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
AARS2	gene	AARS2	Expert Review Green;London South GLH;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	combined oxidative phosphorylation defect type 8, MONDO:0013570			Cardiomyopathy;HP:0001638	25058219;21549344;40863384;37293078;30285085;29440775;25705216		False	3	100;0;0	1.359	True		ENSG00000124608	ENSG00000124608	HGNC:21022													
ABCC9	gene	ABCC9	Expert Review Green;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypertrichotic osteochondrodysplasia (Cantu syndrome), MIM# 239850;Cardiomyopathy, dilated, 1O;Dilated Cardiomyopathy, Dominant			Cardiomyopathy;HP:0001638	15034580;27532257;28991257;36129056;31575858;15034580		False	3	50;50;0	1.359	True		ENSG00000069431	ENSG00000069431	HGNC:60													
ACAD9	gene	ACAD9	Expert Review Green;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	acyl-CoA dehydrogenase 9 deficiency, MONDO:0012624			Cardiomyopathy;HP:0001638	30025539;26669660;21057504		False	3	100;0;0	1.359	True		ENSG00000177646	ENSG00000177646	HGNC:21497													
ACADVL	gene	ACADVL	Expert Review Green;MetBioNet;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	VLCAD deficiency, MIM#201475			Cardiomyopathy;HP:0001638	27604308;24285112;9973285;National Metabolic Biochemistry Network Best Practice Guidelines Investigation of An Inherited Metabolic Cause of Cardiomyopathy, Authors: Ann Bowron, Simon Olpin (13 Jul 2012) http://www.metbio.net/metbioGuidelines.asp		False	3	100;0;0	1.359	True		ENSG00000072778	ENSG00000072778	HGNC:92													
ACTA1	gene	ACTA1	Expert Review Green;London South GLH;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	congenital fiber-type disproportion myopathy, MONDO:0009711			Cardiomyopathy;HP:0001638	39503885;38559046;35757965;32969603;16945537		False	3	100;0;0	1.359	True		ENSG00000143632	ENSG00000143632	HGNC:129													
ACTC1	gene	ACTC1	Expert Review Green;London South GLH;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Cardiomyopathy, hypertrophic, 11, MIM#	612098"			Cardiomyopathy;HP:0001638			False	3	100;0;0	1.359	True		ENSG00000159251	ENSG00000159251	HGNC:143													
ACTN2	gene	ACTN2	Expert Review Green;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, hypertrophic, 23, with or without LVNC, MIM# 612158			Cardiomyopathy;HP:0001638	30681346		False	3	50;50;0	1.359	True		ENSG00000077522	ENSG00000077522	HGNC:164													
AGK	gene	AGK	Expert Review Green;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Sengers syndrome, MIM#212350			Cardiomyopathy;HP:0001638	37354892		False	3	100;0;0	1.359	True		ENSG00000006530	ENSG00000006530	HGNC:21869													
AGL	gene	AGL	Expert Review Green;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Glycogen storage disease IIIa and IIIb, MIM#232400			Cardiomyopathy;HP:0001638	27604308;National Metabolic Biochemistry Network Best Practice Guidelines Investigation of An Inherited Metabolic Cause of Cardiomyopathy, Authors: Ann Bowron, Simon Olpin (13 Jul 2012) http://www.metbio.net/metbioGuidelines.asp		False	3	100;0;0	1.359	True		ENSG00000162688	ENSG00000162688	HGNC:321													
ALMS1	gene	ALMS1	Expert Review;Expert Review Green;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Cardiomyopathy, MONDO:0004994			Cardiomyopathy;HP:0001638	15689433		False	3	100;0;0	1.359	True		ENSG00000116127	ENSG00000116127	HGNC:428													
ALPK3	gene	ALPK3	Expert Review Green;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Cardiomyopathy, familial hypertrophic 27 MIM#618052			Cardiomyopathy;HP:0001638	34263907;35783621;26846950;27106955;32480058		False	3	100;0;0	1.359	True		ENSG00000136383	ENSG00000136383	HGNC:17574													
ARSB	gene	ARSB	Expert Review Green;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	mucopolysaccharidosis type 6, MONDO:0009661			Cardiomyopathy;HP:0001638	27604308;36495517;32075597		False	3	100;0;0	1.359	True		ENSG00000113273	ENSG00000113273	HGNC:714													
ATAD3A	gene	ATAD3A	Expert Review;Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Harel-Yoon syndrome, MIM# 617183;Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME), MIM# 618810;perinatal cardiomyopathy;cataracts;corneal clouding			Cardiomyopathy;HP:0001638	32004445;27640307		False	3	100;0;0	1.359	True		ENSG00000197785	ENSG00000197785	HGNC:25567													
BAG3	gene	BAG3	Expert Review Green;London South GLH;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	myofibrillar myopathy 6, MONDO:0013061;dilated cardiomyopathy 1HH, MONDO:0013479			Cardiomyopathy;HP:0001638	40757566;40493734;39706847;34011823;30442290;30384889;27443559		False	3	100;0;0	1.359	True		ENSG00000151929	ENSG00000151929	HGNC:939													
BOLA3	gene	BOLA3	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM#614299			Cardiomyopathy;HP:0001638	40273865		False	3	100;0;0	1.359	True		ENSG00000163170	ENSG00000163170	HGNC:24415													
BRAF	gene	BRAF	Expert List;Expert Review Green;London South GLH;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome, MONDO:0018997;cardiofaciocutaneous syndrome 1, MONDO:0007265			Cardiomyopathy;HP:0001638	19206169;21396583;37697378;35770001;35024745;33274568;30732632;29704308;29696744;27569062		False	3	100;0;0	1.359	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000157764	ENSG00000157764	HGNC:1097													
C10orf71	gene	C10orf71	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, dilated, 1QQ, MIM# 621251			Cardiomyopathy;HP:0001638	38950288		False	3	100;0;0	1.359	True		ENSG00000177354	ENSG00000177354	HGNC:26973													
C1QBP	gene	C1QBP	Expert list;Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 33, MIM#617713			Cardiomyopathy;HP:0001638	28942965		False	3	100;0;0	1.359	True		ENSG00000108561	ENSG00000108561	HGNC:1243													
CAMK2D	gene	CAMK2D	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neurodevelopmental disorder (MONDO#0700092), CAMK2D-related			Cardiomyopathy;HP:0001638	38272033		False	3	100;0;0	1.359	True		ENSG00000145349	ENSG00000145349	HGNC:1462													
CAP2	gene	CAP2	Expert list;Expert Review Green	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Cardiomyopathy, dilated, 2I (MIM#620462)			Cardiomyopathy;HP:0001638	PMID: 30518548;33083013;34862840		False	3	100;0;0	1.359	True		ENSG00000112186	ENSG00000112186	HGNC:20039													
CASZ1	gene	CASZ1	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Dilated cardiomyopathy, MONDO:0005021, CASZ1-related;left ventricular non compaction			Cardiomyopathy;HP:0001638	PMID: 28099117;36293425;31268246		False	3	100;0;0	1.359	True		ENSG00000130940	ENSG00000130940	HGNC:26002													
