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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 24 Oct 2026

      Supplementary Table S1 & S2 Proband and Variant Information:

      Case72: GT76, Male, 54 years old, French

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: HP:0002239, HP:0032551

      (Gi bleeding, hemorrhoids)

      CaseHPOFreeText: Moderate bleeding syndrome

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: Type unknown for this proband

      PlateletAggregation: Absent platelet aggregation (See Supplementary Table 1)

      CasePreviousTesting: Sanger sequencing of ITGA2B and ITGB3

      Gene: ITGA2B

      Variant: NM_000419.3:c.2421G>A (p.Trp807Ter)

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA399796017

      gnomAD: N/A

      CaseInfo Individual InheritancePattern:NoInheritanceAssertion Gene:ITGA2B DiseaseEntity:GlanzmannThrombasthenia Mutation:Nonsense Zygosity:Homozygous CAiD: CA399796017 PreviousTesting:Full ProteinExpression:MinimalInformation PlateletAggregation:Reported SupplementalData inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3

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