Eleanor Williams Mode of pathogenicity for gene: CFHR5 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Daniel Gale reviewed gene: CFHR5: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 20800271, 21566112, 30844074, 28729035, 32928961, 24067434, 27490940, 33753502, 30197990, 24067434; Phenotypes: Haematuria, C3 glomerulopathy, Chronic Kidney Disease, Proteinuria, End stage renal disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Eleanor Williams Phenotypes for gene: CFH were changed from Complement factor H deficiency 609814; {Hemolytic uremic syndrome, atypical, susceptibility to, 1} 235400 to Complement factor H deficiency 609814; {Hemolytic uremic syndrome, atypical, susceptibility to, 1} 235400