Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Intellectual disability syndromic and non-syndromic v0.3278 COG5 Zornitza Stark Marked gene: COG5 as ready
Intellectual disability syndromic and non-syndromic v0.3278 COG5 Zornitza Stark Gene: cog5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3278 COG5 Zornitza Stark Phenotypes for gene: COG5 were changed from to Congenital disorder of glycosylation, type IIi, MIM# 613612
Intellectual disability syndromic and non-syndromic v0.3277 COG5 Zornitza Stark Publications for gene: COG5 were set to
Intellectual disability syndromic and non-syndromic v0.3276 COG5 Zornitza Stark Mode of inheritance for gene: COG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3275 COG5 Zornitza Stark reviewed gene: COG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23228021, 31572517, 32174980; Phenotypes: Congenital disorder of glycosylation, type IIi, MIM# 613612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 COG5 Zornitza Stark gene: COG5 was added
gene: COG5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: COG5 was set to Unknown