Activity

Filter

Cancel
Date Panel Item Activity
9 actions
BabyScreen+ newborn screening v1.114 TPRN Tommy Li Added phenotypes Deafness, autosomal recessive 79, MIM# 613307 for gene: TPRN
BabyScreen+ newborn screening v0.1793 TPRN Zornitza Stark Marked gene: TPRN as ready
BabyScreen+ newborn screening v0.1793 TPRN Zornitza Stark Gene: tprn has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1793 TPRN Zornitza Stark Phenotypes for gene: TPRN were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 79, MIM# 613307
BabyScreen+ newborn screening v0.1792 TPRN Zornitza Stark Classified gene: TPRN as Green List (high evidence)
BabyScreen+ newborn screening v0.1792 TPRN Zornitza Stark Gene: tprn has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1791 TPRN Zornitza Stark Tag deafness tag was added to gene: TPRN.
BabyScreen+ newborn screening v0.1791 TPRN Zornitza Stark reviewed gene: TPRN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 79, MIM# 613307; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.0 TPRN Zornitza Stark gene: TPRN was added
gene: TPRN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TPRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPRN were set to Deafness, autosomal recessive