Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Intellectual disability syndromic and non-syndromic v0.2858 FOLR1 Zornitza Stark Marked gene: FOLR1 as ready
Intellectual disability syndromic and non-syndromic v0.2858 FOLR1 Zornitza Stark Gene: folr1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2858 FOLR1 Zornitza Stark Phenotypes for gene: FOLR1 were changed from to Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068
Intellectual disability syndromic and non-syndromic v0.2857 FOLR1 Zornitza Stark Publications for gene: FOLR1 were set to
Intellectual disability syndromic and non-syndromic v0.2856 FOLR1 Zornitza Stark Mode of inheritance for gene: FOLR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2855 FOLR1 Zornitza Stark reviewed gene: FOLR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19732866, 30420205, 27743887; Phenotypes: Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 FOLR1 Zornitza Stark gene: FOLR1 was added
gene: FOLR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: FOLR1 was set to Unknown