Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Genomic newborn screening: BabyScreen+ v0.1712 SLC18A3 Zornitza Stark Tag treatable tag was added to gene: SLC18A3.
Tag neurological tag was added to gene: SLC18A3.
Genomic newborn screening: BabyScreen+ v0.1095 SLC18A3 Seb Lunke Marked gene: SLC18A3 as ready
Genomic newborn screening: BabyScreen+ v0.1095 SLC18A3 Seb Lunke Gene: slc18a3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1095 SLC18A3 Seb Lunke Publications for gene: SLC18A3 were set to
Genomic newborn screening: BabyScreen+ v0.1094 SLC18A3 Seb Lunke reviewed gene: SLC18A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301347; Phenotypes: Myasthenic syndrome, congenital, 21, presynaptic, MIM#617239; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.0 SLC18A3 Zornitza Stark gene: SLC18A3 was added
gene: SLC18A3 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC18A3 were set to Myasthenic syndrome, congenital, 21, presynaptic, MIM# 617239