Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Mendeliome v0.12457 SLC2A9 Zornitza Stark Marked gene: SLC2A9 as ready
Mendeliome v0.12457 SLC2A9 Zornitza Stark Gene: slc2a9 has been classified as Green List (High Evidence).
Mendeliome v0.12457 SLC2A9 Zornitza Stark Phenotypes for gene: SLC2A9 were changed from to Hypouricaemia, renal, 2, MIM# 612076
Mendeliome v0.12456 SLC2A9 Zornitza Stark Publications for gene: SLC2A9 were set to
Mendeliome v0.12455 SLC2A9 Zornitza Stark Mode of inheritance for gene: SLC2A9 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.12454 SLC2A9 Zornitza Stark reviewed gene: SLC2A9: Rating: GREEN; Mode of pathogenicity: None; Publications: 19026395, 19926891, 21810765, 25966807, 21256783; Phenotypes: Hypouricaemia, renal, 2, MIM# 612076; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.0 SLC2A9 Zornitza Stark gene: SLC2A9 was added
gene: SLC2A9 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC2A9 was set to Unknown