3 Matching Annotations
  1. Oct 2026
  2. journals.plos.org journals.plos.org
    A Novel HRAS Mutation Independently Contributes to Left Ventricular Hypertrophy in a Family with a Known MYH7 Mutation
    3
    1. ClingenBaseline 24 Oct 2026
      his father (Fig 1, II.1) presented a mild LVH that did not require any pharmacological treatment.

      Case II-1: Italian, Male,

      DiseaseAssertion: Left ventricular hypertrophy

      CasePresentingHPOs:

      CaseHPOFreeText: interventricular septal and/or posterior wall thickness in end-diastole ≥15 mm

      CasePreviousTesting: M-mode-2D and color-Doppler study to analyze cardiac chamber dimensions, global systolic and diastolic function, valve and great arteries anomalies, echocardiography,

      CaseGenotypingMethod: exon 23 and flanking regionals analyzed via Sanger Sequencing, Variants found via exome sequencing tested for segregation in family by Sanger sequencing on an ABI PRISM 3130 DNA sequencer

      Variant: NM_000257.3:c.2795T>A

      CAID: CA389047028, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA389047028

      gnomAD: n/a

      Individual CaseInfo LVH CA389047028 inferred_gene_hgnc:7577 inferred_gene_source:CAID Cardiomyopathy Annotation
    2. ClingenBaseline 22 Oct 2026
      proband’s nephew (Fig 1, III.1) was diagnosed with HCM at 17 years

      Case III-1: Italian, Male, diagnosed at 17yo

      DiseaseAssertion: Hypertrophic Cardiomyopathy

      CasePresentingHPOs:

      CaseHPOFreeText: interventricular septal and/or posterior wall thickness in end-diastole ≥15 mm, treated with beta-blockers

      CasePreviousTesting: M-mode-2D and color-Doppler study to analyze cardiac chamber dimensions, global systolic and diastolic function, valve and great arteries anomalies, echocardiography,

      CaseGenotypingMethod: exon 23 and flanking regionals analyzed via Sanger Sequencing, Variants found via exome sequencing tested for segregation in family by Sanger sequencing on an ABI PRISM 3130 DNA sequencer

      Variant: NM_000257.3:c.2795T>A

      CAID: CA389047028, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA389047028

      gnomAD: n/a

      Individual CaseInfo HCM CA389047028 inferred_gene_hgnc:7577 inferred_gene_source:CAID Cardiomyopathy Annotation
    3. ClingenBaseline 21 Oct 2026
      proband’s sister (Fig 1, II.2)

      Case II-2: Italian, Female

      DiseaseAssertion: severe obstructive hypertrophic cardiomyopathy

      CasePresentingHPOs:

      CaseHPOFreeText: interventricular septal and/or posterior wall thickness in end-diastole ≥15 mm, had surgical myectomy

      CasePreviousTesting: M-mode-2D and color-Doppler study to analyze cardiac chamber dimensions, global systolic and diastolic function, valve and great arteries anomalies, echocardiography,

      CaseGenotypingMethod: exon 23 and flanking regionals analyzed via Sanger Sequencing, Variants found via exome sequencing tested for segregation in family by Sanger sequencing on an ABI PRISM 3130 DNA sequencer

      Variant: NM_000257.3:c.2795T>A

      CAID: CA389047028, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA389047028

      gnomAD: n/a

      Individual CaseInfo HCM CA389047028 inferred_gene_hgnc:7577 inferred_gene_source:CAID Cardiomyopathy Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    journals.plos.org/plosone/article