Hereditary ataxiaGene: VPS13D
Work published at ESHG 2018 by Maria Dulovic. 3 families with spastic ataxia. Just published 29604224
Created: 5 Jul 2018, 10:08 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS13D were set to
Phenotypes for gene: VPS13D were changed from spastic ataxia to Spinocerebellar ataxia, autosomal recessive 4, 607317
Gene: vps13d has been classified as Green List (High Evidence).
VPS13D was added to Hereditary ataxia panel. Sources: Research
VPS13D was created by Arianna Tucci