Ketotic hypoglycaemiaGene: GBE1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBE1 were changed from failure to thrive in addition to hepatomegaly van have neuromuscular adult form ( polyglucosan body ideas which presents with neurogenic bladder, gait difficulties; Glycogen storage disease IV, 232500; Polyglucosan body disease, adult form, 263570; Glycogen Storage Disease Type IV; Glycogen Storage Disorders- Liver; Glycogen Storage Disorders- Muscle; Glycogen Storage Disease to Glycogen storage disease IV, OMIM:232500; Polyglucosan body disease, adult form, OMIM:263570
This gene has been classified as Green List (High Evidence).
This proposed gene was validated and added to this panel
GBE1 was added to Ketotic hypoglycaemiapanel. Sources: Literature