Atypical Haemolytic Uraemic Syndrome_MPGN

Gene: CFHR5

Green List (high evidence)

Review provided by Danny Gale (UCL):

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.

Progressive condition, haematuria may manifest after infections.

Created: 19 Apr 2022, 2:44 a.m. | Last Modified: 19 Apr 2022, 2:44 a.m.

Panel Version: 0.13059

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Nephropathy due to CFHR5 deficiency, MIM#614809

Publications

• 30844074
• 30197990
• 24067434
• 21566112
• 20800271
• 27490940
• 24334459

Variants in this GENE are reported as part of current diagnostic practice