Rhabdomyolysis and metabolic muscle disordersGene: PYGM
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. Over 20 variants reported
Created: 5 Dec 2016, 11:54 a.m.
Publications for PYGM were set to 25929793; 16786513; 8316268
Panel promoted to V1 4th January 2017
This gene has been classified as Green List (High Evidence).
PYGM was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Literature,Radboud University Medical Center, Nijmegen
Model of inheritance for gene PYGM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene PYGM were set to Glycogen storage disease V McArdle disease 232600 AR
PYGM was added to Rhabdomyolysis and metabolic muscle disorders panel. Sources: Emory Genetics Laboratory