Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Fetal anomalies v0.706 CRYBB2 Zornitza Stark Marked gene: CRYBB2 as ready
Fetal anomalies v0.706 CRYBB2 Zornitza Stark Gene: crybb2 has been classified as Green List (High Evidence).
Fetal anomalies v0.706 CRYBB2 Zornitza Stark Phenotypes for gene: CRYBB2 were changed from CATARACT, COPPOCK-LIKE; CATARACT, CONGENITAL, CERULEAN TYPE, 2 to Cataract 3, multiple types, MIM# 601547
Fetal anomalies v0.705 CRYBB2 Zornitza Stark Publications for gene: CRYBB2 were set to
Fetal anomalies v0.704 CRYBB2 Zornitza Stark Mode of inheritance for gene: CRYBB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.703 CRYBB2 Zornitza Stark reviewed gene: CRYBB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 9158139, 10634616, 11424921, 17234267; Phenotypes: Cataract 3, multiple types, MIM# 601547; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.0 CRYBB2 Zornitza Stark gene: CRYBB2 was added
gene: CRYBB2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CRYBB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRYBB2 were set to CATARACT, COPPOCK-LIKE; CATARACT, CONGENITAL, CERULEAN TYPE, 2