Activity

Filter

Cancel
Date Panel Item Activity
4 actions
Unexplained young onset end-stage renal disease v3.21 STRADA Achchuthan Shanmugasundram reviewed gene: STRADA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.17 STRADA Achchuthan Shanmugasundram gene: STRADA was added
gene: STRADA was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: STRADA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STRADA were set to Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087
Unexplained young onset end-stage renal disease v0.2 AMN Eleanor Williams reviewed gene: AMN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.1 AMN Eleanor Williams gene: AMN was added
gene: AMN was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: AMN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMN were set to 12590260
Phenotypes for gene: AMN were set to Megaloblastic anemia-1, Norwegian type 261100