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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Case report: cosegregation of a TPM1 in-frame deletion (p.Lys7del) with familial non-compaction cardiomyopathy (NCCM)
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    1. ClingenBaseline 09 Nov 2026
      22 years-old man

      Case#: 22-year-old man

      DiseaseAssertion: NCCM and mildly reduced LV function

      FamilyInfo: Mother and brothers have also been diagnosed with NCCM

      ParentalTesting: Mother had cardio magnetic resonance imaging done

      CasePresentingHPOs: not reported

      CaseHPOFreeText:

      CaseNotHPOs: HP:0001681, HP:0001279 Angina pectoris andSyncope

      CaseNotHPOFreeText: no arrhythmic events

      CasePreviousTesting: electrocardiogram, transthoracic echocardiography, cardiac-magnetic resonance imaging

      Genotyping Method: next generation sequencing

      FunctionalAnalysis: not reported

      Variant: NM_001018005.1:c.20_22del; p.Lys7del

      ClinVar:181682

      CAID:CA018708

      gnomAD:15-63042841-CAAG-C

      AdditionalInfo:

      CaseInfo Gene:TPM1 HGNC:12010 InheritancePattern:AutosomalDominant DiseaseEntity:Other Variant:Inframe Zygosity:Heterozygous “ClinVarID:181682” “CAID:CA018708” FamilyInfo inferred_gene_hgnc:12010 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC11026255/