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Differences in sex development

Gene: HSD17B2

Red List (low evidence)
HSD17B2 (hydroxysteroid 17-beta dehydrogenase 2)
EnsemblGeneIds (GRCh38): ENSG00000086696
EnsemblGeneIds (GRCh37): ENSG00000086696
OMIM: 109685, Gene2Phenotype
HSD17B2 is in 1 panel

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Not associated with phenotype in OMIM or G2P. No variants reported.
Created: 2 Nov 2016, 1:11 p.m.
Created: 2 Nov 2016, 1:11 p.m.

Panel version: 0.216

John Achermann (UCL Institute of Child Health)

Red List (low evidence)

Created: 4 Feb 2016, 12:36 p.m.

Panel version: 0.40

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Gender Assignment Gene Panel (UKGTN)
OMIM
109685
Clinvar variants
Variants in HSD17B2
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Dec 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 21/12/2016

2 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

23 May 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene HSD17B2 were set to Gender Assignment Gene Panel (UKGTN)

11 Jan 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

HSD17B2 was added to Disorders of sex developmentpanel. Sources: UKGTN

11 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

HSD17B2 was created by ellenmcdonagh