Hypertrophic cardiomyopathy - teen and adult

Gene: ACTA1

Red List (low evidence)

ACTA1 (actin, alpha 1, skeletal muscle)
EnsemblGeneIds (GRCh38): ENSG00000143632
EnsemblGeneIds (GRCh37): ENSG00000143632
OMIM: 102610, Gene2Phenotype
ACTA1 is in 13 panels

2 reviews

Rebecca Whittington (South West GLH)

I don't know

?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

Ellen McDonagh (Genomics England Curator)

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.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Literature
Phenotypes
  • Hypertrophic cardiomyopathy
  • Dilated cardiomyopathy
OMIM
102610
Clinvar variants
Variants in ACTA1
Penetrance
Complete
Publications
  • 16945537
  • doi:10.​1007/​s12265-016-9673-5
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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

19 Feb 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ACTA1 was added to Hypertrophic Cardiomyopathypanel. Sources: Literature

19 Feb 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ACTA1 was created by ellenmcdonagh