Genomics England
GMS Panels
Panels
Genes and Entities

REN

renin
OMIM: 179820
PanelMode of inheritanceDetails
5 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Renal tubular dysgenesis 267430
Green
in Paediatric disorders - additional genes
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
CAKUT, [Hyperproreninemia], Hyperuricemic nephropathy, familial juvenile 2, 613092, Renal tubular dysgenesis, 267430
Green
in Renal tubulopathies
R-numbers: R198
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hyperuricemic nephropathy, familial juvenile 2, 613092, Renal tubular dysgenesis 267430 AR
Green
in Tubulointerstitial kidney disease
R-numbers: R202
Signed-off version 3.0
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
Green
in Unexplained young onset end-stage renal disease
R-numbers: R257
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Renal Tubular Dysgenesis, Renal tubular dysgenesis 267430, [Hyperproreninemia], Hyperuricemic nephropathy, familial juvenile 2613092