Activity

Filter

Cancel
Date Panel Item Activity
6 actions
BabyScreen+ newborn screening v0.951 EPS8L2 Zornitza Stark Marked gene: EPS8L2 as ready
BabyScreen+ newborn screening v0.951 EPS8L2 Zornitza Stark Gene: eps8l2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.951 EPS8L2 Zornitza Stark Classified gene: EPS8L2 as Red List (low evidence)
BabyScreen+ newborn screening v0.951 EPS8L2 Zornitza Stark Gene: eps8l2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.950 EPS8L2 Zornitza Stark reviewed gene: EPS8L2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness autosomal recessive 106, MIM# 617637; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.0 EPS8L2 Zornitza Stark gene: EPS8L2 was added
gene: EPS8L2 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: EPS8L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPS8L2 were set to Deafness, MIM#617637