HSD17B3

hydroxysteroid 17-beta dehydrogenase 3
OMIM: 605573, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green HSD17B3 in Disorders of sex development

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Eligibility statement prior genetic testing
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Gender Assignment Gene Panel (UKGTN)
  • Pseudohermaphroditism, male, with gynecomastia, 264300
Green HSD17B3 in Fetal anomalies


Version 3.136
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE Additional Gene List
  • Expert Review Green
Phenotypes
  • Pseudohermaphroditism, male, with gynecomastia 264300
Green HSD17B3 in Severe Paediatric Disorders


Version 1.182

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Pseudohermaphroditism, male, with gynecomastia, 264300