Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Genomic newborn screening: BabyScreen+ v0.638 CHKB Zornitza Stark Marked gene: CHKB as ready
Genomic newborn screening: BabyScreen+ v0.638 CHKB Zornitza Stark Gene: chkb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.638 CHKB Zornitza Stark Phenotypes for gene: CHKB were changed from Muscular dystrophy, congenital, megaconial type to Muscular dystrophy, congenital, megaconial type, MIM# 602541
Genomic newborn screening: BabyScreen+ v0.637 CHKB Zornitza Stark Classified gene: CHKB as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.637 CHKB Zornitza Stark Gene: chkb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.636 CHKB Zornitza Stark reviewed gene: CHKB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, congenital, megaconial type, MIM# 602541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.0 CHKB Zornitza Stark gene: CHKB was added
gene: CHKB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type