Activity

Filter

Cancel
Date Panel Item Activity
15 actions
Genomic newborn screening: BabyScreen+ v0.1698 G6PC3 Zornitza Stark Tag immunological tag was added to gene: G6PC3.
Genomic newborn screening: BabyScreen+ v0.1698 G6PC Zornitza Stark Tag metabolic tag was added to gene: G6PC.
Genomic newborn screening: BabyScreen+ v0.782 G6PC3 Zornitza Stark Tag treatable tag was added to gene: G6PC3.
Genomic newborn screening: BabyScreen+ v0.782 G6PC3 Zornitza Stark Marked gene: G6PC3 as ready
Genomic newborn screening: BabyScreen+ v0.782 G6PC3 Zornitza Stark Gene: g6pc3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.591 G6PC Zornitza Stark Marked gene: G6PC as ready
Genomic newborn screening: BabyScreen+ v0.591 G6PC Zornitza Stark Gene: g6pc has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.591 G6PC Zornitza Stark Publications for gene: G6PC were set to
Genomic newborn screening: BabyScreen+ v0.590 G6PC Zornitza Stark Tag treatable tag was added to gene: G6PC.
Genomic newborn screening: BabyScreen+ v0.590 G6PC Zornitza Stark reviewed gene: G6PC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease Ia, MIM# 232200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.583 G6PC John Christodoulou reviewed gene: G6PC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25356975; Phenotypes: hypoglycaemia, IUGR, hepatomegaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.490 G6PC3 Alison Yeung reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Genomic newborn screening: BabyScreen+ v0.485 G6PC Alison Yeung reviewed gene: G6PC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease Ia, MIM# 232200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.0 G6PC3 Zornitza Stark gene: G6PC3 was added
gene: G6PC3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: G6PC3 were set to Neutropaenia, congenital, MIM#612541
Genomic newborn screening: BabyScreen+ v0.0 G6PC Zornitza Stark gene: G6PC was added
gene: G6PC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: G6PC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: G6PC were set to Glycogen storage disease Ia, MIM#232200