Familial Hirschsprung Disease

Gene: CELSR3

Amber List (moderate evidence)

CELSR3 (cadherin EGF LAG seven-pass G-type receptor 3)
EnsemblGeneIds (GRCh38): ENSG00000008300
EnsemblGeneIds (GRCh37): ENSG00000008300
OMIM: 604264, Gene2Phenotype
CELSR3 is in 1 panel

2 reviews

Erwin Brosens (Erasmus MC)

Red List (low evidence)

Rebecca Foulger (Genomics England curator)

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.


Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Expert Review Amber
  • Literature
  • Hirschsprung disease
Clinvar variants
Variants in CELSR3
Panels with this gene

History Filter Activity

18 Oct 2017, Gel status: 2

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

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.

28 Aug 2017, Gel status: 2

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Amber List (Moderate Evidence).

5 Jun 2017, Gel status: 0


Rebecca Foulger (Genomics England curator)

CELSR3 was created by rfoulger

5 Jun 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

CELSR3 was added to Familial Hirschsprung Diseasepanel. Sources: Literature