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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:

      Case13: GT14, Female, 10, French

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: HP:0000979 and HP:0006298

      (Purpura, prolonged bleeding after dental extraction)

      CaseHPOFreeText: Moderate cutaneous bleeding from birth

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: Flow cytometry showed <5% variant expression of αIIbβ3 (See Supplementary Table 1)

      PlateletAggregation: Absent platelet aggregation (See Supplementary Table 1)

      CasePreviousTesting: Sanger sequencing of ITGA2B and ITGB3

      Gene: ITGA2B

      Variant: NM_000419.3:c.423G>T (p.Trp141Cys) and NM_000419.3:c.2902del (p.Tyr968Metfs*163)

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA399806022 and CA915940332

      gnomAD: N/A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Mutation:SingleNucleotideDeletion Zygosity:CompoundHeterozygous PreviousTesting:Full ProteinExpression:Reported PlateletAggregation:MinimalInformation CAiD:CA399806022 CAiD:CA915940332 SupplementalData inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3

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