Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Mendeliome v0.412 TBC1D8B Zornitza Stark Marked gene: TBC1D8B as ready
Mendeliome v0.412 TBC1D8B Zornitza Stark Gene: tbc1d8b has been classified as Green List (High Evidence).
Mendeliome v0.412 TBC1D8B Zornitza Stark Phenotypes for gene: TBC1D8B were changed from to Nephrotic syndrome, type 20, MIM# 301028
Mendeliome v0.411 TBC1D8B Zornitza Stark Publications for gene: TBC1D8B were set to
Mendeliome v0.409 TBC1D8B Zornitza Stark Mode of inheritance for gene: TBC1D8B was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.408 TBC1D8B Zornitza Stark reviewed gene: TBC1D8B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30661770; Phenotypes: Nephrotic syndrome, type 20, MIM# 301028; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.0 TBC1D8B Zornitza Stark gene: TBC1D8B was added
gene: TBC1D8B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBC1D8B was set to Unknown