Hypertrophic cardiomyopathy (Version 2.0)

Description

This panel contains genes associated with hypertrophic cardiomyopathy or isolated left ventricular hypertrophy (including sarcomere, sarcomere-associated and syndromic conditions), typically with onset in adolescence or adulthood. For early-onset hypertrophic 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 was developed by VCGS and is maintained by VCGS and RMH. It has been compared against the Genomics England 'Hypertrophic Cardiomyopathy  - teen and adult' panel and incorporates gene-disease validity assessments by the ClinGen HCM working group (PMID: 30681346), 5/8/2020 and Hereditary Cardiovascular Disorders Gene Curation Expert Panel (PMID: 39132495).

Panel Activity

18 reviewers

Kristin Rigbye (Victorian Clinical Genetics Services)
Paul De Fazio (Victorian Clinical Genetics Services)
Ivan Macciocca (Victorian Clinical Genetics Services)
Ain Roesley (Victorian Clinical Genetics Services)
Anna Ritchie (Victorian Clinical Genetics Services)
Achchuthan Shanmugasundram (Genomics England)
Sarah Pantaleo (Victorian Clinical Genetics Services)
Naomi Baker (Victorian Clinical Genetics Services)
Daniel Flanagan (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Seb Lunke (Victorian Clinical Genetics Services)
Chern Lim (Victorian Clinical Genetics Services)
Dean Phelan (Victorian Clinical Genetics Services)
Lucy Spencer (Victorian Clinical Genetics Services)
Sarah Milton (Victorian Clinical Genetics Services)
Karina Sandoval (Victorian Clinical Genetics Services)
Zornitza Stark (Victorian Clinical Genetics Services)
chirag patel (Genetic Health Queensland)

