NR3C1:Ensemblv90

nuclear receptor subfamily 3 group C member 1
OMIM: 138040, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green NR3C1 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.27

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glucocorticoid resistance (MIM#615962)

Green NR3C1 in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glucocorticoid resistance, OMIM # 615962

Green NR3C1 in Hypertension and Aldosterone disorders


Level 2: Renal and urinary tract disorders; Endocrine disorders
Version 1.17

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Glucocorticoid resistance, OMIM # 615962

    Green NR3C1 in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 1.22

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • 2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • Expert Review Green
    • Literature
    • KidGen_MetabolicRenal v38.1.0
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Glucocorticoid resistance, OMIM # 615962

    Green NR3C1 in Differences of Sex Development


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Glucocorticoid resistance (MIM#615962)

    Green NR3C1 in Hypertension and Aldosterone disorders


    Level 2: Renal and urinary tract disorders; Endocrine disorders
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Glucocorticoid resistance, OMIM # 615962

    Green NR3C1 in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 2.0

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • KidGen_MetabolicRenal v38.1.0
    • Literature
    • Expert Review Green
    • Literature
    • Expert Review Green
    Phenotypes
    • Glucocorticoid resistance, OMIM # 615962