Hereditary ataxia with onset in adulthood
Gene: VPS53
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Four families in total across the two papers - three of them are compound het for the same two variants (possible Moroccan founders). Some functional evidence providedCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia 2E, 615851
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: VPS53 were changed from Pontocerebellar hypoplasia 2E (#615851); Pontocerebellar hypoplasia 2E, 615851 to Pontocerebellar hypoplasia 2E, 615851
Gene: vps53 has been classified as Green List (High Evidence).
Added phenotypes Pontocerebellar hypoplasia 2E, 615851 for gene: VPS53
Source NHS GMS was added to VPS53.
Source Wessex and West Midlands GLH was added to VPS53.
Louise Daugherty: Comment on phenotypes: Implica
gene: VPS53 was added gene: VPS53 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,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)