Differences in sex development
Gene: HSD17B3
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 and G2P / DD. Numerous variants reported.Created: 12 Sep 2016, 9:08 a.m.
Quite a common cause of severe undervirilization of 46,XY child, but can have milder variants. Most common in middle east and consanguineous populations, with some founder effects and hotspots for mutations (p.R80, also splice). May "change" from female to male at puberty in small number of individuals or may first present at adolescence as a girl who is androgenizing.Created: 4 Feb 2016, 12:39 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Variable undervirilization of 46,XY child.
Phenotypes from UKGTN and OMIM. Mode of inheritance sourced from OMIM.Created: 11 Jan 2016, 10:40 a.m.
Promoted to V1 21/12/2016
This gene has been classified as Green List (High Evidence).
Phenotypes for gene HSD17B3 were set to Gender Assignment Gene Panel (UKGTN); Pseudohermaphroditism, male, with gynecomastia, 264300
HSD17B3 was added to Disorders of sex developmentpanel. Sources: Eligibility statement prior genetic testing,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
HSD17B3All sources for gene: HSD17B3 were removed
HSD17B3All sources for gene: HSD17B3 were removed
HSD17B3All sources for gene: HSD17B3 were removed
HSD17B3 was added to Disorders of sex developmentpanel. Source: Illumina TruGenome Clinical Sequencing Services
HSD17B3 was added to Disorders of sex developmentpanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene HSD17B3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene HSD17B3 were set to Pseudohermaphroditism, male, with gynecomastia
HSD17B3 was added to Disorders of sex developmentpanel. Sources: Eligibility statement prior genetic testing
HSD17B3 was added to Disorders of sex developmentpanel. Sources: UKGTN
HSD17B3 was created by ellenmcdonagh