3 Matching Annotations
  1. Oct 2026
  2. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    An αIIb mutation in patients with Glanzmann thrombasthenia located in the N‐terminus of blade 1 of the β‐propeller (Asn2Asp) disrupts a calcium binding site in blade 6
    3
    1. ClingenBaseline 26 Oct 2026
      Patient‐III6

      Case2: Female, Israeli-Arab, (age is either 3 or 8)

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: See Fig 1C for pedigree

      ParentalGenotype: See Fig 1C for pedigree

      CasePresentingHPOs: HP:0000421, HP:0031364, HP:0000967, HP:0002239

      (Severe epistaxis, ecchymosis, petechiae, GI bleeding)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      ProteinExpression: No surface expression of αIIbβ3 was found in patients’ platelets (See Fig 3)

      PlateletAggregation: N/A

      CasePreviousTesting: DNA fragments containing exons and flanking intronic regions of the aIIb and B3 genes were amplified by PCR using primers

      Gene: ITGA2B

      Variant: NM_000419.3:c.97A>G (p.Asn2Asp)

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA399806951

      gnomAD: N/A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:AutosomalRecessive DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:Homozygous CAiD:CA399806951 PreviousTesting:Full FamilyInfo ParentalTesting:FullPhase ProteinExpression:Reported PlateletAggregation:NotReported inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    2. ClingenBaseline 23 Oct 2026
      Patient‐III4

      Case1: Male, Israeli-Arab, (age is either 10 or 14)

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: See Fig 1C for pedigree

      ParentalGenotype: See Fig 1C for pedigree

      CasePresentingHPOs: HP:0000421, HP:0031364, HP:0000967

      (Severe epistaxis, ecchymosis, petechiae)

      CaseHPOFreeText: Decline of hemoglobin levels to 5 g dl each time epistaxis occurred

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      ProteinExpression: No surface expression of αIIbβ3 was found in patients’ platelets (See Fig 3)

      PlateletAggregation: N/A

      CasePreviousTesting: DNA fragments containing exons and flanking intronic regions of the aIIb and B3 genes were amplified by PCR using primers

      Gene: ITGA2B

      Variant: NM_000419.3:c.97A>G (p.Asn2Asp)

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA399806951

      gnomAD: N/A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:AutosomalRecessive DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:Homozygous CAiD:CA399806951 PreviousTesting:Full FamilyInfo ParentalTesting:FullPhase ProteinExpression:Reported PlateletAggregation:NotReported inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    3. ClingenBaseline 21 Oct 2026
      proband‐III2

      Case3: Male, Israeli-Arab, (age is either 10 or 14)

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: See Fig 1C for pedigree

      ParentalGenotype: See Fig 1C for pedigree

      CasePresentingHPOs: HP:0000421, HP:0031364, HP:0000967

      (Severe epistaxis, ecchymosis, petechiae)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      ProteinExpression: No surface expression of αIIbβ3 was found in patients’ platelets (See Fig 3)

      PlateletAggregation: Absent platelet aggregation in response to ADP, epinephrine, collagen and normal ristocetin-induced platelet agglutination

      CasePreviousTesting: DNA fragments containing exons and flanking intronic regions of the aIIb and B3 genes were amplified by PCR using primers

      Gene: ITGA2B

      Variant: NM_000419.3:c.97A>G (p.Asn2Asp)

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA399806951

      gnomAD: N/A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:AutosomalRecessive DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:Homozygous CAiD:CA399806951 PreviousTesting:Full FamilyInfo ParentalTesting:FullPhase ProteinExpression:Reported PlateletAggregation:Reported inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/j.1538-7836.2010.04087.x