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    Expanding the Mutation Spectrum Affecting &#x003B1;IIb&#x003B2;3 Integrin in Glanzmann Thrombasthenia: Screening of the <i>ITGA2B</i> and <i>ITGB3</i> Genes in a Large International Cohort
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    1. ClingenBaseline 21 Oct 2026

      Supplementary Table S1 & S2 Proband and Variant Information:

      Case51: GT51, Male, 29 years old, French/African

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: HP:0000421 (Epistaxis)

      CaseHPOFreeText: Mucocutaneous bleeding

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: N/A

      PlateletAggregation: Absent platelet aggregation (See Supplementary Table 1)

      CasePreviousTesting: Sanger sequencing of ITGA2B and ITGB3

      Gene: ITGB3

      Variant: NM_000212.2:c.861del (p.Arg287Serfs * 34) and NM_000212.2:c.1456del (p.Cys486Alafs * 183)

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA915940375 and CA915940376

      gnomAD: N/A

      CaseInfo Individual Gene:ITGB3 InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Zygosity:CompoundHeterozygous PreviousTesting:Full PlateletAggregation:MinimalInformation ProteinExpression:NotReported CAiD:CA915940375 CAiD:CA915940376 SupplementalData Mutation:Frameshift inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3

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