Congenital Heart Defect
Gene: MYH6

MYH6 (myosin heavy chain 6)
EnsemblGeneIds (GRCh38): ENSG00000197616
EnsemblGeneIds (GRCh37): ENSG00000197616
OMIM: 160710, Gene2Phenotype
MYH6 is in 7 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Variants reported in multiple CHD families, in particular atrial septal defect. Gain of function has been postulated as the disease mechanism
Created: 1 Jun 2020, 2:26 a.m. | Last Modified: 1 Jun 2020, 2:26 a.m.

Panel Version: 0.40

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

Phenotypes
Atrial septal defect 3 (MIM#614089)

Publications

Mode of pathogenicity
Other

Created: 1 Jun 2020, 2:26 a.m.
Last Modified: 1 Jun 2020, 2:26 a.m.
Panel version: 0.40

Details

Mode of Inheritance

Unknown

Sources

Victorian Clinical Genetics Services
Expert Review Green

OMIM

160710

Clinvar variants

Variants in MYH6

Penetrance

None

Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MYH6 was added gene: MYH6 was added to Congenital Heart Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MYH6 was set to Unknown

Congenital Heart Defect Gene: MYH6