2 Matching Annotations
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    CPLA_A_343654_P 35..40
    2
    1. ClingenBaseline 24 Oct 2026
      11

      Case11: Female, 5 years old, Indian

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: Sibling is proband number 12 in this article

      ParentalGenotype: N/A

      CasePresentingHPOs: HP:0031364, HP:0000421 (Ecchymosis, epistaxis)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      ProteinExpression: Diagnosis of GT was made on the basis of quantitive determination of receptor count by flow cytometric analysis of GPIIb-IIIa

      PlateletAggregation: Diagnosis of GT was made on the basis of impaired platelet aggregation (platelet aggregation was tested against ristocetin, ADP, collagen, epinephrine and arachidonic acid)

      CasePreviousTesting: Multiplex PCR by using GPIIb primers and CSGE analysis were performed

      Gene: ITGA2B

      Variant: NM_000419.3:c.1600+1G>A

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA399802454

      gnomAD: N/A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Intronic Zygosity:NoZygosityAssertion CAiD:CA399802454 PreviousTesting:Partial ProteinExpression:Reported PlateletAggregation:Reported inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    2. ClingenBaseline 22 Oct 2026
      12

      Case12: Male, 3 years old, Indian

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: Sibling is proband number 11 in this article

      ParentalGenotype: N/A

      CasePresentingHPOs: HP:0002249, HP:0000421 (Melena, epistaxis)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      ProteinExpression: Diagnosis of GT was made on the basis of quantitive determination of receptor count by flow cytometric analysis of GPIIb-IIIa

      PlateletAggregation: Diagnosis of GT was made on the basis of impaired platelet aggregation (platelet aggregation was tested against ristocetin, ADP, collagen, epinephrine and arachidonic acid)

      CasePreviousTesting: Multiplex PCR by using GPIIb primers and CSGE analysis were performed

      Gene: ITGA2B

      Variant: NM_000419.3:c.1600+1G>A

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA399802454

      gnomAD: N/A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Intronic Zygosity:NoZygosityAssertion CAiD:CA399802454 PreviousTesting:Partial ProteinExpression:Reported PlateletAggregation:Reported FamilyInfo:Minimal inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3

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