Differences in sex development
Gene: HSD17B3EnsemblGeneIds (GRCh38): ENSG00000130948
EnsemblGeneIds (GRCh37): ENSG00000130948
OMIM: 605573, Gene2Phenotype
HSD17B3 is in 2 panels
4 reviews
Ivone Leong (Genomics England Curator)
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.
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P / DD. Numerous variants reported.Created: 12 Sep 2016, 9:08 a.m.
John Achermann (UCL Institute of Child Health)
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.
Ellen McDonagh (Genomics England Curator)
Phenotypes from UKGTN and OMIM. Mode of inheritance sourced from OMIM.Created: 11 Jan 2016, 10:40 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Eligibility statement prior genetic testing
- Emory Genetics Laboratory
- Phenotypes
-
- Gender Assignment Gene Panel (UKGTN)
- Pseudohermaphroditism, male, with gynecomastia, 264300
- OMIM
- 605573
- Clinvar variants
- Variants in HSD17B3
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 21/12/2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene HSD17B3 were set to Gender Assignment Gene Panel (UKGTN); Pseudohermaphroditism, male, with gynecomastia, 264300
Upload gene information
Sarah Leigh (Genomics England Curator)HSD17B3 was added to Disorders of sex developmentpanel. Sources: Eligibility statement prior genetic testing,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
clearsources
Sarah Leigh (Genomics England Curator)HSD17B3All sources for gene: HSD17B3 were removed
clearsources
Sarah Leigh (Genomics England Curator)HSD17B3All sources for gene: HSD17B3 were removed
clearsources
Sarah Leigh (Genomics England Curator)HSD17B3All sources for gene: HSD17B3 were removed
Added New Source
Sarah Leigh (Genomics England Curator)HSD17B3 was added to Disorders of sex developmentpanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Sarah Leigh (Genomics England Curator)HSD17B3 was added to Disorders of sex developmentpanel. Source: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene HSD17B3 was set to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene HSD17B3 were set to Pseudohermaphroditism, male, with gynecomastia
Upload gene information
Ellen McDonagh (Genomics England Curator)HSD17B3 was added to Disorders of sex developmentpanel. Sources: Eligibility statement prior genetic testing
Added New Source
Ellen McDonagh (Genomics England Curator)HSD17B3 was added to Disorders of sex developmentpanel. Sources: UKGTN
Created
Ellen McDonagh (Genomics England Curator)HSD17B3 was created by ellenmcdonagh