Sudden death in young people
Gene: RYR2
RYR2 (ryanodine receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000198626
EnsemblGeneIds (GRCh37): ENSG00000198626
OMIM: 180902, Gene2Phenotype
RYR2 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000198626
EnsemblGeneIds (GRCh37): ENSG00000198626
OMIM: 180902, Gene2Phenotype
RYR2 is in 14 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
- OMIM
- 180902
- Clinvar variants
- Variants in RYR2
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Sudden death in young people
- Hereditary neuropathy
- Early onset or syndromic epilepsy
- Dilated and arrhythmogenic cardiomyopathy
- Short QT syndrome
- Catecholaminergic polymorphic VT
- DDG2P
- Intellectual disability
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
- Long QT syndrome
- Hereditary neuropathy or pain disorder
- Idiopathic ventricular fibrillation
- Arrhythmogenic right ventricular cardiomyopathy
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