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
ALG3	gene	ALG3	Expert Review Amber;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	ALG3-congenital disorder of glycosylation, MONDO:0010998			Cardiomyopathy;HP:0001638	38917675;31067009		False	2	0;100;0	1.359	True		ENSG00000214160	ENSG00000214160	HGNC:23056													
ATP5PO	gene	ATP5PO	Expert Review Amber;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MONDO:0957255			Cardiomyopathy;HP:0001638	40913360;35621276		False	2	0;100;0	1.359	True		ENSG00000241837	ENSG00000241837	HGNC:850													
CACNA1C	gene	CACNA1C	Expert list;Expert Review Amber;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hypertrophic cardiomyopathy, MONDO:0005045, CACNA1C-related			Cardiomyopathy;HP:0001638	26253506;28490369;28866666		False	2	0;100;0	1.359	True		ENSG00000151067	ENSG00000151067	HGNC:1390													
CDH2	gene	CDH2	Expert list;Expert Review Amber	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Arrhythmogenic right ventricular dysplasia, familial, 14, OMIM#618920			Cardiomyopathy;HP:0001638	28280076		False	2	0;100;0	1.359	True		ENSG00000170558	ENSG00000170558	HGNC:1759													
COX10	gene	COX10	Expert Review Amber;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	mitochondrial complex IV deficiency, nuclear type 3, MONDO:0033635			Cardiomyopathy;HP:0001638	30588737;12928484		False	2	0;100;0	1.359	True		ENSG00000006695	ENSG00000006695	HGNC:2260													
COX14	gene	COX14	Expert Review Amber;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex IV deficiency, nuclear type 10, MIM# 619053			Cardiomyopathy;HP:0001638	22243966		False	2	0;100;0	1.359	True		ENSG00000178449	ENSG00000178449	HGNC:28216													
COX6B1	gene	COX6B1	Expert Review Amber;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051			Cardiomyopathy;HP:0001638	18499082;24781756		False	2	0;100;0	1.359	True		ENSG00000126267	ENSG00000126267	HGNC:2280													
CRLS1	gene	CRLS1	Expert Review Amber;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 57, MIM# 620167			Cardiomyopathy;HP:0001638	35147173		False	2	0;100;0	1.359	True		ENSG00000088766	ENSG00000088766	HGNC:16148													
DPM3	gene	DPM3	Expert Review Amber;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	DPM3-congenital disorder of glycosylation, MONDO:0013049			Cardiomyopathy;HP:0001638	35932216		False	2	0;100;0	1.359	True		ENSG00000179085	ENSG00000179085	HGNC:3007													
DSC2	gene	DSC2	Expert Review Amber;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	familial isolated arrhythmogenic right ventricular dysplasia, MONDO:0016342			Cardiomyopathy;HP:0001638	20197793;24793512;26310507		False	2	0;100;0	1.359	True		ENSG00000134755	ENSG00000134755	HGNC:3036													
ETFDH	gene	ETFDH	Expert Review Amber;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282			Cardiomyopathy;HP:0001638	24816252;27604308;30027710		False	2	0;100;0	1.359	True		ENSG00000171503	ENSG00000171503	HGNC:3483													
EYA4	gene	EYA4	Expert Review Amber;London South GLH;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, dilated, 1J, MIM# 605362			Cardiomyopathy;HP:0001638	10769282;30155266		False	2	0;100;0	1.359	True		ENSG00000112319	ENSG00000112319	HGNC:3522													
FHL2	gene	FHL2	Expert Review;Expert Review Amber	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, MONDO:0004994, FHL2-related			Cardiomyopathy;HP:0001638	36854411;25358972		False	2	0;100;0	1.359	True		ENSG00000115641	ENSG00000115641	HGNC:3703													
