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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 23 Oct 2026

      Supplementary Table S1 & S2 Proband and Variant Information:

      Case15: GT18, Male, 20, French

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: HP:0031364, HP:0000978

      (Ecchymosis, easy bruising)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: Flow cytometry showed 10% expression of αIIbβ3 (See Supplementary Table 1)

      PlateletAggregation: Residual platelet aggregation (See Supplementary Table 1)

      CasePreviousTesting: Sanger sequencing of ITGA2B and ITGB3

      Gene: ITGA2B

      Variant: NM_000419.3:c.1201G>T (pGly401Cys) andNM_000419.3:c.2800G>T (p.Val934Phe)

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA399804280 and CA290946484

      gnomAD: N/A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:CompoundHeterozygous CAiD:CA399804280 CAiD:CA915940226 PreviousTesting:Full PlateletAggregation:MinimalInformation ProteinExpression:Reported SupplementalData inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3

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