amber List (moderate evidence)	GLA	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 Amber Expert Review Green London South GLH MetBioNet NHS GMS South West GLH Victorian Clinical Genetics Services Phenotypes Fabry disease, cardiac variant, 301500 Fabry disease (Sphingolipidoses) Fabry disease, 301500 Fabry Disease HCM syndromic HCM Limb pain, angiokeratom Fabry disease HCM is a late complication in adults, also found in female carriers Tags
Amber Amber List (moderate evidence)	HFE	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Hemochromatosis, 235200 Hemochromatosis Hereditary haemochromatosis Type 1 (Disorder of iron metabolism) DCM Haemochromatosis Iron overload, liver disease, diabetes, hypogonadism HCM Hypertrophic-hypocontractile cardiomyopathy Tags
Amber Amber List (moderate evidence)	HGSNAT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses) Mucopolysaccharidosis Type III Mucopolysaccharidosis Type IIIC Mucopolysaccharidosis, Type III Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 Retinitis Pigmentosa 73 Tags
Amber Amber List (moderate evidence)	JPH2	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Cardiomyopathy, hypertrophic, MIM#613873 Cardiomyopathy, dilated, 2E, MIM# 619492 Tags
Amber Amber List (moderate evidence)	MCM10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313 Restrictive cardiomyopathy Tags
Amber Amber List (moderate evidence)	MMACHC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS South West GLH Phenotypes Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap Methylmalonic aciduria DCM Methylmalonic aciduria and homocystinuria, cblC type, 277400 Hypertrophic-hypocontractile cardiomyopathy Tags
Amber Amber List (moderate evidence)	MT-TI	2 reviews	MITOCHONDRIAL	Sources Expert Review Amber Expert Review Green Literature NHS GMS Tags
Amber Amber List (moderate evidence)	MYLK3	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Dilated cardiomyopathy Tags
Amber Amber List (moderate evidence)	MYPN	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature NHS GMS South West GLH Phenotypes Congenital myopathy 24, MIM# 617336 Cardiomyopathy, dilated, 1KK, MIM# 615248 Cardiomyopathy, hypertrophic, 22, MIM# 615248 Tags
Amber Amber List (moderate evidence)	NAA15	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Mental retardation, autosomal dominant 50, MIM# 617787 cardiomyopathy Tags
Amber Amber List (moderate evidence)	NAGLU	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mucopolysaccharidosis Type III MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses) Mucopolysaccharidosis, Type III MUCOPOLYSACCHARIDOSIS TYPE 3B Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 Mucopolysaccharidosis Type IIIB Tags
Amber Amber List (moderate evidence)	NDUFA11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 14, 618236 Tags
Amber Amber List (moderate evidence)	NDUFAF4	1 review	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)	NDUFB7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135 Tags
Amber Amber List (moderate evidence)	NDUFB8	0 reviews	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)	PET100	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex IV deficiency, 220110 Tags
Amber Amber List (moderate evidence)	RASA2	0 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	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Dilated cardiomyopathy Tags
Amber Amber List (moderate evidence)	SCO1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 4, MIM# 619048 Tags
Amber Amber List (moderate evidence)	SGSH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mucopolysaccharidosis Type IIIA Mucopolysaccharidosis Type III MUCOPOLYSACCHARIDOSIS TYPE 3A MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses) Mucopolysaccharidosis, Type III Tags
Amber Amber List (moderate evidence)	SLC30A5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Perinatal lethal cardiomyopathy Tags
Amber Amber List (moderate evidence)	SPRED2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Noonan syndrome 14, MIM# 619745 Tags
Amber Amber List (moderate evidence)	UQCC2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex III deficiency, nuclear type 7, 615824 Tags
Amber Amber List (moderate evidence)	UQCRB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex III deficiency, nuclear type 3, 615158 Tags
Red Red List (low evidence)	ANK2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS Phenotypes Cardiac arrhythmia, ankyrin-B-related MIM#600919 Long QT syndrome 4 MIM#600919 Tags
Red Red List (low evidence)	ANKRD1	1 review 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	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex IV deficiency, 220110 Tags
Red Red List (low evidence)	ASNA1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Dilated cardiomyopathy, MONDO:0001644, ASNA1-related Tags
Red Red List (low evidence)	ATPAF2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 Tags
Red Red List (low evidence)	B3GAT3	0 reviews	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	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Leigh syndrome, 256000 Mitochondrial complex III deficiency, nuclear type 1, 124000 Tags
Red Red List (low evidence)	BTK	0 reviews	Unknown	Sources Expert Review Red NHS GMS Tags
Red Red List (low evidence)	COA5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS South West GLH Phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, MIM# 616500 Tags
