Rhabdomyolysis and metabolic muscle disorders
Gene: GYS1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease 0, muscle
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 four variants reported in three cases (two homozygote and one compound heterozygote). Supportive in vitro studies reported and considerable evidence of GYS1 variants in equine rhabdomyolysisCreated: 5 Dec 2016, 10:34 a.m.
Comment on publications: PMID 21958591 reports compound heterozygous variants in one fatal case, in vitro studies includedCreated: 5 Dec 2016, 10:31 a.m.
Phenotypes for gene: GYS1 were changed from Glycogen storage disease 0, muscle 611556 to Glycogen storage disease 0, muscle, OMIM:611556
Publications for GYS1 were set to 27604308; 24579562; 21958591; 19699667; 17928598
Panel promoted to V1 4th January 2017
This gene has been classified as Green List (High Evidence).
Publications for GYS1 were set to 27604308; 24579562; 21958591
Publications for GYS1 were set to 27604308; 24579562; 21958591
Publications for GYS1 were set to 27604308; 24579562
GYS1 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Literature
Model 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
GYS1 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN
GYS1 was created by sleigh