4 Matching Annotations
  1. Last 7 days
  2. reader.elsevier.com reader.elsevier.com
    Hematologically Important Mutations: Glanzmann Thrombasthenia
    1
    1. ClingenBaseline 25 Oct 2026
      FLD

      Case5: Patient FLD (found in the GT database) gender and age are not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: HP:0000421, HP:0031364, HP:0006298

      (Epistaxis, Ecchymosis, Prolonged bleeding after tooth extraction)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: 2-5% GPIIIa and GPIIb surface expression

      PlateletAggregation: N/A

      CasePreviousTesting: N/A

      Gene: ITGA2B

      Variant: NM_000419.3:c.818G>A (p.Gly273Asp)

      LegacyVariant: (p.Gly242Asp)

      ClinVar: 2894

      CAiD: CA115837

      gnomAD: N/A

      PreviouslyPublished: 8282784

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:Homozygous ClinVarID:2894 CAiD:CA115837 ProteinExpression:Reported PlateletAggregation:NotReported PreviouslyPublished inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    reader.elsevier.com/reader/sd/pii/S1079979697901170
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    jcinvest00030-0184.pdf
    1
    1. ClingenBaseline 25 Oct 2026
      propositusisanAshkenaziJewishfemale

      Case: Female, Ashkenazi Jewish, 2 days old at presentation

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: consanguineous marriage, pedigree in Figure 4

      ParentalGenotype: Mother carrier of Gly273Asp. Father carrier of Gly273Asp.

      CasePresentingHPOs: HP:0100309, HP:0000978, HP:0003010, HP:0004866, HP:0008320, HP:0008148, HP:0000421, HP:0001975

      (subdural bleeding, extensive ecchymoses, prolonged cutaneous bleeding time, absent platelet aggregation in response to ADP, absent platelet aggregation in response to collagen, absent platelet aggregation in response to epinephrine, occasional epistaxis, markedly decreased number of GPIIb-IIIa heterodimers)

      CaseHPOFreeText: NA

      CaseNotHPOs: HP:0011873, HP:0011871

      (normal platelet count, normal platelet agglutination in response to ristocetin)

      CaseNotHPOFreeText: NA

      ProteinExpression: <5% of the normal amount of GPIIb-GPIIIa; measured by flow cytometry

      CasePreviousTesting: PCR amplification of genomic DNA and DNA sequence analysis of the GPIIb coding sequence only.

      Gene: ITGA2B

      Variant: NM_000419.3:c.818G>A p.(Gly273Asp)

      LegacyVariant: NA

      ClinVar: 2894

      CAID: CA115837

      gnomAD: NA

      Individual CaseInfo Gene:ITGA2B InheritancePattern:AutosomalRecessive DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:Homozygous ClinVarID:2894 CAid:CA115837 PreviousTesting:Incomplete ParentalTest:FullPhase ProteinExpression:Reported inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    ncbi.nlm.nih.gov/pmc/articles/PMC293750/pdf/jcinvest00030-0184.pdf
  4. Local file Local file
    Jackson_et_al-2017-European_Journal_of_Biochemistry.pdf
    1
    1. ClingenBaseline 24 Oct 2026
      Type I thrombasthenic patient, FLD

      Case3: Patient FLD

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs:

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: N/A

      PlateletAggregation: N/A

      CasePreviousTesting: N/A

      Gene: ITGA2B

      Variant: NM_000419.3:c.818G>A (p.Gly273Asp)

      LegacyVariant: (G242D)

      ClinVar: 2894

      CAiD: CA115837

      gnomAD: N/A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:Homozygous CAiD:CA115837 ClinVarID:2894 ProteinExpression:NotReported PlateletAggregation:NotReported inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3

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  5. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    High-level transgene expression in induced pluripotent stem cell–derived megakaryocytes: correction of Glanzmann thrombasthenia
    1
    1. ClingenBaseline 23 Oct 2026
      GTP2

      Case2: GTP2, gender, age, or ethnicity not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: N/A

      PlateletAggregation: N/A

      CasePreviousTesting: N/A

      Gene: ITGA2B

      Variant: NM_000419.3:c.818G>A (p.Gly273Asp)

      LegacyVariant: N/A

      ClinVar: 2894

      CAiD: CA115837

      gnomAD: N/A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:NoZygosityAssertion ProteinExpression:NotReported PlateletAggregation:NotReported CAiD:CA115837 ClinVarID:2894 inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    ncbi.nlm.nih.gov/pmc/articles/PMC3907760/