Rhabdomyolysis and metabolic muscle disorders
Gene: GYG1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease XV
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 6 variants reportedCreated: 4 Jan 2017, 11:54 a.m.
Phenotypes
muscle cramps and rhabdomyolysis phenotype
Publications for GYG1 were set to 20357282; 25272951; 27544502; 26652229; 26255073
Panel promoted to V1 4th January 2017
GYG1 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Radboud University Medical Center, Nijmegen
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for GYG1 were set to 20357282; 25272951; 27544502; 26652229
Phenotypes for GYG1 were set to ?Glycogen storage disease XV 613507; Polyglucosan body myopathy 2 616199
Phenotypes for GYG1 were set to ?Glycogen storage disease XV 613507; Polyglucosan body myopathy 2 616199
Mode of inheritance for GYG1 was changed to BIALLELIC, autosomal or pseudoautosomal
GYG1 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN
GYG1 was created by sleigh