Activity

Filter

Cancel
Date Panel Item Activity
2 actions
Unexplained young onset end-stage renal disease v0.2 NUP93 Eleanor Williams reviewed gene: NUP93: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.1 NUP93 Eleanor Williams gene: NUP93 was added
gene: NUP93 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: NUP93 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP93 were set to 26878725
Phenotypes for gene: NUP93 were set to Nephrotic syndrome, type 12 616892