Leukodystrophy - adult onset

Gene: GBE1

Green List (high evidence)

GBE1 (1,4-alpha-glucan branching enzyme 1)
EnsemblGeneIds (GRCh38): ENSG00000114480
EnsemblGeneIds (GRCh37): ENSG00000114480
OMIM: 607839, Gene2Phenotype
GBE1 is in 20 panels

1 review

Kaitlyn Dianna Weldon (University of Melbourne)

Green List (high evidence)

a well-established phenotype of GBE1 related diseases is white matter changes
Created: 12 Sep 2023, 11:51 p.m. | Last Modified: 12 Sep 2023, 11:51 p.m.
Panel Version: 0.109

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
adult polyglucosan body disease MONDO:0009897

Publications

History Filter Activity

30 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: GBE1 was added gene: GBE1 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GBE1 were set to Polyglucosan body disease, adult form, 263570