Genomics England
GMS Panels
Panels
Genes and Entities

C3

complement C3
OMIM: 120700
PanelMode of inheritanceDetails
4 panels
Green
in Atypical haemolytic uraemic syndrome
R-numbers: R201
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hemolytic uremic syndrome, atypical, susceptibility to, 5, 612925
Green
in Membranoproliferative glomerulonephritis
R-numbers: R197
Signed-off version 2.13
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Haemolytic uraemic syndrome, aHUS, Hemolytic uremic syndrome, atypical, susceptibility to, 5,612925, C3 glomerulopathy, C3G, C3 deficiency, 613779, Immune complex MPGN, IC-MPGN
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
C3 deficiency, 613779, Complement component 3 deficiency, Infections, glomerulonephritis, atypical hemolytic-uremic syndrome with GOF mutations, Atypical hemolytic-uremic syndrome, dense deposit disease, Complement Deficiencies
Green
in Unexplained paediatric onset end-stage renal disease
R-numbers: R257
Signed-off version 2.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
C3 deficiency 613779 AR, {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 AD