Rhabdomyolysis and Metabolic Myopathy
Gene: GYS1
Can present in childhood with syncope or cardiac arrest after relatively trivial exercise. Skeletal myopathy may be present. Muscle biopsy will often demonstrate a paucity of stored glycogen and often a proliferation of mitochondria.Created: 30 Sep 2020, 9:56 a.m. | Last Modified: 30 Sep 2020, 9:56 a.m.
Panel Version: 0.4676
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease 0, muscle, MIM# 611556
Publications
At least 3 unrelated cases/families reported, and pathogenic variants in the gene causes polysaccharide storage myopathy in horses.
Sources: Expert listCreated: 12 Feb 2020, 5:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease 0, muscle MIM#611556
Publications
Gene: gys1 has been classified as Green List (High Evidence).
Publications for gene: GYS1 were set to
gene: GYS1 was added gene: GYS1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: GYS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GYS1 were set to Glycogen storage disease 0, muscle 611556