Disorders of sex development

Gene: DHH

Green List (high evidence)

DHH (desert hedgehog)
EnsemblGeneIds (GRCh38): ENSG00000139549
EnsemblGeneIds (GRCh37): ENSG00000139549
OMIM: 605423, Gene2Phenotype
DHH is in 4 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, not in G2P / DD. At least six variants reported
Created: 13 Sep 2016, 8:06 a.m.

John Achermann (UCL Institute of Child Health)

Green List (high evidence)

Variable clinical presentation with different degrees of undervirilization. Often have minifascicular neuropathy. May be predominant steroidogenesis defect. Still very rare.
Created: 4 Feb 2016, 12:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Undervirilization often with minifascicular neuropathy

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
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Other
Phenotypes
  • 46XY partial gonadal dysgenesis, with minifascicular neuropathy, 607080
  • 46XY sex reversal 7, 233420
OMIM
605423
Clinvar variants
Variants in DHH
Penetrance
Complete
Publications
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

13 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).

13 Sep 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for DHH were set to 25927242; 23786321; 21816240

13 Sep 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

DHH was added to Disorders of sex developmentpanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN

20 May 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene DHH were set to 46XY partial gonadal dysgenesis, with minifascicular neuropathy, 607080; 46XY sex reversal 7, 233420

20 May 2016, Gel status: 2

Upload gene information

Sarah Leigh (Genomics England Curator)

DHH was added to Disorders of sex developmentpanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Other

20 May 2016, Gel status: 2

clearsources

Sarah Leigh (Genomics England Curator)

DHHAll sources for gene: DHH were removed

20 May 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

DHH was added to Disorders of sex developmentpanel. Source: Emory Genetics Laboratory

20 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

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

11 Jan 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DHH was added to Disorders of sex developmentpanel. Sources: UKGTN,Other

11 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DHH was created by ellenmcdonagh