Rhabdomyolysis and Metabolic Myopathy
Gene: PRKAG2
Skeletal myopathy with exercise intolerance as a common feature is reported as a feature in at least 3 families.Created: 12 Apr 2023, 9:27 a.m. | Last Modified: 12 Apr 2023, 9:27 a.m.
Panel Version: 0.103
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiomyopathy, hypertrophic 6 MIM#600858; Glycogen storage disease of heart, lethal congenital MIM#261740; Wolff-Parkinson-White syndrome MIM#194200
Publications
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: PRKAG2 were set to
Gene: prkag2 has been classified as Green List (High Evidence).
Gene: prkag2 has been classified as Red List (Low Evidence).
Gene: prkag2 has been classified as Red List (Low Evidence).
gene: PRKAG2 was added gene: PRKAG2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PRKAG2 were set to Wolff-Parkinson-White syndrome 194200; Cardiomyopathy, hypertrophic 6 600858; Glycogen storage disease of heart, lethal congenital 261740