Familial Hirschsprung Disease
Gene: TCF4Comment on mode of inheritance: Updated MOI to match suggestion by Erwin.Created: 18 Oct 2017, 9:52 a.m.
Comment when marking as ready: Marked as ready: August 14th 2017.Created: 14 Aug 2017, 3:40 p.m.
Comment on list classification: Kept rating as Red. 1 Amber review and currently insufficient direct evidence linking TCF4 to a role in Hirschsprung's pathogenesis.Created: 14 Aug 2017, 3:40 p.m.
Added 'cnv' tag based on PMID:21712996.Created: 14 Aug 2017, 3:37 p.m.
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 TCF4 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Publications for TCF4 were set to 28543993; 21712996; 17436255; 24058414
Publications for TCF4 were set to 28543993; 21712996; 17436255; 24058414; 21712996
Publications for TCF4 were set to 28543993; 21712996; 17436255; 24058414
Publications for TCF4 were set to 28543993; 21712996; 17436255; 24058414
TCF4 was added to Familial Hirschsprung Diseasepanel. Sources: Literature
TCF4 was created by rfoulger