HSD11B1

hydroxysteroid 11-beta dehydrogenase 1
OMIM: 600713, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Amber HSD11B1 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Cortisone reductase deficiency 2, MIM# 614662