Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Fetal anomalies v0.745 CYP11A1 Zornitza Stark edited their review of gene: CYP11A1: Changed publications: 12161514, 16705068, 18182448, 28425981
Fetal anomalies v0.745 CYP11A1 Zornitza Stark Marked gene: CYP11A1 as ready
Fetal anomalies v0.745 CYP11A1 Zornitza Stark Gene: cyp11a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.745 CYP11A1 Zornitza Stark Phenotypes for gene: CYP11A1 were changed from Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete 613743 to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743
Fetal anomalies v0.744 CYP11A1 Zornitza Stark Publications for gene: CYP11A1 were set to 28425981
Fetal anomalies v0.743 CYP11A1 Zornitza Stark reviewed gene: CYP11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12161514, 16705068, 18182448; Phenotypes: Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.0 CYP11A1 Zornitza Stark gene: CYP11A1 was added
gene: CYP11A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CYP11A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP11A1 were set to 28425981
Phenotypes for gene: CYP11A1 were set to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete 613743