Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Anophthalmia_Microphthalmia_Coloboma v0.177 GJA1 Zornitza Stark Marked gene: GJA1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.177 GJA1 Zornitza Stark Gene: gja1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.177 GJA1 Zornitza Stark Phenotypes for gene: GJA1 were changed from to Oculodentodigital dysplasia, autosomal recessive, MIM# 257850; Oculodentodigital dysplasia, MIM# 164200
Anophthalmia_Microphthalmia_Coloboma v0.176 GJA1 Zornitza Stark Publications for gene: GJA1 were set to
Anophthalmia_Microphthalmia_Coloboma v0.175 GJA1 Zornitza Stark Mode of inheritance for gene: GJA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.174 GJA1 Zornitza Stark reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19338053; Phenotypes: Oculodentodigital dysplasia, autosomal recessive, MIM# 257850, Oculodentodigital dysplasia, MIM# 164200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.0 GJA1 Zornitza Stark gene: GJA1 was added
gene: GJA1 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GJA1 was set to Unknown