PanelApp
  1. Genes and Genomic Entities
  2. DHH

DHH

desert hedgehog
OMIM: 605423, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green DHH in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.24

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome, MONDO:0011766

Green DHH in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome, MONDO:0011766

Green DHH in Hereditary Neuropathy - complex


Level 2: Neurology and neurodevelopmental disorders
Version 1.40

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
    • 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome, MONDO:0011766

    Red DHH in Fetal anomalies


    Version 1.465

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

    Green DHH in Infertility and Recurrent Pregnancy Loss


    Version 1.50

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome, MONDO:0011766