C3

PanelMode of inheritanceDetails
4 panels
R-numbers: R201
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hemolytic uremic syndrome, atypical, susceptibility to, 5, OMIM:612925
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
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
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