Incidentalome
Gene: RYR2
DEFINITVE for CPVT.
REFUTED for ARVC.
LIMITED for HCM.Created: 12 Aug 2022, 1:02 a.m. | Last Modified: 12 Aug 2022, 1:02 a.m.
Panel Version: 0.139
ARVC: 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: 12 Aug 2022, 1:02 a.m.
Panel Version: 0.139
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772; Arrhythmogenic right ventricular dysplasia 2, MIM# 600996; Hypertrophic cardiomyopathy
Publications
Limited evidence by ClinGen working group.
Via Clingen: 8 probands with HCM across 4 publications. A mouse model lends support to pathogenicity.
No additional reports in association with HCM found.
Sources: LiteratureCreated: 29 Jul 2020, 1:10 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hypertrophic cardiomyopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
rated as definitive by ClinGen 03/08/2017Created: 6 Mar 2020, 5:11 a.m. | Last Modified: 31 May 2020, 2:26 p.m.
Panel Version: 0.10
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ventricular tachycardia, catecholaminergic polymorphic, 1 604772
Gene: ryr2 has been classified as Green List (High Evidence).
Phenotypes for gene: RYR2 were changed from to Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772; Arrhythmogenic right ventricular dysplasia 2, MIM# 600996; Hypertrophic cardiomyopathy
Publications for gene: RYR2 were set to
Mode of inheritance for gene: RYR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tag cardiac tag was added to gene: RYR2.
gene: RYR2 was added gene: RYR2 was added to Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RYR2 was set to Unknown