Dilated Cardiomyopathy
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)

Red List (low evidence)

Association with HCM is definitive.

No segregation or experimental data to support association with DCM. VOUS only in large cohorts.
Created: 18 Mar 2021, 10:04 a.m. | Last Modified: 18 Mar 2021, 10:04 a.m.

Panel Version: 0.94

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardiomyopathy, dilated, 1MM, MIM#615396

Created: 18 Mar 2021, 10:04 a.m.
Last Modified: 18 Mar 2021, 10:04 a.m.
Panel version: 0.94

Paul De Fazio (Victorian Clinical Genetics Services)

I don't know

Reviewed as Limited evidence by ClinGen working group (April 24, 2020) for dilated cardiomyopathy.

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_652d0370-9574-450c-b7c4-eec86ade9046-2020-09-04T160000.000Z
Created: 18 Mar 2021, 6:56 a.m. | Last Modified: 18 Mar 2021, 6:56 a.m.

Panel Version: 0.91

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardiomyopathy, dilated, 1MM, MIM#615396

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

Created: 18 Mar 2021, 6:56 a.m.
Last Modified: 18 Mar 2021, 6:56 a.m.
Panel version: 0.91

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Cardiomyopathy, dilated, 1MM, MIM#615396

OMIM

600958

Clinvar variants

Variants in MYBPC3

Penetrance

None

Panels with this gene