Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Mendeliome v0.13747 CTNNA1 Ain Roesley Marked gene: CTNNA1 as ready
Mendeliome v0.13747 CTNNA1 Ain Roesley Gene: ctnna1 has been classified as Green List (High Evidence).
Mendeliome v0.13747 CTNNA1 Ain Roesley Phenotypes for gene: CTNNA1 were changed from to Macular dystrophy, butterfly-shaped pigmentary, 2, MIM# 608970; Familial exudative vitreoretinopathy MONDO#0019516, CTNNA1-related
Mendeliome v0.13746 CTNNA1 Ain Roesley Publications for gene: CTNNA1 were set to
Mendeliome v0.13746 CTNNA1 Ain Roesley Mode of inheritance for gene: CTNNA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13745 CTNNA1 Ain Roesley reviewed gene: CTNNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26691986, 33497368; Phenotypes: Macular dystrophy, butterfly-shaped pigmentary, 2, MIM# 608970, Familial exudative vitreoretinopathy MONDO#0019516, CTNNA1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.0 CTNNA1 Zornitza Stark gene: CTNNA1 was added
gene: CTNNA1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CTNNA1 was set to Unknown