HSD11B2

hydroxysteroid 11-beta dehydrogenase 2
OMIM: 614232, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green HSD11B2 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Apparent mineralocorticoid excess, MIM# 218030
  • MONDO:0009025

Green HSD11B2 in Hypertension and Aldosterone disorders


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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Apparent mineralocorticoid excess, MIM# 218030
  • MONDO:0009025

Green HSD11B2 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Apparent mineralocorticoid excess, MIM# 218030
  • MONDO:0009025
Tags
  • treatable
  • endocrine

Green HSD11B2 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_AldoHypertension v38.1.0
    • Expert Review Green
    • KidGen_AldoHypertension v38.1.0
    Phenotypes
    • MONDO:0009025
    • Apparent mineralocorticoid excess, MIM# 218030