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| Hypertrophic cardiomyopathy v1.53 | ACTA1 | Rebecca Whittington commented on gene: 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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.52 | ACTA1 | Rebecca Whittington commented on gene: ACTA1: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.51 | ACTA1 | Rebecca Whittington reviewed gene: ACTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.45 | ACTA1 |
Ellen McDonagh 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 |
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