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

Genes are organized alphabetically.

From: Arrhythmogenic Right Ventricular Cardiomyopathy Overview

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Mirzaa GM, Pagon RA, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2023.
Copyright © 1993-2023, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source ( and copyright (© 1993-2023 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.