2 Matching Annotations
  1. Last 7 days
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Can Systemic Sarcoidosis and Genetic Cardiomyopathy Coexist?
    2
    1. ClingenBaseline 05 Nov 2026
      A 16-year-old male patient

      Case2: 16-year-old male patient

      DiseaseAssertion: monomorphic VT

      FamilyInfo:NR

      ParentalTesting:NR

      CasePresentingHPOs:HP:0031676, HP:0033118, HP:0032643

      CaseHPOFreeText: Moderately decreased right ventricular (RV) function and moderate RV dilation. moderate myocyte hypertrophy with mild to moderate interstitial fibrosis and rare adipose tissue. Cervical, mediastinal, abdominal, and pelvic FDG-avid lymphadenopathy. myocyte hypertrophy with patchy interstitial fibrosis.

      CaseNotHPOs: NR

      CaseNotHPOFreeText:NR

      CasePreviousTesting:NR

      Genotyping Method:NR

      FunctionalAnalysis:NR

      Variant: NM_001005242.3:c.148_151del

      ClinVar: 45028

      CAID: CA011079

      gnomAD:NR

      AdditionalInfo:NR

      Gene:PKP2 HGNC:9024 InheritancePattern:NoInheritanceAssertion DiseaseEntity:General Zygosity:NoZygosityAssertion ClinVar:45028 CAID:CA011079 MultipleGeneVariants inferred_gene_hgnc:9024 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC13420677/