Activity

Filter

Cancel
Date Panel Item Activity
10 actions
BabyScreen+ newborn screening v0.2101 SP7 Zornitza Stark Marked gene: SP7 as ready
BabyScreen+ newborn screening v0.2101 SP7 Zornitza Stark Gene: sp7 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.2101 SP7 Zornitza Stark Phenotypes for gene: SP7 were changed from Osteogenesis imperfecta, type XII to Osteogenesis imperfecta, type XII, MIM# 613849
BabyScreen+ newborn screening v0.2100 SP7 Zornitza Stark Publications for gene: SP7 were set to
BabyScreen+ newborn screening v0.2099 SP7 Zornitza Stark Mode of inheritance for gene: SP7 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.2098 SP7 Zornitza Stark Classified gene: SP7 as Amber List (moderate evidence)
BabyScreen+ newborn screening v0.2098 SP7 Zornitza Stark Gene: sp7 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.2097 SP7 Zornitza Stark Tag skeletal tag was added to gene: SP7.
BabyScreen+ newborn screening v0.2097 SP7 Zornitza Stark reviewed gene: SP7: Rating: AMBER; Mode of pathogenicity: None; Publications: 36881265; Phenotypes: Osteogenesis imperfecta, type XII, MIM# 613849; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.0 SP7 Zornitza Stark gene: SP7 was added
gene: SP7 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SP7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SP7 were set to Osteogenesis imperfecta, type XII