Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
R-numbers: R15 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes SEC61A1 deficiency, Severe recurrent respiratory tract infections, Hyperuricemic nephropathy, familial juvenile, 4, 617056, Predominantly Antibody Deficiencies, Hypogammaglobulinaemia, Severe congenital neutropenia |
Green in Renal tubulopathiesR-numbers: R198 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes hyporeninaemic hypoaldosteronism, autosomal dominant tubulointerstitial kidney disease |
Green in Tubulointerstitial kidney diseaseR-numbers: R202 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Familial juvenile Hyperuricemic nephropathy-4 , OMIM:617056 |
R-numbers: R257 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Hyperuricemic nephropathy, familial juvenile, 4 617056 |