Familial Hirschsprung Disease
Gene: VCLAdded 'watchlist' tag alongside Amber rating.Created: 14 Aug 2017, 3:52 p.m.
Comment on list classification: Updated rating from Red to Amber: On original expert submitted list, including report of functional assays. Amber expert review plus insufficient number of cases reported to rate green.Created: 14 Aug 2017, 3:52 p.m.
PMID:28342760 (Lai et al., 2017) identified variant M209L in VCL with short-segment Hirschsprung disease (S-HSCR) using iPSC cell lines. Correction of this mutation in iPSC using CRISPR/Cas9 editing restored enteric neural crest cell (ENCC) function.Created: 14 Aug 2017, 3:46 p.m.
functional test confirming deleterious variantsCreated: 8 May 2017, 10:36 a.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.
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for VCL were set to susceptibility to Hirschsprung disease; short-segment Hirschsprung disease (S-HSCR)
Phenotypes for VCL were set to susceptibility to Hirschsprung disease; short-segment Hirschsprung disease (S-HSCR); total colonic aganglionosis
Phenotypes for VCL were set to susceptibility to Hirschsprung disease; short-segment Hirschsprung disease (S-HSCR)
Publications for VCL were set to 28342760
VCL was added to Familial Hirschprungs Diseasepanel. Sources: Alder Hey - Erasmus MC
VCL was created by rfoulger