Transplant Co-Morbidity Superpanel
Gene: RYR2
RYR2 (ryanodine receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000198626
EnsemblGeneIds (GRCh37): ENSG00000198626
OMIM: 180902, Gene2Phenotype
RYR2 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000198626
EnsemblGeneIds (GRCh37): ENSG00000198626
OMIM: 180902, Gene2Phenotype
RYR2 is in 10 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance
- Phenotypes
-
- Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772
- Arrhythmogenic right ventricular dysplasia 2 , MIM#600996
- OMIM
- 180902
- Clinvar variants
- Variants in RYR2
- Penetrance
- None
- Panels with this gene
-
- Incidentalome
- Additional findings_Adult
- Arrhythmogenic Cardiomyopathy
- Additional findings_Paediatric
- Cardiomyopathy_Paediatric
- Incidentalome_PREGEN_DRAFT
- BabyScreen+ newborn screening
- Catecholaminergic Polymorphic Ventricular Tachycardia
- Transplant Co-Morbidity Superpanel
- Hypertrophic cardiomyopathy_HCM
History Filter Activity
1 Aug 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: RYR2 was added gene: RYR2 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RYR2 were set to Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772; Arrhythmogenic right ventricular dysplasia 2 , MIM#600996