Hereditary ataxiaGene: VPS53
Comment on list classification: Await further data before promote to green - single pair of variants in one population reported to date
Created: 11 Jul 2016, 9:08 p.m.
Fine. PCH2E, reasonable evidence
Created: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Pontocerebellar hypoplasia 2E (#615851)
Variants in this GENE are reported as part of current diagnostic practice
Publications for VPS53 were set to 24577744
This gene has been classified as Red List (Low Evidence).
VPS53 was added to Hereditary ataxiapanel. Sources: Expert Review
VPS53 was created by jonathan.williams