Genomics England
GMS Panels
Panels
Genes and Entities

CFHR1

complement factor H related 1
OMIM: 134371
PanelMode of inheritanceDetails
3 panels
Green
in Atypical haemolytic uraemic syndrome
R-numbers: R201
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hemolytic uremic syndrome, atypical, susceptibility to 235400
Green
in Membranoproliferative glomerulonephritis including C3 glomerulopathy
R-numbers: R197
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
C3 glomerulopathy, C3G, Immune complex MPGN, IC-MPGN, Hemolytic uremic syndrome, atypical, susceptibility to, 235400, Immune-complex-mediated MPGN
Green
in Unexplained young onset end-stage renal disease
R-numbers: R257
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
IC-MPGN, Immune-complex-mediated MPGN, C3 glomerulopathy, Immune complex MPGN, Hemolytic uremic syndrome, atypical, susceptibility to, 235400, C3G