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    αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum
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    1. ClingenBaseline 21 Oct 2026
      Patient F4.II.1

      Case#: Male, 48

      Disease: Glazmann's Thrombasthenia Like Syndrome

      CasePresentingHPOs: HP:0001873, HP:0000421, HP:0031364, HP:0000225

      Thrombocytopenia, Epistaxis, Ecchymosis, Gingival bleeding

      CaseNotHPOs: NA

      FamilyInfo: Pedigree figure 1. Family history of thrombocytopenia.

      PlateletAgreggation: Decreased PLT aggregation and diminished ATP release with the agonists ADP, collagen, and AA, with normal ristocetin agglutination

      GenotypingMethod: Genetic analysis of ITGA2B and ITGB3 genes was performed by next-generation sequencing (NGS). Sanger sequencing used to confirm variants.

      ClinVar: 50232

      CAID: CA10575572

      Variant: NM_000419.5:c.3077G>A

      GnomAD: European non-Finnish 0.000008801 (1/113618)

      ExpressionEvidence: Level of expression on PLT surface determined by FCM: CD41a (GPIIb/IIIa) 49%, CD61 (GPIIIa) 44%, and CD42b (GPIb) 105%. Healthy control value range: CD41a (GPIIb/IIIa) (85-115%); CD61 (GPIIIa) (80-120%); CD42b (GPIb) (70-130%).

      CAID:CA10575572 CaseInfo Individual zygosity:Heterozygous InheritancePattern:AutosomalDominant Gene:ITGA2B inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    ncbi.nlm.nih.gov/pmc/articles/PMC7717987/