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    How I manage pregnancy in women with Glanzmann thrombasthenia
    1
    1. ClingenBaseline 24 Oct 2026
      Case 2

      Case#: Case 2, 20 yo Female

      DiseaseAssertion: Glanzman thrombasthenia

      ParentalGenotype: Not provided

      CasePresentingHPOs: (HP:0000978, Bruising susceptibility) (HP:0000421, Epistaxis)

      PlateletAggregation: Strong reduction of platelet aggregation with all agonists, except ristocetin. Normal platelet count.

      CaseHPOFreeText:

      CaseNotHPOs:

      CaseNotHPOFreeText:

      ProteinExpression: Flow cytometry, platelets with 18% to 24% residual αIIbβ3

      CasePreviousTesting: Not provided

      PreviouslyPublished: Not provided

      Gene: ITGB3

      HGVS: NM_000212.3:c.187C>T

      ClinVar: 631774 https://www.ncbi.nlm.nih.gov/clinvar/variation/631774/

      CAID: CA8622892

      gnomAD: PopMax = 0.00002555 https://gnomad.broadinstitute.org/variant/17-47283375-C-T?dataset=gnomad_r4

      Gene: ITGB3

      HGVS: NM_000212.3:c.505C>T

      ClinVar: 953061 https://www.ncbi.nlm.nih.gov/clinvar/variation/953061/

      CAID: CA291224658

      gnomAD: PopMax = 2.800e-7 https://gnomad.broadinstitute.org/variant/17-47284586-C-T?dataset=gnomad_r4

      DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Mutation:Nonsense Zygosity:CompoundHeterozygous PreviousTesting:Incomplete ProteinExpression:MinimalInformation PlatletAggregation:MinimalInformation ClinVarID:631774 CAid:CA8622892 ClinVarID:953061 CAid:CA291224658 inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    sciencedirect.com/science/article/pii/S0006497122003743
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    REV_ISS_WEB_BJH_14283_175-4 686..695
    1
    1. ClingenBaseline 23 Oct 2026

      Supplementary Table S1:

      Case6: GT7, French, gender and age not specified

      DiseaseAssertion: Glanzmann thrombasthenia type I

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: All patients had a life-long history of mucocutaneous bleeding

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: All patients in this study met the clinical and platelet function requirements for GT-- this includes an absent or strongly reduced expression of alphaIIbBeta3 in platelets

      PlateletAggregation: All patients in this study met the clinical and platelet function requirements for GT-- this includes absent or severely reduced platelet aggregation with at least three physiological agonists

      CasePreviousTesting: Sanger sequencing was performed. Sanger sequencing ensured coverage of all exons and splice sties of the ITGA2B and ITGB3 genes and extended 300-500 bp into the introns as well as including the UTR. They sequenced 416 bp upstream of the ITGA2B promoter and 463 bp upstream of the ITGB3 promoter. In total they sequenced 51.2% of the ITGA2B gene and 19.4% of the larger ITGB3 gene

      Gene: ITGB3

      Variant: NM_000212.2:c.187C>T (p.Arg63Cys) and NM_000212.2:c.505C>T (p.Arg169Ter)

      LegacyVariant: N/A

      ClinVar: 631774

      CAiD: CA8622892 and CA291224658

      gnomAD: MAF in the East Asian population is 0.00005012 https://gnomad.broadinstitute.org/variant/17-45360741-C-T

      CaseInfo Individual Gene:ITGB3 InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Mutation:Nonsense Zygosity:CompoundHeterozygous CAiD:CA8622892 CAiD:CA291224658 PreviousTesting:Full ProteinExpression:MinimalInformation PlateletAggregation:MinimalInformation SupplementalData inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3

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