HSD17B3

hydroxysteroid 17-beta dehydrogenase 3
OMIM: 605573, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green HSD17B3 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.293

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pseudohermaphroditism, male, with gynecomastia MIM#264300

Green HSD17B3 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pseudohermaphroditism, male, with gynecomastia MIM#264300

Green HSD17B3 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Pseudohermaphroditism, male, with gynecomastia

Green HSD17B3 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Pseudohermaphroditism, male, with gynecomastia 264300

Red HSD17B3 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.114

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Pseudohermaphroditism, male, with gynecomastia MIM#264300