EDN3

endothelin 3
OMIM: 131242, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green EDN3 in Familial Hirschsprung Disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.10

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Alder Hey - Erasmus MC
Phenotypes
  • susceptibility to Hirschsprung disease 4, 613712
  • {Hirschsprung disease, susceptibility to, 4}, 613712
  • Waardenburg syndrome, type 4B, 613265
  • Hirschsprung Disease, Dominant
  • Waardenburg syndrome
  • WS4B
  • total colonic aganglionosis
  • short-segment Hirschsprung disease
Tags
  • monogenic-polygenic
Red EDN3 in Familial pulmonary fibrosis

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.31

review Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Disease
Red EDN3 in Sudden death in young people

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 1.15

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Central hypoventilation syndrome, congenital, 209880
  • CCHS
Green EDN3 in Pigmentary skin disorders


Version 3.11
Latest signed off version: v3.0 (22 Mar 2023)

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • WAARDENBURG SYNDROME, TYPE 4B
  • WS4B
  • Waardenburg syndrome
Green EDN3 in Monogenic hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.36
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Waardenburg syndrome, type 4B, 613265
    • Central hypoventilation syndrome, congenital, 209880
    • {Hirschsprung disease, susceptibility to}, 613712
    Green EDN3 in Paediatric pseudo-obstruction syndrome


    Version 1.5
    Latest signed off version: v1.0 (22 Mar 2023)

    review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Waardenburg syndrome, type 4B, OMIM:613265
    • {Hirschsprung disease, susceptibility to, 4}, OMIM:613712
    Tags
    • monogenic-polygenic