REN

PanelMode of inheritanceDetails
5 panels
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Renal tubular dysgenesis 267430
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
CAKUT, [Hyperproreninemia], Hyperuricemic nephropathy, familial juvenile 2, 613092, Renal tubular dysgenesis, 267430
R-numbers: R198
Signed-off version 3.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hyperuricemic nephropathy, familial juvenile 2, 613092, Renal tubular dysgenesis 267430 AR
R-numbers: R202
Signed-off version 2.2
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
R-numbers: R257
Signed-off version 2.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Renal Tubular Dysgenesis, Renal tubular dysgenesis 267430, [Hyperproreninemia], Hyperuricemic nephropathy, familial juvenile 2613092