Hereditary neuropathy
Gene: PRKAG2EnsemblGeneIds (GRCh38): ENSG00000106617
EnsemblGeneIds (GRCh37): ENSG00000106617
OMIM: 602743, Gene2Phenotype
PRKAG2 is in 14 panels
5 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
Natalie Forrester (SWGLH - Bristol Genetics)
Unable to find any evidence of clear neuropathy associationCreated: 29 Apr 2019, 12:30 p.m.
Phenotypes
Cardiomyopathy
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Alexander Rossor (UCL Institute of Neurology)
Not a CMT geneCreated: 9 Dec 2015, 8:50 a.m.
Mary Reilly (Institute of Neurology)
Not a CMT geneCreated: 8 Dec 2015, 3:06 p.m.
Details
- Sources
-
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
- Phenotypes
-
- Cardiomyopathy
- OMIM
- 602743
- Clinvar variants
- Variants in PRKAG2
- Penetrance
- Complete
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Progressive cardiac conduction disease
- Hereditary neuropathy or pain disorder
- Hypertrophic cardiomyopathy
- Undiagnosed metabolic disorders
- Ketotic hypoglycaemia
- Dilated Cardiomyopathy and conduction defects
- Glycogen storage disease
- Fetal anomalies
- Hereditary neuropathy
- Acute rhabdomyolysis
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Cardiomyopathy for gene: PRKAG2
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to PRKAG2.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to PRKAG2.
Added New Source
Ellen McDonagh (Genomics England Curator)PRKAG2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory