Familial Hirschsprung Disease
Gene: CELSR3
Comment on list classification: Updated rating from Red to Amber, based on discussion with Helen Brittain: evidence in PMID:27619161 alone is insufficient to support causation and no family data is presented.Variants reported are also in ExAC with varying frequency. Plus Red expert review. Therefore added 'watchlist' tag as further papers required to use this gene in tiering.Created: 28 Aug 2017, 9:17 a.m.
In PMID:27619161 (2016), 5 rare mutations in CELSR3 were identified in 6 patients with HSCR, and upregulation of CELSR3 mRNA expression was detected in 80% of aganglionic segments.Created: 5 Jun 2017, 1:35 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.
This gene has been classified as Amber List (Moderate Evidence).
CELSR3 was created by rfoulger
CELSR3 was added to Familial Hirschsprung Diseasepanel. Sources: Literature