CFH

complement factor H
OMIM: 134370
PanelMode of inheritanceDetails
5 panels
R-numbers: R201
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hemolytic uremic syndrome, atypical, susceptibility to, 1 235400
R-numbers: R197
Signed-off version 2.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
C3 glomerulopathy, C3G, Immune complex MPGN, IC-MPGN, Hemolytic uremic syndrome, atypical, susceptibility to, 1, 235400, Dense Deposit Disease, Membranoproliferative Glomerulonephritis Type II, Immune-complex-mediated MPGN
R-numbers: R15
Signed-off version 2.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Complement factor H deficiency, 609814, Infections, disseminated neisserial infections, atypical Hemolytic-uremic syndrome, preeclampsia, dense deposit disease, Complement Deficiencies
R-numbers: R32, R33, R34, R35
Signed-off version 2.195
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
{Macular degeneration, age-related, 4} 610698, Basal laminar drusen, 126700
R-numbers: R257
Signed-off version 1.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
{Hemolytic uremic syndrome, atypical, susceptibility to, 1} 235400, Complement factor H deficiency 609814