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Cardiomyopathies - including childhood onset

Gene: VCL

Green List (high evidence)

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

2 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

Rebecca Whittington (South West GLH)

Green List (high evidence)

Cardiomyopathy, dilated, 1W OMIM#611407; Cardiomyopathy, hypertrophic, 15 OMIM#613255
Created: 25 Mar 2019, 4:30 p.m.
HGMD: 6/17 variants assoc with DCM listed as DM. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601 - suggests identified in paediatric and infantile cases of DCM.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • South West GLH
  • Expert Review Green
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 15,
  • Cardiomyopathy, dilated, 1W
OMIM
193065
Clinvar variants
Variants in VCL
Penetrance
None
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to VCL.

4 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: VCL was added gene: VCL was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH Mode of inheritance for gene: VCL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: VCL were set to Cardiomyopathy, familial hypertrophic, 15,; Cardiomyopathy, dilated, 1W