Panel | Mode of inheritance | Details |
---|---|---|
5 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, 1 235400 |
R-numbers: R197 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes C3 glomerulopathy, C3G, Immune complex MPGN, IC-MPGN, Hemolytic uremic syndrome, atypical, susceptibility to, 1, 235400, Dense Deposit Disease, Membranoproliferative Glomerulonephritis Type II, Immune-complex-mediated MPGN |
R-numbers: R15 Signed-off version 4.123 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Complement factor H deficiency, 609814, Infections, disseminated neisserial infections, atypical Hemolytic-uremic syndrome, preeclampsia, dense deposit disease, Complement Deficiencies |
Green in Retinal disordersR-numbers: R32 Signed-off version 4.42 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes {Macular degeneration, age-related, 4} 610698, Basal laminar drusen, 126700 |
R-numbers: R257 Signed-off version 3.11 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to, 1} 235400, Complement factor H deficiency 609814 |