EDN3

endothelin 3
OMIM: 131242, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green EDN3 in Familial Hirschsprung Disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.9

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 1.13

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 1.9
Latest signed off version: v1.4 (15 Oct 2020)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • WAARDENBURG SYNDROME, TYPE 4B
  • WS4B
  • Waardenburg syndrome

Green EDN3 in Hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 2.159
Latest signed off version: v2.158 (29 Jun 2021)

review BOTH monoallelic and biallelic, 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