Genomics England
GMS Panels
Panels
Genes and Entities

CFI

complement factor I
OMIM: 217030
PanelMode of inheritanceDetails
3 panels
Green
in Atypical haemolytic uraemic syndrome
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R201
Signed-off version 3.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hemolytic uremic syndrome, atypical, susceptibility to, 3, OMIM:612923, Complement factor I deficiency, OMIM:610984
Green
in Membranoproliferative glomerulonephritis including C3 glomerulopathy
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R197
Signed-off version 3.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
C3 glomerulopathy, C3G, Immune complex MPGN, IC-MPGN, Immune-complex-mediated MPGN, Hemolytic uremic syndrome, atypical, susceptibility to, 3,612923
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Complement factor I deficiency, 610984, {Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923, {Macular degeneration, age-related, 13, susceptibility to}, 615439, Complement factor I deficiency, C3b inactivator deficiency, Factor I deficiency, Immunodeficiency with factor I anomaly, Infections, disseminated neisserial infections, atypical Hemolytic-uremic syndrome, preeclampsia, Complement Deficiencies