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 Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735
  • MONDO:0008329

Green NR3C2 in Hypertension and Aldosterone disorders


Level 2: Renal and urinary tract disorders; Endocrine disorders
Version 1.14

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735
  • MONDO:0008329

Green NR3C2 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • BeginNGS
Phenotypes
  • Pseudohypoaldosteronism type I, autosomal dominant , MIM#177735
Tags
  • treatable
  • endocrine

Green NR3C2 in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 1.14

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • KidGen_AldoHypertension v38.1.0
    • Expert Review Green
    • KidGen_AldoHypertension v38.1.0
    Phenotypes
    • Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735
    • MONDO:0008329