FOXRED1	gene	FOXRED1	Expert Review Amber;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex I deficiency, nuclear type 19, MIM# 618241			Cardiomyopathy;HP:0001638	20858599		False	2	0;100;0	1.359	True		ENSG00000110074	ENSG00000110074	HGNC:26927													
GLA	gene	GLA	Expert Review Amber;Expert Review Green;London South GLH;MetBioNet;NHS GMS;South West GLH;Victorian Clinical Genetics Services	Cardiomyopathy_Paediatric		Cardiovascular disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	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			Cardiomyopathy;HP:0001638	27604308		False	2	50;0;50	1.359	False		ENSG00000102393	ENSG00000102393	HGNC:4296													
HFE	gene	HFE	Expert Review Amber;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Haemochromatosis, type 1, MIM# 235200			Cardiomyopathy;HP:0001638	27604308;36724119		False	2	0;100;0	1.359	True		ENSG00000010704	ENSG00000010704	HGNC:4886													
HGSNAT	gene	HGSNAT	Expert Review Amber;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM#252930			Cardiomyopathy;HP:0001638	27604308;21048366		False	2	0;100;0	1.359	True		ENSG00000165102	ENSG00000165102	HGNC:26527													
ITPA	gene	ITPA	Expert Review Amber;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	inosine triphosphatase deficiency, MONDO:0013461			Cardiomyopathy;HP:0001638	30856165;30816001		False	2	0;100;0	1.359	True		ENSG00000125877	ENSG00000125877	HGNC:6176													
JPH2	gene	JPH2	Expert Review Amber;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Cardiomyopathy, hypertrophic, MIM#613873;Cardiomyopathy, dilated, 2E, MIM# 619492			Cardiomyopathy;HP:0001638	30681346;17509612;23973696;26869393;28393127;30235249;29540472;31227780;29165669;27471098;30384889;31227780;10949023;23715556		False	2	33;67;0	1.359	True		ENSG00000149596	ENSG00000149596	HGNC:14202													
KGD4	gene	KGD4	Expert Review Amber;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Leigh syndrome - MONDO:0009723, MRPS36/KGD4-related			Cardiomyopathy;HP:0001638	PMID: 41018056;38685873		False	2	0;100;0	1.359	True		ENSG00000134056	ENSG00000134056	HGNC:16631													
MCM10	gene	MCM10	Expert Review Amber;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313;Restrictive cardiomyopathy			Cardiomyopathy;HP:0001638	32865517;33712616		False	2	0;100;0	1.359	True		ENSG00000065328	ENSG00000065328	HGNC:18043													
MMUT	gene	MMUT	Expert Review Amber;MetBioNet;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, MONDO:0009612			Cardiomyopathy;HP:0001638	27604308;33453710;32754920		False	2	0;100;0	1.359	True		ENSG00000146085	ENSG00000146085	HGNC:7526													
MT-ND6	gene	MT-ND6	Expert Review Amber;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	MITOCHONDRIAL	Mitochondrial disease (MONDO:0044970), MT-ND6-related			Cardiomyopathy;HP:0001638	34933128		False	2	0;100;0	1.359	True		ENSG00000198695	ENSG00000198695	HGNC:7462													
MYLK3	gene	MYLK3	Expert Review Amber;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	dilated cardiomyopathy, MONDO:0005021, MYLK3-related			Cardiomyopathy;HP:0001638	29235529;31244672;32213617;32870709		False	2	0;100;0	1.359	True		ENSG00000140795	ENSG00000140795	HGNC:29826													
MYPN	gene	MYPN	Expert Review Amber;Literature;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital myopathy 24, MIM# 617336;Cardiomyopathy, dilated, 1KK, MIM# 615248;Cardiomyopathy, hypertrophic, 22, MIM# 615248			Cardiomyopathy;HP:0001638			False	2	0;50;50	1.359	True		ENSG00000138347	ENSG00000138347	HGNC:23246													
