Rhabdomyolysis and metabolic muscle disordersGene: PFKM
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least nine variants reported
Created: 5 Dec 2016, 11:08 a.m.
Publications for PFKM were set to 25929793; 11949936; 8037209
Panel promoted to V1 4th January 2017
This gene has been classified as Green List (High Evidence).
PFKM was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Literature,Radboud University Medical Center, Nijmegen
Model of inheritance for gene PFKM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene PFKM were set to Glycogen storage disease VII 232800
PFKM was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN
PFKM was created by sleigh