Glycogen Storage Diseases
Gene: GBE1
Glycogen storage disease type IV is a clinically heterogeneous disorder. The typical 'classic' hepatic presentation is liver disease of childhood, progressing to lethal cirrhosis. The neuromuscular presentation of GSD IV is distinguished by age at onset into 4 groups: perinatal, presenting as fetal akinesia deformation sequence (FADS) and perinatal death; congenital, with hypotonia, neuronal involvement, and death in early infancy; childhood, with myopathy or cardiomyopathy; and adult, with isolated myopathy or adult polyglucosan body disease.
Established gene-disease association.Created: 25 Feb 2021, 10:07 a.m. | Last Modified: 25 Feb 2021, 10:07 a.m.
Panel Version: 0.46
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease IV, MIM# 232500
Publications
Gene: gbe1 has been classified as Green List (High Evidence).
Phenotypes for gene: GBE1 were changed from to Glycogen storage disease IV, MIM# 232500
Publications for gene: GBE1 were set to
Mode of inheritance for gene: GBE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: GBE1 was added gene: GBE1 was added to Glycogen Storage Diseases_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GBE1 was set to Unknown