Eleanor Williams Phenotypes for gene: CFHR5 were changed from Haematuria; C3 glomerulopathy; kidney failure; macroscopic haematuria; Nephropathy due to CFHR5 deficiency #614809 to Nephropathy due to CFHR5 deficiency OMIM:614809
Eleanor Williams Phenotypes for gene: CFHR5 were changed from Haematuria; C3 glomerulopathy; kidney failure; macroscopic haematuria to Haematuria; C3 glomerulopathy; kidney failure; macroscopic haematuria; Nephropathy due to CFHR5 deficiency #614809
Eleanor Williams Added comment: Comment on list classification: Promoting to Amber after discussion with NHS GMS renal specialist group on 2019-02-04. Newcastle group report that they had 1 family with a variant in this gene.
Eleanor Williams reviewed gene: CFHR5: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID:23402027; Phenotypes: Nephropathy due to CFHR5 deficiency #614809; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted