Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Cerebellar and Pontocerebellar Hypoplasia v0.210 VPS53 Zornitza Stark Marked gene: VPS53 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.210 VPS53 Zornitza Stark Gene: vps53 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.210 VPS53 Zornitza Stark Phenotypes for gene: VPS53 were changed from to Pontocerebellar hypoplasia, type 2E, MIM# 615851
Cerebellar and Pontocerebellar Hypoplasia v0.209 VPS53 Zornitza Stark Publications for gene: VPS53 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.208 VPS53 Zornitza Stark Mode of inheritance for gene: VPS53 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.207 VPS53 Zornitza Stark Tag founder tag was added to gene: VPS53.
Cerebellar and Pontocerebellar Hypoplasia v0.207 VPS53 Zornitza Stark reviewed gene: VPS53: Rating: GREEN; Mode of pathogenicity: None; Publications: 24577744, 30100179; Phenotypes: Pontocerebellar hypoplasia, type 2E, MIM# 615851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.0 VPS53 Zornitza Stark gene: VPS53 was added
gene: VPS53 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VPS53 was set to Unknown