Rhabdomyolysis and metabolic muscle disordersGene: PGAM2
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least four variants reported three cases
Created: 5 Dec 2016, 11:10 a.m.
Publications for PGAM2 were set to 25929793; 8447317; 19273759
Panel promoted to V1 4th January 2017
This gene has been classified as Green List (High Evidence).
PGAM2 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Literature
Model of inheritance for gene PGAM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene PGAM2 were set to Glycogen storage disease X 261670
PGAM2 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN
PGAM2 was created by sleigh