Genes in panel
STRs in panel
Prev Next

Cardiomyopathies - including childhood onset

Gene: RYR2

Green List (high evidence)

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

2 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

Rebecca Whittington (South West GLH)

Green List (high evidence)

Arrhythmogenic right ventricular dysplasia 2 OMIM#600996; Ventricular tachycardia, catecholaminergic polymorphic, 1 OMIM#604772.
Created: 25 Mar 2019, 4:30 p.m.
Key gene for CPVT and to some extent ARVC. HGMD: 19 RYR2 variants assoc with DCM, only 3 classed as DM which are all truncating variants. Haas 2015 - two truncating variants one nonsense and one frameshift on HGMD - one classed as ?DM and other as DM. Dal Ferro 2017 - One frameshift variant classed as LP in DCM. CPVT is associated with paediatric onset as shown in examples on OMIM.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • South West GLH
  • Expert Review Green
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 2, 600996
  • Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy
OMIM
180902
Clinvar variants
Variants in RYR2
Penetrance
None
Publications
  • http://www.ncbi.nlm.nih.gov/books/NBK1131/
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to RYR2.

4 Sep 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: RYR2 was added gene: RYR2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RYR2 were set to http://www.ncbi.nlm.nih.gov/books/NBK1131/ Phenotypes for gene: RYR2 were set to Arrhythmogenic right ventricular dysplasia 2, 600996; Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy