REN

renin
OMIM: 179820, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Red REN in Ductal plate malformation


Version 1.18

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Renal tubular dysgenesis (267430)

Green REN in Tubulointerstitial kidney disease


Version 1.11
Latest signed off version: v1.3 (4 Mar 2020)

Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Renal tubular dysgenesis MIM 267430
    • Familial juvenile Hyperuricemic nephropathy-2 MIM 613092

    Green REN in Unexplained kidney failure in young people

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 1.96

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • Hyperuricemic nephropathy, familial juvenile 2 613092
    • Renal tubular dysgenesis 267430
    • [Hyperproreninemia]

    Green REN in CAKUT

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 1.164

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Renal Tubular Dysgenesis
    • [Hyperproreninemia]

    Green REN in Unexplained paediatric onset end-stage renal disease


    Version 1.20
    Latest signed off version: v1.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • Renal Tubular Dysgenesis
    • Renal tubular dysgenesis 267430
    • [Hyperproreninemia]
    • Hyperuricemic nephropathy, familial juvenile 2613092

    Green REN in Fetal anomalies


    Version 1.717
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE Additional Gene List
    • Expert Review Green
    Phenotypes
    • Renal tubular dysgenesis 267430

    Amber REN in Paediatric disorders - additional genes


    Version 1.94
    Latest signed off version: v1.1 (11 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Other
    Phenotypes
    • CAKUT
    • [Hyperproreninemia]
    • Hyperuricemic nephropathy, familial juvenile 2, 613092
    • Renal tubular dysgenesis, 267430
    Tags
    • for-review

    Green REN in Renal tubulopathies

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 2.27
    Latest signed off version: v2.23 (16 Oct 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Hyperuricemic nephropathy, familial juvenile 2, 613092
    • Renal tubular dysgenesis 267430 AR

    Red REN in Groopman et al 2019 - Genes with diagnostic variants


    Version 0.8

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Expert review red
    • Literature
    Phenotypes
    • Tubulointerstitial disease
    • MIM 613092
    • Autosomal dominant tubulointerstitial kidney disease, REN-associated

    Green REN in Severe Paediatric Disorders


    Version 1.84

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hyperuricemic nephropathy, familial juvenile 2, 613092
    • Renal tubular dysgenesis, 267430