PanelApp (staging)
  1. Genes and Genomic Entities
  2. DHH

DHH

desert hedgehog
OMIM: 605423, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green DHH in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.6

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 46XY partial gonadal dysgenesis, with minifascicular neuropathy, MIM# 607080

Green DHH in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 46XY gonadal dysgenesis with minifascicular neuropathy MIM#607080
  • 46XY sex reversal 7 MIM#233420

Green DHH in Hereditary Neuropathy - complex


Level 2: Neurology and neurodevelopmental disorders
Version 1.19

Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • 46XY partial gonadal dysgenesis, with minifascicular neuropathy, MIM# 607080

    Red DHH in Fetal anomalies


    Version 1.313

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • 46XY gonadal dysgenesis with minifascicular neuropathy MIM#607080