CBL	gene	CBL	Expert List;Expert Review Green;London South GLH;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563			Cardiomyopathy;HP:0001638	19571318;20543203;20619386		False	3	100;0;0	1.359	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000110395	ENSG00000110395	HGNC:1541													
CHKB	gene	CHKB	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy, congenital, megaconial type, MIM# 602541			Cardiomyopathy;HP:0001638	39465137;34962344;33623274;27123443;26067811;25740612		False	3	100;0;0	1.359	True		ENSG00000100288	ENSG00000100288	HGNC:1938													
COA6	gene	COA6	Expert Review Green;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, MONDO:0014668			Cardiomyopathy;HP:0001638	25339201;22277967;25959673;24549041		False	3	100;0;0	1.359	True		ENSG00000168275	ENSG00000168275	HGNC:18025													
COQ2	gene	COQ2	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Coenzyme Q10 deficiency, primary, 1, MIM#607426			Cardiomyopathy;HP:0001638	40929079;33677064		False	3	100;0;0	1.359	True		ENSG00000173085	ENSG00000173085	HGNC:25223													
COQ4	gene	COQ4	Expert Review;Expert Review Green	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Coenzyme Q10 deficiency, primary, 7, MIM# 616276			Cardiomyopathy;HP:0001638	25658047;26185144;33704555		False	3	100;0;0	1.359	True		ENSG00000167113	ENSG00000167113	HGNC:19693													
COQ9	gene	COQ9	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Coenzyme Q10 deficiency, primary, 5, MIM# 614654;dev delay;hypothermia;seizures, cardiomyopathy;left ventricular noncompaction;truncal hypotonia;peripheral hypotonia;brain MRI abnormalities;microcephaly			Cardiomyopathy;HP:0001638	31821167;19375058;29560582		False	3	100;0;0	1.359	True		ENSG00000088682	ENSG00000088682	HGNC:25302													
COX15	gene	COX15	Expert Review Green;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, MONDO:0014051			Cardiomyopathy;HP:0001638	42001949;32232962;26940873;2175025;21412973		False	3	100;0;0	1.359	True		ENSG00000014919	ENSG00000014919	HGNC:2263													
CPT2	gene	CPT2	Expert Review Green;MetBioNet;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	CPT II deficiency, infantile, MIM# 600649;CPT II deficiency, lethal neonatal, MIM# 608836			Cardiomyopathy;HP:0001638	24816252;27604308		False	3	100;0;0	1.359	True		ENSG00000157184	ENSG00000157184	HGNC:2330													
CSRP3	gene	CSRP3	Expert Review Green;NHS GMS;South West GLH;Victorian Clinical Genetics Services	Cardiomyopathy_Paediatric		Cardiovascular disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Cardiomyopathy, hypertrophic, 12, MIM# 612124			Cardiomyopathy;HP:0001638	18505755;30681346;34558151;33035702;31919335;33012304;37431535		False	3	100;0;0	1.359	True		ENSG00000129170	ENSG00000129170	HGNC:2472													
DES	gene	DES	Expert Review Green;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, dilated, 1I, MIM# 604765			Cardiomyopathy;HP:0001638	10430757;20423733		False	3	50;0;50	1.359	True		ENSG00000175084	ENSG00000175084	HGNC:2770													
DMD	gene	DMD	Expert Review Green;NHS GMS;South West GLH	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)	Becker muscular dystrophy, MIM:300376;Cardiomyopathy, dilated, 3B, MIM:302045;Duchenne muscular dystrophy, MIM: 310200			Cardiomyopathy;HP:0001638	8614119;16246949;27230049;29395990;36252992		False	3	100;0;0	1.359	True		ENSG00000198947	ENSG00000198947	HGNC:2928													
DNAJC19	gene	DNAJC19	Expert Review Green;London South GLH;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	3-methylglutaconic aciduria type 5, MONDO:0012435;3-methylgutaconic aciduria, type V, OMIM:610198			Cardiomyopathy;HP:0001638	16055927;22797137;27928778;27604308;27426421		False	3	100;0;0	1.359	True		ENSG00000205981	ENSG00000205981	HGNC:30528													
DNM1L	gene	DNM1L	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 - MIM#614388			Cardiomyopathy;HP:0001638			False	3	100;0;0	1.359	True		ENSG00000087470	ENSG00000087470	HGNC:2973													
DOLK	gene	DOLK	Expert Review Green;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	DK1-CDG, MONDO:0012556;Congenital disorder of glycosylation, type Im, MIM# 610768			Cardiomyopathy;HP:0001638	17273964;22242004;23890587;30653653;28816422;24144945		False	3	100;0;0	1.359	True		ENSG00000175283	ENSG00000175283	HGNC:23406													
DSG2	gene	DSG2	Expert Review Green;NHS GMS;South West GLH;Victorian Clinical Genetics Services	Cardiomyopathy_Paediatric		Cardiovascular disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Arrhythmogenic right ventricular dysplasia 10;Cardiomyopathy, dilated, 1BB,			Cardiomyopathy;HP:0001638	39253717;30454721;33917638;33831308		False	3	100;0;0	1.359	True		ENSG00000046604	ENSG00000046604	HGNC:3049													
DSP	gene	DSP	Expert Review Green;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	arrhythmogenic cardiomyopathy with wooly hair and keratoderma, MONDO:0011581;dilated cardiomyopathy, MONDO:0005021			Cardiomyopathy;HP:0001638	41175027;41108751;40406876;40399739;38992493;38551768;36270459;32969603;31024045;30993396;28699631		False	3	100;0;0	1.359	True		ENSG00000096696	ENSG00000096696	HGNC:3052													
DST	gene	DST	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital myopathy 29 with contractures, MIM#621510			Cardiomyopathy;HP:0001638	40497796		False	3	100;0;0	1.359	True		ENSG00000151914	ENSG00000151914	HGNC:1090													
ELAC2	gene	ELAC2	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 17, MIM# 615440;cardiomyopathy;hypotonia;growth failure;dev delay;microcephaly;sensorineural deafness;brain MRI abnormalities			Cardiomyopathy;HP:0001638	PMID: 23849775: PMID: 28441660		False	3	100;0;0	1.359	True		ENSG00000006744	ENSG00000006744	HGNC:14198													
EMD	gene	EMD	Expert Review Green;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Emery-Dreifuss muscular dystrophy 1, X-linked, MIM#310300			Cardiomyopathy;HP:0001638	42047848;37639473		False	3	100;0;0	1.359	True		ENSG00000102119	ENSG00000102119	HGNC:3331													
EPG5	gene	EPG5	Expert Review Green;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Vici syndrome, MIM# 242840			Cardiomyopathy;HP:0001638	23838600;23674064;26395118;26917586;23222957;25331754;28624465		False	3	100;0;0	1.359	True		ENSG00000152223	ENSG00000152223	HGNC:29331													
