Idiopathic ventricular fibrillation
Gene: RYR2EnsemblGeneIds (GRCh38): ENSG00000198626
EnsemblGeneIds (GRCh37): ENSG00000198626
OMIM: 180902, Gene2Phenotype
RYR2 is in 14 panels
2 reviews
Olivia Niblock (Genomics England Curator)
Comment on list classification: After clinical discussion and literature review of this variant, we have decided to class this gene as high evidence, due to different variations found in >3 unrelated individuals linked to Idiopathic Ventricular Fibrillation as described in the literature.Created: 25 Jul 2017, 11:30 a.m.
Juan Pablo Kaski (Great Ormond Street Hospital/UCL)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CPVT
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, OMIM:115000
- Ventricular tachycardia, catecholaminergic polymorphic, 1, OMIM:604772
- OMIM
- 180902
- Clinvar variants
- Variants in RYR2
- Penetrance
- Complete
- Panels with this gene
-
- Dilated Cardiomyopathy and conduction defects
- Long QT syndrome
- Idiopathic ventricular fibrillation
- Arrhythmogenic right ventricular cardiomyopathy
- Dilated and arrhythmogenic cardiomyopathy
- Sudden death in young people
- Paediatric or syndromic cardiomyopathy
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Short QT syndrome
- Intellectual disability
- Early onset or syndromic epilepsy
- Catecholaminergic polymorphic VT
- DDG2P
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: RYR2 were changed from CPVT to Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, OMIM:115000; Ventricular tachycardia, catecholaminergic polymorphic, 1, OMIM:604772
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)22rd March 2018. Panel reviews were assessed, and panel was revised according to reviews and further curation.
Gene classified by Genomics England curator
Olivia Niblock (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Olivia Niblock (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Juan Pablo Kaski (Great Ormond Street Hospital/UCL)RYR2 was created by JKaski
Added New Source
Juan Pablo Kaski (Great Ormond Street Hospital/UCL)RYR2 was added to Idiopathic ventricular fibrillationpanel. Sources: Expert Review