Short QT syndrome
Gene: RYR2EnsemblGeneIds (GRCh38): ENSG00000198626
EnsemblGeneIds (GRCh37): ENSG00000198626
OMIM: 180902, Gene2Phenotype
RYR2 is in 14 panels
1 review
James Eden (Manchester)
Gene currently tested by alternative panel, very few short QT referrals to date. 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, imprinted status unknown
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, imprinted status unknown
- Sources
-
- North West GLH
- Long QT syndrome (Version 1.5)
- Phenotypes
-
- Arrhythmogenic right ventricular dysplasia 2 (600996)
- Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772)
- OMIM
- 180902
- Clinvar variants
- Variants in RYR2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Sudden death in young people
- Intellectual disability
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Dilated and arrhythmogenic cardiomyopathy
- Short QT syndrome
- Catecholaminergic polymorphic VT
- DDG2P
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
- Long QT syndrome
- Early onset or syndromic epilepsy
- Idiopathic ventricular fibrillation
- Arrhythmogenic right ventricular cardiomyopathy
History Filter Activity
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications
Ellen McDonagh (Genomics England Curator)Source North West GLH was added to RYR2. Mode of inheritance for gene RYR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Arrhythmogenic right ventricular dysplasia 2 (600996); Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772) for gene: RYR2 Publications for gene RYR2 were changed from to 30420954; 19862833; 16301704
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)Sarah Leigh: Not associated with Short QT p
Created, Added New Source, Set mode of inheritance
Sarah Leigh (Genomics England Curator)gene: RYR2 was added gene: RYR2 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5) Mode of inheritance for gene: RYR2 was set to Unknown