Importance of genetic evaluation and testing in pediatric cardiomyopathy

Table 1 List of important genes involved in cardiomyopathy

Gene	Total coding exons	Encoded protein (AA)	NCBI GenBank accession #	Chromosomal location	Major phenotype
Sarcomere
MYH7	38	1935	NG_007884	14q11.2	HCM, RCM, DCM, LVNC
MYBPC3	33	1274	NG_007667	11p11.2	HCM, DCM
TNNT2	15	295	NG_007556	1q32.1	HCM, RCM, DCM, LVNC
TPM1	9	284	NG_007557	15q22.2	HCM, DCM
MYL3	6	195	NG_007555	3q21.31	HCM, LVNC
MYL2	7	166	NG_007554	12q24.11	HCM, LVNC
ACTC1	6	377	NG_007553	15q14	HCM, RCM, DCM, LVNC
TNNI3	6	210	NG_007866	19q13.4	RCM
MYH6	37	1939	NC_000014	14q11.2	HCM, DCM
TNNC1	6	161	NG_008963	3p21.1	HCM, DCM, RCM
Desmosome
JUP	9	563	NG_009090	17q21.2	ARVC
DSP	24	2871	NG_008803	6p24.3	ARVC
PKP2	14	881	NG_009000	12p11.21	ARVC
DSG2	15	1118	NG_007072	18q12.1	ARVC
DSC2	16	901	NG_008208	18q12.1	ARVC
Cytoskeleton, Z-disc, etc.
ACTN2	21	894	NG_009081	1q43	HCM, DCM
DES	9	470	NG_008043	2q35	HCM, RCM, DCM, ARVC
LDB3	13	732	NG_008876	10q23.2	HCM, DCM, LVNC
CSRP3	5	194	NG_011932	11p15.1	HCM, DCM
TCAP	2	167	NG_008892	17q12	DCM
SGCD	8	290	NG_008693	5q33.3	DCM
TTN	311	33423	NG_011618	2q31.2	DCM
DMD	79	3385	NG_012232.1		DCM
MYPN	19	1320	NM_032578.2	10q21.3	HCM, DCM, RCM
PLN	1	52	NG_009082	6q22.31	HCM, DCM, ARVC
VCL	22	1134	NG_008868	10q22.2	HCM, DCM, LVNC
CRYAB	3	175	NG_009824	11q23.1	DCM
CAV3	2	151	NG_008797	3p25.3	HCM
BAG3	4	575	NM_004281.3	10q26.11	DCM
ANKRD1	9	319	NM_014391.2	10q23.31	HCM, DCM
Syndromic
TAZ	11	292	NG_009634	Xq28	DCM, LVNC
ALMS1	23	4169	NG_011690	2p13.1
PTPN11	15	593	NG_007459	12q24.13	HCM
RAF1	16	648	NG_007467	3p25.2	HCM, DCM
Others
LAMP2	9	411	NG_007995	Xq24	HCM, DCM
LMNA	12	664	NG_008692	1q22	DCM, LVNC
EMD	6	254	NG_008677	Xq28	DCM
RYR2	105	4967	NG_008799	1q43	ARVC
ABCC9	38	1549	NG_012819	12p12.1	DCM
SCN5A	27	2015	NG_008934	3p22.2	DCM
TMEM43	12	400	NG_008975	3p25.1	ARVC