Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Palmoplantar keratodermas v3.27 PEX7 Achchuthan Shanmugasundram Tag Q1_24_demote_red was removed from gene: PEX7.
Palmoplantar keratodermas v3.27 PEX7 Achchuthan Shanmugasundram reviewed gene: PEX7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v3.26 PEX7 Achchuthan Shanmugasundram Source Expert Review Red was added to PEX7.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Palmoplantar keratodermas v3.24 PEX7 Sarah Leigh Tag Q1_24_demote_red tag was added to gene: PEX7.
Palmoplantar keratodermas v3.24 PEX7 Sarah Leigh reviewed gene: PEX7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Palmoplantar keratodermas v1.3 PEX7 Zornitza Stark reviewed gene: PEX7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 9B (AR), Rhizomelic chondrodysplasia punctata, type 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratodermas v0.5 PEX7 Rebecca Foulger Source London North GLH was added to PEX7.
Palmoplantar keratodermas v0.4 PEX7 Rebecca Foulger reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.3 PEX7 Rebecca Foulger gene: PEX7 was added
gene: PEX7 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX7 were set to Refsum disease