Cardiomyopathy_Adult_SuperPanel (Version 2.5)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 131 Entitiess
Green List (high evidence)	ACTC1 Hypertrophic cardiomyopathy_HCM v1.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, hypertrophic, 11 612098 Tags
Green List (high evidence)	ACTC1 Dilated Cardiomyopathy v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1R, MIM# 613424 Tags for review
Green List (high evidence)	ACTN2 Hypertrophic cardiomyopathy_HCM v1.0	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, hypertrophic, 23, with or without LVNC, MIM# 612158 Tags
Green List (high evidence)	ACTN2 Dilated Cardiomyopathy v1.37	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Cardiomyopathy, dilated, 1AA, with or without LVNC, MIM# 612158 Tags
Green List (high evidence)	ALPK3 Dilated Cardiomyopathy v1.37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, familial hypertrophic 27, MIM# 618052 Tags
Green List (high evidence)	ALPK3 Hypertrophic cardiomyopathy_HCM v1.0	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, familial hypertrophic 27, MIM# 618052 Tags
Green List (high evidence)	BAG3 Dilated Cardiomyopathy v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1HH, MIM# 613881 MONDO:0013479 Tags
Green List (high evidence)	BAG5 Dilated Cardiomyopathy v1.37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cardiomyopathy, dilated, 2F, MIM# 619747 Tags
Green List (high evidence)	C10orf71 Dilated Cardiomyopathy v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Phenotypes dilated cardiomyopathy MONDO:0005021 Tags
Green List (high evidence)	CACNA1C Hypertrophic cardiomyopathy_HCM v1.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Hypertrophic cardiomyopathy, MONDO:0005045, CACNA1C-related Tags
Green List (high evidence)	CAP2 Dilated Cardiomyopathy v1.37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cardiomyopathy, dilated, 2I (MIM#620462) Tags
Green List (high evidence)	CSRP3 Hypertrophic cardiomyopathy_HCM v1.0	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, hypertrophic, 12, MIM# 612124 Tags
Green List (high evidence)	DES Hypertrophic cardiomyopathy_HCM v1.0	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Desminopathy Tags
Green List (high evidence)	DES Arrhythmogenic Cardiomyopathy v0.68	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Cardiomyopathy, dilated, 1I, MIM# 604765 Myopathy, myofibrillar, 1 , MIM#601419 Arrhythmogenic right ventricular cardiomyopathy Tags for review
Green List (high evidence)	DES Dilated Cardiomyopathy v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1I, MIM# 604765 MONDO:0011482 Tags
Green List (high evidence)	DMD Dilated Cardiomyopathy v1.37	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 3B (MIM#302045) Tags
Green List (high evidence)	DSC2 Arrhythmogenic Cardiomyopathy v0.68	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arrhythmogenic right ventricular dysplasia 11, MIM# 610476 Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476 Tags
Green List (high evidence)	DSG2 Arrhythmogenic Cardiomyopathy v0.68	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arrhythmogenic right ventricular dysplasia 10, MIM# 610193 Tags
Green List (high evidence)	DSP Dilated Cardiomyopathy v1.37	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821 Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676 Tags
Green List (high evidence)	DSP Arrhythmogenic Cardiomyopathy v0.68	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arrhythmogenic right ventricular dysplasia 8, MIM# 607450 Carvajal syndrome Tags
Green List (high evidence)	FHL1 Hypertrophic cardiomyopathy_HCM v1.0	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Emery-Dreifuss muscular dystrophy 6, X-linked, MIM# 300696 Tags
Green List (high evidence)	FHOD3 Hypertrophic cardiomyopathy_HCM v1.0	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Cardiomyopathy, familial hypertrophic, 28, MIM# 619402 Tags SV/CNV
Green List (high evidence)	FKRP Dilated Cardiomyopathy v1.37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155 Tags
Green List (high evidence)	FLNC Hypertrophic cardiomyopathy_HCM v1.0	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Cardiomyopathy, familial hypertrophic, 26 Tags
Green List (high evidence)	FLNC Arrhythmogenic Cardiomyopathy v0.68	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Arrhythmogenic right ventricular cardiomyopathy Tags
Green List (high evidence)	FLNC Dilated Cardiomyopathy v1.37	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Dilated cardiomyopathy Tags
