Table 3. Genetic Causes of Hypertrophic Cardiomyopathy.

Gene	Locus	OMIM*	Gene Product	Frequency**	Allelic Disorders
AUTOSOMAL DOMINANT HCM
MYH7	14q12	160760	β-myosin heavy chain	30-40%	DCM, Laing distal myopathy
MYBPC3	11p11.2	600958	myosin-binding protein C,	30-40%	DCM
TNNT2	1q32	191045	cardiac troponin T	5%	DCM
TNNI3	19p13.4	191044	cardiac troponin I	5%	DCM, restrictive cardiomyopathy
TPM1	15q22.1	191010	α-tropomyosin	∼1-2%	DCM
MYL2	12q23-q24.3	160781	cardiac myosin light chain 2	?	N/A
MYL3	3p	160790	myosin light chain 3	∼1%	N/A
ACTC	15q14	102540	cardiac actin	∼1%	DCM
TTN	2q31	188840	titin	Rare	DCM, Udd distal myopathy; Edstrom myopathy; early onset myopathy with fatal cardiomyopathy
MYH6	14q12	160710	α-myosin heavy chain	<1%	DCM, dominantly inherited atrial septal defect
TCAP	17q12	604488	titin cap or telethonin	<1%	DCM, Limb Girdle Muscular Dystrophy (LGMD) 2G
MYOZ2	10q22.1	605602	myozenin 1	<1%	N/A
CSRP3	11p15.1	600824	muscle LIM protein	Rare	DCM
MYLK2	20q13.3	606566	myosin light chain kinase 2	Rare	N/A
LDB3	10q22.2-q23.3	605906	LIM domain-binding 3	Rare	DCM, myofibrillar myopathy
VCL	10q22.1-q23	193065	metavinculin	Rare	DCM
ACTN2	1q42-q43	102573	α-actinin 2	Rare	DCM
PLN	6q22.1	172405	phospholamban	Rare	DCM
JPH2	20q12	605267	junctophilin 2	Rare	N/A
CAV3	3p25	601253	caveolin 3	Rare	Long QT syndrome 9, LGMD1C, isolated persistent hyperCKemia, rippling muscle disease
CALR3	19p13.12	611414	calreticulin 3	Rare	N/A

^*OMIM is Online Mendelian Inheritance in Man, URL: http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim.

^**These estimates have been generated from primary and available secondary reports. See reference 1 for additional on-line gene-specific genetic testing information.