Adult onset neurodegenerative disorder
Gene: GBE1
The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 10 Oct 2023, 4:47 p.m. | Last Modified: 10 Oct 2023, 4:47 p.m.
Panel Version: 4.37
Associated with Polyglucosan body disease, adult form (OMIM:263570), but not with this phenotype in Gen2Phen. At least five GBE1 variants have been reported in four cases, this includes the founder variant NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser), which is seen cases as a homozygote and as a compound heterozgote with other GBE1 variants in cases of OMIM:263570 (PMID: 25665141; 10762170).Created: 11 Apr 2023, 5:26 p.m. | Last Modified: 11 Apr 2023, 5:26 p.m.
Panel Version: 4.13
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
APBD can have upper and lower motor neuron involvement, and at least 5 cases in a cohort of 30 were misdiagnosed with ALS.
Sources: Expert listCreated: 27 Sep 2020, 11:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polyglucosan body disease, adult form MIM#263570
Publications
Tag Q2_23_promote_green was removed from gene: GBE1.
Source NHS GMS was added to GBE1. Source Expert Review Green was added to GBE1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_23_promote_green tag was added to gene: GBE1.
Phenotypes for gene: GBE1 were changed from Polyglucosan body disease, adult form, OMIM:263570 to Polyglucosan body disease, adult form, OMIM:263570; adult polyglucosan body disease, MONDO:0009897
Publications for gene: GBE1 were set to 20301758; 26194201
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 Neurodegenerative disorders - 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 20301758; 26194201 Phenotypes for gene: GBE1 were set to Polyglucosan body disease, adult form MIM#263570 Review for gene: GBE1 was set to GREEN