Unexplained kidney failure in young people
Gene: CFHR5Comment on list classification: Promoting to green in light of external review and the fact that it is already green on the 'Unexplained paediatric onset end-stage renal disease' panel.Created: 12 Apr 2022, 4:40 p.m. | Last Modified: 12 Apr 2022, 4:40 p.m.
Panel Version: 1.111
Copy number variants leading to internal duplications or hybrid genes that make elongated CFHR5 proteins cause C3 glomerulopathy via a gain-of-function mechanism (PMID: 32928961; 28729035; 27490940; 33753502). If kidney biopsy is not performed (eg if patient presents with advanced kidney damage) this can present with unexplained end stage kidney disease, typically in males between age 35 and 65. The disease is milder in women (PMID: 20800271; 21566112; 30844074) so AD inheritance may not be apparent. The disease is endemic in Cypriots (PMID: 20800271; 30197990) but is also reported in individual families without Cypriot ancestry (PMID: 24067434; 27490940).
Loss of function or missense variants of this gene are not established causes of kidney disease.Created: 7 Apr 2022, 1:08 p.m. | Last Modified: 7 Apr 2022, 1:08 p.m.
Panel Version: 1.106
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Haematuria; C3 glomerulopathy; Chronic Kidney Disease; Proteinuria; End stage renal disease
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Phenotypes for gene: CFHR5 were changed from Haematuria; C3 glomerulopathy; kidney failure; macroscopic haematuria to C3 glomerulopathy; C3G; Immune complex MPGN; IC-MPGN; Nephropathy due to CFHR5 deficiency, OMIM:614809; Immune-complex-mediated MPGN; CFHR5 nephropathy; Haematuria; Chronic Kidney Disease; Proteinuria; End stage renal disease
Publications for gene: CFHR5 were set to PubMed: 20800271; 24067434
Gene: cfhr5 has been classified as Green List (High Evidence).
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
Promoted to version 1 17th August 2016
CFHR5 was created by sleigh
CFHR5 was added to Unexplained kidney failure in young peoplepanel. Sources: Literature,Expert Review,Expert Review Red