FAH	gene	FAH	Expert Review Green;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Tyrosinaemia, type I, MIM# 276700			Cardiomyopathy;HP:0001638	27604308		False	3	100;0;0	1.359	True		ENSG00000103876	ENSG00000103876	HGNC:3579													
FARS2	gene	FARS2	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency MIM#614946			Cardiomyopathy;HP:0001638	33168986;38362779;41588148;34690748		False	3	100;0;0	1.359	True		ENSG00000145982	ENSG00000145982	HGNC:21062													
FBN1	gene	FBN1	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Marfan syndrome MIM#154700			Cardiomyopathy;HP:0001638	39900832;24531548;39379624		False	3	50;50;0	1.359	True		ENSG00000166147	ENSG00000166147	HGNC:3603													
FBXL4	gene	FBXL4	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), MIM#615471			Cardiomyopathy;HP:0001638	28940506		False	3	100;0;0	1.359	True		ENSG00000112234	ENSG00000112234	HGNC:13601													
FHL1	gene	FHL1	Expert list;Expert Review Green;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Emery-Dreifuss muscular dystrophy 6, X-linked, MIM# 300696			Cardiomyopathy;HP:0001638	42304238		False	3	100;0;0	1.359	True		ENSG00000022267	ENSG00000022267	HGNC:3702													
FHOD3	gene	FHOD3	Expert list;Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, familial hypertrophic, 28, MIM# 619402			Cardiomyopathy;HP:0001638	32335906;31742804;30442288		False	3	100;0;0	1.359	True		ENSG00000134775	ENSG00000134775	HGNC:26178													
FKTN	gene	FKTN	Expert Review Green;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	dilated cardiomyopathy 1X, MONDO:0012704;muscular dystrophy-dystroglycanopathy, type A, MONDO:0000171			Cardiomyopathy;HP:0001638	27604308;17036286;23746544;24144914;27521547;35743126		False	3	100;0;0	1.359	True		ENSG00000106692	ENSG00000106692	HGNC:3622													
FLII	gene	FLII	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Cardiomyopathy, dilated, 2J, MIM# 620635			Cardiomyopathy;HP:0001638	32870709;11971982;32980309		False	3	100;0;0	1.359	True		ENSG00000177731	ENSG00000177731	HGNC:3750													
FLNC	gene	FLNC	Expert Review;Expert Review Green;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cardiomyopathy, familial dilated, 1PP, MIM# 617047;Cardiomyopathy, familial hypertrophic, 26, MIM# 617047			Cardiomyopathy;HP:0001638	30411535;31924696;28356264		False	3	100;0;0	1.359	True		ENSG00000128591	ENSG00000128591	HGNC:3756													
FNIP1	gene	FNIP1	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705			Cardiomyopathy;HP:0001638	32181500;32905580		False	3	100;0;0	1.359	True		ENSG00000217128	ENSG00000217128	HGNC:29418													
FXN	gene	FXN	Expert Review;Expert Review Green	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	"Friedreich ataxia, MIM#	229300"			Cardiomyopathy;HP:0001638	41432640;40880907;38396238;34610949;32999401		False	3	100;0;0	1.359	True		ENSG00000165060	ENSG00000165060	HGNC:3951													
GAA	gene	GAA	Expert Review Green;London South GLH;MetBioNet;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Pompe disease, infantile-onset, MIM# 232300			Cardiomyopathy;HP:0001638	27142047		False	3	50;0;50	1.359	True		ENSG00000171298	ENSG00000171298	HGNC:4065													
GBE1	gene	GBE1	Expert Review Green;MetBioNet;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	glycogen storage disease due to glycogen branching enzyme deficiency, MONDO:0009292			Cardiomyopathy;HP:0001638	27604308		False	3	100;0;0	1.359	True		ENSG00000114480	ENSG00000114480	HGNC:4180													
GLB1	gene	GLB1	Expert Review Green;MetBioNet;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	GM1-gangliosidosis, type I, MIM# 230500			Cardiomyopathy;HP:0001638	27604308		False	3	100;0;0	1.359	True		ENSG00000170266	ENSG00000170266	HGNC:4298													
GTPBP3	gene	GTPBP3	Expert Review;Expert Review Green	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 23 MIM#616198			Cardiomyopathy;HP:0001638	34276756;25434004		False	3	100;0;0	1.359	True		ENSG00000130299	ENSG00000130299	HGNC:14880													
GUSB	gene	GUSB	Expert Review Green;MetBioNet;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Mucopolysaccharidosis VII, MIM# 253220			Cardiomyopathy;HP:0001638	27604308		False	3	100;0;0	1.359	True		ENSG00000169919	ENSG00000169919	HGNC:4696													
HADHA	gene	HADHA	Expert Review Green;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	mitochondrial trifunctional protein deficiency, MONDO:0012172			Cardiomyopathy;HP:0001638	27604308;39088276;37754774;35677112;32999401;28515471		False	3	100;0;0	1.359	True		ENSG00000084754	ENSG00000084754	HGNC:4801													
HADHB	gene	HADHB	Expert Review Green;London South GLH;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	mitochondrial trifunctional protein deficiency, MONDO:0012172			Cardiomyopathy;HP:0001638	27604308;39088276;28515471		False	3	100;0;0	1.359	True		ENSG00000138029	ENSG00000138029	HGNC:4803													
HCN4	gene	HCN4	Expert Review Green;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sick sinus syndrome MONDO:0001823			Cardiomyopathy;HP:0001638	40613349;39698436;35893073;35328031;35257104;34540771;33185997		False	3	100;0;0	1.359	True		ENSG00000138622	ENSG00000138622	HGNC:16882													
HRAS	gene	HRAS	Expert List;Expert Review Green;London South GLH;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Costello syndrome;syndromic HCM			Cardiomyopathy;HP:0001638	16170316;16969868;16443854;21396583		False	3	100;0;0	1.359	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000174775	ENSG00000174775	HGNC:5173													
HSD17B10	gene	HSD17B10	Expert Review Green;Literature	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)	HSD10 mitochondrial disease, MIM# 300438;intellectual disability;regression;seizures;cardiomyopathy (dilated or hypertrophic);choreoathetosis;optic atrophy;retinal degeneration			Cardiomyopathy;HP:0001638	22127393;20077426		False	3	100;0;0	1.359	True		ENSG00000072506	ENSG00000072506	HGNC:4800													
IDH2	gene	IDH2	Expert Review Green;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	D-2-hydroxyglutaric aciduria 2, MIM# 613657			Cardiomyopathy;HP:0001638	24049096;20847235;37248298		False	3	100;0;0	1.359	True		ENSG00000182054	ENSG00000182054	HGNC:5383													
IDS	gene	IDS	Expert Review Green;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	mucopolysaccharidosis type 2, MONDO:0010674			Cardiomyopathy;HP:0001638	27604308;35882106;34193122;32256517;27146977		False	3	100;0;0	1.359	True		ENSG00000010404	ENSG00000010404	HGNC:5389													
IDUA	gene	IDUA	Expert Review Green;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	mucopolysaccharidosis type 1, MONDO:0001586			Cardiomyopathy;HP:0001638	27604308;41582445;35893030;27146977		False	3	100;0;0	1.359	True		ENSG00000127415	ENSG00000127415	HGNC:5391													
JUP	gene	JUP	Expert Review Green;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Arrhythmogenic right ventricular dysplasia 12, MIM# 611528;Naxos disease, MIM# 601214			Cardiomyopathy;HP:0001638			False	3	100;0;0	1.359	True		ENSG00000173801	ENSG00000173801	HGNC:6207													
KLHL24	gene	KLHL24	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	"Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies	MIM#620236;Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy, MIM#	617294"			Cardiomyopathy;HP:0001638	41823911;41258845;40176835;37191012;34740256;34688992;32870709;31649980;30715372;30120936;29779254		False	3	100;0;0	1.359	True		ENSG00000114796	ENSG00000114796	HGNC:25947													
KRAS	gene	KRAS	Expert List;Expert Review Green;London South GLH;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiofaciocutaneous syndrome 2, MIM# 615278;Noonan syndrome 3, MIM# 609942			Cardiomyopathy;HP:0001638	21396583;32078254;30732632;30430033		False	3	100;0;0	1.359	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000133703	ENSG00000133703	HGNC:6407													
LAMP2	gene	LAMP2	Expert Review Green;London South GLH;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)	Danon disease, MIM#300257			Cardiomyopathy;HP:0001638	27604308;30681346		False	3	50;0;50	1.359	True		ENSG00000005893	ENSG00000005893	HGNC:6501													
LDB3	gene	LDB3	Expert Review Green;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Cardiomyopathy, dilated, 1C, with or without LVNC, MIM# 601493;Cardiomyopathy, dilated, 2L, MIM# 621237			Cardiomyopathy;HP:0001638	36253531		False	3	100;0;0	1.359	True		ENSG00000122367	ENSG00000122367	HGNC:15710													
LETM1	gene	LETM1	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, MONDO:0859304			Cardiomyopathy;HP:0001638	36055214		False	3	100;0;0	1.359	True		ENSG00000168924	ENSG00000168924	HGNC:6556													
LMNA	gene	LMNA	Expert Review Green;London South GLH;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Cardiomyopathy, dilated, 1A, MIM# 115200;Emery-Dreifuss muscular dystrophy 2, autosomal dominant, MIM# 181350;Emery-Dreifuss muscular dystrophy 3, autosomal recessive, MIM# 616516			Cardiomyopathy;HP:0001638	15148145;18551513;15622532;39998502		False	3	100;0;0	1.359	True		ENSG00000160789	ENSG00000160789	HGNC:6636													
LMOD2	gene	LMOD2	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Dilated cardiomyopathy MONDO:0005021			Cardiomyopathy;HP:0001638	31517052;34888509;5082396;35188328;26487682		False	3	100;0;0	1.359	True		ENSG00000170807	ENSG00000170807	HGNC:6648													
LRPPRC	gene	LRPPRC	Expert Review Green;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian), MIM# 220111			Cardiomyopathy;HP:0001638	12529507;24399447;22045337;26510951		False	3	100;0;0	1.359	True		ENSG00000138095	ENSG00000138095	HGNC:15714													
LZTR1	gene	LZTR1	Expert List;Expert Review Green;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Noonan syndrome 10, MIM# 616564			Cardiomyopathy;HP:0001638	25795793;29469822;36357925;35770001;30872527;30732632;30368668		False	3	100;0;0	1.359	True		ENSG00000099949	ENSG00000099949	HGNC:6742													
MAP2K1	gene	MAP2K1	Expert List;Expert Review Green;London South GLH;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	cardiofaciocutaneous syndrome, MONDO:0015280			Cardiomyopathy;HP:0001638	23321623;21396583;37697378;36777711		False	3	100;0;0	1.359	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000169032	ENSG00000169032	HGNC:6840													
MAP2K2	gene	MAP2K2	Expert List;Expert Review Green;London South GLH;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	cardiofaciocutaneous syndrome 4, MONDO:0014114			Cardiomyopathy;HP:0001638	23379592;21396583		False	3	100;0;0	1.359	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000126934	ENSG00000126934	HGNC:6842													
MAP3K7	gene	MAP3K7	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiospondylocarpofacial syndrome MIM#157800			Cardiomyopathy;HP:0001638	35730652;40814318;40909427		False	3	100;0;0	1.359	True		ENSG00000135341	ENSG00000135341	HGNC:6859													
MED12	gene	MED12	Expert Review Green;Literature	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)	Hardikar syndrome MIM#301068			Cardiomyopathy;HP:0001638	39045790		False	3	100;0;0	1.359	True		ENSG00000184634	ENSG00000184634	HGNC:11957													
MIPEP	gene	MIPEP	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 31, MIM# 617228;cardiomyopathy;left ventricular noncompaction;seizures;hypotonia;dev delay;cataracts			Cardiomyopathy;HP:0001638	PMID: 27799064		False	3	100;0;0	1.359	True		ENSG00000027001	ENSG00000027001	HGNC:7104													
MLYCD	gene	MLYCD	Expert Review Green;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	malonic aciduria, MONDO:0009556			Cardiomyopathy;HP:0001638	27604308;12955715;7609455;9177981;39069445;37206471;37144154;34884438;32602666;31395333;28781843		False	3	100;0;0	1.359	True		ENSG00000103150	ENSG00000103150	HGNC:7150													
MMACHC	gene	MMACHC	Expert Review Green;MetBioNet;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	methylmalonic aciduria and homocystinuria type cblC, MONDO:0010184			Cardiomyopathy;HP:0001638	27604308;19248038;19767224;20632110;23430797;24599607;33562640;38745823;40830795;42231716		False	3	100;0;0	1.359	True		ENSG00000132763	ENSG00000132763	HGNC:24525													
MRAS	gene	MRAS	Expert list;Expert Review Green	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome, MIM#618499			Cardiomyopathy;HP:0001638	28289718;31173466;31108500;31173466		False	3	100;0;0	1.359	True		ENSG00000158186	ENSG00000158186	HGNC:7227													
MRPL44	gene	MRPL44	Expert Review Green;London South GLH;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 16, 615395			Cardiomyopathy;HP:0001638	23315540;25797485		False	3	100;0;0	1.359	True		ENSG00000135900	ENSG00000135900	HGNC:16650													
MRPS22	gene	MRPS22	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 5 , MIM#611719;hypertrophic or dilated cardiomyopathy;microcephaly;hypotonia;spastic tetraplegia;abnormal brain MRI			Cardiomyopathy;HP:0001638	17873122;28752220;21189481		False	3	100;0;0	1.359	True		ENSG00000175110	ENSG00000175110	HGNC:14508													
