Activity

Filter

Cancel
Date Panel Item Activity
3 actions
Structural eye disease v0.76 IPO13 Nicola Ragge reviewed gene: IPO13: Rating: AMBER; Mode of pathogenicity: ; Publications: 29700284; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 IPO13 Ivone Leong reviewed gene: IPO13: Rating: AMBER; Mode of pathogenicity: ; Publications: 29700284; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.13 IPO13 Ivone Leong gene: IPO13 was added
gene: IPO13 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: IPO13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IPO13 were set to 29700284