Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Peroxisomal Disorders v0.39 PEX5 Zornitza Stark Marked gene: PEX5 as ready
Peroxisomal Disorders v0.39 PEX5 Zornitza Stark Gene: pex5 has been classified as Green List (High Evidence).
Peroxisomal Disorders v0.39 PEX5 Zornitza Stark Phenotypes for gene: PEX5 were changed from to Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110; Peroxisome biogenesis disorder 2B, MIM# 202370; Rhizomelic chondrodysplasia punctata, type 5, MIM# 616716
Peroxisomal Disorders v0.38 PEX5 Zornitza Stark Publications for gene: PEX5 were set to
Peroxisomal Disorders v0.37 PEX5 Zornitza Stark Mode of inheritance for gene: PEX5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Peroxisomal Disorders v0.36 PEX5 Zornitza Stark reviewed gene: PEX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 7719337, 26220973, 20301621; Phenotypes: Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110, Peroxisome biogenesis disorder 2B, MIM# 202370, Rhizomelic chondrodysplasia punctata, type 5, MIM# 616716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Peroxisomal Disorders v0.0 PEX5 Zornitza Stark gene: PEX5 was added
gene: PEX5 was added to Peroxisomal Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX5 was set to Unknown