65 Entities

65 reviewed, 32 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 65 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 Disease associations Cardiomyopathy, hypertrophic, 11 612098 Tags
Green Green List (high evidence)	ACTN2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations Cardiomyopathy, hypertrophic, 23, with or without LVNC, MIM# 612158 ACTN2-related cardiac and skeletal myopathy, MONDO:0700349 Tags
Green Green List (high evidence)	ALPK3	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 Disease associations Cardiomyopathy, familial hypertrophic 27, MIM# 618052 Tags
Green Green List (high evidence)	CACNA1C	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Hypertrophic cardiomyopathy, MONDO:0005045, CACNA1C-related Tags
Green Green List (high evidence)	CSRP3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Cardiomyopathy, hypertrophic, 12, MIM# 612124 Tags
Green Green List (high evidence)	DES	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Desminopathy Tags
Green Green List (high evidence)	FHL1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Disease associations Emery-Dreifuss muscular dystrophy 6, X-linked, MIM# 300696 Tags
Green Green List (high evidence)	FHOD3	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Cardiomyopathy, familial hypertrophic, 28, MIM# 619402 Tags SV/CNV
Green Green List (high evidence)	FLNC	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations Cardiomyopathy, familial hypertrophic, 26 Tags
Green Green List (high evidence)	FXN	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Friedreich ataxia MIM#229300 Tags
Green Green List (high evidence)	GLA	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 Disease associations Fabry disease (MIM# 301500) Tags
Green Green List (high evidence)	JPH2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Cardiomyopathy, hypertrophic, MIM#613873 Tags
Green Green List (high evidence)	KLHL24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MIM# 620236 Tags
Green Green List (high evidence)	LAMP2	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 Disease associations Danon disease (MIM#300257) Tags
Green Green List (high evidence)	MT-TI	2 reviews	MITOCHONDRIAL	Sources Expert Review Green Literature Disease associations Hypertrophic cardiomyopathy Tags mtDNA
Green Green List (high evidence)	MYBPC3	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 Disease associations Cardiomyopathy, dilated, 1MM, 615396 Cardiomyopathy, hypertrophic, 4, 115197 Left ventricular noncompaction 10, 615396 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 Disease associations Cardiomyopathy, hypertrophic, 1, MIM# 192600 Tags
Green Green List (high evidence)	MYL2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Cardiomyopathy, hypertrophic, 10, MIM# 608758 Tags
Green Green List (high evidence)	MYL3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Cardiomyopathy, hypertrophic, 8, MIM# 608751 Tags
Green Green List (high evidence)	PLN	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Cardiomyopathy, hypertrophic, 18 (MIM #613874) Tags
Green Green List (high evidence)	POPDC2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cardiac conduction disease with or without cardiomyopathy 2, MIM# 621367 Tags
Green Green List (high evidence)	PRKAG2	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Cardiomyopathy, hypertrophic 6, MIM# 600858 Tags
Green Green List (high evidence)	PTPN11	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Noonan syndrome 1 MIM# 163950 Tags
Green Green List (high evidence)	RAF1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Cardiomyopathy, dilated, 1NN MIM#615916 Noonan syndrome 5 MIM#611553 Tags
Green Green List (high evidence)	RIT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Green Disease associations Noonan syndrome MONDO:0018997 Tags
Green Green List (high evidence)	SLC25A4	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations 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
Green Green List (high evidence)	TNNC1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Cardiomyopathy, hypertrophic, 13 (MIM# 613243) Tags
Green Green List (high evidence)	TNNI3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Cardiomyopathy, hypertrophic, 7, MIM# 613690 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 Disease associations Cardiomyopathy, hypertrophic, 2, MIM# 115195 Tags
Green Green List (high evidence)	TPM1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Cardiomyopathy, dilated, 1Y, 611878 Cardiomyopathy, hypertrophic, 3, 115196 Left ventricular noncompaction 9, 611878 Tags
Green Green List (high evidence)	TRIM63	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cardiomyopathy, familial hypertrophic, 31, MIM# 621270 Tags
Green Green List (high evidence)	TTR	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Amyloidosis, hereditary, transthyretin-related MIM#105210 Tags treatable
Amber Amber List (moderate evidence)	ADIPOR1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Hypertrophic cardiomyopathy, MONDO:0005045, ADIPOR1-related Tags
Amber Amber List (moderate evidence)	GYG1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Disease associations Hypertrophic Cardiomyopathy Tags
Amber Amber List (moderate evidence)	MYH7B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Disease associations Hypertrophic cardiomyopathy, MONDO:0005045, MYH7B-related Tags
Amber Amber List (moderate evidence)	NEBL	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Hypertrophic cardiomyopathy dilated cardiomyopathy Tags
Amber Amber List (moderate evidence)	RPS6KB1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Hypertrophic cardiomyopathy, MONDO:0005045, RPS6KB1-related Tags
Amber Amber List (moderate evidence)	SVIL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Myofibrillar myopathy, MIM#619040 Tags
Amber Amber List (moderate evidence)	TTN	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Hypertrophic cardiomyopathy Tags
Amber Amber List (moderate evidence)	TULP3	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Hepatorenocardiac degenerative fibrosis, MIM# 619902 Tags
Red Red List (low evidence)	ANKRD1	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Hypertrophic cardiomyopathy, MONDO:0005045 Tags disputed
Red Red List (low evidence)	C1QBP	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Combined oxidative phosphorylation deficiency 33, MIM#617713 Tags
Red Red List (low evidence)	CALR3	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Hypertrophic cardiomyopathy, MONDO:0005045 Tags disputed
Red Red List (low evidence)	CASQ2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Disease associations Hypertrophic cardiomyopathy, MONDO:0005045 Tags disputed
Red Red List (low evidence)	CAV3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Cardiomyopathy, familial hypertrophic, MIM# 192600 Tags
Red Red List (low evidence)	CORIN	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations ?Cardiomyopathy, familial hypertrophic, 30, atrial (MIM:620734) Tags
Red Red List (low evidence)	DNAJB4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Myopathy, MONDO:0005336, DNAJB4-related Tags
Red Red List (low evidence)	DSP	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Disease associations Hypertrophic cardiomyopathy, MONDO:0005045 Tags disputed
Red Red List (low evidence)	GAA	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Glycogen storage disease II, MIM#232300 Tags
Red Red List (low evidence)	KCNQ1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Disease associations Hypertrophic cardiomyopathy, MONDO:0005045 Tags disputed
Red Red List (low evidence)	KLF10	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Hypertrophic cardiomyopathy MONDO:0005045, KLF10-related Tags
Red Red List (low evidence)	MYH6	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Hypertrophic cardiomyopathy, MONDO:0005045 Tags disputed
Red Red List (low evidence)	MYLK2	3 reviews 3 red	Other	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Cardiomyopathy, hypertrophic, 1, digenic, 192600 Tags disputed
Red Red List (low evidence)	MYOM1	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Hypertrophic cardiomyopathy, MONDO:0005045 Tags disputed
Red Red List (low evidence)	MYOZ2	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Hypertrophic cardiomyopathy, MONDO:0005045 Tags disputed
Red Red List (low evidence)	MYPN	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Disease associations Hypertrophic cardiomyopathy, MONDO:0005045 Tags disputed
Red Red List (low evidence)	NEXN	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Cardiomyopathy, hypertrophic, 20, MIM# 613876 Tags
Red Red List (low evidence)	OBSCN	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Disease associations Hypertrophic cardiomyopathy Tags
Red Red List (low evidence)	PDLIM3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Disease associations Hypertrophic cardiomyopathy Tags
Red Red List (low evidence)	PHLPP2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Disease associations Hypertrophic cardiomyopathy MONDO:0005045, PHLPP2-related Tags
Red Red List (low evidence)	RYR2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Disease associations Hypertrophic cardiomyopathy Tags
Red Red List (low evidence)	TCAP	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Cardiomyopathy, hypertrophic, 25, MIM# 607487 Tags disputed
Red Red List (low evidence)	TTL	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Hypertrophic cardiomyopathy, MONDO:0005045, TTL-related Tags
Red Red List (low evidence)	UQCRFS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Mitochondrial Complex III deficiency lactic acidosis fetal bradycardia hypertrophic cardiomyopathy alopecia totalis Tags
Red Red List (low evidence)	VCL	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Hypertrophic cardiomyopathy, MONDO:0005045 Tags disputed

Hypertrophic cardiomyopathy (Version 2.0)

18 reviewers

65 Entities

65 reviewed, 32 green

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