Rhabdomyolysis and metabolic muscle disorders
Gene: PRKAG2Although rhabdomyolysis is not a prominent feature, PRKAG2 was included on the basis that it causes a metabolic myopathy which is within the scope of this panel and therefore the Green rating will be maintained at this time.Created: 17 Jan 2022, 2:51 p.m. | Last Modified: 17 Jan 2022, 2:51 p.m.
Panel Version: 1.75
Primarily affects cardiac rather than skeletal muscle. Cannot find reports of rhabdomyolysis.Created: 7 Oct 2020, 10:50 p.m. | Last Modified: 7 Oct 2020, 10:50 p.m.
Panel Version: 1.42
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cardiomyopathy, hypertrophic 6 600858; Glycogen storage disease of heart, lethal congenital 261740; Wolff-Parkinson-White syndrome 194200
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiomyopathy, hypertrophic 6 600858; Glycogen storage disease of heart, lethal congenital 261740; Wolff-Parkinson-White syndrome 194200
Publications
Panel promoted to V1 4th January 2017
PRKAG2 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Literature,Radboud University Medical Center, Nijmegen,UKGTN
PRKAG2 was created by sleigh