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  2. Cardiomyopathy_Paediatric
  3. VCL
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Cardiomyopathy_Paediatric

Gene: VCL

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Two individuals reported in 2006. One of the variants, p.Arg975Trp is present in 25 individuals in gnomad, the second, p.Leu277Met is present in 33.
Created: 21 Jun 2020, 8:02 a.m. | Last Modified: 21 Jun 2020, 8:02 a.m.
Panel Version: 0.80

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardiomyopathy, hypertrophic, 15, MIM# 613255

Publications

Created: 21 Jun 2020, 8:02 a.m.
Last Modified: 21 Jun 2020, 8:02 a.m.
Panel version: Imported from Hypertrophic cardiomyopathy_HCM panel version 0.80

Ivan Macciocca (Victorian Clinical Genetics Services)

Red List (low evidence)

LIMITED evidence by ClinGen HCM working group PMID: 30681346
Created: 21 Jun 2020, 6:32 a.m. | Last Modified: 21 Jun 2020, 6:32 a.m.
Panel Version: 0.67

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
HCM

Publications

Created: 21 Jun 2020, 6:32 a.m.
Last Modified: 21 Jun 2020, 6:32 a.m.
Panel version: Imported from Hypertrophic cardiomyopathy_HCM panel version 0.67

Details

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

History Filter Activity

28 Jul 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: VCL was added gene: VCL was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green 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