Green List (high evidence)	GLA Hypertrophic cardiomyopathy_HCM v1.0	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fabry disease (MIM# 301500) Tags
Green List (high evidence)	JUP Arrhythmogenic Cardiomyopathy v0.68	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arrhythmogenic right ventricular dysplasia 12 MIM# 611528 Naxos disease MIM# 601214 Tags
Green List (high evidence)	KLHL24 Hypertrophic cardiomyopathy_HCM v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MIM# 620236 Tags
Green List (high evidence)	LAMP2 Dilated Cardiomyopathy v1.37	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Danon disease, MIM#300257 Tags
Green List (high evidence)	LAMP2 Hypertrophic cardiomyopathy_HCM v1.0	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Danon disease (MIM#300257) Tags
Green List (high evidence)	LMNA Dilated Cardiomyopathy v1.37	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1A, MIM# 115200 Tags
Green List (high evidence)	MT-TI Hypertrophic cardiomyopathy_HCM v1.0	2 reviews	MITOCHONDRIAL	Sources Expert Review Green Literature Phenotypes Hypertrophic cardiomyopathy Tags mtDNA
Green List (high evidence)	MYBPC3 Hypertrophic cardiomyopathy_HCM v1.0	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1MM, 615396 Cardiomyopathy, hypertrophic, 4, 115197 Left ventricular noncompaction 10, 615396 Tags
Green List (high evidence)	MYH7 Hypertrophic cardiomyopathy_HCM v1.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, hypertrophic, 1, MIM# 192600 Tags
Green List (high evidence)	MYH7 Dilated Cardiomyopathy v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1S, MIM# 613426 MONDO:0013262 Tags
Green List (high evidence)	MYL2 Hypertrophic cardiomyopathy_HCM v1.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, hypertrophic, 10, MIM# 608758 Tags
Green List (high evidence)	MYL3 Hypertrophic cardiomyopathy_HCM v1.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, hypertrophic, 8, MIM# 608751 Tags
Green List (high evidence)	MYZAP Dilated Cardiomyopathy v1.37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cardiomyopathy, dilated, 2K, MIM# 620894 Tags
Green List (high evidence)	NEXN Dilated Cardiomyopathy v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1CC, MIM# 613122 Tags for review
Green List (high evidence)	NKX2-5 Dilated Cardiomyopathy v1.37	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Dilated cardiomyopathy Tags
Green List (high evidence)	PKP2 Dilated Cardiomyopathy v1.37	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Arrhythmogenic right ventricular dysplasia 9 (MIM#609040) Dilated cardiomyopathy, MONDO:0005021, PKP2-related hypoplastic left heart syndrome hydrops fetalis ventricular septal defect left ventricular non-compaction Tags
Green List (high evidence)	PKP2 Arrhythmogenic Cardiomyopathy v0.68	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arrhythmogenic right ventricular dysplasia 9, MIM# 609040 Tags
Green List (high evidence)	PLN Dilated Cardiomyopathy v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1P, MIM# 609909 Tags
Green List (high evidence)	PLN Hypertrophic cardiomyopathy_HCM v1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, hypertrophic, 18 (MIM #613874) Tags
Green List (high evidence)	PRDM16 Dilated Cardiomyopathy v1.37	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Cardiomyopathy, dilated, 1LL MIM#615373 Left ventricular noncompaction 8 MIM#615373 Tags SV/CNV
Green List (high evidence)	PRKAG2 Hypertrophic cardiomyopathy_HCM v1.0	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, hypertrophic 6, MIM# 600858 Tags
Green List (high evidence)	PTPN11 Hypertrophic cardiomyopathy_HCM v1.0	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Noonan syndrome 1 MIM# 163950 Tags
Green List (high evidence)	RAF1 Hypertrophic cardiomyopathy_HCM v1.0	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1NN MIM#615916 Noonan syndrome 5 MIM#611553 Tags
Green List (high evidence)	RBM20 Dilated Cardiomyopathy v1.37	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1DD 613172 AD Tags
Green List (high evidence)	RIT1 Hypertrophic cardiomyopathy_HCM v1.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green ClinGen Phenotypes Noonan syndrome MONDO:0018997 Tags
Green List (high evidence)	SCN5A Dilated Cardiomyopathy v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1E, MIM# 601154 Tags
