Hypertrophic cardiomyopathy_HCM
Gene: MYOZ2

MYOZ2 (myozenin 2)
EnsemblGeneIds (GRCh38): ENSG00000172399
EnsemblGeneIds (GRCh37): ENSG00000172399
OMIM: 605602, Gene2Phenotype
MYOZ2 is in 4 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Red List (low evidence)

Limited evidence by ClinGen working group.

Via ClinGen: Only one family (segregation in 5 members) has convincing association with disease. Other reports were either for variants that have population frequency suggesting benignity or in a proband where a variant in MYH7 was also found. Studies in mice of two of these variants showed that they developed cardiac hypertrophy with preserved systolic function.

A review of the literature finds no other reports.
Created: 29 Jul 2020, 12:20 a.m. | Last Modified: 29 Jul 2020, 12:26 a.m.

Panel Version: 0.89

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cardiomyopathy, hypertrophic, 16 MIM#613838

Publications

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

Created: 29 Jul 2020, 12:20 a.m.
Last Modified: 29 Jul 2020, 12:26 a.m.
Panel version: 0.89

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Cardiomyopathy, hypertrophic, 16 MIM#613838

OMIM

605602

Clinvar variants

Variants in MYOZ2

Penetrance

None

Publications

Panels with this gene