Adult onset neurodegenerative disorder

Gene: GBE1

Green List (high evidence)

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

Green List (high evidence)

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 list

Created: 27 Sep 2020, 11:37 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polyglucosan body disease, adult form MIM#263570

Publications

• 20301758
• 26194201