Table 1 Clinically relevant cardiac gene list
From: High throughput exome coverage of clinically relevant cardiac genes
| Â | Phenotype | Associated genes |
|---|---|---|
American College of Medical Genetics | â–ª Hypertrophic cardiomyopathy | MYBPC3, MYH7, TNNT2, TNNI3, TPM1, MYL3, ACTC1, PRKAG2, GLA, MYL2, LMNA |
â–ª Dilated cardiomyopathy | ||
â–ª Catecholaminergic polymorphic ventricular tachycardia | RYR2 | |
â–ª Arrhythmogenic right ventricular cardiomyopathy | PKP2, DSP, DSC2, TMEM43, DSG2 | |
▪ Romano–Ward long QT syndrome | KCNQ1, KCNH2, SCN5A | |
â–ª Brugada syndrome | ||
â–ª Familial hypercholesterolemia | LDLR, APOB, PCSK9 | |
▪ Ehlers–Danlos syndrome, vascular type | COL3A1 | |
â–ª Marfan syndrome | FBN1, TGFBR1, TGFBR2, SMAD3, ACTA2, MYLK, MYH11 | |
▪ Loeys–Dietz syndromes | ||
â–ª Familial thoracic aortic aneurysms and dissections | ||
CHD genes | â–ª Genes associated with congenital heart disease | BRAF, NOTCH1, CFC1, NRAS, CHD7, PTPN11, GATA4, RAF1, HRAS, SOS1, JAG1, TBX1, KRAS, TBX5, MAP2K1, ZIC3, ELN, NKX2-5, NF1 |