Arrhythmogenic Cardiomyopathy
Gene: BVES

BVES (blood vessel epicardial substance)
EnsemblGeneIds (GRCh38): ENSG00000112276
EnsemblGeneIds (GRCh37): ENSG00000112276
OMIM: 604577, Gene2Phenotype
BVES is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Not an arrhythmogenic cardiomyopathy.
Created: 5 Aug 2020, 6:49 a.m. | Last Modified: 5 Aug 2020, 6:49 a.m.

Panel Version: 0.35

Created: 5 Aug 2020, 6:49 a.m.
Last Modified: 5 Aug 2020, 6:49 a.m.
Panel version: 0.35

Elena Savva (Victorian Clinical Genetics Services)

I don't know

OMIM: aka POPDC1

PMID: 26642364 - 1 family (3 affecteds) with cardiac arrhythmia and limb-girdle muscular dystrophy. Supported by functional studies. The proband showed lower limb girdle weakness at ~40 years old with muscle biopsy proving dystrophic changes. His 2 affected grandchildren had onset in teenage years.

PMID: 31119192 - 3 families (4 affecteds) with limb-girdle muscular weakness and cardiac abnormalities/arrhythmia. All had onset in adulthood, with exercise intolerance or proximal weakness.

Summary: multiple reports of patients with arrhythmias
Sources: Literature
Created: 29 Jun 2020, 3:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 25 616812

Publications

PMID: 26642364
31119192

Created: 29 Jun 2020, 3:11 a.m.

Panel version: 0.7

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Literature

Phenotypes

Muscular dystrophy, limb-girdle, autosomal recessive 25 616812

OMIM

604577

Clinvar variants

Variants in BVES

Penetrance

None

Publications

Panels with this gene