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[NTR/ACTN2] #8563

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inuli-create opened this issue Jan 12, 2025 · 2 comments · May be fixed by #8693
Open

[NTR/ACTN2] #8563

inuli-create opened this issue Jan 12, 2025 · 2 comments · May be fixed by #8693
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blocked Something needs to be done before work can proceed curate-athon tickets that will be worked on during a curate-athon February 2025 Curate-athon New term request question-ClinGen user request A request from an external user

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@inuli-create
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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

@sagehrke sagehrke added the user request A request from an external user label Jan 22, 2025
@sabrinatoro sabrinatoro added curate-athon tickets that will be worked on during a curate-athon February 2025 Curate-athon labels Feb 10, 2025
@nicolevasilevsky nicolevasilevsky self-assigned this Feb 13, 2025
nicolevasilevsky added a commit that referenced this issue Feb 14, 2025
close #8563
@nicolevasilevsky nicolevasilevsky added blocked Something needs to be done before work can proceed question-ClinGen labels Feb 14, 2025
@nicolevasilevsky
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Hi there! @sabrinatoro and I have a couple questions about this request, please see below.

  1. Could you please describe how is this new term related to OMIM:612158 Cardiomyopathy, dilated, 1AA, with or without LVNC?

This OMIM term is currently represented in Mondo as two separate terms:

  • 'dilated cardiomyopathy 1AA' (MONDO:0012808)
  • 'cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction' (MONDO:0800347) - this is an 'include term' in OMIM, which means it is a related disease that has the same genetic variation but it is a separate term. In Mondo, we represent this as two separate classes.

The synonyms you requested overlap with the primary label and included term on OMIM:612158

  • cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction
  • CMD1AA
  • cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction
  • CMH23

Question*: Is the term that you requested meant to lump these two OMIM terms?

  1. If this is meant to be a grouping term, we suggested the parent be “congenital myopathy” (MONDO:0019952) - how does that sound?

If any further clarification is needed, we'd be happy to have a call.

Thank you! 🌻

@inuli-create
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inuli-create commented Feb 17, 2025 via email

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