Activity

Filter

Cancel
Date Panel Item Activity
7 actions
BabyScreen+ newborn screening v0.1710 MUSK Zornitza Stark Tag neurological tag was added to gene: MUSK.
BabyScreen+ newborn screening v0.384 MUSK Zornitza Stark Marked gene: MUSK as ready
BabyScreen+ newborn screening v0.384 MUSK Zornitza Stark Gene: musk has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.384 MUSK Zornitza Stark Tag treatable tag was added to gene: MUSK.
BabyScreen+ newborn screening v0.384 MUSK Zornitza Stark reviewed gene: MUSK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, MIM# 616325; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.274 MUSK David Amor reviewed gene: MUSK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital myasthenic syndrome-9; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.0 MUSK Zornitza Stark gene: MUSK was added
gene: MUSK was added to gNBS. Sources: BeginNGS:BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUSK were set to Congenital myasthenic syndrome, MIM#616325