Familial Hirschsprung Disease
Gene: IL11EnsemblGeneIds (GRCh38): ENSG00000095752
EnsemblGeneIds (GRCh37): ENSG00000095752
OMIM: 147681, Gene2Phenotype
IL11 is in 2 panels
2 reviews
Erwin Brosens (Erasmus MC)
Rebecca Foulger (Genomics England curator)
Comment when marking as ready: Marked IL11 as ready: August 3rd 2017. Red review plus no direct evidence for role of IL11 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 through association studies.Created: 5 Jun 2017, 1:42 p.m.
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- risk of HSCR
- OMIM
- 147681
- Clinvar variants
- Variants in IL11
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
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.
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for IL11 was changed to Unknown
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Rebecca Foulger (Genomics England curator)IL11 was added to Familial Hirschsprung Diseasepanel. Sources: Literature
Created
Rebecca Foulger (Genomics England curator)IL11 was created by rfoulger