Rapid molecular genetic diagnosis of hypertrophic cardiomyopathy by semiconductor sequencing

Table 1 Selected hypertrophic cardiomyopathy genes

Nr.	Gene	Ensembl number	Chromosome	CDS, n	Amplicons, n	Target, bp	Missed^#, bp	Coverage^*,%
1	MYBPC3	ENSG00000134571	chr11	32	46	3826	9	99.8
2	MYH7	ENSG00000092054	chr14	38	54	5808	127	97.8
3	TNNT2	ENSG00000118194	chr1	21	17	1286	0	100
4	ACTC1	ENSG00000159251	chr15	6	10	1134	0	100
5	TNNI3	ENSG00000129991	chr19	7	8	632	0	100
6	TPM1	ENSG00000140416	chr15	16	19	1429	0	100
7	MYL2	ENSG00000111245	chr12	7	7	501	0	100
8	MYL3	ENSG00000160808	chr3	6	8	588	71	87.9
9	TCAP	ENSG00000173991	chr17	2	4	504	0	100
10	PRKAG2	ENSG00000106617	chr7	18	22	1795	74	95.9
11	TNNC1	ENSG00000114854	chr3	6	7	486	10	97.9
12	CSRP3	ENSG00000129170	chr11	5	6	585	0	100
13	MYH6	ENSG00000197616	chr14	37	55	5820	216	96.3
14	PLN	ENSG00000198523	chr6	1	10	1503	364	75.8
15	MYOZ2	ENSG00000172399	chr4	5	10	795	0	100
16	ACTN2	ENSG00000077522	chr1	21	27	2685	0	100
17	JPH2	ENSG00000149596	chr20	6	17	2102	155	92.6
18	LAMP2	ENSG00000005893	chrX	11	19	1516	0	100
19	CAV3	ENSG00000182533	chr3	2	4	456	0	100
20	VCL	ENSG00000035403	chr10	22	37	3405	39	98.9
21	ANKRD1	ENSG00000148677	chr10	9	10	960	0	100
22	GLA	ENSG00000102393	chrX	7	13	1290	0	100
23	LDB3	ENSG00000122367	chr10	16	26	2508	0	100
24	CALR3	ENSG00000269058	chr19	9	13	1155	22	98.1
25	MYLK2	ENSG00000101306	chr20	12	22	1791	0	100
26	RYR2	ENSG00000198626	chr1	105	165	14904	74	99.5
27	CASQ2	ENSG00000118729	chr1	11	14	1200	0	100
28	FXN	ENSG00000165060	chr9	8	10	874	32	96.3
29	LMO4	ENSG00000143013	chr1	4	6	498	0	100
30	NEXN	ENSG00000162614	chr1	12	25	2028	111	94.5

Ensembl: June 2013 (GRCh37/hg19). CDS, coding sequence; *indicates in silico coverage of target sequences by multiplex PCR; ^#indicates in silico missed bases by multiplex PCR.

ISSN: 1479-5876