Inherited white matter disorders
Gene: GBE1Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer. More than 3 cases with different variants reported in OMIM for Polyglucosan body disease, adult form). On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 for Polyglucosan Body Disease (PGBD).
Created: 16 Aug 2016, 11:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: GBE1 were changed from Polyglucosan Body Disease (PGBD); General Leukodystrophy & Mitochondrial Leukoencephalopathy; Polyglucosan body disease, adult form to Polyglucosan body disease, adult form, OMIM:263570; General Leukodystrophy & Mitochondrial Leukoencephalopathy
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Green List (High Evidence).
Phenotypes for GBE1 were set to Polyglucosan Body Disease (PGBD); General Leukodystrophy & Mitochondrial Leukoencephalopathy;Polyglucosan body disease, adult form
Phenotypes for GBE1 were set to Polyglucosan Body Disease (PGBD);General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications for GBE1 were set to 25655951
This gene has been classified as Green List (High Evidence).
This gene has been removed from the panel.
GBE1 was created by [email protected]
GBE1 was added to Inherited white matter disorderspanel. Sources: Expert list