Dilated Cardiomyopathy and conduction defects

Gene: ACTA1

Red List (low evidence)

ACTA1 (actin, alpha 1, skeletal muscle)
EnsemblGeneIds (GRCh38): ENSG00000143632
EnsemblGeneIds (GRCh37): ENSG00000143632
OMIM: 102610, Gene2Phenotype
ACTA1 is in 12 panels

2 reviews

Rebecca Whittington (South West GLH)

Green List (high evidence)

OMIM#612794 Atrial septal defect 5;OMIM#613424 Cardiomyopathy, dilated, 1R;OMIM#612098 Cardiomyopathy, hypertrophic, 11;OMIM#613424 Left ventricular noncompaction 4
Created: 25 Mar 2019, 4:30 p.m.
Very rare cause but can be an additional feature along with myopathy see: Gatayama Pediatrics 2013;131:e1e5 - 1 case study of nemaline myopathy and DCM. Reza 2018 (Circ Genom Precis Med. 2018;11:e002243. DOI: 10.1161/CIRCGEN.118.002243) - large family with a proband, sibling and cousin all affected with DCM and a ACTA1 variant which has no GnomAD freq, there are three obligate carriers of the variant who are affected between these relatives, suggesting high penetrance disease causing variant, adult onset in this family reported. Tadokoro 2018( Journal of the Neurological Sciences 393 (2018) 142144: 1) presented a case series of 7 patients presenting with myopathy: 2 had DCM 5 had HCM, all childhood onset.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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, 2:05 p.m.


Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • South West GLH
  • Literature
  • Dilated cardiomyopathy
  • Hypertrophic cardiomyopathy
Clinvar variants
Variants in ACTA1
  • 23650303
  • doi:10.​1007/​s12265-016-9673-5
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to ACTA1. Mode of inheritance for gene ACTA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

19 Feb 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ACTA1 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Literature

19 Feb 2016, Gel status: 0


Ellen McDonagh (Genomics England Curator)

ACTA1 was created by ellenmcdonagh