American College of Medical Genetics and Genomics List of Genes Associated With Cardiac Disorders in Which Mutations Are Reportable
| Condition | Gene |
|---|---|
| Arrhythmogenic right ventricular cardiomyopathy | PKP2, DSP, DSC2, TMEM43, DSG2 |
| Cardiomyopathy, hypertrophic or dilated | MYBPC3, MYH7, TNNT2, TNNI3, TPM1, MYL3, ACTC1, PRKAG2, GLA, MYL2, LMNA |
| Catecholaminergic polymorphic ventricular tachycardia | RYR2 |
| Ehlers-Danlos syndrome (vascular type) | COL3A1 |
| Familial hypercholesterolemia | LDLR, APOB, PCSK9 |
| Long-QT syndromes 1, 2, and 3 | KCNQ1, KCNH2, SCN5A |
| Marfan syndrome, Loeys-Dietz syndrome, and familial thoracic aortic aneurysms and dissections | FBN1, TGFBR1, TGFBR2, SMAD3, ACTA2, MYLK, MYH11 |
| Tuberous sclerosis syndrome | TSC1, TSC2 |
Reprinted from Dorschner et al51 with permission from The American Society of Human Genetics. Copyright © 2013, The American Society of Human Genetics.