Differences in sex development
Gene: HSD3B2

HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2)
EnsemblGeneIds (GRCh38): ENSG00000203859
EnsemblGeneIds (GRCh37): ENSG00000203859
OMIM: 613890, Gene2Phenotype
HSD3B2 is in 2 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 29 Apr 2019, 9:46 a.m.

Created: 29 Apr 2019, 9:46 a.m.

Panel version: 1.32

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least ten variants reported
Created: 12 Sep 2016, 9:14 a.m.

Created: 12 Sep 2016, 9:14 a.m.

Panel version: 0.155

John Achermann (UCL Institute of Child Health)

Green List (high evidence)

In 46,XY child usually causes underandrogenization so has hypospadias or atypical genitalia, Often has primary adrenal insufficiency, salt losing in about 50% of cases. A 46,XX child may have mild clitoromegaly due to effects of DHEA, or no genital changes, but also at risk of primary adrenal insufficiency.
Created: 4 Feb 2016, 12:43 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Variable androgenization differences in 46,XY and 46,XX children, with variable adrenal insufficiency

Created: 4 Feb 2016, 12:43 p.m.

Panel version: 0.40

Details

Mode of Inheritance

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

OMIM

613890

Clinvar variants

Variants in HSD3B2

Penetrance

Complete

Panels with this gene