Genomics England
GMS Panels
Panels
Genes and Entities

CFHR5

complement factor H related 5
OMIM: 608593
PanelMode of inheritanceDetails
2 panels
Green
in Membranoproliferative glomerulonephritis including C3 glomerulopathy
R-numbers: R197
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
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
Green
in Unexplained young onset end-stage renal disease
R-numbers: R257
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Haematuria, macroscopic haematuria, kidney failure, C3 glomerulopathy