Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Intellectual disability syndromic and non-syndromic v0.817 NAGS Zornitza Stark Marked gene: NAGS as ready
Intellectual disability syndromic and non-syndromic v0.817 NAGS Zornitza Stark Gene: nags has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.817 NAGS Zornitza Stark Phenotypes for gene: NAGS were changed from to N-acetylglutamate synthase deficiency, MIM#237310
Intellectual disability syndromic and non-syndromic v0.816 NAGS Zornitza Stark Mode of inheritance for gene: NAGS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.815 NAGS Zornitza Stark Classified gene: NAGS as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.815 NAGS Zornitza Stark Gene: nags has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.814 NAGS Zornitza Stark reviewed gene: NAGS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: N-acetylglutamate synthase deficiency, MIM#237310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 NAGS Zornitza Stark gene: NAGS was added
gene: NAGS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NAGS was set to Unknown