Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BabyScreen+ newborn screening v0.190 | ATP8B1 | Zornitza Stark Marked gene: ATP8B1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.190 | ATP8B1 | Zornitza Stark Gene: atp8b1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.190 | ATP8B1 | Zornitza Stark Phenotypes for gene: ATP8B1 were changed from Cholestasis, progressive familial intrahepatic 1 to Cholestasis, progressive familial intrahepatic 1, MIM# 211600; Cholestasis, benign recurrent intrahepatic, MIM# 243300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.189 | ATP8B1 | Zornitza Stark Classified gene: ATP8B1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.189 | ATP8B1 | Zornitza Stark Gene: atp8b1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.188 | ATP8B1 | Zornitza Stark reviewed gene: ATP8B1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholestasis, progressive familial intrahepatic 1, MIM# 211600, Cholestasis, benign recurrent intrahepatic, MIM# 243300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.0 | ATP8B1 |
Zornitza Stark gene: ATP8B1 was added gene: ATP8B1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP8B1 were set to Cholestasis, progressive familial intrahepatic 1 |