1. Genes and Genomic Entities
  2. NR3C2

NR3C2

nuclear receptor subfamily 3 group C member 2
OMIM: 600983, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green NR3C2 in Extreme early-onset hypertension

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.21

Component of the following Super Panels:

  • Renal superpanel - broad

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    • Literature
    Phenotypes
    • Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115
    Red NR3C2 in Autism


    Version 0.36

    		review Not set
    Sources
    • Expert Review Red
    • SFARI
    Amber NR3C2 in Unexplained young onset end-stage renal disease


    Version 3.41
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Amber
    Phenotypes
    • Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 no inheritance pattern
    • Pseudohypoaldosteronism type I, autosomal dominant, 177735
    Tags
    • Q4_23_promote_green
    Green NR3C2 in Renal tubulopathies

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 4.17
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Pseudohypoaldosteronism type I, autosomal dominant, 177735
    • Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 no inheritance pattern