2 Matching Annotations
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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients
    2
    1. ClingenBaseline 23 Oct 2026
      GT-44b

      Case34: (GT-44) Female, age or ethnicity not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: Proband GT43-GT44 are related

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Bleeding severity: Information not available (See Supplementary Table 3)

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: Flow cytometry performed and CD41 and CD61 were observed (See Supplementary Table 3)

      PlateletAggregation: Minimal information (See Supplementary Table 3)

      CasePreviousTesting: DNA was extracted from peripheral blood samples from patients and family members, and Sanger sequencing and PCR was performed. Samples were processed for targeted sequencing using the available SHGp heme panel of 393 genes.

      Gene: ITGA2B

      Variant: NM_000419.3:c.1620G>C (p.Gln540His) and NM_000419.3:c.1616T>G (p.Leu539Arg)

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA399802407 and CA399802416

      gnomAD: N/A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:Heterozygous CAiD:CA399802407 PreviousTesting:Full FamilyInfo ProteinExpression:Reported PlateletAggregation:MinimalInformation inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    2. ClingenBaseline 22 Oct 2026
      GT-43

      Case33: (GT-43) Male, age or ethnicity not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: Proband GT43-GT44 are related

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Bleeding severity: Severe (See Supplementary Table 3)

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: Flow cytometry performed and CD41 and CD61 were observed (See Supplementary Table 3)

      PlateletAggregation: Minimal information (See Supplementary Table 3)

      CasePreviousTesting: DNA was extracted from peripheral blood samples from patients and family members, and Sanger sequencing and PCR was performed. Samples were processed for targeted sequencing using the available SHGp heme panel of 393 genes.

      Gene: ITGA2B

      Variant: NM_000419.3:c.1620G>C (p.Gln540His) and NM_000419.3:c.1616T>G (p.Leu539Arg)

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA399802407 and CA399802416

      gnomAD: N/A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:Homozygous CAiD:CA399802407 PreviousTesting:Full FamilyInfo ProteinExpression:Reported PlateletAggregation:MinimalInformation inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    ncbi.nlm.nih.gov/pmc/articles/PMC6375963/