Activity

Filter

Cancel
Date Panel Item Activity
8 actions
BabyScreen+ newborn screening v1.114 SLC25A15 Tommy Li Added phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, MIM#238970 for gene: SLC25A15
BabyScreen+ newborn screening v0.1714 SLC25A15 Zornitza Stark Tag treatable tag was added to gene: SLC25A15.
Tag metabolic tag was added to gene: SLC25A15.
BabyScreen+ newborn screening v0.1632 SLC25A15 John Christodoulou reviewed gene: SLC25A15: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22649802; Phenotypes: dev delay, encephalopathy, seizures, ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1151 SLC25A15 Seb Lunke Marked gene: SLC25A15 as ready
BabyScreen+ newborn screening v0.1151 SLC25A15 Seb Lunke Gene: slc25a15 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1151 SLC25A15 Seb Lunke Publications for gene: SLC25A15 were set to
BabyScreen+ newborn screening v0.1150 SLC25A15 Seb Lunke reviewed gene: SLC25A15: Rating: ; Mode of pathogenicity: None; Publications: 22649802; Phenotypes: Hyperornithinaemia-hyperammonaemia-homocitrullinaemia syndrome , MIM#238970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.0 SLC25A15 Zornitza Stark gene: SLC25A15 was added
gene: SLC25A15 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, MIM#238970