Sudden cardiac death - previous panel
Gene: RYR2EnsemblGeneIds (GRCh38): ENSG00000198626
EnsemblGeneIds (GRCh37): ENSG00000198626
OMIM: 180902, Gene2Phenotype
RYR2 is in 14 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
James Eden (Manchester)
Gene currently tested on Manchester cardiac gene panel. 394 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: definitive association with catecholaminergic polymorphic ventricular tachycardia 1, limited association with hypertrophic cardiomyopathy (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Arrhythmogenic right ventricular dysplasia 2 (600996); Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London South GLH
- North West GLH
- Expert Review Green
- London South GLH
- North West GLH
- Expert Review Green
- Phenotypes
-
- Arrhythmogenic right ventricular dysplasia 2 (600996)
- Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772
- Catecholaminergic polymorphic ventricular tachycardia
- Long QT syndrome
- catecholaminergic polymorphic ventricular tachycardia
- Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772)
- Arrhythmogenic right ventricular dysplasia 2, 600996
- CPVT
- Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy
- Arrhythmogenic right ventricular cardiomyopathy
- OMIM
- 180902
- Clinvar variants
- Variants in RYR2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Sudden death in young people
- Paediatric or syndromic cardiomyopathy
- Short QT syndrome
- Catecholaminergic polymorphic VT
- Hereditary neuropathy or pain disorder
- Dilated Cardiomyopathy and conduction defects
- Long QT syndrome
- Intellectual disability
- DDG2P
- Idiopathic ventricular fibrillation
- Hereditary neuropathy
- Early onset or syndromic epilepsy
- Arrhythmogenic right ventricular cardiomyopathy
- Dilated and arrhythmogenic cardiomyopathy
History Filter Activity
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 Sudden cardiac death. Sources: Expert Review Green,North West GLH,London South GLH Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RYR2 were set to 19121813; 16301704; 19862833; 30420954; 27761157 Phenotypes for gene: RYR2 were set to Arrhythmogenic right ventricular dysplasia 2 (600996); Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772; Catecholaminergic polymorphic ventricular tachycardia; Long QT syndrome; catecholaminergic polymorphic ventricular tachycardia; Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772); Arrhythmogenic right ventricular dysplasia 2, 600996; CPVT; Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy