Activity

Filter

Cancel
Date Panel Item Activity
2 actions
Eye Anterior Segment Abnormalities v1.20 Bryony Thompson Copied gene ELP4 from panel Mendeliome
Eye Anterior Segment Abnormalities v1.20 ELP4 Bryony Thompson gene: ELP4 was added
gene: ELP4 was added to Eye Anterior Segment Abnormalities. Sources: Expert Review Green,Literature
Mode of inheritance for gene: ELP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ELP4 were set to 24290376; 17679951; 22991255; 26010655
Phenotypes for gene: ELP4 were set to ocular dysgenesis caused by defects in PAX6 regulation MONDO:0700246
Mode of pathogenicity for gene: ELP4 was set to Other