Dilated Cardiomyopathy

Gene: VCL

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families and enrichment in cohorts. Functional data including mouse model.

MODERATE by ClinGen.
Created: 18 May 2021, 9:18 a.m. | Last Modified: 18 May 2021, 9:18 a.m.
Panel Version: 0.145

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardiomyopathy, dilated, 1W, MIM# 611407

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, dilated, 1W, MIM# 611407
OMIM
193065
Clinvar variants
Variants in VCL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vcl has been classified as Green List (High Evidence).

18 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: VCL were changed from to Cardiomyopathy, dilated, 1W, MIM# 611407

18 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: VCL were set to

18 May 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: VCL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: VCL was added gene: VCL was added to Dilated cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: VCL was set to Unknown