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[NTR/ACTN2] #8563
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Hi there! @sabrinatoro and I have a couple questions about this request, please see below.
This OMIM term is currently represented in Mondo as two separate terms:
The synonyms you requested overlap with the primary label and included term on OMIM:612158
Question*: Is the term that you requested meant to lump these two OMIM terms?
If any further clarification is needed, we'd be happy to have a call. Thank you! 🌻 |
Hi Sabrina and Nicole,
During our HCVD GCEP we decided to lump ACTN2 together to represent cardiac and skeletal myopathies.
1. The new term is meant to represent ACTN2 causing skeletal myopathies as well as cardiac myopathy. If they are represented as 2 separate terms, then I think we can leave it as is.
2. I think we are trying to not say ‘congenital myopathy’ as the literature has not shown us that there is congenital myopathy related to ACTN2, however we are working with the Muscular Dystrophies and Myopathies GCEP if we wanted to lump the two terms together?
Sorry if this doesn’t make sense, I’m happy to hop on a call as well to talk about it more.
Kind regards,
Inuli Subasinghe (she/her)
Research Assistant | Clinical Genomics Laboratory
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From: Nicole Vasilevsky ***@***.***>
Date: Saturday, 15 February 2025 at 9:59 AM
To: monarch-initiative/mondo ***@***.***>
Cc: Inuli Subasinghe ***@***.***>, Author ***@***.***>
Subject: Re: [monarch-initiative/mondo] [NTR/ACTN2] (Issue #8563)
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Hi there! @sabrinatoro<https://github.com/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<https://omim.org/entry/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! 🌻
—
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[nicolevasilevsky]nicolevasilevsky left a comment (monarch-initiative/mondo#8563)<#8563 (comment)>
Hi there! @sabrinatoro<https://github.com/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<https://omim.org/entry/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! 🌻
—
Reply to this email directly, view it on GitHub<#8563 (comment)>, or unsubscribe<https://github.com/notifications/unsubscribe-auth/BNDKF2TZYIU2EEMAAAAR3Z32PZYOJAVCNFSM6AAAAABVBPEXOSVHI2DSMVQWIX3LMV43OSLTON2WKQ3PNVWWK3TUHMZDMNRQGQZTGMJWGU>.
You are receiving this because you authored the thread.Message ID: ***@***.***>
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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
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