Rhabdomyolysis and metabolic muscle disorders
Gene: GBE1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease type IV; adult polyglucosan body disease
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. Numerous variants reportedCreated: 5 Dec 2016, 10:11 a.m.
Comment on phenotypes: Also associated with Polyglucosan body disease, adult form 263570Created: 5 Dec 2016, 10:10 a.m.
Phenotypes for gene: GBE1 were changed from Glycogen storage disease IV 232500 to Glycogen storage disease IV, OMIM:232500
Publications for GBE1 were set to 15452297; 20058079
Panel promoted to V1 4th January 2017
This gene has been classified as Green List (High Evidence).
Phenotypes for GBE1 were set to Glycogen storage disease IV 232500
Phenotypes for GBE1 were set to Glycogen storage disease IV 232500;
GBE1 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Model of inheritance for gene GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene GBE1 were set to Glycogen storage disease IV 232500; Polyglucosan body disease, adult form 263570
GBE1 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN
GBE1 was created by sleigh