Table 1.
Cardiac structure- and function-related genes sequenced in the panel classified by disease associations.
| HCM related | ACTC1, ACTN2, ANKRD1, CALR3, CAV3, CSRP3, JPH2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYO6, MYOZ2, MYPN, NEXN, PDLIM3, PLN, PRKAG2, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, VCL |
| ACM related | DES, DSC2, DSG2, DSP, JUP, LMNA, PKP2, PLN, RYR2, SCN5A, TGFB3, TMEM43 |
| DCM related | ABCC9, ACTN2, ACTC1, ANKRD1, BAG3, CRYAB, CSRP3, DES, DMD, DSG2, EYA4, GATAD1, LAMA4, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, RBM20, SCN5A, SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL, ZBTB17 |
| LVNC related | DTNA, LDB3, LMNA, MIB1, MYBPC3, MYH7, PRDM16, TAZ, TNNT2, TPM1 |
| Metabolic disorders and syndromes with cardiac diseases and congenital heart defects | ALMS1, BRAF, CBL, COX15, CRELD1, DNAJC19, DOLK, FXN, GAA, GLA, HFE, HRAS, JAG1, KRAS, LAMP2, MAP2K1, MAP2K2, NKX2-5, NODAL, NOTCH1, NRAS, PTPN11, RAF1, SCO2, SDHA, SHOC2, SMAD4, SOS1, TBX3, TBX20, TBX5, TTR, ZIC3 |
| Arrhythmic disorders | AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CASQ2, CAV3, DPP6, GJA5, GPD1L, HCN4, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, NPPA, RANGRF, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SNTA1, TRDN, TRPM4 |
| Dyslipidemia | ABCG5, ABCG8, APOA5, APOB, APOC2, APOE, CETP, GPIHBP1, LDLR, LDLRAP1, LMF1, LPL, PCSK9, SREBF2 |
| Aortopathies/EDS | ACTA2, COL3A1, COL5A1, COL5A2, EFEMP2, ELN, FBN1, FBN2, MYH11, MYLK, SLC2A10, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2 |
| Muscular dystrophies/myopathies | ACTA1, BAG3, EMD, FHL1, FKRP, FKTN, LAMA2, RYR1, SEPN1, SGCB, SGCD, SGCG, SLC25A4, TMEM43 |
| Other | APOA4, CBS, CREB3L3, CTF1, FHL2, GCKR, HADHA, HSPB8, ILK, KLF10, LTBP2, MURC, PRKAR1A, SALL4, TXNRD2, ZHX3 |
Genes in bold had potentially disease related variants in sudden cardiac death victims.
ACM arrhythmogenic cardiomyopathy, DCM dilated cardiomyopathy, EDS Ehlers-Danlos syndrome, HCM hypertrophic cardiomyopathy, LVNC left ventricular non-compaction cardiomyopathy.