CFI

complement factor I
OMIM: 217030
PanelMode of inheritanceDetails
4 panels
R-numbers: R201
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hemolytic uremic syndrome, atypical, susceptibility to, 3 612923
R-numbers: R197
Signed-off version 2.13
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
R-numbers: R15
Signed-off version 2.1
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
R-numbers: R257
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hemolytic uremic syndrome, atypical, susceptibility to, 3 612923