Rhabdomyolysis and Metabolic Myopathy
Gene: GYG1
Multiple individuals reported with both conditions, affecting primarily skeletal muscle.Created: 10 May 2022, 3:01 a.m. | Last Modified: 10 May 2022, 3:01 a.m.
Panel Version: 0.14010
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polyglucosan body myopathy 2, MIM# 616199; Glycogen storage disease XV , MIM# 613507
Publications
>3 cases reported with myopathy as a prominent feature. Exercise intolerance also reported.
Sources: Expert listCreated: 12 Feb 2020, 5:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease XV MIM#613507; Polyglucosan body myopathy 2 MIM#616199
Publications
Gene: gyg1 has been classified as Green List (High Evidence).
Publications for gene: GYG1 were set to
gene: GYG1 was added gene: GYG1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: GYG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GYG1 were set to ?Glycogen storage disease XV 613507; Polyglucosan body myopathy 2 616199