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  2. Familial Hirschsprung Disease
  3. VCL
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Familial Hirschsprung Disease

Gene: VCL

Amber List (moderate evidence)
VCL (vinculin)
EnsemblGeneIds (GRCh38): ENSG00000035403
EnsemblGeneIds (GRCh37): ENSG00000035403
OMIM: 193065, Gene2Phenotype
VCL is in 7 panels

3 reviews

Rebecca Foulger (Genomics England curator)

Added 'watchlist' tag alongside Amber rating.
Created: 14 Aug 2017, 3:52 p.m.
Comment on list classification: Updated rating from Red to Amber: On original expert submitted list, including report of functional assays. Amber expert review plus insufficient number of cases reported to rate green.
Created: 14 Aug 2017, 3:52 p.m.
PMID:28342760 (Lai et al., 2017) identified variant M209L in VCL with short-segment Hirschsprung disease (S-HSCR) using iPSC cell lines. Correction of this mutation in iPSC using CRISPR/Cas9 editing restored enteric neural crest cell (ENCC) function.
Created: 14 Aug 2017, 3:46 p.m.
Created: 14 Aug 2017, 3:52 p.m.

Panel version: 0.137

Erwin Brosens (Erasmus MC)

I don't know

Created: 3 Aug 2017, 6:34 a.m.

Panel version: 0.83

Sumita Chhabra (University of Liverpool / Alder Hey Children's Hospital)

functional test confirming deleterious variants
Created: 8 May 2017, 10:36 a.m.
Created: 8 May 2017, 10:36 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Alder Hey - Erasmus MC
Phenotypes
  • susceptibility to Hirschsprung disease
  • short-segment Hirschsprung disease (S-HSCR)
Tags
watchlist
OMIM
193065
Clinvar variants
Variants in VCL
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Oct 2017, Gel status: 2

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.

14 Aug 2017, Gel status: 2

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Amber List (Moderate Evidence).

14 Aug 2017, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for VCL were set to susceptibility to Hirschsprung disease; short-segment Hirschsprung disease (S-HSCR)

14 Aug 2017, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for VCL were set to susceptibility to Hirschsprung disease; short-segment Hirschsprung disease (S-HSCR); total colonic aganglionosis

1 Aug 2017, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for VCL were set to susceptibility to Hirschsprung disease; short-segment Hirschsprung disease (S-HSCR)

1 Aug 2017, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for VCL were set to 28342760

8 May 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

VCL was added to Familial Hirschprungs Diseasepanel. Sources: Alder Hey - Erasmus MC

8 May 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

VCL was created by rfoulger