Table 14.

Genes implicated in dilated cardiomyopathy

Gene	Locus	Phenotype–syndrome	Protein (functional effect)	Frequency	ClinGen classification
TTN	2q31.2	DCM	Titin	∼15–25%	Definitive
LMNA	1q22	DCM, ACM	Lamin A/C	∼4–7%	Definitive
MYH7	14q11.2	HCM	Bêta Myosin heavy chain	∼3–5%	Definitive
TNNT2	1q32.1	HCM, DCM	Troponin T	∼2%	Definitive
RBM20	10q25.2	DCM	RNA-binding motif protein 20	∼2%	Definitive
PLN	6q22.31	DCM, ACM	Phospholamban	∼1% (more in Netherlands)	Definitive
FLNC	7q32.1	DCM≫BiVACM	Filamin-C	∼3%	Definitive
BAG3	10q26.11	DCM, myopathy	BAG family molecular chaperone regulator 3	∼2%	Definitive
DSP	6p24.3	ARVC, DCM	Desmoplakin	1–3%	Strong
TPM1	15q22.1	HCM, DCM	alpha-tropomyosin	∼1–2%	Moderate
ACTC1	15q11q14	HCM, DCM	Cardiac alpha-actin	<1%	Moderate
ACTN2	1q43	HCM, DCM, LVNC	Alpha-actinin-2	<1%	Moderate
DES	2q35	DCM, Myopathy, ACM	Desmin	<1%	Definitive
JPH2	20q13.12	DCM, HCM	Junctophilin 2	<1%	Moderate
NEXN	1p31.1	DCM, HCM	Nexilin	<1%	Moderate
SCN5A	3p22.2	LQTS, Brugada, DCM, ACM	Sodium channel protein type 5 subunit alpha	<1%	Definitive
TNNC1	3p21.1	DCM, HCM	Cardiac Troponin C	<1%	Definitive
TNNI3	19q13.4	HCM, DCM	Cardiac troponin I	<1%	Moderate
VCL	10q22.2	DCM	Metavinculin	<1%	Moderate

ACM, arrhythmogenic cardiomyopathy; DCM, dilated cardiomyopathy; HCM, hypertrophic cardiomyopathy.