Disorders of sex developmentGene: HSD3B2
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.
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.
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
Variable androgenization differences in 46,XY and 46,XX children, with variable adrenal insufficiency
HSD3B2 was added to Disorders of sex developmentpanel. Sources: Eligibility statement prior genetic testing
Promoted to V1 21/12/2016
This gene has been classified as Green List (High Evidence).
Phenotypes for gene HSD3B2 were set to Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN); Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, 201810
HSD3B2 was added to Disorders of sex developmentpanel. Source: Illumina TruGenome Clinical Sequencing Services
HSD3B2 was added to Disorders of sex developmentpanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene HSD3B2 was set to BIALLELIC, autosomal or pseudoautosomal
HSD3B2 was created by ellenmcdonagh
HSD3B2 was added to Disorders of sex developmentpanel. Sources: UKGTN