C3

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, 5, 612925
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
R-numbers: R15
Signed-off version 2.1
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
R-numbers: R257
Signed-off version 1.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
C3 deficiency 613779 AR, {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 AD