NAA15	gene	NAA15	Expert Review Amber;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Mental retardation, autosomal dominant 50, MIM#	617787;cardiomyopathy"			Cardiomyopathy;HP:0001638	33103328		False	2	0;50;50	1.359	True		ENSG00000164134	ENSG00000164134	HGNC:30782													
NDUFA11	gene	NDUFA11	Expert Review Amber;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex I deficiency, nuclear type 14, 618236			Cardiomyopathy;HP:0001638	18306244;31074871		False	2	0;100;0	1.359	True		ENSG00000174886	ENSG00000174886	HGNC:20371													
NDUFA2	gene	NDUFA2	Expert Review Amber;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex I deficiency, nuclear type 13, MIM# 618235			Cardiomyopathy;HP:0001638	18513682		False	2	0;100;0	1.359	True		ENSG00000131495	ENSG00000131495	HGNC:7685													
NDUFA5	gene	NDUFA5	Expert Review Amber;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial disease, MONDO:0044970, NDUFA5-related			Cardiomyopathy;HP:0001638	41916321		False	2	0;100;0	1.359	True		ENSG00000128609	ENSG00000128609	HGNC:7688													
NDUFAF4	gene	NDUFAF4	Expert Review Amber;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex I deficiency, nuclear type 15, 618237			Cardiomyopathy;HP:0001638	32949790;28853723;18179882		False	2	0;100;0	1.359	True		ENSG00000123545	ENSG00000123545	HGNC:21034													
NDUFB7	gene	NDUFB7	Expert Review;Expert Review Amber	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135			Cardiomyopathy;HP:0001638	33502047;27626371		False	2	0;100;0	1.359	True		ENSG00000099795	ENSG00000099795	HGNC:7702													
NDUFB8	gene	NDUFB8	Expert Review Amber;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex I deficiency, nuclear type 32, MIM# 618252			Cardiomyopathy;HP:0001638	29429571;27290639		False	2	0;100;0	1.359	True		ENSG00000166136	ENSG00000166136	HGNC:7703													
NEK8	gene	NEK8	Expert Review Amber;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Renal-hepatic-pancreatic dysplasia 2 MIM#615415			Cardiomyopathy;HP:0001638	26967905		False	2	0;100;0	1.359	True		ENSG00000160602	ENSG00000160602	HGNC:13387													
PIGA	gene	PIGA	Expert Review Amber;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Multiple congenital anomalies-hypotonia-seizures syndrome 2 MIM#300868			Cardiomyopathy;HP:0001638	32452540;37489290		False	2	0;100;0	1.359	True		ENSG00000165195	ENSG00000165195	HGNC:8957													
PLEKHM2	gene	PLEKHM2	Expert Review Amber;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	dilated cardiomyopathy, MONDO:0005021, PLEKHM2-related			Cardiomyopathy;HP:0001638	37349842;36555735;35862026;34088011;26464484		False	2	0;100;0	1.359	True		ENSG00000116786	ENSG00000116786	HGNC:29131													
POPDC2	gene	POPDC2	Expert Review Amber;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Cardiac conduction disease with or without cardiomyopathy 2, MIM# 621367			Cardiomyopathy;HP:0001638	41456958;40409267		False	2	0;100;0	1.359	True		ENSG00000121577	ENSG00000121577	HGNC:17648													
PPP1CB	gene	PPP1CB	Expert List;Expert Review Amber;London South GLH;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Noonan syndrome-like disorder with loose anagen hair 2, MIM#617506			Cardiomyopathy;HP:0001638	27264673;28211982;27681385;30368668		False	2	0;100;0	1.359	True		ENSG00000213639	ENSG00000213639	HGNC:9282													
RASA2	gene	RASA2	Expert Review Amber;London South GLH;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Noonan syndrome MONDO:0018997, RASA2-related			Cardiomyopathy;HP:0001638	PMID: 25049390		False	2	0;100;0	1.359	True		ENSG00000155903	ENSG00000155903	HGNC:9872													
