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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 25 Oct 2026
      F7.II.2

      Case#: Female, 45 (age of diagnosis)

      Disease: Glazmann's Thrombasthenia Like Syndrome

      CasePresentingHPOs: HP:0001873, HP:0100646

      Thrombocytopenia, Thyroiditis

      CaseNotHPOs: NA

      FamilyInfo: Pedigree figure 1. Affected sister, 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: Not Found

      CAID: CA400034288

      Variant: NM_000212.3:c.2243A>C (ITGB3)

      GnomAD: Not Found

      ExpressionEvidence: Level of expression on PLT surface determined by FCM: CD41a (GPIIb/IIIa) 65%, CD61 (GPIIIa) 58%, and CD42b (GPIb) 116%. Healthy control value range: CD41a (GPIIb/IIIa) (85-115%); CD61 (GPIIIa) (80-120%); CD42b (GPIb) (70-130%).

      CAID:CA400034288 Individual CaseInfo zygosity:Heterozygous InheritancePattern:AutosomalDominant Gene:ITGB3 inferred_gene_hgnc:6156 inferred_gene_source:Gene_Name ClinGen ITGA2B/ITGB3
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    ncbi.nlm.nih.gov/pmc/articles/PMC7717987/