Hypertrophic cardiomyopathy_HCM
Gene: VCL

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

17097056

Created: 21 Jun 2020, 8:02 a.m.
Last Modified: 21 Jun 2020, 8:02 a.m.
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

PMID: 30681346

Created: 21 Jun 2020, 6:32 a.m.
Last Modified: 21 Jun 2020, 6:32 a.m.
Panel version: 0.67

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Cardiomyopathy, hypertrophic, 15, MIM# 613255

OMIM

193065

Clinvar variants

Variants in VCL

Penetrance

None

Publications

Panels with this gene