1. Genes and Genomic Entities
  2. HSD17B3

HSD17B3

hydroxysteroid 17-beta dehydrogenase 3
OMIM: 605573, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green HSD17B3 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
  • Expert Review Green
  • Emory Genetics Laboratory
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Gender Assignment Gene Panel (UKGTN)
  • Pseudohermaphroditism, male, with gynecomastia, 264300
Green HSD17B3 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE Additional Gene List
  • Expert Review Green
Phenotypes
  • Pseudohermaphroditism, male, with gynecomastia 264300