Activity

Filter

Cancel
Date Panel Item Activity
6 actions
BabyScreen+ newborn screening v0.1396 RPS19 Zornitza Stark Marked gene: RPS19 as ready
BabyScreen+ newborn screening v0.1396 RPS19 Zornitza Stark Gene: rps19 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1396 RPS19 Zornitza Stark Tag treatable tag was added to gene: RPS19.
Tag haematological tag was added to gene: RPS19.
BabyScreen+ newborn screening v0.1396 RPS19 Zornitza Stark edited their review of gene: RPS19: Changed phenotypes: Diamond-Blackfan anaemia 1, MIM# 105650
BabyScreen+ newborn screening v0.1396 RPS19 Zornitza Stark reviewed gene: RPS19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.0 RPS19 Zornitza Stark gene: RPS19 was added
gene: RPS19 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS19 were set to Diamond-Blackfan anaemia, MIM#105650