MT-ATP6	gene	MT-ATP6	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	MITOCHONDRIAL	Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related			Cardiomyopathy;HP:0001638	40367733;40112238;39119452;29101127;27453250		False	3	100;0;0	1.359	True		ENSG00000198899	ENSG00000198899	HGNC:7414													
MTO1	gene	MTO1	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 10 MIM#614702			Cardiomyopathy;HP:0001638	29331171		False	3	100;0;0	1.359	True		ENSG00000135297	ENSG00000135297	HGNC:19261													
MT-TG	gene	MT-TG	Expert list;Expert Review Green	Cardiomyopathy_Paediatric		Cardiovascular disorders	MITOCHONDRIAL	Mitochondrial disease (MONDO:0044970), MT-TG-related			Cardiomyopathy;HP:0001638	8079988;9199564;11971101;16120360;32337339;35432167;10090480		False	3	100;0;0	1.359	True		ENSG00000210164	ENSG00000210164	HGNC:7486													
MT-TI	gene	MT-TI	Expert Review Green;Literature;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	MITOCHONDRIAL	Mitochondrial disease (MONDO:0044970), MT-TI-related			Cardiomyopathy;HP:0001638	12767666;30025578;29481798;23332932		False	3	50;50;0	1.359	True		ENSG00000210100	ENSG00000210100	HGNC:7488													
MT-TR	gene	MT-TR	Expert list;Expert Review Green	Cardiomyopathy_Paediatric		Cardiovascular disorders	MITOCHONDRIAL	mitochondrial disease (MONDO:0044970), MT-TR-related			Cardiomyopathy;HP:0001638	15286228;17588757;19809478;22781096		False	3	100;0;0	1.359	True		ENSG00000210174	ENSG00000210174	HGNC:7496													
MT-TS2	gene	MT-TS2	Expert list;Expert Review Green	Cardiomyopathy_Paediatric		Cardiovascular disorders	MITOCHONDRIAL	Mitochondrial disease (MONDO:0044970), MT-TS2-related			Cardiomyopathy;HP:0001638	9792552;10090882;16950817;21257182;22369973;22378285		False	3	100;0;0	1.359	True		ENSG00000210184	ENSG00000210184	HGNC:7498													
MT-TV	gene	MT-TV	Expert list;Expert Review Green	Cardiomyopathy_Paediatric		Cardiovascular disorders	MITOCHONDRIAL	Mitochondrial disease (MONDO:0044970), MT-TV-related			Cardiomyopathy;HP:0001638	9450773;12056939;19252805;15320572;18314141;24691472;39468830		False	3	100;0;0	1.359	True		ENSG00000210077	ENSG00000210077	HGNC:7500													
MT-TW	gene	MT-TW	Expert list;Expert Review Green	Cardiomyopathy_Paediatric		Cardiovascular disorders	MITOCHONDRIAL	Mitochondrial disease (MONDO:0044970), MT-TW-related			Cardiomyopathy;HP:0001638	7695240;9266739;9673981;12776230;15054399;18337306;19809478;26524491;23841600;30937556		False	3	100;0;0	1.359	True		ENSG00000210117	ENSG00000210117	HGNC:7501													
MYBPC3	gene	MYBPC3	Expert Review Green;London South GLH;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Cardiomyopathy, hypertrophic, 4, MIM# 115197			Cardiomyopathy;HP:0001638	20378854;30681346;41572441		False	3	100;0;0	1.359	True		ENSG00000134571	ENSG00000134571	HGNC:7551													
MYH7	gene	MYH7	Expert Review Green;London South GLH;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, hypertrophic, 1, MIM# 192600;Cardiomyopathy, dilated, 1S, MIM# 613426			Cardiomyopathy;HP:0001638	30681346;41380733		False	3	100;0;0	1.359	True		ENSG00000092054	ENSG00000092054	HGNC:7577													
MYL2	gene	MYL2	Expert Review Green;London South GLH;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, MIM# 619424;Cardiomyopathy, hypertrophic, 10, MIM# 608758			Cardiomyopathy;HP:0001638	23365102;27378946;32453731;33731536		False	3	100;0;0	1.359	True		ENSG00000111245	ENSG00000111245	HGNC:7583													
MYL3	gene	MYL3	Expert Review Green;London South GLH;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, hypertrophic, 8, MIM# 608751			Cardiomyopathy;HP:0001638	30681346;37477868		False	3	100;0;0	1.359	True		ENSG00000160808	ENSG00000160808	HGNC:7584													
NAA10	gene	NAA10	Expert Review Green;Literature	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)	NAA10-related syndrome, MONDO:0100124			Cardiomyopathy;HP:0001638	40304357;40234403;38335407;37441566;37130971;33335012;32864149		False	3	100;0;0	1.359	True		ENSG00000102030	ENSG00000102030	HGNC:18704													
NAGLU	gene	NAGLU	Expert Review Green;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920			Cardiomyopathy;HP:0001638	27604308;37239976		False	3	100;0;0	1.359	True		ENSG00000108784	ENSG00000108784	HGNC:7632													
NDUFA10	gene	NDUFA10	Expert Review Green;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex I deficiency, nuclear type 22, MIM# 618243			Cardiomyopathy;HP:0001638	21150889		False	3	100;0;0	1.359	True		ENSG00000130414	ENSG00000130414	HGNC:7684													
NDUFAF1	gene	NDUFAF1	Expert Review Green;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	mitochondrial complex I deficiency, nuclear type 11, MONDO:0032617			Cardiomyopathy;HP:0001638	39821332;21931170;17557076		False	3	100;0;0	1.359	True		ENSG00000137806	ENSG00000137806	HGNC:18828													
NDUFB11	gene	NDUFB11	Expert Review Green;MetBioNet;NHS GMS	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)	Linear skin defects with multiple congenital anomalies 3, 300952;?Mitochondrial complex I deficiency, nuclear type 30, 301021			Cardiomyopathy;HP:0001638	28050600;27488349;30423443;27488349		False	3	100;0;0	1.359	True		ENSG00000147123	ENSG00000147123	HGNC:20372													
NDUFS2	gene	NDUFS2	Expert Review Green;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	mitochondrial complex I deficiency, nuclear type 6, MONDO:0032611			Cardiomyopathy;HP:0001638	36462614;22036843		False	3	100;0;0	1.359	True		ENSG00000158864	ENSG00000158864	HGNC:7708													
NDUFS4	gene	NDUFS4	Expert Review Green;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex I deficiency, nuclear type 1, MIM#252010			Cardiomyopathy;HP:0001638	29101127;22326555		False	3	100;0;0	1.359	True		ENSG00000164258	ENSG00000164258	HGNC:7711													
NDUFS8	gene	NDUFS8	Expert Review Green;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	mitochondrial complex I deficiency, nuclear type 2, MONDO:0032606			Cardiomyopathy;HP:0001638	38229652;36462614;9837812		False	3	100;0;0	1.359	True		ENSG00000110717	ENSG00000110717	HGNC:7715													
NDUFV1	gene	NDUFV1	Expert Review Green;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex I deficiency, nuclear type 4 MIM#618225			Cardiomyopathy;HP:0001638	41140551;39525154;35482246		False	3	100;0;0	1.359	True		ENSG00000167792	ENSG00000167792	HGNC:7716													
NDUFV2	gene	NDUFV2	Expert Review Green;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex I deficiency, nuclear type 7, MIM#618229			Cardiomyopathy;HP:0001638	12754703;19167255;26008862		False	3	100;0;0	1.359	True		ENSG00000178127	ENSG00000178127	HGNC:7717													
