Dilated Cardiomyopathy (DCM)
Gene: ACTA1

ACTA1 (actin, alpha 1, skeletal muscle)
EnsemblGeneIds (GRCh38): ENSG00000143632
EnsemblGeneIds (GRCh37): ENSG00000143632
OMIM: 102610, Gene2Phenotype
ACTA1 is in 10 panels

1 review

Ellen McDonagh (Genomics England Curator)

On the Inherited Cardiac Condition Genes panel for Dilated cardiomyopathy reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.1007/s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 1.

Created: 19 Feb 2016, 2:03 p.m.

Created: 19 Feb 2016, 2:03 p.m.

Panel version: 1.1

Details

Mode of Inheritance

Unknown

Sources

Literature

Phenotypes

Dilated cardiomyopathy
Hypertrophic cardiomyopathy

OMIM

102610

Clinvar variants

Variants in ACTA1

Penetrance

Complete

Publications

23650303
doi:10.1007/s12265-016-9673-5

Panels with this gene

History Filter Activity

19 Feb 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ACTA1 was created by ellenmcdonagh

19 Feb 2016, Gel status: 0

Added New Source