HSD11B2

hydroxysteroid 11-beta dehydrogenase 2
OMIM: 614232, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green HSD11B2 in Mendeliome


Version 1.2374

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 1.15

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • 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 1.116

    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 1.18

    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