1. Genes and Genomic Entities
  2. HSD11B2

HSD11B2

hydroxysteroid 11-beta dehydrogenase 2
OMIM: 614232, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green HSD11B2 in Extreme early-onset hypertension

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.23

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Apparent mineralocorticoid excess, OMIM:218030
  • apparent mineralocorticoid excess, MONDO:0009025
Amber HSD11B2 in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • ClinGen
    Phenotypes
    • Apparent mineralocorticoid excess, OMIM:218030
    • apparent mineralocorticoid excess, MONDO:0009025
    Tags
    • Q3_25_promote_green