Activity

Filter

Cancel
Date Panel Item Activity
2 actions
Unexplained young onset end-stage renal disease v0.2 CHD1L Eleanor Williams reviewed gene: CHD1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.1 CHD1L Eleanor Williams gene: CHD1L was added
gene: CHD1L was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: CHD1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHD1L were set to 24429398; 22146311
Phenotypes for gene: CHD1L were set to ORPHA93545; Renal or urinary tract malformation (CAKUT)