Dilated Cardiomyopathy and conduction defects
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 Whittington (South West GLH)
Arrhythmogenic right ventricular dysplasia 2 OMIM#600996; Ventricular tachycardia, catecholaminergic polymorphic, 1 OMIM#604772.Created: 25 Mar 2019, 4:30 p.m.
HGMD: 19 RYR2 variants assoc with DCM, only 3 classed as DM which are all truncating variants. Haas 2015 - two truncating variants one nonsense and one frameshift on HGMD - one classed as ?DM and other as DM. Dal Ferro 2017 - One frameshift variant classed as LP in DCM.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- South West GLH
- UKGTN
- Phenotypes
-
- Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy
- OMIM
- 180902
- Clinvar variants
- Variants in RYR2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Sudden death in young people
- Paediatric or syndromic cardiomyopathy
- Short QT syndrome
- Intellectual disability
- Catecholaminergic polymorphic VT
- Hereditary neuropathy or pain disorder
- Dilated Cardiomyopathy and conduction defects
- Long QT syndrome
- DDG2P
- Idiopathic ventricular fibrillation
- Hereditary neuropathy
- Arrhythmogenic right ventricular cardiomyopathy
- Early onset or syndromic epilepsy
- Dilated and arrhythmogenic cardiomyopathy
History Filter Activity
1 Mar 2023, Gel status: 1
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: RYR2 were set to
21 Feb 2019, Gel status: 1
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to RYR2. Mode of inheritance for gene RYR2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
14 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)RYR2 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: UKGTN