21 Matching Annotations
  1. Last 7 days
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Subclinical Hypertrophic Cardiomyopathy in Elite Athletes: Knowledge Gaps Persist
    1
    1. ClingenBaseline 03 Nov 2026
      30-year-old c

      Case#: 30 year old female athlete

      DiseaseAssertion: Subclinical hypertrophic cardiomyopathy

      FamilyInfo: Her mother has HCM and the same ACTC1 gene change. Her grandmother and uncle on her mothers side died suddenly.

      ParentalTesting: Her mother tested positive for the ACTC1 gene change and there isn't any information about the father.

      CasePresentingHPOs: NR

      CaseHPOFreeText: The patient did not have dizziness, fainting, trouble breathing or chest pain. Her heart muscle was not thickened.

      CaseNotHPOs: NR

      CaseNotHPOFreeText: The patient sometimes felt her heart beating unusually during exercise. A heart MRI showed small changes in her heart muscle and heart valve.

      CasePreviousTesting: The patient had an ECG, heart ultrasound, heart monitor and heart MRI

      Genotyping Method:Sanger sequencing was used to test the ACTC1 gene.

      FunctionalAnalysis: NR

      Variant: ACTC1 p.Val11Leu

      Clinvar: 2947021

      CAID: CA391633409

      gnomAD: NR

      AdditionalInfo: The patient continued playing competitive sports and had regular heart checkups.

      CaseInfo Gene:ACTC1 HGNC:143 InheritancePattern:AutosomalDominant DiseaseEntity:HCM Variant:Missense Zygosity:Heterozygous FamilyInfo ClinVarID:2947021 CAID:CA3916333409 inferred_gene_hgnc:143 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC8784716/
  3. Oct 2026
  4. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A novel ACTC1 mutation in a young boy with left ventricular noncompaction and arrhythmias
    19
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC5412645/
  5. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC10029015/