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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:

      Case48: GT48, Male, 10 years old, French

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: HP:0031364, HP:0000421, HP:0001934

      (Ecchymosis, epistaxis, persistent bleeding after trauma)

      CaseHPOFreeText: Frequent hematomas

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: No serious episode of spontaneous bleeding

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

      PlateletAggregation: N/A (Not available for this proband see Supp Table S1)

      CasePreviousTesting: Sanger sequencing of ITGA2B and ITGB3

      Gene: ITGB3

      Variant: NM_000212.2:c.1094A>G (p.Asn365Ter) and NM_000212.2:c.1522del (p.Gln508Serfs*161)

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA400026292 and CA772541579

      gnomAD: N/A

      CaseInfo Individual Gene:ITGB3 DiseaseEntity:GlanzmannThrombasthenia InheritancePattern:NoInheritanceAssertion Mutation:Frameshift Zygosity:CompoundHeterozygous PreviousTesting:Full ProteinExpression:Reported CAiD:CA400026292 CAiD:CA772541579 PlateletAggregation:NotReported SupplementalData Mutation:Nonsense inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3

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