| Panel | Mode of inheritance | Details |
|---|---|---|
4 panels | ||
Green in Atypical haemolytic uraemic syndromeR-numbers: R201 Signed-off version 3.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 3, OMIM:612923, Complement factor I deficiency, OMIM:610984 |
R-numbers: R197 Signed-off version 3.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes C3 glomerulopathy, C3G, Immune complex MPGN, IC-MPGN, Immune-complex-mediated MPGN, Hemolytic uremic syndrome, atypical, susceptibility to, 3,612923 |
R-numbers: R15 Signed-off version 4.123 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Complement factor I deficiency, 610984, {Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923, {Macular degeneration, age-related, 13, susceptibility to}, 615439, Complement factor I deficiency, C3b inactivator deficiency, Factor I deficiency, Immunodeficiency with factor I anomaly, Infections, disseminated neisserial infections, atypical Hemolytic-uremic syndrome, preeclampsia, Complement Deficiencies |
R-numbers: R257 Signed-off version 3.11 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 3 612923, Complement factor I deficiency, OMIM:610984 |