Familial Hirschsprung Disease
Gene: EDN3Added monogenic-polygenic tag based on co-occuring EDNRB variants reported in PMID:23840513.Created: 3 Aug 2017, 11:20 a.m.
Comment when marking as ready: Marked EDN3 as ready: August 3rd 2017.Created: 3 Aug 2017, 8:34 a.m.
Comment on list classification: Updated rating from Amber to Green: Green expert review plus sufficient supporting evidence. >3 unrelated cases of EDN3 variants causing Waardenburg syndrome, type 4 (WS4). Note that WS4 is diagnosed when WS2 is accompanied by Hirschsprung disease. Hirschsprung's disease also occurs in ~16% of patients with congenital central hypoventilation syndrome/CCHS, which is also caused by EDN3 variants.Created: 3 Aug 2017, 8:34 a.m.
Comment on mode of inheritance: Use the MOI suggested by Expert reviewer, Erwin Brosens. OMIM supports a biallelic and monoallelic MOI.Created: 3 Aug 2017, 8:32 a.m.
Mouse model summarised in PMID:27370713, including Aganglionosis in distal colon.Created: 1 Jun 2017, 3:32 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
animal model confirmation. functional test confirming deleterious variantsCreated: 18 Aug 2017, 10:35 a.m.
Variants in this GENE are reported as part of current diagnostic practice
18th October 2017: Revised and approved to Version 1.0 after expert and curator review. An expert list from Mr. Simon Kenny and Professor Robert Hofstra's groups (Alder Hey - Erasmus MC) formed the basis of the original panel. The expert list was then expanded based on a review of literature. Many of the literature genes remain red on the V1.0 panel as they were identified through association studies and/or they represent susceptibility/risk factors for Hirschsprung's disease (HSCR). Sumita Chhabra (Alder Hey) and Erwin Brosens (Erasmus) provided extensive feedback for genes on the panel, together with reviews from Merce Garcia-Barcelo.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for EDN3 were set to 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
Publications for EDN3 were set to 28543993; 27370713; 8630502; 8630503; 20583152; 19764030
Mode of inheritance for EDN3 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for EDN3 were set to susceptibility to Hirschsprung disease 4, 613712; {Hirschsprung disease, susceptibility to, 4}, 613712; Waardenburg syndrome, type 4B, 613265; Hirschsprung Disease, Dominant; Waardenburg syndrome; WS4B
EDN3 was added to Familial Hirschsprung Diseasepanel. Source: Illumina TruGenome Clinical Sequencing Services
EDN3 was added to Familial Hirschsprung Diseasepanel. Source: Radboud University Medical Center, Nijmegen
Publications for EDN3 were set to 28543993; 27370713
Publications for EDN3 were set to 28543993
EDN3 was created by rfoulger
EDN3 was added to Familial Hirschprungs Diseasepanel. Sources: Alder Hey - Erasmus MC