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 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hemolytic uremic syndrome, atypical, susceptibility to, 5, OMIM:612925
Green
in Membranoproliferative glomerulonephritis including C3 glomerulopathy
R-numbers: R197
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hemolytic uremic syndrome, atypical, susceptibility to, 5, OMIM:612925, C3 glomerulopathy, C3G
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 6.0
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 young onset end-stage renal disease
R-numbers: R257
Signed-off version 5.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
C3 deficiency 613779 AR, {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 AD