Adult onset hereditary spastic paraplegia
Gene: GBE1The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 14 Mar 2022, 1:19 p.m. | Last Modified: 14 Mar 2022, 1:19 p.m.
Panel Version: 1.95
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM. There is enough evidence to support a gene-disease association. Transgenic homozygous mice also display late-onset spastic paraplegia. GBE1 should be rated Green at the next review.Created: 26 Aug 2021, 11:48 a.m. | Last Modified: 26 Aug 2021, 11:53 a.m.
Panel Version: 1.65
Spastic paraplegia is a reported as a prominent feature of the condition in 45/50 cases diagnosed with adult polyglucosan body disease.
Sources: Expert listCreated: 20 Sep 2020, 8:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polyglucosan body disease, adult form MIM#263570
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q3_21_rating was removed from gene: GBE1.
Source Expert Review Green was added to GBE1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: GBE1 were set to 23034915
Tag Q3_21_rating tag was added to gene: GBE1.
Gene: gbe1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: GBE1 were changed from Polyglucosan body disease, adult form MIM#263570 to Polyglucosan body disease, adult form, OMIM:263570
gene: GBE1 was added gene: GBE1 was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBE1 were set to 23034915 Phenotypes for gene: GBE1 were set to Polyglucosan body disease, adult form MIM#263570 Review for gene: GBE1 was set to GREEN gene: GBE1 was marked as current diagnostic