Congenital Heart Defect
Gene: MYBPC3

MYBPC3 (myosin binding protein C, cardiac)
EnsemblGeneIds (GRCh38): ENSG00000134571
EnsemblGeneIds (GRCh37): ENSG00000134571
OMIM: 600958, Gene2Phenotype
MYBPC3 is in 12 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Mono-allelic variants in this gene are typically associated with cardiomyopathy.

However, there are rare reports of bi-allelic variants in the context of severe, perinatal CM and also septal defects.

There is also a postulated link between mono-allelic variants and bicuspid Ao valve. However, given BAV is relatively common in the population, this is much harder to substantiate.
Created: 22 Nov 2023, 2:50 a.m. | Last Modified: 22 Nov 2023, 2:50 a.m.

Panel Version: 0.324

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cardiomyopathy, hypertrophic, 4, MIM# 115197

Publications

Created: 22 Nov 2023, 2:50 a.m.
Last Modified: 22 Nov 2023, 2:50 a.m.
Panel version: 0.324

Yi-Wei Chao (Other)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hypertrophic cardiomyopathy; bicuspid aortic valve; severe infantile cardiomyopathy; septal defect

Publications

Created: 20 Nov 2023, 1:06 p.m.
Last Modified: 20 Nov 2023, 1:06 p.m.
Panel version: 0.315

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

Cardiomyopathy, hypertrophic, 4, MIM# 115197

OMIM

600958

Clinvar variants

Variants in MYBPC3

Penetrance

None

Publications

Panels with this gene