Table 6.

American College of Medical Genetics and Genomics List of Genes Associated With Cardiac Disorders in Which Mutations Are Reportable

Arrhythmogenic right ventricular cardiomyopathyPKP2, DSP, DSC2, TMEM43, DSG2
Cardiomyopathy, hypertrophic or dilatedMYBPC3, MYH7, TNNT2, TNNI3, TPM1, MYL3, ACTC1, PRKAG2, GLA, MYL2, LMNA
Catecholaminergic polymorphic ventricular tachycardiaRYR2
Ehlers-Danlos syndrome (vascular type)COL3A1
Familial hypercholesterolemiaLDLR, APOB, PCSK9
Long-QT syndromes 1, 2, and 3KCNQ1, KCNH2, SCN5A
Marfan syndrome, Loeys-Dietz syndrome, and familial thoracic aortic aneurysms and dissectionsFBN1, TGFBR1, TGFBR2, SMAD3, ACTA2, MYLK, MYH11
Tuberous sclerosis syndromeTSC1, TSC2
  • Reprinted from Dorschner et al51 with permission from The American Society of Human Genetics. Copyright © 2013, The American Society of Human Genetics.