Rhabdomyolysis and metabolic muscle disorders
Gene: ALDOA
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease XII
Publications
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 5 variants reported.Created: 1 Dec 2016, 4:40 p.m.
Phenotypes for gene: ALDOA were changed from Glycogen storage disease XII 611881 to Glycogen storage disease XII, OMIM:611881
Publications for ALDOA were set to 25929793; 25392908; 14615364; 2825199; 8598869
Panel promoted to V1 4th January 2017
This gene has been classified as Green List (High Evidence).
Publications for ALDOA were set to 25929793; 25392908; 14615364; 2825199
ALDOA was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Model of inheritance for gene ALDOA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene ALDOA were set to Glycogen storage disease XII 611881
ALDOA was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN
ALDOA was created by sleigh