Hypertrophic cardiomyopathy - teen and adultGene: ACTA1
?Myopathy, scapulohumeroperoneal (616852); Myopathy, actin, congenital, with cores (161800); Myopathy, congenital, with fiber-type disproportion 1 (255310); Nemaline myopathy 3, autosomal dominant or recessive (161800)
Created: 25 Mar 2019, 4:30 p.m.
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 five others had HCM, all childhood onset so needs to be on paediatric panel. 15520409 (2004) shows segregation of variants with disease in two multi generational families.
Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
On the Inherited Cardiac Condition Genes panel for Hypertrophic 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, 11:46 a.m.
Source South West GLH was added to ACTA1. Mode of inheritance for gene ACTA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
ACTA1 was added to Hypertrophic Cardiomyopathypanel. Sources: Literature
ACTA1 was created by ellenmcdonagh