Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Genomic newborn screening: BabyScreen+ v0.1494 PTF1A Zornitza Stark Marked gene: PTF1A as ready
Genomic newborn screening: BabyScreen+ v0.1494 PTF1A Zornitza Stark Gene: ptf1a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1494 PTF1A Zornitza Stark Tag treatable tag was added to gene: PTF1A.
Tag gastrointestinal tag was added to gene: PTF1A.
Genomic newborn screening: BabyScreen+ v0.1494 PTF1A Zornitza Stark reviewed gene: PTF1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pancreatic agenesis 2, MIM# 615935, Pancreatic and cerebellar agenesis, MIM# 609069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.0 PTF1A Zornitza Stark gene: PTF1A was added
gene: PTF1A was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTF1A were set to Pancreatic and cerebellar agenesis, MIM# 609069; Pancreatic agenesis 2, MIM# 615935