1. Genes and Genomic Entities
  2. HSD3B2

HSD3B2

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
OMIM: 613890, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red HSD3B2 in Congenital adrenal hypoplasia


Level 2: Endocrinology
Version 4.11
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Adrenal hyperplasia, Congenital, Due To 3-beta-Hydroxysteroid Dehydrogenase Deficiency type 2 with or without salt-loss
  • variabe effects on sex steroid synthesis
  • Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency 201810
Green HSD3B2 in Differences in sex development


Level 2: Endocrinology
Version 4.14
Latest signed off version: v4.5 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN)
  • Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, 201810