Familial Hirschsprung Disease
Gene: DLL3EnsemblGeneIds (GRCh38): ENSG00000090932
EnsemblGeneIds (GRCh37): ENSG00000090932
OMIM: 602768, Gene2Phenotype
DLL3 is in 6 panels
2 reviews
Rebecca Foulger (Genomics England curator)
Comment when marking as ready: Marked DLL3 as ready: August 3rd 2017. No direct evidence for role of DLL3 in Hirschsprung disease. Therefore remaining on the panel as red/research gene only.Created: 3 Aug 2017, 10:05 a.m.
Erwin Brosens (Erasmus MC)
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- risk of HSCR
- HSCR susceptibility
- OMIM
- 602768
- Clinvar variants
- Variants in DLL3
- 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 DLL3 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)DLL3 was added to Familial Hirschsprung Diseasepanel. Sources: Literature
Created
Rebecca Foulger (Genomics England curator)DLL3 was created by rfoulger