Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in Atypical haemolytic uraemic syndromeR-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 |