Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Genomic newborn screening: BabyScreen+ v0.1710 PAX3 Zornitza Stark Tag deafness tag was added to gene: PAX3.
Genomic newborn screening: BabyScreen+ v0.747 PAX3 Zornitza Stark Marked gene: PAX3 as ready
Genomic newborn screening: BabyScreen+ v0.747 PAX3 Zornitza Stark Gene: pax3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.747 PAX3 Zornitza Stark Phenotypes for gene: PAX3 were changed from Waardenburg syndrome to Waardenburg syndrome, type 1, OMIM 193500
Genomic newborn screening: BabyScreen+ v0.719 PAX3 David Amor reviewed gene: PAX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome, type 1, OMIM 193500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.0 PAX3 Zornitza Stark gene: PAX3 was added
gene: PAX3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PAX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PAX3 were set to Waardenburg syndrome