Activity

Filter

Cancel
Date Panel Item Activity
7 actions
BabyScreen+ newborn screening v0.1053 ALDH7A1 Zornitza Stark Tag metabolic tag was added to gene: ALDH7A1.
BabyScreen+ newborn screening v0.38 ALDH7A1 Zornitza Stark Marked gene: ALDH7A1 as ready
BabyScreen+ newborn screening v0.38 ALDH7A1 Zornitza Stark Gene: aldh7a1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.38 ALDH7A1 Zornitza Stark Publications for gene: ALDH7A1 were set to
BabyScreen+ newborn screening v0.37 ALDH7A1 Zornitza Stark Tag treatable tag was added to gene: ALDH7A1.
BabyScreen+ newborn screening v0.37 ALDH7A1 Zornitza Stark reviewed gene: ALDH7A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33200442; Phenotypes: Epilepsy, pyridoxine-dependent, MIM# 266100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.0 ALDH7A1 Zornitza Stark gene: ALDH7A1 was added
gene: ALDH7A1 was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green
Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH7A1 were set to Epilepsy, pyridoxine-dependent, MIM# 266100