Familial Hirschsprung DiseaseGene: ELP1
Comment when marking as ready: Marked IKBKAP as ready: August 3rd 2017. Red review plus no direct evidence for role of IKBKAP in Hirschsprung disease. Therefore remaining on the panel as red/research gene only.
Created: 3 Aug 2017, 10:28 a.m.
Associated with risk of HSCR. PMID:25717236 show that in Zebrafish, ELP1 (IKBKAP) knockdown results in a HSCR-like phenotype (aganglionosis and a reduced number of enteric neurons).
Created: 5 Jun 2017, 1:41 p.m.
Added new-gene-name tag: current HGNC symbol is ELP1.
Created: 5 Jun 2017, 1:39 p.m.
IKBKAP was changed to ELP1
new-gene-name was removed from IKBKAP. Panel: Familial Hirschsprung Disease
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 IKBKAP was changed to Unknown
This gene has been classified as Red List (Low Evidence).
ELP1* was changed to IKBKAP
ELP1* was created by rfoulger
ELP1* was added to Familial Hirschsprung Diseasepanel. Sources: Literature