Red Red List (low evidence)	COA7	0 reviews	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	0 reviews	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	0 reviews	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	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS South West GLH Tags
Red Red List (low evidence)	CYC1	0 reviews	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	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London South GLH NHS GMS Phenotypes Cataracts Intellectual disability Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis) Disorders of sex development IUGR and IGF abnormalities Tags
Red Red List (low evidence)	DTNA	0 reviews	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	0 reviews	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 Electron transfer flavoprotein deficiency, alpha chain (Disorders of mitochondrial fatty acid oxidation) HCM Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia Tags
Red Red List (low evidence)	ETFB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II) HCM Glutaric acidemia IIB Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia Electron transfer flavoprotein deficiency, beta chain (Disorders of mitochondrial fatty acid oxidation) Tags
Red Red List (low evidence)	ETFDH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II) Glutaric acidemia IIC Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) HCM ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation) Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia Disorders of ubiquinone metabolism and biosynthesis GLUTARIC ACIDURIA TYPE 2C Tags
Red Red List (low evidence)	GALNS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mucopolysaccharidosis Type IVA MPS IVA, Morquio A disease (MPS IV, Morquio disease) MUCOPOLYSACCHARIDOSIS TYPE 4A Mucopolysaccharidosis, Type IV Mucopolysaccharidosis IVA, 253000 Tags
Red Red List (low evidence)	GBE1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS South West GLH Phenotypes Glycogen Storage Disorders- Liver Glycogen Storage Disorders- Muscle Glycogen storage disease type IV, Andersen (Glycogen storage disorders) Glycogen storage disease IV, 232500 hypotonia, exercise intolerance, polyglucosan bodies in affected tissues Glycogen Storage Disease Type IV failure to thrive in addition to hepatomegaly van have neuromuscular adult form ( polyglucosan body ideas which presents with neurogenic bladder, gait difficulties DCM Polyglucosan body disease, adult form, 263570 Glycogen storage disease type IV (brancher enzyme deficiency), neuromuscular form Hypertrophic-hypocontractile cardiomyopathy Glycogen Storage Disease Tags
Red Red List (low evidence)	GLRA1	0 reviews	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	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mucopolysaccharidosis type IIID, 252940 Mucopolysaccharidosis Type III Mucopolysaccharidosis Type IIID Mucopolysaccharidosis, Type III MPS IIID, Sanfilippo D disease (Mucopolysaccharidoses) Tags
Red Red List (low evidence)	GSN	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Amyloidosis, Finnish type, MIM# 105120 Tags
Red Red List (low evidence)	ILK	0 reviews	Unknown	Sources Expert Review Red NHS GMS South West GLH Tags
Red Red List (low evidence)	KIF20A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Cardiomyopathy, familial restrictive, 6, MIM# 619433 Tags
Red Red List (low evidence)	LAMA4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS South West GLH Tags
Red Red List (low evidence)	LYRM7	0 reviews	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)	MIB1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London South GLH NHS GMS South West GLH Phenotypes Left ventricular noncompaction 7, MIM# 615092 cardiomyopathy Tags
Red Red List (low evidence)	MRPS14	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Combined oxidative phosphorylation deficiency 38, MIM# 618378 hypertrophic cardiomyopathy growth retardation hypotonia intellectual disability Tags
Red Red List (low evidence)	MYH6	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London South GLH NHS GMS South West GLH Phenotypes Cardiomyopathy, familial hypertrophic, 14 Cardiomyopathy, dilated, 1EE Tags
Red Red List (low evidence)	NDUFA4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065 Tags
Red Red List (low evidence)	NDUFA6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 33, 618253 Tags
Red Red List (low evidence)	NDUFA9	0 reviews	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	0 reviews	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	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	NEBL	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Red Literature NHS GMS South West GLH Tags
Red Red List (low evidence)	PDLIM3	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature NHS GMS South West GLH Phenotypes Hypertrophic cardiomyopathy Tags
Red Red List (low evidence)	SPRED1	0 reviews	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	0 reviews	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 Victorian Clinical Genetics Services Phenotypes Congenital muscular dystrophies Cardiomyopathy, dilated, 1N Tags
Red Red List (low evidence)	TGFB3	0 reviews	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	0 reviews	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	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex III deficiency, nuclear type 2, 615157 Tags

Cardiomyopathy_Paediatric (Version 0.196)

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