Familial Hirschsprung Disease

Gene: ELP1

Red List (low evidence)

ELP1 (elongator complex protein 1)
EnsemblGeneIds (GRCh38): ENSG00000070061
EnsemblGeneIds (GRCh37): ENSG00000070061
OMIM: 603722, Gene2Phenotype
ELP1 is in 6 panels

2 reviews

Erwin Brosens (Erasmus MC)

Red List (low evidence)

Rebecca Foulger (Genomics England curator)

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.

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • risk of HSCR
  • Hirschsprung disease (HSCR)
OMIM
603722
Clinvar variants
Variants in ELP1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

5 Nov 2017, Gel status: 1

Changed Gene Name

GEL ()

IKBKAP was changed to ELP1

5 Nov 2017, Gel status: 1

Removed Tag

GEL ()

new-gene-name was removed from IKBKAP. Panel: Familial Hirschsprung Disease

18 Oct 2017, Gel status: 1

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.

18 Oct 2017, Gel status: 1

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for IKBKAP was changed to Unknown

3 Aug 2017, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Red List (Low Evidence).

5 Jun 2017, Gel status: 0

Changed Gene Name

Rebecca Foulger (Genomics England curator)

ELP1* was changed to IKBKAP

5 Jun 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

ELP1* was created by rfoulger

5 Jun 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

ELP1* was added to Familial Hirschsprung Diseasepanel. Sources: Literature