Incidentalome
Gene: RYR2

RYR2 (ryanodine receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000198626
EnsemblGeneIds (GRCh37): ENSG00000198626
OMIM: 180902, Gene2Phenotype
RYR2 is in 10 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Created: 2 Aug 2020, 7:42 a.m.
Last Modified: 12 Aug 2022, 1:02 a.m.
Panel version: 0.139

Paul De Fazio (Victorian Clinical Genetics Services)

I don't know

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: Literature
Created: 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

Created: 29 Jul 2020, 1:10 a.m.

Panel version: Imported from Hypertrophic cardiomyopathy_HCM panel version 0.89

Ivan Macciocca (Victorian Clinical Genetics Services)

Green List (high evidence)

rated as definitive by ClinGen 03/08/2017
Created: 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

Created: 6 Mar 2020, 5:11 a.m.
Last Modified: 31 May 2020, 2:26 p.m.
Panel version: Imported from Catecholaminergic Polymorphic Ventricular Tachycardia panel version 0.3

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services
Victorian Clinical Genetics Services

Phenotypes

Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772
Arrhythmogenic right ventricular dysplasia 2, MIM# 600996
Hypertrophic cardiomyopathy

Tags

cardiac

OMIM

180902

Clinvar variants

Variants in RYR2

Penetrance

None

Publications

Panels with this gene