Rhabdomyolysis and metabolic muscle disordersGene: PGM1
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 9 variants reported.
Created: 5 Dec 2016, 11:12 a.m.
Publications for PGM1 were set to 25929793; 19625727; 22492991
Panel promoted to V1 4th January 2017
This gene has been classified as Green List (High Evidence).
PGM1 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Literature,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Model of inheritance for gene PGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene PGM1 were set to Congenital disorder of glycosylation, type It 614921
PGM1 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN
PGM1 was created by sleigh