Entity Name	Entity type	Gene Symbol	Sources(; separated)	Level4	Level3	Level2	Model_Of_Inheritance	Phenotypes	Omim	Orphanet	HPO	Publications	Description	Flagged	GEL_Status	UserRatings_Green_amber_red	version	ready	Mode of pathogenicity	EnsemblId(GRch37)	EnsemblId(GRch38)	HGNC	Position Chromosome	Position GRCh37 Start	Position GRCh37 End	Position GRCh38 Start	Position GRCh38 End	STR Repeated Sequence	STR Normal Repeats	STR Pathogenic Repeats	Region Haploinsufficiency Score	Region Triplosensitivity Score	Region Required Overlap Percentage	Region Variant Type	Region Verbose Name
ANK2	gene	ANK2	Expert Review Red;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cardiac arrhythmia, ankyrin-B-related MIM#600919;Long QT syndrome 4 MIM#600919			Cardiomyopathy;HP:0001638			False	1	0;0;0	0.231	True		ENSG00000145362	ENSG00000145362	HGNC:493													
ANKRD1	gene	ANKRD1	Expert Review Red;London South GLH;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Dilated Cardiomyopathy, Dominant			Cardiomyopathy;HP:0001638			False	1	0;0;100	0.231	False		ENSG00000148677	ENSG00000148677	HGNC:15819													
APOPT1	gene	APOPT1	Expert Review Red;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex IV deficiency, 220110			Cardiomyopathy;HP:0001638			False	1	0;0;0	0.231	False		ENSG00000256053	ENSG00000256053	HGNC:20492													
ASNA1	gene	ASNA1	Expert Review Red;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Dilated cardiomyopathy, MONDO:0001644, ASNA1-related			Cardiomyopathy;HP:0001638	31461301;16797549		False	1	0;0;100	0.231	True		ENSG00000198356	ENSG00000198356	HGNC:752													
ATPAF2	gene	ATPAF2	Expert Review Red;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273			Cardiomyopathy;HP:0001638	14757859		False	1	0;0;100	0.231	True		ENSG00000171953	ENSG00000171953	HGNC:18802													
B3GAT3	gene	B3GAT3	Expert Review Red;London South GLH;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	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)			Cardiomyopathy;HP:0001638	27604308		False	1	0;0;0	0.231	False		ENSG00000149541	ENSG00000149541	HGNC:923													
BCS1L	gene	BCS1L	Expert Review Red;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Leigh syndrome, 256000;Mitochondrial complex III deficiency, nuclear type 1, 124000			Cardiomyopathy;HP:0001638			False	1	0;0;0	0.231	False		ENSG00000074582	ENSG00000074582	HGNC:1020													
BTK	gene	BTK	Expert Review Red;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	Unknown				Cardiomyopathy;HP:0001638			False	1	0;0;0	0.231	False		ENSG00000010671	ENSG00000010671	HGNC:1133													
COA5	gene	COA5	Expert Review Red;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, MIM# 616500			Cardiomyopathy;HP:0001638	27604308;36641477		False	1	0;0;100	0.231	True		ENSG00000183513	ENSG00000183513	HGNC:33848													
COA7	gene	COA7	Expert Review Red;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387			Cardiomyopathy;HP:0001638	29718187;27683825		False	1	0;0;0	0.231	False		ENSG00000162377	ENSG00000162377	HGNC:25716													
COX6A1	gene	COX6A1	Expert Review Red;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Charcot-Marie-Tooth disease, recessive intermediate D, 616039			Cardiomyopathy;HP:0001638			False	1	0;0;0	0.231	False		ENSG00000111775	ENSG00000111775	HGNC:2277													
CPS1	gene	CPS1	Expert Review Red;London South GLH;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Carbamoylphosphate synthetase I deficiency;Carbamoylphosphate synthetase I deficiency (Urea cycle disorders and inherited hyperammonaemias)			Cardiomyopathy;HP:0001638	24816252;27604308		False	1	0;0;0	0.231	False		ENSG00000021826	ENSG00000021826	HGNC:2323													
CTF1	gene	CTF1	Expert Review Red;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown				Cardiomyopathy;HP:0001638			False	1	0;0;0	0.231	False		ENSG00000150281	ENSG00000150281	HGNC:2499													
CYC1	gene	CYC1	Expert Review Red;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex III deficiency, nuclear type 6, 615453			Cardiomyopathy;HP:0001638			False	1	0;0;0	0.231	False		ENSG00000179091	ENSG00000179091	HGNC:2579													