RHBDF1	gene	RHBDF1	Expert Review Amber;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Dilated cardiomyopathy			Cardiomyopathy;HP:0001638	32870709		False	2	0;100;0	1.359	True		ENSG00000007384	ENSG00000007384	HGNC:20561													
SCO1	gene	SCO1	Expert Review Amber;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex IV deficiency, nuclear type 4, MIM# 619048			Cardiomyopathy;HP:0001638	11013136;19295170;31352446;23878101		False	2	0;100;0	1.359	True		ENSG00000133028	ENSG00000133028	HGNC:10603													
SDHD	gene	SDHD	Expert Review Amber;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial respiratory chain complex II deficiency, 252011			Cardiomyopathy;HP:0001638	26008905;24367056		False	2	0;100;0	1.359	True		ENSG00000204370	ENSG00000204370	HGNC:10683													
SGSH	gene	SGSH	Expert Review Amber;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Mucopolysaccharidosis type IIIA (Sanfilippo A) MIM#252900			Cardiomyopathy;HP:0001638	2789611:40160092		False	2	0;100;0	1.359	True		ENSG00000181523	ENSG00000181523	HGNC:10818													
SLC30A5	gene	SLC30A5	Expert Review Amber;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Cardiomyopathy MONDO:0004994, SLC30A5-related;Perinatal lethal cardiomyopathy			Cardiomyopathy;HP:0001638	33547425;12095919		False	2	0;100;0	1.359	True		ENSG00000145740	ENSG00000145740	HGNC:19089													
SLC6A8	gene	SLC6A8	Expert Review Amber;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Cerebral creatine deficiency syndrome 1 MIM#300352			Cardiomyopathy;HP:0001638	34050321		False	2	0;100;0	1.359	True		ENSG00000130821	ENSG00000130821	HGNC:11055													
SOS2	gene	SOS2	Expert List;Expert Review Amber;London South GLH;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Noonan syndrome 9, MIM# 616559			Cardiomyopathy;HP:0001638	26173643;25795793		False	2	0;100;0	1.359	True	Other - please provide details in the comments	ENSG00000100485	ENSG00000100485	HGNC:11188													
SPRED2	gene	SPRED2	Expert Review Amber;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	"Noonan syndrome 14, MIM#	619745"			Cardiomyopathy;HP:0001638	34626534		False	2	0;100;0	1.359	True		ENSG00000198369	ENSG00000198369	HGNC:17722													
STX4	gene	STX4	Expert Review Amber;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Deafness, autosomal recessive 123, MIM# 620745			Cardiomyopathy;HP:0001638	36355422;35599850		False	2	0;100;0	1.359	True		ENSG00000103496	ENSG00000103496	HGNC:11439													
TKFC	gene	TKFC	Expert Review Amber;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Triokinase and FMN cyclase deficiency syndrome, MIM#618805			Cardiomyopathy;HP:0001638	39251934;32004446		False	2	0;100;0	1.359	True		ENSG00000149476	ENSG00000149476	HGNC:24552													
TRMT5	gene	TRMT5	Expert Review Amber;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	combined oxidative phosphorylation defect type 26, MONDO:0014684			Cardiomyopathy;HP:0001638	26189817		False	2	0;100;0	1.359	True		ENSG00000126814	ENSG00000126814	HGNC:23141													
UQCRB	gene	UQCRB	Expert Review Amber;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex III deficiency, nuclear type 3, 615158			Cardiomyopathy;HP:0001638	12709789;25446085;28604960		False	2	0;100;0	1.359	True		ENSG00000156467	ENSG00000156467	HGNC:12582													
WDR59	gene	WDR59	Expert Review Amber;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Syndromic disease, MONDO:0002254			Cardiomyopathy;HP:0001638	41715954		False	2	0;100;0	1.359	True		ENSG00000103091	ENSG00000103091	HGNC:25706