Activity

Filter

Cancel
Date Panel Item Activity
4 actions
Structural eye disease v0.76 PEX3 Nicola Ragge reviewed gene: PEX3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 10A (Zellweger), 603164; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.49 PEX3 Ivone Leong edited their review of gene: PEX3: Changed phenotypes: Peroxisome biogenesis disorder 10A (Zellweger), 603164
Structural eye disease v0.39 PEX3 Ivone Leong reviewed gene: PEX3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 2B, 202370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.13 PEX3 Ivone Leong gene: PEX3 was added
gene: PEX3 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX3 were set to Peroxisome biogenesis disorder 10A (Zellweger), 603164