Hypertrophic cardiomyopathy - teen and adult

Gene: VCL

Red List (low evidence)

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

3 reviews

James Eden (Manchester)

Red List (low 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: 19 Sep 2019, 9:59 a.m. | Last Modified: 19 Sep 2019, 9:59 a.m.
Panel Version: 1.74

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

Rebecca Whittington (South West GLH)

Red List (low evidence)

Cardiomyopathy, hypertrophic, 15 (613255)
Created: 25 Mar 2019, 4:30 p.m.
Reports on HGMD are VUS (2 downgraded)
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • North West GLH
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, dilated, 1W (611407)
  • Cardiomyopathy, familial hypertrophic, 15,
  • Cardiomyopathy, hypertrophic, 15 (613255)
OMIM
193065
Clinvar variants
Variants in VCL
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to VCL. Mode of inheritance for gene VCL was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

14 Feb 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

Source North West GLH was added to VCL. Mode of inheritance for gene VCL was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Cardiomyopathy, dilated, 1W (611407); Cardiomyopathy, hypertrophic, 15 (613255) for gene: VCL Publications for gene VCL were changed from to 27532257; 28369730

13 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

VCL was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list

13 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

VCL was added to Hypertrophic Cardiomyopathypanel. Sources: Radboud University Medical Center, Nijmegen