Familial Hirschsprung Disease
Gene: ECE1Added 'watchlist' tag alongside Amber rating.Created: 3 Aug 2017, 2:41 p.m.
Comment on list classification: Updated rating from Red to Amber: Amber expert review plus ECE1 was on original expert list submitted by Alder-Hey/Erasmus groups. Not yet 3 reported cases to meet diagnostic grade criteria.Created: 3 Aug 2017, 10:12 a.m.
Comment on mode of inheritance: Updated MOI to include 'NOT imprinted' to match suggestion by expert reviewer.Created: 3 Aug 2017, 10:11 a.m.
Hofstra et al. (1999, PMID:9915973) identified heterozygosity an R742C mutation in the ECE1 gene in a patient with skip-lesions Hirschsprung disease, cardiac defects, craniofacial abnormalities and other dysmorphic features, and autonomic dysfunction (HCAD, MIM:613870).Created: 1 Aug 2017, 2:53 p.m.
Mouse model summarised in PMID:27370713, including Aganglionosis in distal colon.Created: 1 Jun 2017, 3:34 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
animal model confirmationCreated: 8 May 2017, 10:36 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 Amber List (Moderate Evidence).
Mode of inheritance for ECE1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for ECE1 were set to 28543993; 27370713; 9915973
Phenotypes for ECE1 were set to ?Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870
ECE1 was added to Familial Hirschsprung Diseasepanel. Source: Radboud University Medical Center, Nijmegen
Publications for ECE1 were set to 28543993; 27370713
Publications for ECE1 were set to 28543993
ECE1 was created by rfoulger
ECE1 was added to Familial Hirschprungs Diseasepanel. Sources: Alder Hey - Erasmus MC