NR3C2

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green NR3C2 in Mendeliome


Version 2.0

1 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 2.0

1 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 Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

2 reviews 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 2.0

1 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