Disorders of sex development

Gene: HSD17B3

Green List (high evidence)

HSD17B3 (hydroxysteroid 17-beta dehydrogenase 3)
EnsemblGeneIds (GRCh38): ENSG00000130948
EnsemblGeneIds (GRCh37): ENSG00000130948
OMIM: 605573, Gene2Phenotype
HSD17B3 is in 3 panels

4 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.

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)

Green List (high evidence)

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

21 Dec 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 21/12/2016

12 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 May 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene HSD17B3 were set to Gender Assignment Gene Panel (UKGTN); Pseudohermaphroditism, male, with gynecomastia, 264300

20 May 2016, Gel status: 3

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

20 May 2016, Gel status: 0

clearsources

Sarah Leigh (Genomics England Curator)

HSD17B3All sources for gene: HSD17B3 were removed

20 May 2016, Gel status: 0

clearsources

Sarah Leigh (Genomics England Curator)

HSD17B3All sources for gene: HSD17B3 were removed

20 May 2016, Gel status: 2

clearsources

Sarah Leigh (Genomics England Curator)

HSD17B3All sources for gene: HSD17B3 were removed

20 May 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

HSD17B3 was added to Disorders of sex developmentpanel. Source: Illumina TruGenome Clinical Sequencing Services

20 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

HSD17B3 was added to Disorders of sex developmentpanel. Source: Radboud University Medical Center, Nijmegen

11 Jan 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene HSD17B3 was set to BIALLELIC, autosomal or pseudoautosomal

11 Jan 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene HSD17B3 were set to Pseudohermaphroditism, male, with gynecomastia

11 Jan 2016, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

HSD17B3 was added to Disorders of sex developmentpanel. Sources: Eligibility statement prior genetic testing

11 Jan 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

HSD17B3 was added to Disorders of sex developmentpanel. Sources: UKGTN

11 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

HSD17B3 was created by ellenmcdonagh