Acute rhabdomyolysis
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
Arina Puzriakova (Genomics England Curator)
After NHS Genomic Medicine Service consideration, the rating of this gene has been left as Amber but may be subject to review in the future.Created: 16 Feb 2022, 2:32 p.m. | Last Modified: 16 Feb 2022, 2:32 p.m.
Panel Version: 0.6
PRKAG2 is rated Green on the GMS 'Rhabdomyolysis and metabolic muscle disorders panel' (version 1.34) panel. Primarily affects cardiac rather than skeletal muscle. Cannot find reports of rhabdomyolysis.Created: 19 Jan 2022, 5:51 p.m. | Last Modified: 19 Jan 2022, 6 p.m.
Panel Version: 0.3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Glycogen storage disease of heart, lethal congenital, OMIM:261740; Cardiomyopathy, hypertrophic 6, OMIM:600858
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Amber
- Phenotypes
-
- Cardiomyopathy, hypertrophic 6, OMIM:600858
- Glycogen storage disease of heart, lethal congenital, OMIM:261740
- OMIM
- 602743
- Clinvar variants
- Variants in PRKAG2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Rhabdomyolysis and metabolic muscle disorders
- Progressive cardiac conduction disease
- Hypertrophic cardiomyopathy
- Ketotic hypoglycaemia
- Dilated Cardiomyopathy and conduction defects
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary neuropathy or pain disorder
- Glycogen storage disease
- Likely inborn error of metabolism
- Hereditary neuropathy
- Acute rhabdomyolysis
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
History Filter Activity
19 Jan 2022, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: PRKAG2 was added gene: PRKAG2 was added to Acute rhabdomyolysis. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRKAG2 were set to 3385534; 16487706 Phenotypes for gene: PRKAG2 were set to Cardiomyopathy, hypertrophic 6, OMIM:600858; Glycogen storage disease of heart, lethal congenital, OMIM:261740