Familial Hirschsprung Disease

Gene: TCF4

Red List (low evidence)

TCF4 (transcription factor 4)
EnsemblGeneIds (GRCh38): ENSG00000196628
EnsemblGeneIds (GRCh37): ENSG00000196628
OMIM: 602272, Gene2Phenotype
TCF4 is in 7 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment 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.

Erwin Brosens (Erasmus MC)

I don't know

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • risk of HSCR
Tags
cnv
OMIM
602272
Clinvar variants
Variants in TCF4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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 TCF4 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

14 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).

14 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).

14 Aug 2017, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for TCF4 were set to 28543993; 21712996; 17436255; 24058414

14 Aug 2017, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for TCF4 were set to 28543993; 21712996; 17436255; 24058414; 21712996

14 Aug 2017, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for TCF4 were set to 28543993; 21712996; 17436255; 24058414

14 Aug 2017, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for TCF4 were set to 28543993; 21712996; 17436255; 24058414

5 Jun 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

TCF4 was added to Familial Hirschsprung Diseasepanel. Sources: Literature

5 Jun 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

TCF4 was created by rfoulger