Activity

Filter

Cancel
Date Panel Item Activity
7 actions
BabyScreen+ newborn screening v0.1687 CYP11B2 Zornitza Stark Tag endocrine tag was added to gene: CYP11B2.
BabyScreen+ newborn screening v0.529 CYP11B2 Zornitza Stark Marked gene: CYP11B2 as ready
BabyScreen+ newborn screening v0.529 CYP11B2 Zornitza Stark Gene: cyp11b2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.529 CYP11B2 Zornitza Stark Tag treatable tag was added to gene: CYP11B2.
BabyScreen+ newborn screening v0.529 CYP11B2 Zornitza Stark reviewed gene: CYP11B2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600).; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.523 CYP11B2 John Christodoulou reviewed gene: CYP11B2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: primary hyperaldosteronism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.0 CYP11B2 Zornitza Stark gene: CYP11B2 was added
gene: CYP11B2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: CYP11B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP11B2 were set to Hypoaldosteronism, congenital, due to CMO I deficiency, MIM# 203400; Hypoaldosteronism, congenital, due to CMO II deficiency, MIM# 610600