Genomics England
GMS Panels
Panels
Genes and Entities

CFH

complement factor H
OMIM: 134370
PanelMode of inheritanceDetails
5 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, 1 235400
Green
in Membranoproliferative glomerulonephritis including C3 glomerulopathy
R-numbers: R197
Signed-off version 3.0
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
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 4.0
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
Green
in Retinal disorders
R-numbers: R32
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
{Macular degeneration, age-related, 4} 610698, Basal laminar drusen, 126700
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
{Hemolytic uremic syndrome, atypical, susceptibility to, 1} 235400, Complement factor H deficiency 609814