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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 22 Oct 2026
      F6.II.4

      Case#: Female, 30 (age of diagnosis)

      Disease: Glazmann's Thrombasthenia Like Syndrome

      CasePresentingHPOs: HP:0000225, HP:0000978, HP:0006298

      Gingival bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction

      CaseNotHPOs: NA

      FamilyInfo: Pedigree figure 1. Father and two daughters affected.

      PlateletAgreggation: Family member studied: 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: CA400034251

      Variant: NM_000212.3:c.2236A>C (ITGB3)

      GnomAD: Not Found

      ExpressionEvidence: Level of expression on PLT surface determined by FCM: CD41a (GPIIb/IIIa) 38%, CD61 (GPIIIa) 41%, and CD42b (GPIb) 85%. Healthy control value range: CD41a (GPIIb/IIIa) (85-115%); CD61 (GPIIIa) (80-120%); CD42b (GPIb) (70-130%).

      CAID:CA400034251 zygosity:Heterozygous InheritancePattern:AutosomalDominant CaseInfo Individual 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/