Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Anophthalmia_Microphthalmia_Coloboma v1.17 ANK3 Ain Roesley Marked gene: ANK3 as ready
Anophthalmia_Microphthalmia_Coloboma v1.17 ANK3 Ain Roesley Gene: ank3 has been classified as Amber List (Moderate Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.17 ANK3 Ain Roesley Classified gene: ANK3 as Amber List (moderate evidence)
Anophthalmia_Microphthalmia_Coloboma v1.17 ANK3 Ain Roesley Gene: ank3 has been classified as Amber List (Moderate Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.16 ANK3 Ain Roesley gene: ANK3 was added
gene: ANK3 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: ANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANK3 were set to 35034853
Phenotypes for gene: ANK3 were set to coloboma MONDO#0001476, ANK3-related
Review for gene: ANK3 was set to AMBER
gene: ANK3 was marked as current diagnostic
Added comment: 2 unrelated families with missense - 1x de novo and 1x unknown inheritance

zebrafish KO model
Sources: Literature