Green List (high evidence)	TBX20 Dilated Cardiomyopathy v1.37	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Dilated cardiomyopathy, MONDO:0005021, TBX20-related Tags
Green List (high evidence)	TBX5 Dilated Cardiomyopathy v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Holt-Oram syndrome, MIM# 142900 Dilated cardiomyopathy Tags
Green List (high evidence)	TMEM43 Arrhythmogenic Cardiomyopathy v0.68	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arrhythmogenic right ventricular dysplasia 5, MIM# 604400 Tags founder
Green List (high evidence)	TNNC1 Hypertrophic cardiomyopathy_HCM v1.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, hypertrophic, 13 (MIM# 613243) Tags
Green List (high evidence)	TNNC1 Dilated Cardiomyopathy v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1Z, MIM# 611879 MONDO:0012745 Tags
Green List (high evidence)	TNNI3 Dilated Cardiomyopathy v1.37	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1FF, MIM#613286 Tags for review
Green List (high evidence)	TNNI3 Hypertrophic cardiomyopathy_HCM v1.0	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, hypertrophic, 7, MIM# 613690 Tags
Green List (high evidence)	TNNI3K Dilated Cardiomyopathy v1.37	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Cardiac conduction disease with or without dilated cardiomyopathy, MIM# 616117 Tags
Green List (high evidence)	TNNT2 Dilated Cardiomyopathy v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1D, MIM# 601494 Tags
Green List (high evidence)	TNNT2 Hypertrophic cardiomyopathy_HCM v1.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, hypertrophic, 2, MIM# 115195 Tags
Green List (high evidence)	TPM1 Hypertrophic cardiomyopathy_HCM v1.0	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1Y, 611878 Cardiomyopathy, hypertrophic, 3, 115196 Left ventricular noncompaction 9, 611878 Tags
Green List (high evidence)	TPM1 Dilated Cardiomyopathy v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1Y, MIM# 611878 Tags for review
Green List (high evidence)	TRIM63 Hypertrophic cardiomyopathy_HCM v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hypertrophic cardiomyopathy, MONDO:0005045 Tags
Green List (high evidence)	TTN Dilated Cardiomyopathy v1.37	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1G, MIM#604145 Tags
Green List (high evidence)	TTR Hypertrophic cardiomyopathy_HCM v1.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Amyloidosis, hereditary, transthyretin-related MIM#105210 Tags treatable
Green List (high evidence)	VCL Dilated Cardiomyopathy v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1W, MIM# 611407 Tags
Amber List (moderate evidence)	CDH2 Arrhythmogenic Cardiomyopathy v0.68	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Arrhythmogenic right ventricular dysplasia, familial, 14, OMIM#618920 Tags
Amber List (moderate evidence)	CTNNA3 Arrhythmogenic Cardiomyopathy v0.68	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Phenotypes Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular dysplasia, familial, 13 MIM#615616 Tags
Amber List (moderate evidence)	DOLK Dilated Cardiomyopathy v1.37	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital disorder of glycosylation, type Im MIM#610768 Tags
Amber List (moderate evidence)	DSG2 Dilated Cardiomyopathy v1.37	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Arrhythmogenic right ventricular dysplasia, 10, 610193 Cardiomyopathy, dilated, 1BB, 612877 Tags
Amber List (moderate evidence)	EMD Dilated Cardiomyopathy v1.37	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300 Tags
Amber List (moderate evidence)	FKTN Dilated Cardiomyopathy v1.37	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cardiomyopathy, dilated, 1X MIM#611615 Tags SV/CNV
Amber List (moderate evidence)	GATA6 Dilated Cardiomyopathy v1.37	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Dilated cardiomyopathy Tags
Amber List (moderate evidence)	GYG1 Hypertrophic cardiomyopathy_HCM v1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Hypertrophic Cardiomyopathy Tags
Amber List (moderate evidence)	JPH2 Hypertrophic cardiomyopathy_HCM v1.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, hypertrophic, MIM#613873 Tags
Amber List (moderate evidence)	JPH2 Dilated Cardiomyopathy v1.37	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cardiomyopathy, dilated, 2E, MIM# 619492 Tags founder
Amber List (moderate evidence)	JUP Dilated Cardiomyopathy v1.37	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Arrhythmogenic right ventricular dysplasia 12 (MIM#611528) Naxos disease, MIM# 601214 Tags
