Table 2.

Hypertrophic Cardiomyopathy Genes

Gene 1MOI% of HCM Caused by Pathogenic Variants in Gene 2ClinGen Gene Validity ClassificationAllelic Disorders 3References / OMIM Gene Entry
MYBPC3 AD50% Definitive DCM 600958
MYH7 AD33% Definitive 160760
TNNI3 AD5% Definitive
  • Restrictive cardiomyopathy
 191044
TNNT2 AD4% Definitive
  • Left ventricular non-compaction
  • Familial restrictive cardiomyopathy
 191045
ACTC1 AD<3% Definitive DCM 102540
MYL2 AD<3% Definitive DCM 160781
MYL3 AD
AR		<3% Definitive 160790
PLN AD<3%Definitive 4DCM, ARVC 172405
TPM1 AD<3% Definitive DCM 191010
ALPK3 ARRare Strong 617608
ACTN2 AD<1%Moderate 4 DCM 102573
CSRP3 AD<1% Moderate DCM 600824
TNNC1 AD<1% Moderate DCM 191040
JPH2 ADRare Moderate DCM 605267
MYOZ2 AD<1% Limited 605602
NEXN AD<1% Limited DCM 613121
ANKRD1 ADRare Limited DCM
CALR3 ADRare Limited 611414
KLF10 ADRare Limited 601878
MYH6 ADRare Limited DCM 160710
MYLK2 DigenicRare Limited 606566
MYOM1 ADRare Limited 603508
MYPN ADRare Limited
  • Nemaline myopathy
 608517
PDLIM3 ADRare Limited 605889
RYR2 ADRare Limited 180902
TCAP ADRare Limited 604488
TRIM63 ADRare Limited 606131
TTN ADRare Limited 613765
VCL ADRare Limited DCM 193065

AD = autosomal dominant; AR = autosomal recessive; ARVC = arrhythmogenic right ventricular cardiomyopathy; DCM = dilated cardiomyopathy; LGMD2G = limb-girdle muscular dystrophy type 2G; LGMD2J = limb-girdle muscular dystrophy type 2J; MOI = mode of inheritance

1.

Genes are ordered first by validity classification, then frequency of causation of HCM, and then alphabetically.

2.

Prevalence data list for genes included in Alfares et al [2015]. "Rare" denotes genes not included in this paper.

3.

Allelic disorders = other phenotypes caused by pathogenic variants in the same gene

4.

PLN and ACTN2 were curated for intrinsic cardiomyopathy given their association with a spectrum of cardiac phenotypes, including isolated LVH and HCM.

From: Hypertrophic Cardiomyopathy Overview

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