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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Role of Whole-exome Sequencing in Phenotype Classification and Clinical Treatment of Pediatric Restrictive Cardiomyopathy
    1
    1. ClingenBaseline 09 Nov 2026
      Male

      Case1: 12 year old male

      DiseaseAssertion: RCM

      FamilyInfo:

      ParentalTesting: Sanger sequencing was deemed healthy.

      CasePresentingHPOs:HP:0012378, HP:0003546, HP:0002094, HP:0002240

      CaseHPOFreeText: High BNP, enlarged atrium, ST-T segment change, left ventricular restrictive filling in Table 2.

      CaseNotHPOs:

      CaseNotHPOFreeText:

      CasePreviousTesting: Routine blood tests, tuberculin tests, TTE, ECG, chest X-ray. MRI

      Genotyping Method: Sanger sequencing

      FunctionalAnalysis:

      Variant: CA021957

      ClinVar:

      CAID:

      gnomAD:

      AdditionalInfo:

      SupplementalData ClinVarID:CA021957 Zygosity:NoZygosityAssertion Variant:Missense DiseaseEntity:RCM inferred_gene_hgnc:11947 inferred_gene_source:CAID Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC5717861/