Acute rhabdomyolysis
Gene: PRKAG2
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
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