Neurodegenerative disorders - adult onsetGene: VPS53
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Only mouse model reported, mutations not identified in patients.
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Pontocerebellar hypoplasia 2E, 615851
Source NHS GMS was added to VPS53.
Source Yorkshire and North East GLH was added to VPS53.
Rebecca Foulger: Gene awaiting curator evaluati
gene: VPS53 was added gene: VPS53 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS53 were set to 24577744 Phenotypes for gene: VPS53 were set to Pontocerebellar hypoplasia 2E (#615851)