Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 18 Aug 2016, 2:07 p.m.
Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.
Created: 5 Nov 2015, 5:19 p.m.
Increased ammonia with exercise
Created: 5 Nov 2015, 4:51 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
McArdle disease, Glycogen storage disease 5, Muscle phosphorylase deficiency
Promoted to version 1 on 22nd November 2016
This gene has been classified as Green List (High Evidence).
Mode of inheritance for PYGM was changed to BIALLELIC, autosomal or pseudoautosomal
PYGM was added to Hyperammonaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for PYGM were set to McArdle disease 232600
PYGM was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory