Haematuria_VCGS_KidGen_1
Gene: CFHR5
4 independent mutations described in >30 families (most with one mutation that is endemic in people of Cypriot ancestry) causing haematuria and C3 glomerulopathy. Pathogenic mutations result in duplications of exons 2 and 3 of CFHR5, or a CFHR5-CFHR2 hybrid elongated gene to be produced. Other mutations (eg missense or truncating mutations) have NOT been robustly linked with disease and are probably not pathogenic: the disease is caused by a gain-of-function mechanism.Created: 10 Jan 2020, 9:48 a.m. | Last Modified: 10 Jan 2020, 9:48 a.m.
Panel Version: 0.1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Haematuria; renal insufficiency; proteinuria; acute kidney injury; C3 glomerulopathy
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
Variants in this GENE are reported as part of current diagnostic practice
gene: CFHR5 was added gene: CFHR5 was added to Haematuria_VCGS_KidGen_1. Sources: Victorian Clinical Genetics Services,Expert Review Red Mode of inheritance for gene: CFHR5 was set to Unknown