Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Renal tubular dysgenesis 267430 |
Component of the following Super Panels:
Signed-off version 6.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes CAKUT, [Hyperproreninemia], Hyperuricemic nephropathy, familial juvenile 2, 613092, Renal tubular dysgenesis, 267430 |
Green in Renal tubulopathiesComponent of the following Super Panels:
R-numbers: R198 Signed-off version 4.18 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Hyperuricemic nephropathy, familial juvenile 2, 613092, Renal tubular dysgenesis 267430 AR |
Green in Tubulointerstitial kidney diseaseComponent of the following Super Panels:
R-numbers: R202 Signed-off version 3.4 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Renal tubular dysgenesis MIM 267430, Familial juvenile Hyperuricemic nephropathy-2 MIM 613092 |