Arrhythmogenic Cardiomyopathy

Gene: RYR2

Red List (low evidence)

Gene-disease association assessed as REFUTED by ClinGen: 57 papers reviewed in the process. Some of the original variants were relatively often present in reference alleles from the gnomAD database, clear ARVD diagnosis was not provided, segregation information was not informative and/or CPVT was also present in the family. In a recent review it was also recognized that the observed phenotype in the original three publications that reported RYR2 variants in ARVD for the first time should be catecholamine-induced ventricular tachycardia rather than ARVD, and this gene is no longer considered as ARVD causing (29543670).

Created: 2 Aug 2020, 7:42 a.m. | Last Modified: 3 Aug 2020, 6:59 a.m.

Panel Version: 0.27

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Arrhythmogenic right ventricular dysplasia 2, MIM# 600996

Publications

• 11159936
• 25041964
• 29543670