Activity

Filter

Cancel
Date Panel Item Activity
6 actions
BabyScreen+ newborn screening v0.1250 IL2RG Zornitza Stark Marked gene: IL2RG as ready
BabyScreen+ newborn screening v0.1250 IL2RG Zornitza Stark Gene: il2rg has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1250 IL2RG Zornitza Stark edited their review of gene: IL2RG: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
BabyScreen+ newborn screening v0.1250 IL2RG Zornitza Stark Tag treatable tag was added to gene: IL2RG.
Tag immunological tag was added to gene: IL2RG.
BabyScreen+ newborn screening v0.1250 IL2RG Zornitza Stark reviewed gene: IL2RG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency, X-linked MIM# 300400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.0 IL2RG Zornitza Stark gene: IL2RG was added
gene: IL2RG was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: IL2RG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IL2RG were set to Severe combined immunodeficiency, X-linked, MIM#312863