DHH

desert hedgehog
OMIM: 605423, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green DHH in Disorders of sex development

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 2.1

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

Red DHH in Fetal anomalies


Version 1.0

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 1.368

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

Red DHH in Hereditary neuropathy NOT PMP22 copy number


Version 1.0

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