Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Cerebellar and Pontocerebellar Hypoplasia v0.169 BRF1 Zornitza Stark Marked gene: BRF1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.169 BRF1 Zornitza Stark Gene: brf1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.169 BRF1 Zornitza Stark Phenotypes for gene: BRF1 were changed from to Cerebellofaciodental syndrome, MIM# 616202
Cerebellar and Pontocerebellar Hypoplasia v0.168 BRF1 Zornitza Stark Publications for gene: BRF1 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.167 BRF1 Zornitza Stark Mode of inheritance for gene: BRF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.166 BRF1 Zornitza Stark reviewed gene: BRF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25561519, 25561519, 27748960; Phenotypes: Cerebellofaciodental syndrome, MIM# 616202; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.0 BRF1 Zornitza Stark gene: BRF1 was added
gene: BRF1 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BRF1 was set to Unknown