NEXN	gene	NEXN	Expert Review Green;London South GLH;NHS GMS;South West GLH;Victorian Clinical Genetics Services	Cardiomyopathy_Paediatric		Cardiovascular disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Cardiomyopathy, dilated, 2M, autosomal recessive, MIM# 621261;Cardiomyopathy, familial hypertrophic, 20,;Cardiomyopathy, dilated, 1CC			Cardiomyopathy;HP:0001638			False	3	0;0;100	1.359	True		ENSG00000162614	ENSG00000162614	HGNC:29557													
NKX2-5	gene	NKX2-5	Expert Review Green;London South GLH;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	NKX2.5-related congenital, conduction and myopathic heart disease, MONDO:0800441			Cardiomyopathy;HP:0001638	36357925;35683556;34277740;33082984;27855642;27855642;26913919		False	3	100;0;0	1.359	True		ENSG00000183072	ENSG00000183072	HGNC:2488													
NONO	gene	NONO	Expert Review Green;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	syndromic X-linked intellectual disability 34, MONDO:0010501			Cardiomyopathy;HP:0001638	41727761;41705901;41213470;39709004;38469091;38110236;37533431;36653413;36426740;34549882;33304389;31883306;30773818;27550220;27329731		False	3	100;0;0	1.359	True		ENSG00000147140	ENSG00000147140	HGNC:7871													
NRAP	gene	NRAP	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Cardiomopathy, dilated, 2N, MIM# 621595			Cardiomyopathy;HP:0001638	33534821;30384889;28611399;32870709		False	3	100;0;0	1.359	True		ENSG00000197893	ENSG00000197893	HGNC:7988													
NRAS	gene	NRAS	Expert List;Expert Review Green;London South GLH;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome 6, MIM# 613224			Cardiomyopathy;HP:0001638	19775298;19966803		False	3	100;0;0	1.359	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000213281	ENSG00000213281	HGNC:7989													
PCCA	gene	PCCA	Expert Review Green;MetBioNet;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	propionic acidemia, MONDO:0011628			Cardiomyopathy;HP:0001638	27604308;40172673;39975893;36395710		False	3	100;0;0	1.359	True		ENSG00000175198	ENSG00000175198	HGNC:8653													
PCCB	gene	PCCB	Expert Review Green;MetBioNet;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	propionic acidemia, MONDO:0011628			Cardiomyopathy;HP:0001638	27604308;37529955;36768524;36393899;34203287		False	3	100;0;0	1.359	True		ENSG00000114054	ENSG00000114054	HGNC:8654													
PGM1	gene	PGM1	Expert Review;Expert Review Green	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	"Congenital disorder of glycosylation, type It, MIM#	614921;Dilated cardiomyopathy"			Cardiomyopathy;HP:0001638	31563034;26303607;24878975;27206562;29858906;32681750		False	3	100;0;0	1.359	True		ENSG00000079739	ENSG00000079739	HGNC:8905													
PKP2	gene	PKP2	Expert Review Green;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Dilated cardiomyopathy, MONDO:0005021, PKP2-related;Arrhythmogenic right ventricular dysplasia 9;Arrhythmogenic right ventricular cardiomyopathy			Cardiomyopathy;HP:0001638			False	3	100;0;0	1.359	True		ENSG00000057294	ENSG00000057294	HGNC:9024													
PLD1	gene	PLD1	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Cardiac valvular defect, developmental, MIM# 212093;neonatal cardiomyopathy			Cardiomyopathy;HP:0001638	27799408;33645542		False	3	100;0;0	1.359	True		ENSG00000075651	ENSG00000075651	HGNC:9067													
PLN	gene	PLN	Expert Review Green;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, dilated, 1P, MIM# 609909;Cardiomyopathy, hypertrophic, 18, MIM# 613874			Cardiomyopathy;HP:0001638	30681346		False	3	50;50;0	1.359	True		ENSG00000198523	ENSG00000198523	HGNC:9080													
PMM2	gene	PMM2	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	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			Cardiomyopathy;HP:0001638	28954837;33388235		False	3	50;0;50	1.359	True		ENSG00000140650	ENSG00000140650	HGNC:9115													
PPA2	gene	PPA2	Expert Review Green;London South GLH;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Sudden cardiac failure, alcohol-induced, 617223;Sudden cardiac failure, infantile, 617222			Cardiomyopathy;HP:0001638	27523598;34400813		False	3	100;0;0	1.359	True		ENSG00000138777	ENSG00000138777	HGNC:28883													
PPCS	gene	PPCS	Expert Review Green;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Cardiomyopathy, dilated, 2C,  618189			Cardiomyopathy;HP:0001638			False	3	100;0;0	1.359	True		ENSG00000127125	ENSG00000127125	HGNC:25686													
PPP1R13L	gene	PPP1R13L	Expert Review Green;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519			Cardiomyopathy;HP:0001638	25691752;19016676;28069640;15661756;28864777;32666529		False	3	100;0;0	1.359	True		ENSG00000104881	ENSG00000104881	HGNC:18838													
PRDM16	gene	PRDM16	Expert Review;Expert Review Green	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, dilated, 1LL MIM#615373;Left ventricular noncompaction 8 MIM#615373			Cardiomyopathy;HP:0001638	29367541;29447731;30847666;33082984;32183154;33500567;34540771;34350506;34935411		False	3	100;0;0	1.359	True		ENSG00000142611	ENSG00000142611	HGNC:14000													
PRKAG2	gene	PRKAG2	Expert Review Green;London South GLHSouth West GLH;NHS GMS;Victorian Clinical Genetics Services	Cardiomyopathy_Paediatric		Cardiovascular disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Cardiomyopathy, hypertrophic 6, MIM# 600858;Glycogen storage disease of heart, lethal congenital, MIM# 261740			Cardiomyopathy;HP:0001638	37013823;15877279;17667862;32646569;30681346		False	3	50;0;50	1.359	True		ENSG00000106617	ENSG00000106617	HGNC:9386													
PTPN11	gene	PTPN11	Expert List;Expert Review Green;London South GLH;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome 1, MIM# 163950			Cardiomyopathy;HP:0001638	16263833;12634870;18678287;15384080;15240615;11704759;17603483;17497712;12529711		False	3	50;0;50	1.359	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000179295	ENSG00000179295	HGNC:9644													
QRSL1	gene	QRSL1	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 40, MIM#618835			Cardiomyopathy;HP:0001638	35894854;30283131;29440775		False	3	100;0;0	1.359	True		ENSG00000130348	ENSG00000130348	HGNC:21020													
RAF1	gene	RAF1	Expert List;Expert Review Green;London South GLH;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, dilated, 1NN, MIM# 615916;Noonan syndrome 5, MIM# 611553			Cardiomyopathy;HP:0001638	17603482;17603483;24777450		False	3	50;0;50	1.359	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000132155	ENSG00000132155	HGNC:9829													
