Differences of Sex Development
Gene: DHH

DHH (desert hedgehog)
EnsemblGeneIds (GRCh38): ENSG00000139549
EnsemblGeneIds (GRCh37): ENSG00000139549
OMIM: 605423, Gene2Phenotype
DHH is in 4 panels

1 review

Naomi Baker (Victorian Clinical Genetics Services)

Green List (high evidence)

Six patients with seven novel variants. Functional studies included a cell co-culture method to assess DHH variant induction of Hedgehog signalling in cultured Leydig cells. Protein expression and subcellular localisation were also assessed by western blot and immunofluorescence.

Two sisters (46,XY and 46,XX) with peripheral neuropathy and gonadal dysgenesis.

Patient with 46,XY partial gonadal dysgenesis (PGD) who presented with minifascicular neuropathy.
Created: 20 Apr 2020, 2:24 a.m. | Last Modified: 20 Apr 2020, 2:24 a.m.

Panel Version: 0.14

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
gonadal dysgenesis; minifascicular neuropathy.

Publications

Created: 20 Apr 2020, 2:24 a.m.
Last Modified: 20 Apr 2020, 2:24 a.m.
Panel version: 0.14

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

46XY partial gonadal dysgenesis, with minifascicular neuropathy, MIM# 607080

OMIM

605423

Clinvar variants

Variants in DHH

Penetrance

None

Publications

Panels with this gene