Dilated Cardiomyopathy (Version 1.33)

Description

This panel was developed and is maintained by VCGS.

It contains genes typically associated with isolated dilated cardiomyopathy, with onset in adolescence or adulthood. For early onset dilated cardiomyopathy, or in the presence of additional features suggestive of an underlying metabolic or syndromic disorder please consider the Cardiomyopathy_Paediatric panel. Where the type of cardiomyopathy is unclear, consider using the Cardiomyopathy Superpanel.

This panel has been compared against the Genomics England 'Dilated Cardiomyopathy - teen and adult' panel with all discrepancies resolved and reciprocal feedback provided to Genomics England 5/8/2020.

The panel is aligned with the assessments of DCM genes by ClinGen, Jordan E et al, 2021, PMID 33947203.

Panel Activity

15 reviewers

Kristin Rigbye (Victorian Clinical Genetics Services)
Paul De Fazio (Victorian Clinical Genetics Services)
Ivan Macciocca (Victorian Clinical Genetics Services)
Teresa Zhao (Victorian Clinical Genetics Services)
Ain Roesley (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Suliman Khan (Victorian Clinical Genetics Services)
Crystle Lee (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Naomi Baker (Victorian Clinical Genetics Services)
Sangavi Sivagnanasundram (Melbourne Health)
Paul De Fazio (Victorian Clinical Genetics Services)
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Daniel Flanagan (Victorian Clinical Genetics Services)
Michelle Torres (Victorian Clinical Genetics Services)

56 Entities

56 reviewed, 31 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 56 Entitiess
Green Green List (high evidence)	ACTC1	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 Green List (high evidence)	ACTN2	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 Green List (high evidence)	ALPK3	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 Green List (high evidence)	BAG3	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 Green List (high evidence)	BAG5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cardiomyopathy, dilated, 2F, MIM# 619747 Tags
Green Green List (high evidence)	C10orf71	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Phenotypes dilated cardiomyopathy MONDO:0005021 Tags
Green Green List (high evidence)	CAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cardiomyopathy, dilated, 2I (MIM#620462) Tags
Green Green List (high evidence)	DES	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 Green List (high evidence)	DMD	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 Green List (high evidence)	DSP	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 Green List (high evidence)	FKRP	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 Green List (high evidence)	FLNC	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Dilated cardiomyopathy Tags
Green Green List (high evidence)	LAMP2	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 Green List (high evidence)	LMNA	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 Green List (high evidence)	MYH7	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 Green List (high evidence)	MYZAP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cardiomyopathy, dilated, 2K, MIM# 620894 Tags
Green Green List (high evidence)	NEXN	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 Green List (high evidence)	PKP2	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 Green List (high evidence)	PLN	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 Green List (high evidence)	PRDM16	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 Green List (high evidence)	RBM20	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 Green List (high evidence)	SCN5A	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 Green List (high evidence)	TBX20	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Dilated cardiomyopathy, MONDO:0005021, TBX20-related Tags
Green Green List (high evidence)	TBX5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Holt-Oram syndrome, MIM# 142900 Dilated cardiomyopathy Tags
Green Green List (high evidence)	TNNC1	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 Green List (high evidence)	TNNI3	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 Green List (high evidence)	TNNI3K	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Cardiac conduction disease with or without dilated cardiomyopathy, MIM# 616117 Tags
Green Green List (high evidence)	TNNT2	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 Green List (high evidence)	TPM1	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 Green List (high evidence)	TTN	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 Green List (high evidence)	VCL	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 Amber List (moderate evidence)	DOLK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital disorder of glycosylation, type Im MIM#610768 Tags
Amber Amber List (moderate evidence)	DSG2	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 Amber List (moderate evidence)	EMD	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 Amber List (moderate evidence)	FKTN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cardiomyopathy, dilated, 1X MIM#611615 Tags SV/CNV
Amber Amber List (moderate evidence)	GATA6	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Dilated cardiomyopathy Tags
Amber Amber List (moderate evidence)	JPH2	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cardiomyopathy, dilated, 2E, MIM# 619492 Tags founder
Amber Amber List (moderate evidence)	JUP	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 Amber List (moderate evidence)	LDB3	1 review	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 Amber List (moderate evidence)	NEBL	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Hypertrophic cardiomyopathy dilated cardiomyopathy Tags
Amber Amber List (moderate evidence)	SLC6A6	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 Amber List (moderate evidence)	TMEM43	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Arrhythmogenic right ventricular dysplasia 5 (MIM# 604400) Tags
Red Red List (low evidence)	ANKRD1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Dilated cardiomyopathy Tags
Red Red List (low evidence)	CDH2	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 Red List (low evidence)	CHRM2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red Phenotypes Familial Dilated Cardiomyopathy MONDO#0016333, CHRM2-related Tags
Red Red List (low evidence)	CRYAB	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 Red List (low evidence)	CSRP3	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 Red List (low evidence)	DSC2	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 Red List (low evidence)	ILK	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Dilated cardiomyopathy Tags
Red Red List (low evidence)	LAMA4	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 Red List (low evidence)	MYBPC3	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 Red List (low evidence)	NKX2-5	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Dilated cardiomyopathy Tags
Red Red List (low evidence)	PPCS	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Cardiomyopathy, dilated, 2C, MIM# 618189 Tags
Red Red List (low evidence)	SOD2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Lethal neonatal dilated cardiomyopathy Tags
Red Red List (low evidence)	TAZ	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 Red List (low evidence)	TCAP	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

Major version comments

2021-05-18 09:20 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
Fully reviewed and promoted to V1.

Dilated Cardiomyopathy (Version 1.33)

15 reviewers

56 Entities

56 reviewed, 31 green

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