RBCK1	gene	RBCK1	Expert Review Green;Other	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal				Cardiomyopathy;HP:0001638	7971833;23889995;23798481		False	3	100;0;0	1.359	True		ENSG00000125826	ENSG00000125826	HGNC:15864													
RBM10	gene	RBM10	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	TARP syndrome, MONDO:0010711			Cardiomyopathy;HP:0001638	30450804		False	3	100;0;0	1.359	True		ENSG00000182872	ENSG00000182872	HGNC:9896													
RBM20	gene	RBM20	Expert Review Green;London South GLH;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, dilated, 1DD, MIM#613172			Cardiomyopathy;HP:0001638	41175027;40399739;40339755;37593875;35893073;34540771;34011823;33302605;32969603;29367541;26458567		False	3	100;0;0	1.359	True		ENSG00000203867	ENSG00000203867	HGNC:27424													
RIT1	gene	RIT1	Expert List;Expert Review Green;London South GLH;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome 8, MONDO:0014143			Cardiomyopathy;HP:0001638	23791108;24939608;25124994;34887308;33686258;30732632		False	3	100;0;0	1.359	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000143622	ENSG00000143622	HGNC:10023													
RNF220	gene	RNF220	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	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			Cardiomyopathy;HP:0001638	33964137;10881263		False	3	100;0;0	1.359	True		ENSG00000187147	ENSG00000187147	HGNC:25552													
RPL3L	gene	RPL3L	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Cardiomyopathy, dilated, 2D, MIM# 619371;Neonatal dilated cardiomyopathy			Cardiomyopathy;HP:0001638	32514796;32870709		False	3	100;0;0	1.359	True		ENSG00000140986	ENSG00000140986	HGNC:10351													
RRAGC	gene	RRAGC	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Long-Olsen syndrome, MIM# 620609			Cardiomyopathy;HP:0001638	PMID: 29367541;27234373;33057194;37057673		False	3	33;33;33	1.359	True	Other	ENSG00000116954	ENSG00000116954	HGNC:19902													
RRAGD	gene	RRAGD	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Inherited renal tubular disease, MONDO:0015962, RRAGD-related;dilated cardiomyopathy;hypomagnesaemia;renal salt-wasting;nephrocalcinosis			Cardiomyopathy;HP:0001638	34607910		False	3	100;0;0	1.359	True		ENSG00000025039	ENSG00000025039	HGNC:19903													
SCN5A	gene	SCN5A	Expert Review Green;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	dilated cardiomyopathy 1E MONDO:0011003;arrhythmogenic right ventricular cardiomyopathy, MONDO:0016587			Cardiomyopathy;HP:0001638	39133258;38731905;38352122;36166435;34884792;31930659;31024045		False	3	100;0;0	1.359	True		ENSG00000183873	ENSG00000183873	HGNC:10593													
SCO2	gene	SCO2	Expert Review Green;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, MONDO:0011451			Cardiomyopathy;HP:0001638	27604308;29193756;25720770		False	3	100;0;0	1.359	True		-	ENSG00000284194	HGNC:10604													
SDHA	gene	SDHA	Expert Review Green;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex II deficiency, nuclear type 1, MIM# 252011;Cardiomyopathy, dilated, 1GG, MIM# 613642			Cardiomyopathy;HP:0001638	27604308;20551992		False	3	100;0;0	1.359	True		ENSG00000073578	ENSG00000073578	HGNC:10680													
SGCD	gene	SGCD	Expert Review Green;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287			Cardiomyopathy;HP:0001638	10735275;18779423;23900355;34515763		False	3	100;0;0	1.359	True		ENSG00000170624	ENSG00000170624	HGNC:10807													
SHMT2	gene	SHMT2	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	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			Cardiomyopathy;HP:0001638	33015733		False	3	100;0;0	1.359	True		ENSG00000182199	ENSG00000182199	HGNC:10852													
SHOC2	gene	SHOC2	Expert List;Expert Review Green;London South GLH;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome-like disorder with loose anagen hair, MONDO:0011899			Cardiomyopathy;HP:0001638	23918763;19684605;22528146		False	3	100;0;0	1.359	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000108061	ENSG00000108061	HGNC:15454													
SLC22A5	gene	SLC22A5	Expert Review Green;MetBioNet;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Carnitine deficiency, systemic primary MIM#212140			Cardiomyopathy;HP:0001638	24816252;27604308;22989098;18337137;27807682		False	3	100;0;0	1.359	True		ENSG00000197375	ENSG00000197375	HGNC:10969													
SLC25A20	gene	SLC25A20	Expert Review Green;MetBioNet;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	carnitine-acylcarnitine translocase deficiency, MONDO:0008918			Cardiomyopathy;HP:0001638	27604308;36419912;35360862;34626609;33634872		False	3	100;0;0	1.359	True		ENSG00000178537	ENSG00000178537	HGNC:1421													
SLC25A4	gene	SLC25A4	Expert Review Green;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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			Cardiomyopathy;HP:0001638	27604308		False	3	50;0;50	1.359	True		ENSG00000151729	ENSG00000151729	HGNC:10990													
SMAD4	gene	SMAD4	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Myhre syndrome, MONDO:0007688			Cardiomyopathy;HP:0001638	37529930;34236823;27302097;26420300		False	3	100;0;0	1.359	True		ENSG00000141646	ENSG00000141646	HGNC:6770													
SOS1	gene	SOS1	Expert List;Expert Review Green;London South GLH;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome 4, MIM# 610733			Cardiomyopathy;HP:0001638	19438935;17143285;17143282;17586837		False	3	100;0;0	1.359	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000115904	ENSG00000115904	HGNC:11187													
SPEG	gene	SPEG	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Dilated cardiomyopathy;centronuclear myopathy			Cardiomyopathy;HP:0001638	32925938;33794647		False	3	100;0;0	1.359	True		ENSG00000072195	ENSG00000072195	HGNC:16901													
SUCLG1	gene	SUCLG1	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	mitochondrial DNA depletion syndrome 9, MONDO:0009504			Cardiomyopathy;HP:0001638	26475597		False	3	100;0;0	1.359	True		ENSG00000163541	ENSG00000163541	HGNC:11449													
TAB2	gene	TAB2	Expert Review Green;London South GLH;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like;Congenital heart defects, nonsyndromic, 2 (MIM#614980)			Cardiomyopathy;HP:0001638	34456334		False	3	100;0;0	1.359	True		ENSG00000055208	ENSG00000055208	HGNC:17075													
TAFAZZIN	gene	TAFAZZIN	Expert Review Green;London South GLH;MetBioNet;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Barth syndrome, MIM# 302060			Cardiomyopathy;HP:0001638	27604308;20812380		False	3	100;0;0	1.359	True		ENSG00000102125	ENSG00000102125	HGNC:11577													
