This Panel is marked as Retired
Dilated Cardiomyopathy (DCM)
Gene: PRKAG2
PRKAG2 (protein kinase AMP-activated non-catalytic subunit gamma 2)
EnsemblGeneIds (GRCh38): ENSG00000106617
EnsemblGeneIds (GRCh37): ENSG00000106617
OMIM: 602743, Gene2Phenotype
PRKAG2 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000106617
EnsemblGeneIds (GRCh37): ENSG00000106617
OMIM: 602743, Gene2Phenotype
PRKAG2 is in 14 panels
1 review
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Sources
-
- OMIM
- 602743
- Clinvar variants
- Variants in PRKAG2
- Penetrance
- Complete
- Panels with this gene
-
- Glycogen storage disease
- Hypertrophic cardiomyopathy
- Likely inborn error of metabolism
- Hereditary neuropathy or pain disorder
- Acute rhabdomyolysis
- Undiagnosed metabolic disorders
- Ketotic hypoglycaemia
- Fetal anomalies
- Dilated Cardiomyopathy and conduction defects
- Rhabdomyolysis and metabolic muscle disorders
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary neuropathy
- Progressive cardiac conduction disease
- Paediatric or syndromic cardiomyopathy
History Filter Activity
11 Feb 2016, Gel status: 0
Approved Gene
Caroline Wright (Genomics England Curator)This proposed gene was validated and added to this panel
6 Jan 2016, Gel status: 0
Added New Source
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)PRKAG2 was added to Dilated Cardiomyopathy (DCM)panel. Sources: Oxford Medical Genetics Laboratory
6 Jan 2016, Gel status: 0
Created
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)PRKAG2 was created by OxfordGenetics