Table 2.

Genes of Interest in the Differential Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy (ClinGen Gene Validity Classification: Limited)

Gene 1Selected Allelic DisordersOMIM Gene Entry
CDH2 Agenesis of corpus callosum, cardiac, ocular, & genital syndrome 114020
CTNNA3 607667
LMNA CMT; Emery-Dreifuss muscular dystrophy; heart-hand syndrome, Slovenian type; Hutchinson-Gilford progeria syndrome; LMNA-related DCM 150330
MYBPC3 DCM; HCM; left ventricular noncompaction 600958
MYH7 DCM; HCM; Laing distal myopathy; left ventricular noncompaction; myosin storage myopathy; scapuloperoneal myopathy 160760
MYL3 HCM 160790
RYR2 Catecholaminergic polymorphic ventricular tachycardia 180902
SCN5A Atrial fibrillation; Brugada syndrome; DCM; familial paroxysmal ventricular fibrillation; long QT syndrome; progressive conduction system disease; sick sinus syndrome 600163
TGFB3 Loeys-Dietz syndrome 190230
TJP1 601009
TTN DCM; HCM; hereditary myopathy w/early respiratory failure; Salih myopathy; Udd distal myopathy – tibial muscular dystrophy 188840
1.

Genes are organized alphabetically.

From: Arrhythmogenic Right Ventricular Cardiomyopathy Overview

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