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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Glanzmann Thrombasthenia in Two Iraqi-Jewish Siblings Is Caused by a Novel Splice Junction Mutation in the Glycoprotein IIb
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    1. ClingenBaseline 21 Oct 2026

      Case1: Male, 61 years old, Iraqi-Jewish origin

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: His sister is the other proband in this article

      ParentalGenotype: N/A

      CasePresentingHPOs: HP:0000225, HP:0000225, HP:0031364, HP:0002249

      (Gingival bleeding, epistaxis, ecchymosis, melena)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      ProteinExpression: Surface expression GPIIb/IIIa was 9% of normal

      PlateletAggregation: Platelet aggregation in response to thrombin, collagen, ADP and epinephrine was absent, whereas ristocetin induced aggregation was normal

      CasePreviousTesting: DNA fragments containing exons and flanking intronic regions of the GPIIb gene were amplified by PCR

      Gene: ITGA2B

      Variant: NM_000419.3:c.1947-2A>G

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA399801096

      gnomAD: N/A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Intronic Zygosity:NoZygosityAssertion CAiD:CA399801096 PreviousTesting:Partial ProteinExpression:Reported PlateletAggregation:Reported FamilyInfo:Minimal inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    pubmed.ncbi.nlm.nih.gov/9663713-glanzmann-thrombasthenia-in-two-iraqi-jewish-siblings-is-caused-by-a-novel-splice-junction-mutation-in-the-glycoprotein-iib/