Paediatric or syndromic cardiomyopathy

Gene: ACTA1

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

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