Differences in sex development
Gene: DHH

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.

Created: 29 Apr 2019, 9:46 a.m.

Panel version: 1.32

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.

Created: 13 Sep 2016, 8:06 a.m.

Panel version: 0.183

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

Created: 4 Feb 2016, 12:34 p.m.

Panel version: 0.40

Ellen McDonagh (Genomics England Curator)

Phenotypes from UKGTN and OMIM. Mode of inheritance sourced from OMIM.
Created: 11 Jan 2016, 10:40 a.m.

Created: 11 Jan 2016, 10:40 a.m.

Panel version: 0.16

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