Familial Hirschsprung Disease
Gene: RET
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: >3 independent cases of RET genes causing Hirschsprung disease. Mutations in the RET gene are the most common known genetic cause of Hirschsprung disease. On the Expert list from Alder-Hey and Erasmus, listed for prior genetic testing in the eligibility statement, and rated green by expert review.Created: 18 Jul 2017, 3:09 p.m.
'monogenic-polygenic' tag added based on PMID:19040714 showing the presence of both RET and NTRK3 mutations in 2 affected family members.Created: 5 Jun 2017, 1:54 p.m.
Mouse model summarised in PMID:27370713: Intestinal/colonic aganglionosis.Created: 1 Jun 2017, 3:37 p.m.
PMID:28274275 (Gui et al., 2017) performed de novo mutation (DNM) screening on 24 HSCR trios. 8 DNMs were found in RET, the main HSCR gene, and they provide a zebrafish model for RET involvement in HSCR.Created: 1 Jun 2017, 12:55 p.m.
PMID:7581377 (Attie et al 1995) studied 45 sporadic cases and 35 familial cases, and found mutations of the RET gene in 50% of familial HSCR.Created: 1 Jun 2017, 11:49 a.m.
animal model confirmation. functional test confirming deleterious variantsCreated: 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 Green List (High Evidence).
Publications for RET were set to 28543993; 28274275; 7581377; 27370713; 23084198; 8114938; 8114939
RET was added to Familial Hirschsprung Diseasepanel. Source: Illumina TruGenome Clinical Sequencing Services
RET was added to Familial Hirschsprung Diseasepanel. Source: UKGTN
RET was added to Familial Hirschsprung Diseasepanel. Source: Radboud University Medical Center, Nijmegen
Publications for RET were set to 28543993; 28274275; 7581377; 27370713; 23084198
Publications for RET were set to 28543993; 28274275; 7581377; 27370713
Publications for RET were set to 28543993; 28274275; 7581377
Publications for RET were set to 28543993; 28274275
Publications for RET were set to 28543993
RET was added to Familial Hirschprungs Diseasepanel. Sources: Eligibility statement prior genetic testing
RET was added to Familial Hirschprungs Diseasepanel. Sources: Alder Hey - Erasmus MC
RET was created by rfoulger