Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Genomic newborn screening: BabyScreen+ v0.1190 SLC25A20 Zornitza Stark Tag metabolic tag was added to gene: SLC25A20.
Genomic newborn screening: BabyScreen+ v0.1155 SLC25A20 Seb Lunke Marked gene: SLC25A20 as ready
Genomic newborn screening: BabyScreen+ v0.1155 SLC25A20 Seb Lunke Gene: slc25a20 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1155 SLC25A20 Seb Lunke Publications for gene: SLC25A20 were set to
Genomic newborn screening: BabyScreen+ v0.1154 SLC25A20 Seb Lunke reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Carnitine-acylcarnitine translocase deficiency, MIM# 212138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.268 SLC25A20 Zornitza Stark Tag treatable tag was added to gene: SLC25A20.
Genomic newborn screening: BabyScreen+ v0.268 SLC25A20 Zornitza Stark reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: None; Publications: 33085788, 32885845; Phenotypes: Carnitine-acylcarnitine translocase deficiency, MIM# 212138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 SLC25A20 John Christodoulou reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.0 SLC25A20 Zornitza Stark gene: SLC25A20 was added
gene: SLC25A20 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A20 were set to Carnitine-acylcarnitine translocase deficiency, MIM#212138