Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Intellectual disability syndromic and non-syndromic v0.6601 SLC33A1 Zornitza Stark Marked gene: SLC33A1 as ready
Intellectual disability syndromic and non-syndromic v0.6601 SLC33A1 Zornitza Stark Gene: slc33a1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6601 SLC33A1 Zornitza Stark Phenotypes for gene: SLC33A1 were changed from to Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482
Intellectual disability syndromic and non-syndromic v0.6601 SLC33A1 Zornitza Stark Publications for gene: SLC33A1 were set to 31194315
Intellectual disability syndromic and non-syndromic v0.6600 SLC33A1 Zornitza Stark Publications for gene: SLC33A1 were set to
Intellectual disability syndromic and non-syndromic v0.6599 SLC33A1 Zornitza Stark Mode of inheritance for gene: SLC33A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6598 SLC33A1 Zornitza Stark reviewed gene: SLC33A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31194315; Phenotypes: Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 SLC33A1 Zornitza Stark gene: SLC33A1 was added
gene: SLC33A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC33A1 was set to Unknown