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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Patient-specific induced pluripotent stem cell properties implicate Ca2+-homeostasis in clinical arrhythmia associated with combined heterozygous RYR2 and SCN10A variants
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    2. ClingenBaseline 02 Nov 2026
      The proband, a four-month-old boy, presented with polymorphic ventricular tachycardia.

      Case#: 4 month old boy

      DiseaseAssertion: Polymorphic ventricular tachycardia

      FamilyInfo: His father carried the RYR2 variant and had ventricular premature beats. His mother carried the SCN10A variant and was asymptomatic.

      ParentalTesting: Yes. Familial genetic testing showed the RYR2-A1855D variant was inherited from the father and the SCN10A-Q1362H variant was inherited from the mother.

      CasePresentingHPOs: HP:0004756

      CaseHPOFreeText: 4-month-old male presenting with polymorphic ventricular tachycardia.

      CaseNotHPOs: not reported

      CaseNotHPOFreeText: not reported

      CasePreviousTesting: Clinical cardiac evaluation followed by genetic testing

      Genotyping Method: Genetic testing identified novel heterozygous RYR2-A1855D and SCN10A-Q1362H variants.

      FunctionalAnalysis: Functional studies showed abnormal calcium handling, prolonged action potentials, increased susceptibility to early afterdepolarizations, and disrupted Ca2+ homeostasis in cells carrying both variants.

      Variant: RYR2 (heterozygous) SCN10A

      ClinVar: not found

      CAID: not found

      gnomAD: not found

      AdditionalInfo:

      Gene:TNNT2 PMID:37122207 HGNCID:11949 inferred_gene_hgnc:11949 inferred_gene_source:HGNC_body Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC10150201/