Previous cardiomyopathies - including childhood onset
Gene: ACTA1
OMIM#612794 Atrial septal defect 5;OMIM#613424 Cardiomyopathy, dilated, 1R;OMIM#612098 Cardiomyopathy, hypertrophic, 11OMIM#613424 Left ventricular noncompaction 4Created: 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
Source London South GLH was added to ACTA1.
Source South West GLH was added to ACTA1. Mode of inheritance for gene ACTA1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sarah Leigh: Associated with relevant pheno
Added phenotypes Hypertrophic cardiomyopathy; Dilated cardiomyopathy for gene: ACTA1 Publications for gene ACTA1 were changed from doi:10. 1007/ s12265-016-9673-5; 23650303 to doi:10. 1007/ s12265-016-9673-5; 16945537
Added phenotypes Hypertrophic cardiomyopathy; Dilated cardiomyopathy for gene: ACTA1 Publications for gene ACTA1 were changed from 20179953; 25182138 - report of two brothers with congenital muscular dystrophy with rigid spine homozygous for a missense variant (parents were heterozygous, unaffected siblings were either heterozygous or homozygous for the wildtype allele); 24642510; 26436962; 25913210 to doi:10. 1007/ s12265-016-9673-5; 23650303
gene: ACTA1 was added gene: ACTA1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Amber Mode of inheritance for gene: ACTA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACTA1 were set to 20179953; 25182138 - report of two brothers with congenital muscular dystrophy with rigid spine homozygous for a missense variant (parents were heterozygous, unaffected siblings were either heterozygous or homozygous for the wildtype allele); 24642510; 26436962; 25913210 Phenotypes for gene: ACTA1 were set to Nemaline myopathy 3, autosomal dominant or recessive 161800; CMD with rigid spine; Myopathy, congenital, with fiber-type disproportion 1 255310