CFHR5

complement factor H related 5
OMIM: 608593
PanelMode of inheritanceDetails
2 panels
R-numbers: R197
Signed-off version 2.13
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
C3 glomerulopathy, C3G, Immune complex MPGN, IC-MPGN, Nephropathy due to CFHR5 deficiency,614809, Immune-complex-mediated MPGN, CFHR5 nephropathy
R-numbers: R257
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Haematuria, macroscopic haematuria, kidney failure, C3 glomerulopathy