DHCR7	gene	DHCR7	Expert Review Red;London South GLH;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Cataracts;Intellectual disability;Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis);Disorders of sex development;IUGR and IGF abnormalities			Cardiomyopathy;HP:0001638	27604308		False	1	0;0;0	0.231	False		ENSG00000172893	ENSG00000172893	HGNC:2860													
DTNA	gene	DTNA	Expert Review Red;London South GLH;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Left ventricular noncompaction 1, with or without congenital heart defects,			Cardiomyopathy;HP:0001638			False	1	0;0;0	0.231	False		ENSG00000134769	ENSG00000134769	HGNC:3057													
ETFA	gene	ETFA	Expert Review Red;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	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			Cardiomyopathy;HP:0001638	27604308		False	1	0;0;0	0.231	False		ENSG00000140374	ENSG00000140374	HGNC:3481													
ETFB	gene	ETFB	Expert Review Red;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	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)			Cardiomyopathy;HP:0001638	27604308		False	1	0;0;0	0.231	False		ENSG00000105379	ENSG00000105379	HGNC:3482													
ETFDH	gene	ETFDH	Expert Review Red;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	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			Cardiomyopathy;HP:0001638	24816252;27604308		False	1	0;0;0	0.231	False		ENSG00000171503	ENSG00000171503	HGNC:3483													
GALNS	gene	GALNS	Expert Review Red;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Mucopolysaccharidosis Type IVA;MPS IVA, Morquio A disease (MPS IV, Morquio disease);MUCOPOLYSACCHARIDOSIS TYPE 4A;Mucopolysaccharidosis, Type IV;Mucopolysaccharidosis IVA, 253000			Cardiomyopathy;HP:0001638	27604308		False	1	0;0;0	0.231	False		ENSG00000141012	ENSG00000141012	HGNC:4122													
GBE1	gene	GBE1	Expert Review Red;MetBioNet;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	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			Cardiomyopathy;HP:0001638	27604308		False	1	0;0;0	0.231	False		ENSG00000114480	ENSG00000114480	HGNC:4180													
GLRA1	gene	GLRA1	Expert Review Red;London South GLH;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hyperekplexia, hereditary 1, 149400			Cardiomyopathy;HP:0001638			False	1	0;0;0	0.231	False		ENSG00000145888	ENSG00000145888	HGNC:4326													
GNS	gene	GNS	Expert Review Red;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Mucopolysaccharidosis type IIID, 252940;Mucopolysaccharidosis Type III;Mucopolysaccharidosis Type IIID;Mucopolysaccharidosis, Type III;MPS IIID, Sanfilippo D disease (Mucopolysaccharidoses)			Cardiomyopathy;HP:0001638	27604308		False	1	0;0;0	0.231	False		ENSG00000135677	ENSG00000135677	HGNC:4422													
GSN	gene	GSN	Expert list;Expert Review Red	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Amyloidosis, Finnish type, MIM#	105120"			Cardiomyopathy;HP:0001638	26339870		False	1	0;0;100	0.231	True		ENSG00000148180	ENSG00000148180	HGNC:4620													
ILK	gene	ILK	Expert Review Red;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	Unknown				Cardiomyopathy;HP:0001638			False	1	0;0;0	0.231	False		ENSG00000166333	ENSG00000166333	HGNC:6040													
KIF20A	gene	KIF20A	Expert Review Red;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	"Cardiomyopathy, familial restrictive, 6, MIM#	619433"			Cardiomyopathy;HP:0001638	29357359		False	1	0;0;100	0.231	True		ENSG00000112984	ENSG00000112984	HGNC:9787													
LAMA4	gene	LAMA4	Expert Review Red;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted				Cardiomyopathy;HP:0001638			False	1	0;0;0	0.231	False		ENSG00000112769	ENSG00000112769	HGNC:6484													
LYRM7	gene	LYRM7	Expert Review Red;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex III deficiency, nuclear type 8, 615838			Cardiomyopathy;HP:0001638	29353736		False	1	0;0;0	0.231	False		ENSG00000186687	ENSG00000186687	HGNC:28072													
MIB1	gene	MIB1	Expert Review Red;London South GLH;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Left ventricular noncompaction 7, MIM# 615092;cardiomyopathy			Cardiomyopathy;HP:0001638	30322850;23314057		False	1	0;50;50	0.231	True		ENSG00000101752	ENSG00000101752	HGNC:21086													
