Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Mendeliome v0.6365 CHMP1A Zornitza Stark Marked gene: CHMP1A as ready
Mendeliome v0.6365 CHMP1A Zornitza Stark Gene: chmp1a has been classified as Green List (High Evidence).
Mendeliome v0.6365 CHMP1A Zornitza Stark Phenotypes for gene: CHMP1A were changed from to Pontocerebellar hypoplasia, type 8, MIM# 614961
Mendeliome v0.6364 CHMP1A Zornitza Stark Publications for gene: CHMP1A were set to
Mendeliome v0.6363 CHMP1A Zornitza Stark Mode of inheritance for gene: CHMP1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6362 CHMP1A Zornitza Stark reviewed gene: CHMP1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23023333; Phenotypes: Pontocerebellar hypoplasia, type 8, MIM# 614961; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.0 CHMP1A Zornitza Stark gene: CHMP1A was added
gene: CHMP1A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHMP1A was set to Unknown