Familial Hirschsprung DiseaseGene: DSCAM
Comment when marking as ready: Marked DSCAM as ready: August 3rd 2017. No direct evidence for causative role of DSCAM in Hirschsprung disease. Therefore remaining on the panel as red/research gene only.
Created: 3 Aug 2017, 10:10 a.m.
Associated with risk of HSCR. The significant association between Down syndrome (trisomy 21) and HSCR may be due to the alterations in the Down Syndrome Cell Adhesion Molecule gene (DSCAM). In patients with Down syndrome-associated HSCR, mutations in the DSCAM gene result in over-transmission of the hypomorphic RET allele, so leading predisposition to HSCR.
Created: 5 Jun 2017, 1:36 p.m.
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.
Mode of inheritance for DSCAM was changed to Unknown
This gene has been classified as Red List (Low Evidence).
DSCAM was created by rfoulger
DSCAM was added to Familial Hirschsprung Diseasepanel. Sources: Literature