MRPS14	gene	MRPS14	Expert Review Red;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 38, MIM# 618378;hypertrophic cardiomyopathy;growth retardation;hypotonia;intellectual disability			Cardiomyopathy;HP:0001638	PMID: 30358850		False	1	0;0;100	0.231	True		ENSG00000120333	ENSG00000120333	HGNC:14049													
MYH6	gene	MYH6	Expert Review Red;London South GLH;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, familial hypertrophic, 14;Cardiomyopathy, dilated, 1EE			Cardiomyopathy;HP:0001638			False	1	0;0;100	0.231	True		ENSG00000197616	ENSG00000197616	HGNC:7576													
MYO19	gene	MYO19	Expert Review Red;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Hypertrophic cardiomyopathy MONDO:0005045, MYO19-related			Cardiomyopathy;HP:0001638	40634996		False	1	0;0;100	0.231	True		-	-	HGNC:26234													
NDUFA4	gene	NDUFA4	Expert Review Red;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065			Cardiomyopathy;HP:0001638	23746447;29636225;30361421;28988874		False	1	0;0;100	0.231	True		ENSG00000189043	ENSG00000189043	HGNC:7687													
NDUFA6	gene	NDUFA6	Expert Review Red;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex I deficiency, nuclear type 33, 618253			Cardiomyopathy;HP:0001638	30245030		False	1	0;0;0	0.231	False		ENSG00000184983	ENSG00000184983	HGNC:7690													
NDUFA9	gene	NDUFA9	Expert Review Red;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex I deficiency, nuclear type 26, 618247			Cardiomyopathy;HP:0001638	28671271;22114105		False	1	0;0;0	0.231	False		ENSG00000139180	ENSG00000139180	HGNC:7693													
NDUFAF6	gene	NDUFAF6	Expert Review Red;MetBioNet;NHS GMS;Victorian Clinical Genetics Services	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex I deficiency, nuclear type 17, 612392			Cardiomyopathy;HP:0001638			False	1	0;0;0	0.231	False		ENSG00000156170	ENSG00000156170	HGNC:28625													
NDUFAF8	gene	NDUFAF8	Expert Review Red;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	No OMIM phenotype			Cardiomyopathy;HP:0001638	27499296		False	1	0;0;0	0.231	False		ENSG00000224877	ENSG00000224877	HGNC:33551													
NEBL	gene	NEBL	Expert Review Amber;Expert Review Red;Literature;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted				Cardiomyopathy;HP:0001638			False	1	100;0;0	0.231	False		ENSG00000078114	ENSG00000078114	HGNC:16932													
PDLIM3	gene	PDLIM3	Expert Review Red;Literature;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hypertrophic cardiomyopathy			Cardiomyopathy;HP:0001638	25163546;30681346;26455666;20801532		False	1	0;0;100	0.231	True		ENSG00000154553	ENSG00000154553	HGNC:20767													
SPRED1	gene	SPRED1	Expert List;Expert Review Red;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Legius syndrome 611431			Cardiomyopathy;HP:0001638	19366998;19443465;21649642;21548021;17704776		False	1	0;0;0	0.231	False		ENSG00000166068	ENSG00000166068	HGNC:20249													
TACO1	gene	TACO1	Expert Review Red;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex IV deficiency, 220110			Cardiomyopathy;HP:0001638			False	1	0;0;0	0.231	False		ENSG00000136463	ENSG00000136463	HGNC:24316													
TCAP	gene	TCAP	Expert Review Red;NHS GMS;South West GLH;Victorian Clinical Genetics Services	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital muscular dystrophies;Cardiomyopathy, dilated, 1N			Cardiomyopathy;HP:0001638	21530252;23479141		False	1	0;0;100	0.231	False		ENSG00000173991	ENSG00000173991	HGNC:11610													
TGFB3	gene	TGFB3	Expert Review Red;London South GLH;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Arrhythmogenic right ventricular dysplasia 1			Cardiomyopathy;HP:0001638			False	1	0;0;0	0.231	False		ENSG00000119699	ENSG00000119699	HGNC:11769													
TMPO	gene	TMPO	Expert Review Red;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Dilated Cardiomyopathy, Dominant			Cardiomyopathy;HP:0001638			False	1	0;0;100	0.231	False		ENSG00000120802	ENSG00000120802	HGNC:11875													
TTC19	gene	TTC19	Expert Review Red;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex III deficiency, nuclear type 2, 615157			Cardiomyopathy;HP:0001638			False	1	0;0;0	0.231	False		ENSG00000011295	ENSG00000011295	HGNC:26006