DHH

desert hedgehog
OMIM: 605423, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green DHH in Differences in sex development

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 4.6
Latest signed off version: v4.5 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Other
Phenotypes
  • 46XY partial gonadal dysgenesis, with minifascicular neuropathy, 607080
  • 46XY sex reversal 7, 233420
Red DHH in Fetal anomalies


Version 4.1
Latest signed off version: v4.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • 46XY partial gonadal dysgenesis, with minifascicular neuropathy
  • 46XY sex reversal 7
Red DHH in Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.478

review Not set
Sources
  • NHS GMS
  • South West GLH
  • UKGTN
Red DHH in Hereditary neuropathy or pain disorder


Version 4.11
Latest signed off version: v4.0 (1 May 2024)

review Not set
Sources
  • South West GLH
  • UKGTN
  • NHS GMS
  • NHS GMS
  • South West GLH