TANGO2	gene	TANGO2	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration MIM#616878			Cardiomyopathy;HP:0001638	40156300;35568137		False	3	100;0;0	1.359	True		ENSG00000183597	ENSG00000183597	HGNC:25439													
TBX20	gene	TBX20	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Dilated cardiomyopathy, MONDO:0005021, TBX20-related			Cardiomyopathy;HP:0001638	26118961;17668378;27510170;35282022;37657916		False	3	100;0;0	1.359	True		ENSG00000164532	ENSG00000164532	HGNC:11598													
TBX5	gene	TBX5	Expert Review;Expert Review Green	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Holt-Oram syndrome, MIM# 142900;Dilated cardiomyopathy			Cardiomyopathy;HP:0001638	32449309;32236096;25963046;25725155		False	3	100;0;0	1.359	True		ENSG00000089225	ENSG00000089225	HGNC:11604													
TMEM126B	gene	TMEM126B	Expert Review Green;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex I deficiency, nuclear type 29, MIM# 618250			Cardiomyopathy;HP:0001638	27374773;27374774		False	3	100;0;0	1.359	True		ENSG00000171204	ENSG00000171204	HGNC:30883													
TMEM43	gene	TMEM43	Expert Review Green;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Arrhythmogenic right ventricular dysplasia 5, MIM#604400			Cardiomyopathy;HP:0001638	18313022;26840987		False	3	100;0;0	1.359	True		ENSG00000170876	ENSG00000170876	HGNC:28472													
TMEM70	gene	TMEM70	Expert Review Green;MetBioNet;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MONDO:0013546			Cardiomyopathy;HP:0001638	20335238;26550569;27649480;30899493;30950220;31729175;36751706		False	3	100;0;0	1.359	True		ENSG00000175606	ENSG00000175606	HGNC:26050													
TNNC1	gene	TNNC1	Expert Review Green;London South GLH;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, dilated, 1Z, MIM# 611879;Cardiomyopathy, hypertrophic, 13, MIM# 613243			Cardiomyopathy;HP:0001638	30681346;11385718;8572189;21262074;22815480;26779504		False	3	50;50;0	1.359	True		ENSG00000114854	ENSG00000114854	HGNC:11943													
TNNI3	gene	TNNI3	Expert Review Green;London South GLH;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Cardiomyopathy, dilated, 1FF, MIM#613286 Cardiomyopathy, hypertrophic, 7, MIM# 613690 Cardiomyopathy, familial restrictive, MIM#1115210			Cardiomyopathy;HP:0001638	35838873;41918167;30681346		False	3	100;0;0	1.359	True		ENSG00000129991	ENSG00000129991	HGNC:11947													
TNNI3K	gene	TNNI3K	Expert Review Green;NHS GMS	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	cardiac conduction disease with or without dilated cardiomyopathy 1, MONDO:0700388			Cardiomyopathy;HP:0001638	40904527;40037387;39272661;37199186;35274013		False	3	100;0;0	1.359	True		ENSG00000116783	ENSG00000116783	HGNC:19661													
TNNT2	gene	TNNT2	Expert Review Green;London South GLH;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, dilated, 1D MIM#601494;Cardiomyopathy, hypertrophic, 2, MIM# 115195			Cardiomyopathy;HP:0001638	30681346;11106718		False	3	100;0;0	1.359	True		ENSG00000118194	ENSG00000118194	HGNC:11949													
TOR1AIP1	gene	TOR1AIP1	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072;Autosomal recessive limb-girdle muscular dystrophy type 2Y, MONDO:0014900			Cardiomyopathy;HP:0001638	24856141;27342937;32055997;25425325		False	3	100;0;0	1.359	True		ENSG00000143337	ENSG00000143337	HGNC:29456													
TPM1	gene	TPM1	Expert Review Green;London South GLH;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, dilated, 1Y, MIM# 611878			Cardiomyopathy;HP:0001638	31270709;30681346		False	3	100;0;0	1.359	True		ENSG00000140416	ENSG00000140416	HGNC:12010													
TREX1	gene	TREX1	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Aicardi-Goutieres syndrome 1, dominant and recessive MIM#225750			Cardiomyopathy;HP:0001638	25604658;36581356		False	3	100;0;0	1.359	True		ENSG00000213689	ENSG00000213689	HGNC:12269													
TRIM37	gene	TRIM37	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	mulibrey nanism, MONDO:0009664			Cardiomyopathy;HP:0001638	41702694;38116000;36742244		False	3	100;0;0	1.359	True		ENSG00000108395	ENSG00000108395	HGNC:7523													
TSFM	gene	TSFM	Expert Review Green;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 3, MIM# 610505			Cardiomyopathy;HP:0001638	27604308;35071363;31451716;31267352;27677415;25037205;21741925;17033963		False	3	100;0;0	1.359	True		ENSG00000123297	ENSG00000123297	HGNC:12367													
TTN	gene	TTN	ClinGen;Expert Review Green	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Dilated cardiomyopathy 1G, MONDO:0011400;Hypertrophic cardiomyopathy, MONDO:0005045			Cardiomyopathy;HP:0001638	27625337;31628103;22335739		False	3	50;50;0	1.359	True		ENSG00000155657	ENSG00000155657	HGNC:12403													
TTR	gene	TTR	Expert Review Green;NHS GMS;South West GLH	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Amyloidosis, hereditary systemic 1, MIM# 105210			Cardiomyopathy;HP:0001638	31118583;31131842;31111153;30878017;30120737;28475415;31554435		False	3	50;50;0	1.359	True		ENSG00000118271	ENSG00000118271	HGNC:12405													
UQCRFS1	gene	UQCRFS1	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex III deficiency, nuclear type 10, MIM# 618775;cardiomyopathy;thrombocytopenia;hypotonia			Cardiomyopathy;HP:0001638	PMID: 31883641		False	3	50;50;0	1.359	True		ENSG00000169021	ENSG00000169021	HGNC:12587													
VARS2	gene	VARS2	Expert Review Green;Literature	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	combined oxidative phosphorylation defect type 20, MONDO:0014397			Cardiomyopathy;HP:0001638	40563223;33937156;31623496;30458719;29314548;27502409		False	3	100;0;0	1.359	True		ENSG00000137411	ENSG00000137411	HGNC:21642													
VCL	gene	VCL	Expert Review Green;NHS GMS;South West GLH;Victorian Clinical Genetics Services	Cardiomyopathy_Paediatric		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, dilated, 1W, MIM# 611407			Cardiomyopathy;HP:0001638	17097056;32516855;30681346		False	3	50;0;50	1.359	True		ENSG00000035403	ENSG00000035403	HGNC:12665													
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													
FXN_FRDA_GAA	str	FXN	Expert Review Green;Expert list;Expert list;Expert list;Expert list	Cardiomyopathy_Paediatric		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Friedreich ataxia MIM#229300			Cardiomyopathy;HP:0001638	20301458;8596916		False	3	100;0;0	1.359	True		ENSG00000165060	ENSG00000165060	HGNC:3951	9	71652203	71652220	69037287	69037304	GAA	33	66