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  1. Oct 2026
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum
    1
    1. ClingenBaseline 26 Oct 2026
      F5.III.1

      Case#: Female, 16

      Disease: Glazmann's Thrombasthenia Like Syndrome

      CasePresentingHPOs: HP:0000978,HP:0400008

      Bruising susceptibility, menometrorrhagia

      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 abnormal 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: CA399789515

      Variant: NM_000419.5:c.3020G>T

      GnomAD:Not Found

      ExpressionEvidence: Level of expression on PLT surface determined by FCM: CD41a (GPIIb/IIIa) 48%, CD61 (GPIIIa) 50%, and CD42b (GPIb) 104%. Healthy control value range: CD41a (GPIIb/IIIa) (85-115%); CD61 (GPIIIa) (80-120%); CD42b (GPIb) (70-130%).

      Gene:ITGA2B CAID:CA399789515 Individual zygosity:Heterozygous InheritancePattern:AutosomalDominant inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    ncbi.nlm.nih.gov/pmc/articles/PMC7717987/