Hypertrophic cardiomyopathy_HCM
Gene: MYOM1

MYOM1 (myomesin 1)
EnsemblGeneIds (GRCh38): ENSG00000101605
EnsemblGeneIds (GRCh37): ENSG00000101605
OMIM: 603508, Gene2Phenotype
MYOM1 is in 4 panels

2 reviews

Ivan Macciocca (Victorian Clinical Genetics Services)

Red List (low evidence)

LIMITED evidence by ClinGen HCM working group PMID: 30681346
Created: 21 Jun 2020, 6:23 a.m. | Last Modified: 21 Jun 2020, 6:23 a.m.

Panel Version: 0.67

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
HCM

Publications

PMID: 30681346

Created: 21 Jun 2020, 6:23 a.m.
Last Modified: 21 Jun 2020, 6:23 a.m.
Panel version: 0.67

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Several individuals with variants in this gene reported; however causality not conclusively demonstrated. Gene is not associated with disease in OMIM, gene-disease association has been rated LIMITED by ClinGen, and gene is rated RED on the GEL HOCM panel.
Created: 2 Feb 2020, 3:11 a.m. | Last Modified: 2 Feb 2020, 3:11 a.m.

Panel Version: 0.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypertrophic cardiomyopathy

Publications

Created: 2 Feb 2020, 3:11 a.m.
Last Modified: 2 Feb 2020, 3:11 a.m.
Panel version: 0.5

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Hypertrophic cardiomyopathy, MONDO:0005045

OMIM

603508

Clinvar variants

Variants in MYOM1

Penetrance

None

Publications

Panels with this gene