Genes in panel
STRs in panel
Prev Next

Cardiomyopathies - including childhood onset

Gene: ACTA1

Green List (high evidence)

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

2 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Reviewed a number of publications about the association of ACTA1 with cardiomyopathy. All affected patients have heterozygous variants in ACTA1. Therefore, MOI should stay as Monoallelic.
Created: 5 Jul 2021, 10:15 a.m. | Last Modified: 5 Jul 2021, 10:15 a.m.
Panel Version: 1.49
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

Rebecca Whittington (South West GLH)

Green List (high evidence)

OMIM#612794 Atrial septal defect 5;OMIM#613424 Cardiomyopathy, dilated, 1R;OMIM#612098 Cardiomyopathy, hypertrophic, 11OMIM#613424 Left ventricular noncompaction 4
Created: 25 Mar 2019, 4:30 p.m.
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 disease penetrance, adult onset in this family reported.Tadokoro 2018( Journal of the Neurological Sciences 393 (2018) 142144: 1) patient but presented case series of 7 patients presenting with myopathy and 2 had DCM others had HCM, all childhood onset.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • South West GLH
  • London South GLH
  • Expert Review Green
Phenotypes
  • Dilated cardiomyopathy, MONDO:0005021
  • Hypertrophic cardiomyopathy, MONDO:0005045
  • Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800
  • CMD with rigid spine
  • Myopathy, congenital, with fiber-type disproportion 1, OMIM:255310
OMIM
102610
Clinvar variants
Variants in ACTA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jul 2021, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: ACTA1 were set to 26888179; 16945537; 32969603

5 Jul 2021, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: ACTA1 were set to 26888179; 16945537

5 Jul 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ACTA1 were changed from Dilated cardiomyopathy; Hypertrophic cardiomyopathy; Nemaline myopathy 3, autosomal dominant or recessive 161800; CMD with rigid spine; Myopathy, congenital, with fiber-type disproportion 1 255310 to Dilated cardiomyopathy, MONDO:0005021; Hypertrophic cardiomyopathy, MONDO:0005045; Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800; CMD with rigid spine; Myopathy, congenital, with fiber-type disproportion 1, OMIM:255310

5 Jul 2021, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: ACTA1 were set to doi:10. 1007/ s12265-016-9673-5; 16945537

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ACTA1.

4 Sep 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: ACTA1 was added gene: ACTA1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH Mode of inheritance for gene: ACTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTA1 were set to doi:10. 1007/ s12265-016-9673-5; 16945537 Phenotypes for gene: ACTA1 were set to Dilated cardiomyopathy; Hypertrophic cardiomyopathy; Nemaline myopathy 3, autosomal dominant or recessive 161800; CMD with rigid spine; Myopathy, congenital, with fiber-type disproportion 1 255310