Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Intellectual disability syndromic and non-syndromic v0.6283 FUCA1 Bryony Thompson Marked gene: FUCA1 as ready
Intellectual disability syndromic and non-syndromic v0.6283 FUCA1 Bryony Thompson Gene: fuca1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6283 FUCA1 Bryony Thompson Phenotypes for gene: FUCA1 were changed from to Fucosidosis MONDO:0009254
Intellectual disability syndromic and non-syndromic v0.6282 FUCA1 Bryony Thompson Publications for gene: FUCA1 were set to
Intellectual disability syndromic and non-syndromic v0.6281 FUCA1 Bryony Thompson Mode of inheritance for gene: FUCA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6280 FUCA1 Bryony Thompson reviewed gene: FUCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33266441; Phenotypes: Fucosidosis MONDO:0009254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.0 FUCA1 Zornitza Stark gene: FUCA1 was added
gene: FUCA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FUCA1 was set to Unknown