[NTR/ACTN2]

[inuli-create]

Preferred gene-related syndrome label
ACTN2-related cardiac and skeletal myopathy

Parent term (use OLS, or your favorite ontology browser)
MONDO:0012808

Synonyms
ACTN2 familial isolated dilated cardiomyopathy,
cardiomyopathy, dilated, 1AA, with or without LVNC,
cardiomyopathy, hypertrophic, 23, with or without LVNC,
CMD1AA,
dilated cardiomyopathy 1AA with or without left ventricular noncompaction,
dilated cardiomyopathy type 1AA,
familial isolated dilated cardiomyopathy caused by mutation in ACTN2

Definition
ACTN2 was first reported in association with autosomal dominant hypertrophic cardiomyopathy in humans in 2006 (Theis et al, 2006, PMID 17097056), dilated cardiomyopathy in 2010 (Zimmerman et al, 2010, PMID 20474083), left ventricular noncompaction in 2014 (Bagnall et al, 2014, PMID 25224718), restrictive cardiomyopathy in 2016 (Kostareva et al, 2016, PMID 27662471), and left-dominant arrhythmogenic cardiomyopathy in 2020 (Good et al, 2020, PMID 31956495). ACTN2 was also reported in association with walking difficulties and distal as well as proximal muscle weakness in 2019 (Savarese et al., 2019, PMID 30900782). ACTN2 was also found to cause recessive myopathy where it could also be a founder for variant patients with Palestinian ethnicity in 2024 (Donkervoort et al., 2024, PMID 38311799).

Definition source (Please give PubMed ID, if applicable, in format PMID:#######)
PMID:17097056, PMID:20474083, PMID:25224718, PMID:27662471, PMID:31956495, , PMID:38311799, , PMID:30900782

Children terms (if applicable) Should any existing terms be re-classified as children underneath this new proposed term?

Your nano-attribution (ORCID) or URL for a working group
https://orcid.org/0009-0001-3369-6513