Sudden death in young people

Gene: RYR2

No list

RYR2 (ryanodine receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000198626
EnsemblGeneIds (GRCh37): ENSG00000198626
OMIM: 180902, Gene2Phenotype
RYR2 is in 13 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Kept RYR2 as Grey because the RYR2 gene is Green on the 'Arrhythmogenic Right Ventricular Cardiomyopathy' and 'Catecholaminergic Polymorphic Ventricular Tachycardia' panels: the ARVC and CPVT panels are among a number of cardiac panels that should be applied to sudden death patients alongside this panel (see panel Description for a full list).
Created: 27 Feb 2017, 4:13 p.m.

Bill Newman (Manchester Centre for Genomic Medicine)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

  • see Ackerman paper on molecular autopsy

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 2, 600996
  • Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772
Tags
curated_removed
OMIM
180902
Clinvar variants
Variants in RYR2
Penetrance
Complete
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: RYR2.

15 Aug 2017, Gel status: 0

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been removed from the panel.

15 Aug 2017, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for RYR2 were set to Arrhythmogenic right ventricular dysplasia 2, 600996; Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772

15 Aug 2017, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for RYR2 were set to 27114410

23 Feb 2017, Gel status: 0

Created

Bill Newman (Manchester Centre for Genomic Medicine)

RYR2 was created by Reviewer_05

23 Feb 2017, Gel status: 0

Added New Source

Bill Newman (Manchester Centre for Genomic Medicine)

RYR2 was added to Sudden death in young peoplepanel. Sources: UKGTN