Rhabdomyolysis and metabolic muscle disordersGene: GAA
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 18 variants reported.
Created: 2 Dec 2016, 11:38 a.m.
Publications for GAA were set to 25929793; 14695532; 18425781
Panel promoted to V1 4th January 2017
This gene has been classified as Green List (High Evidence).
GAA was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Emory Genetics Laboratory,Literature,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Model of inheritance for gene GAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene GAA were set to Glycogen storage disease II 232300
GAA was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN
GAA was created by sleigh