Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Mendeliome v0.12362 | TJP2 | Zornitza Stark Marked gene: TJP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.12362 | TJP2 | Zornitza Stark Gene: tjp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.12362 | TJP2 | Zornitza Stark Phenotypes for gene: TJP2 were changed from to Cholestasis, progressive familial intrahepatic 4, MIM# 615878; Hypercholanemia, familial 1, MIM# 607748 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.12361 | TJP2 | Zornitza Stark Publications for gene: TJP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.12360 | TJP2 | Zornitza Stark Mode of inheritance for gene: TJP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.12359 | TJP2 | Zornitza Stark reviewed gene: TJP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24614073, 25921221, 31696999, 12704386; Phenotypes: Cholestasis, progressive familial intrahepatic 4, MIM# 615878, Hypercholanemia, familial 1, MIM# 607748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.0 | TJP2 |
Zornitza Stark gene: TJP2 was added gene: TJP2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TJP2 was set to Unknown |