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Table 1 Clinically relevant cardiac gene list

From: High throughput exome coverage of clinically relevant cardiac genes

  Phenotype Associated genes
American College of Medical Genetics ▪ Hypertrophic cardiomyopathy MYBPC3, MYH7, TNNT2, TNNI3, TPM1, MYL3, ACTC1, PRKAG2, GLA, MYL2, LMNA
▪ Dilated cardiomyopathy
▪ Catecholaminergic polymorphic ventricular tachycardia RYR2
▪ Arrhythmogenic right ventricular cardiomyopathy PKP2, DSP, DSC2, TMEM43, DSG2
▪ Romano–Ward long QT syndrome KCNQ1, KCNH2, SCN5A
▪ Brugada syndrome
▪ Familial hypercholesterolemia LDLR, APOB, PCSK9
▪ Ehlers–Danlos syndrome, vascular type COL3A1
▪ Marfan syndrome FBN1, TGFBR1, TGFBR2, SMAD3, ACTA2, MYLK, MYH11
▪ Loeys–Dietz syndromes
▪ Familial thoracic aortic aneurysms and dissections
CHD genes ▪ 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
  1. Gene list includes American College of Medical Genetics list for reporting of incidental findings (n = 31) and genes associated with congenital heart disease (CHD) for which clinical testing is available (n = 19). All genes are listed according their HUGO Gene Nomenclature Committee (HGNC).