Rhabdomyolysis and metabolic muscle disordersGene: AGL
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Glycogen storage disease III
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 15 variants reported.
Created: 2 Dec 2016, 8:57 a.m.
Publications for AGL were set to 25929793; 20648714
Panel promoted to V1 4th January 2017
This gene has been classified as Green List (High Evidence).
Publications for AGL were set to 25929793
AGL was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Model of inheritance for gene AGL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene AGL were set to Glycogen storage disease IIIa 232400; Glycogen storage disease IIIb 232400
AGL was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN
AGL was created by sleigh