8 Matching Annotations
  1. Last 7 days
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Identification of variants in genes associated with hypertrophic cardiomyopathy in Mexican patients
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC10657276/
  3. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Identification of a novel missense mutation in the TPM1 gene via exome sequencing in a Chinese family with dilated cardiomyopathy: A case report and literature review
    2
    2. ClingenBaseline 02 Nov 2026
      The proband (II-1) was a 40-year-old Chinese Han male born at full term after an uncomplicated pregnancy and delivery.

      Case#: Proband(II-1)

      DiseaseAssertion: DCM1Y

      FamilyInfo: Chinese Han family with DCM phenotypes.

      ParentalTesting: not reported

      CasePresentingHPOs: HP:0001644

      CaseHPOFreeText: Proband diagnosed with dilated cardiomyopathy and found to carry a TPM1 variant.

      CaseNotHPOs: not reported

      CaseNotHPOFreeText: not reported

      CasePreviousTesting: not reported

      Genotyping Method: Next-generation sequencing (NGS), confirmed by Sanger sequencing

      FunctionalAnalysis: none reported

      Variant: TPM1 c.340G>C (p.E114Q) missense variant

      ClinVar: not found

      CAID: CA392721071

      gnomAD:

      AdditionalInfo:

      CAID:CA392721071 OpenAccess Gene:TPM1 inferred_gene_hgnc:12010 inferred_gene_source:CAID Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC8758022/
  4. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    De Novo Asp219Val Mutation in Cardiac Tropomyosin Associated with Hypertrophic Cardiomyopathy
    2
    1. ClingenBaseline 02 Nov 2026
      A young girl, 11 years old, died suddenly without any specific trigger factor during her usual daily activities.

      Case#: 11 year old girl

      DiseaseAssertion: hypertrophic cardiomyopathy

      FamilyInfo: unremarkable

      ParentalTesting: Both parents were tested and neither carried the variant

      CasePresentingHPOs: HP:0001639 HP:0011675

      CaseHPOFreeText: Post-mortem examination revealed asymmetric non-obstructive hypertrophy of the interventricular septum.

      CaseNotHPOs: Syncope absent

      CaseNotHPOFreeText: No complaints, normal exercise tolerance, no syncope, no medications, and no significant family history.

      CasePreviousTesting: Autopsy and sudden cardiac death investigation.

      Genotyping Method: Genetic testing performed as part of post-mortem investigation; familial cascade screening.

      FunctionalAnalysis:

      Variant: TPM1 c.656A>T (p.Asp219Val, p.D219V)

      ClinVar: absent

      CAID: CA2998480361

      gnomAD: absent

      AdditionalInfo: Variant classified as likely pathogenic (Class IV) by the authors and determined to be de novo.

      CAID:CA2998480361 OpenAccess Gene:TPM1 inferred_gene_hgnc:12010 inferred_gene_source:CAID Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC9820293/
  5. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Combinatorial interactions of genetic variants in human cardiomyopathy
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    pmc.ncbi.nlm.nih.gov/articles/PMC6433174/
  6. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Genetic Clues on Implantable Cardioverter-Defibrillator Placement in Young-Age Hypertrophic Cardiomyopathy: A Case Report of Novel MYH7 Mutation and Literature Review
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    pmc.ncbi.nlm.nih.gov/articles/PMC8733160/
  7. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Genetic Variants Are Not Rare in ICD Candidates with Dilated Cardiomyopathy: Time for Next-Generation Sequencing?
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC6507268/