Cardiac arrhythmias - previous panel
Gene: RYR2EnsemblGeneIds (GRCh38): ENSG00000198626
EnsemblGeneIds (GRCh37): ENSG00000198626
OMIM: 180902, Gene2Phenotype
RYR2 is in 14 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Catecholaminergic polymorphic ventricular tachycardia
- Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772
- Arrhythmogenic right ventricular cardiomyopathy
- catecholaminergic polymorphic ventricular tachycardia
- Long QT syndrome
- OMIM
- 180902
- Clinvar variants
- Variants in RYR2
- Penetrance
- None
- Publications
-
- 21126784
- doi:10. 1007/ s12265-016-9673-5
- Panels with this gene
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- Intellectual disability
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- Long QT syndrome
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
- Arrhythmogenic right ventricular cardiomyopathy
- Short QT syndrome
- Idiopathic ventricular fibrillation
- Hereditary neuropathy
- Early onset or syndromic epilepsy
- Catecholaminergic polymorphic VT
- Sudden death in young people
- Hereditary neuropathy or pain disorder
History Filter Activity
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Checked against the component panels, and ready to be promoted to version 1.
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene: RYR2 were changed from Catecholaminergic polymorphic ventricular tachycardia; Ventricular tachycardia, catecholaminergic polymorphic, 1; Arrhythmogenic right ventricular cardiomyopathy; catecholaminergic polymorphic ventricular tachycardia; Long QT syndrome to Catecholaminergic polymorphic ventricular tachycardia; Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772; Arrhythmogenic right ventricular cardiomyopathy; catecholaminergic polymorphic ventricular tachycardia; Long QT syndrome
Set Phenotypes
Rebecca Foulger (Genomics England curator)Added phenotypes Catecholaminergic polymorphic ventricular tachycardia; Arrhythmogenic right ventricular cardiomyopathy; Long QT syndrome for gene: RYR2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: RYR2 was added gene: RYR2 was added to Cardiac arrythmias. Sources: Expert Review Green Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RYR2 were set to 21126784; doi:10. 1007/ s12265-016-9673-5 Phenotypes for gene: RYR2 were set to Catecholaminergic polymorphic ventricular tachycardia; Ventricular tachycardia, catecholaminergic polymorphic, 1; catecholaminergic polymorphic ventricular tachycardia