Genomics England
GMS Panels
Panels
Genes and Entities

CFB

complement factor B
OMIM: 138470
PanelMode of inheritanceDetails
3 panels
Green
in Atypical haemolytic uraemic syndrome
R-numbers: R201
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hemolytic uremic syndrome, atypical, susceptibility to, 4 612924
Green
in Membranoproliferative glomerulonephritis including C3 glomerulopathy
R-numbers: R197
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Haemolytic uraemic syndrome, aHUS, Hemolytic uremic syndrome, atypical, susceptibility to, 4, 612924, C3 glomerulopathy, C3G, Immune complex MPGN, IC-MPGN, MPGN, Membranoproliferative glomerulonephritis
Green
in Unexplained young onset end-stage renal disease
R-numbers: R257
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hemolytic uremic syndrome, atypical, susceptibility to, 4 612924