Sudden cardiac death - previous panel

Gene: VCL

Green List (high evidence)

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

2 reviews

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.

James Eden (Manchester)

Green List (high evidence)

Gene currently tested on Manchester cardiac gene panel. Only class 1-3 variants detected to date. 38 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: limited association with hypertrophic cardiomyopathy 15 (accessed 29/01/2019).
Created: 14 Feb 2019, 1:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cardiomyopathy, dilated, 1W (611407); Cardiomyopathy, hypertrophic, 15 (613255)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • London South GLH
  • North West GLH
  • Expert Review Green
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 15,
  • Cardiomyopathy, dilated, 1W (611407)
  • Cardiomyopathy, dilated, 1W
  • Cardiomyopathy, hypertrophic, 15 (613255)
OMIM
193065
Clinvar variants
Variants in VCL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Sep 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: VCL was added gene: VCL was added to Sudden cardiac death. Sources: Expert Review Green,North West GLH,London South GLH Mode of inheritance for gene: VCL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: VCL were set to 27532257; 28369730 Phenotypes for gene: VCL were set to Cardiomyopathy, familial hypertrophic, 15,; Cardiomyopathy, dilated, 1W (611407); Cardiomyopathy, dilated, 1W; Cardiomyopathy, hypertrophic, 15 (613255)