Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Mendeliome v0.5185 COG8 Zornitza Stark Marked gene: COG8 as ready
Mendeliome v0.5185 COG8 Zornitza Stark Gene: cog8 has been classified as Green List (High Evidence).
Mendeliome v0.5185 COG8 Zornitza Stark Phenotypes for gene: COG8 were changed from to Congenital disorder of glycosylation, type IIh, MIM# 611182
Mendeliome v0.5184 COG8 Zornitza Stark Publications for gene: COG8 were set to
Mendeliome v0.5183 COG8 Zornitza Stark reviewed gene: COG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 17220172, 28619360; Phenotypes: Congenital disorder of glycosylation, type IIh, MIM# 611182; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5183 COG8 Zornitza Stark Mode of inheritance for gene: COG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5174 COG8 Elena Savva reviewed gene: COG8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30690882, 17331980; Phenotypes: Congenital disorder of glycosylation, type IIh 611182; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.0 COG8 Zornitza Stark gene: COG8 was added
gene: COG8 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COG8 was set to Unknown