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  1. Last 7 days
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort
    3
    1. ClingenBaseline 09 Nov 2026
      EO27 yes TNNT2 14 c.794A>T Lys265Ile MISSENSE

      Case#: E027

      DiseaseAssertion: Early onset hypertrophic cardiomyopathy

      FamilyInfo: Familiarity case reported as "yes"

      ParentalTesting: Not reported

      CasePresentingHPOs: HP:0001639

      CaseHPOFreeText: Not reported

      CaseNotHPOs: Not reported

      CaseNotHPOFreeText: Not reported

      CasePreviousTesting: Not reported

      Genotyping Method: Next Generation Sequencing

      FunctionalAnalysis: Not reported

      Variant: c.794A>T (Lys265Ile)

      ClinVar: Not found

      CAID: CA005099

      gnomAD: Not found

      AdditionalInfo: Clinical significance: known/uncertain significance. Allele coverage: 193.

      CAID:CA005099 Variant:Missense Gene:TNNT2 DiseaseEntity:HCM InheritancePattern:AutosomalDominant HGNCID:11949 inferred_gene_hgnc:11949 inferred_gene_source:HGNC_body Cardiomyopathy Annotation
    3. ClingenBaseline 09 Nov 2026
      EO34 yes TNNT2 9 c.281G>C Arg94Thr MISSENSE

      Case#: E034

      DiseaseAssertion: Early onset hypertrophic cardiomyopathy

      FamilyInfo: Familiarity case reported as "yes"

      ParentalTesting: Not reported

      CasePresentingHPOs: HP:0001639

      CaseHPOFreeText: Not reported

      CaseNotHPOs: Not reported

      CaseNotHPOFreeText: Not reported

      CasePreviousTesting: Not reported

      Genotyping Method: Next Generation Sequencing

      FunctionalAnalysis: Not reported

      Variant: c.281G>C (Arg94Thr)

      ClinVar: Not found

      CAID: CA004216

      gnomAD: Not found

      AdditionalInfo: Clinical Significance: Known/uncertain significance. Allele coverage 196

      CAID:CA004216 Gene:TNNT2 Variant:Missense InheritancePattern:AutosomalDominant HGNCID:11949 DiseaseEntity:HCM inferred_gene_hgnc:11949 inferred_gene_source:HGNC_body Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC5000637/
  3. Nov 2026
  4. 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
    2
    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/