Amber List (moderate evidence)	KBTBD13 Arrhythmogenic Cardiomyopathy v0.68	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Intrinsic cardiomyopathy MONDO:0000591 Tags
Amber List (moderate evidence)	LDB3 Dilated Cardiomyopathy v1.37	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1C, with or without LVNC MIM#601493 Tags
Amber List (moderate evidence)	LEMD2 Arrhythmogenic Cardiomyopathy v0.68	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes arrhythmogenic right ventricular cardiomyopathy, MONDO:0016587 Tags founder
Amber List (moderate evidence)	LMNA Arrhythmogenic Cardiomyopathy v0.68	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Cardiomyopathy, dilated, 1A, MIM# 115200 Arrhythmogenic right ventricular cardiomyopathy Tags
Amber List (moderate evidence)	NEBL Hypertrophic cardiomyopathy_HCM v1.0	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Hypertrophic cardiomyopathy dilated cardiomyopathy Tags
Amber List (moderate evidence)	NEBL Dilated Cardiomyopathy v1.37	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Hypertrophic cardiomyopathy dilated cardiomyopathy Tags
Amber List (moderate evidence)	PLEKHM2 Dilated Cardiomyopathy v1.37	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Dilated cardiomyopathy MONDO:0005021 Tags
Amber List (moderate evidence)	PLN Arrhythmogenic Cardiomyopathy v0.68	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Arrhythmogenic right ventricular cardiomyopathy Tags founder
Amber List (moderate evidence)	RPS6KB1 Hypertrophic cardiomyopathy_HCM v1.0	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Hypertrophic cardiomyopathy, MONDO:0005045, RPS6KB1-related Tags
Amber List (moderate evidence)	SLC6A6 Dilated Cardiomyopathy v1.37	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hypotaurinaemic retinal degeneration and cardiomyopathy (HTRDC), MIM#145350 Early retinal degeneration cardiomyopathy Tags
Amber List (moderate evidence)	TMEM43 Dilated Cardiomyopathy v1.37	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Arrhythmogenic right ventricular dysplasia 5 (MIM# 604400) Tags
Amber List (moderate evidence)	TTN Hypertrophic cardiomyopathy_HCM v1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Hypertrophic cardiomyopathy Tags
Amber List (moderate evidence)	TULP3 Hypertrophic cardiomyopathy_HCM v1.0	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hepatorenocardiac degenerative fibrosis, MIM# 619902 Tags
Red List (low evidence)	ANKRD1 Hypertrophic cardiomyopathy_HCM v1.0	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes hypertrophic cardiomyopathy Tags
Red List (low evidence)	ANKRD1 Dilated Cardiomyopathy v1.37	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Dilated cardiomyopathy Tags
Red List (low evidence)	BMP10 Dilated Cardiomyopathy v1.37	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Dilated cardiomyopathy MONDO:0005021 Tags
Red List (low evidence)	BVES Arrhythmogenic Cardiomyopathy v0.68	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 25 616812 Tags
Red List (low evidence)	C1QBP Hypertrophic cardiomyopathy_HCM v1.0	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Combined oxidative phosphorylation deficiency 33, MIM#617713 Tags
Red List (low evidence)	CALR3 Hypertrophic cardiomyopathy_HCM v1.0	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hypertrophic cardiomyopathy Tags refuted
Red List (low evidence)	CAV3 Hypertrophic cardiomyopathy_HCM v1.0	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, familial hypertrophic, MIM# 192600 Tags
Red List (low evidence)	CDH2 Dilated Cardiomyopathy v1.37	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Arrhythmogenic right ventricular dysplasia, familial, 14 MIM#618920 Tags
Red List (low evidence)	CHRM2 Dilated Cardiomyopathy v1.37	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert Review Phenotypes Familial Dilated Cardiomyopathy MONDO#0016333, CHRM2-related Tags
Red List (low evidence)	CORIN Hypertrophic cardiomyopathy_HCM v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes ?Cardiomyopathy, familial hypertrophic, 30, atrial (MIM:620734) Tags
Red List (low evidence)	CRYAB Dilated Cardiomyopathy v1.37	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1II, MIM#615184 Tags
Red List (low evidence)	CSRP3 Dilated Cardiomyopathy v1.37	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1M MIM#607482 Tags disputed
Red List (low evidence)	DNAJB4 Hypertrophic cardiomyopathy_HCM v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Myopathy, MONDO:0005336, DNAJB4-related Tags
Red List (low evidence)	DSC2 Dilated Cardiomyopathy v1.37	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Arrhythmogenic right ventricular dysplasia 11 with or without mild palmoplantar keratoderma and woolly hair MIM#610476 Tags
Red List (low evidence)	FXN Hypertrophic cardiomyopathy_HCM v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Friedreich ataxia MIM#229300 Tags
Red List (low evidence)	GAA Hypertrophic cardiomyopathy_HCM v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Glycogen storage disease II, MIM#232300 Tags
Red List (low evidence)	ILK Dilated Cardiomyopathy v1.37	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Dilated cardiomyopathy Tags
Red List (low evidence)	KLF10 Hypertrophic cardiomyopathy_HCM v1.0	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes HCM Tags
Red List (low evidence)	LAMA4 Dilated Cardiomyopathy v1.37	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1JJ (MIM#615235) Tags disputed
Red List (low evidence)	MYBPC3 Dilated Cardiomyopathy v1.37	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1MM, MIM#615396 Tags
Red List (low evidence)	MYH6 Hypertrophic cardiomyopathy_HCM v1.0	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hypertrophic cardiomyopathy Tags
Red List (low evidence)	MYLK2 Hypertrophic cardiomyopathy_HCM v1.0	2 reviews 2 red	Other	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, hypertrophic, 1, digenic, 192600 Tags
Red List (low evidence)	MYOM1 Hypertrophic cardiomyopathy_HCM v1.0	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hypertrophic cardiomyopathy, MONDO:0005045 Tags
Red List (low evidence)	MYOZ2 Hypertrophic cardiomyopathy_HCM v1.0	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, hypertrophic, 16 MIM#613838 Tags
Red List (low evidence)	MYPN Hypertrophic cardiomyopathy_HCM v1.0	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Cardiomyopathy, hypertrophic, 22 (MIM# 615248) Tags
Red List (low evidence)	NEXN Hypertrophic cardiomyopathy_HCM v1.0	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, hypertrophic, 20, MIM# 613876 Tags
Red List (low evidence)	OBSCN Hypertrophic cardiomyopathy_HCM v1.0	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Hypertrophic cardiomyopathy Tags
Red List (low evidence)	PDLIM3 Hypertrophic cardiomyopathy_HCM v1.0	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Hypertrophic cardiomyopathy Tags
Red List (low evidence)	PPCS Dilated Cardiomyopathy v1.37	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Cardiomyopathy, dilated, 2C, MIM# 618189 Tags
Red List (low evidence)	RYR2 Hypertrophic cardiomyopathy_HCM v1.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Hypertrophic cardiomyopathy Tags
Red List (low evidence)	RYR2 Arrhythmogenic Cardiomyopathy v0.68	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Arrhythmogenic right ventricular dysplasia 2, MIM# 600996 Tags refuted
Red List (low evidence)	SLC25A4 Hypertrophic cardiomyopathy_HCM v1.0	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD MIM#617184 Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MIM#609283 Tags
Red List (low evidence)	SOD2 Dilated Cardiomyopathy v1.37	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Lethal neonatal dilated cardiomyopathy Tags
Red List (low evidence)	TAZ Dilated Cardiomyopathy v1.37	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Barth syndrome (MIM# 302060) Tags
Red List (low evidence)	TCAP Dilated Cardiomyopathy v1.37	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 7 (MIM# 601954) Cardiomyopathy, hypertrophic, 25 (MIM# 607487) Tags
Red List (low evidence)	TCAP Hypertrophic cardiomyopathy_HCM v1.0	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, hypertrophic, 25, MIM# 607487 Tags disputed
Red List (low evidence)	TGFB3 Arrhythmogenic Cardiomyopathy v0.68	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Arrhythmogenic right ventricular dysplasia 1, MIM# 107970 Tags 5'UTR
Red List (low evidence)	UQCRFS1 Hypertrophic cardiomyopathy_HCM v1.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Mitochondrial Complex III deficiency lactic acidosis fetal bradycardia hypertrophic cardiomyopathy alopecia totalis Tags
Red List (low evidence)	VCL Hypertrophic cardiomyopathy_HCM v1.0	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, hypertrophic, 15, MIM# 613255 Tags

Cardiomyopathy_Adult_SuperPanel (Version 2.5)

131 Entities

131 reviewed, 68 green

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

2 reviews