5 Matching Annotations
  1. Oct 2026
  2. watermark.silverchair.com watermark.silverchair.com
    2-12-2179.pdf
    1
    1. ClingenBaseline 27 Oct 2026
      The patient

      Case1: Gender, age, ethnicity not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Lifelong bleeding tendency with prolonged bleeding time

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      ProteinExpression:

      PlateletAggregation: Absence of in vitro platelet aggregation seen in thrombasthenia (all the information we are provided with)

      CasePreviousTesting: RT-PCR on total RNA extracted from the patient's platelets followed by direct sequencing of die PCR products using GPIIb and GPIIIa primers described elsewhere

      Gene: ITGB3

      Variant: (p.Arg240Trp)

      LegacyVariant: (p.Arg214Trp)

      ClinVar: 13555

      CAiD: CA123228

      gnomAD: MAF in the East Asian population is 0.00005437 https://gnomad.broadinstitute.org/variant/17-45363729-C-T

      PreviouslyPublished: PMID: 3818957 and Reference 10 in this article

      CaseInfo Individual Gene:ITGB3 InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:Homozygous CAiD:CA123228 ClinVarID:13555 PreviousTesting:Full ProteinExpression:NotReported PlateletAggregation:MinimalInformation PreviouslyPublished inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    watermark.silverchair.com/2-12-2179.pdf
  3. watermark.silverchair.com watermark.silverchair.com
    1108.pdf
    1
    1. ClingenBaseline 25 Oct 2026
      Therefore, we wondered whether DTT could expose the fibrinogen binding site on platelets isolated from a patient with GTV. The all& on the platelets of this patient have an Arg + Trp mutation at position 214 of P3, and the platelets fail to aggregate or to bind fibrinogen in response to physiologic agonists despite sufficient surface expression of the complex."

      Case1: (M.S) Female, 19 years old, Caucasian

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: The mutation has been inherited from proband's parents who are heterozygous for the same mutation the proband has.

      CasePresentingHPOs: HP:0000978 (Bruising)

      CaseHPOFreeText: Intracerebral hematoma

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: See Fig 4 for flow cytometry analysis of protein expression

      PlateletAggregation: Absence of platelet aggregation in response to all agonists tested i.e. ADP, collagen, platelet activating factor acether thrombin, and arachidonic acid; however, ristocetin induced platelet aggregation was normal

      CasePreviousTesting: Sequenced patient's GPIIIa exons encompasing a highlight conserved reion of GPIIIa.

      Gene: ITGB3

      Variant: NM_000212.2:c.718C>T (p.Arg240Trp)

      LegacyVariant: (p.Arg214Trp)

      ClinVar: 13555

      CAiD: CA123228

      gnomAD: MAF in the East Asian population is 0.00005437 http://gnomad.broadinstitute.org/variant/17-45363729-C-T

      PreviouslyPublished: PMID: 1602006

      CaseInfo Individual Gene:ITGB3 InheritancePattern:AutosomalRecessive DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:Homozygous ClinVarID:13555 CAiD:CA123228 PreviousTesting:Partial ParentalTesting:FullPhase PlateletAggregation:Reported ProteinExpression:Reported PreviouslyPublished inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    watermark.silverchair.com/1108.pdf
  4. reader.elsevier.com reader.elsevier.com
    Hematologically Important Mutations: Glanzmann Thrombasthenia
    2
    1. ClingenBaseline 25 Oct 2026
      Strasbourg I

      Case29: Strasbourg 1

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: Bruising HP:0000978

      CaseHPOFreeText: Hematoma

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: N/A

      PlateletAggregation: N/A

      CasePreviousTesting: N/A

      Gene: ITGB3

      Variant: NM_000212.2:c.718C>T (p.Arg240Trp)

      LegacyVariant: N/A

      ClinVar: 13555

      CAiD: CA123228

      gnomAD: MAF in the East Asian population is 0.00005437 https://gnomad.broadinstitute.org/variant/17-45363729-C-T

      PreviouslyPublished: Ref 46, 47

      CaseInfo Individual Gene:ITGB3 InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:Homozygous ProteinExpression:NotReported PlateletAggregation:NotReported CAiD:CA123228 PreviouslyPublished ClinVarID:13555 inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    2. ClingenBaseline 23 Oct 2026
      Substitution49CMVariantHomozygote718C

      Case30: Patient CM

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: HP:0000421, HP:0000225, HP:0000132

      (Epistaxis, gingival bleeding, menorrhagia)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: N/A

      PlateletAggregation: N/A

      CasePreviousTesting: N/A

      Gene: ITGB3

      Variant: NM_000212.2:c.718C>T (p.Arg240Trp)

      LegacyVariant: N/A

      ClinVar: 13555

      CAiD: CA123228

      gnomAD: MAF in the East Asian population is 0.00005437 https://gnomad.broadinstitute.org/variant/17-45363729-C-T

      PreviouslyPublished: Reference 48 and 49

      CaseInfo Gene:ITGB3 InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:Homozygous ProteinExpression:NotReported PlateletAggregation:NotReported PreviouslyPublished ClinVarID:13555 CAiD:CA123228 inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    reader.elsevier.com/reader/sd/pii/S1079979697901170
  5. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    jcinvest00066-0307.pdf
    1
    1. ClingenBaseline 23 Oct 2026
      Thepatient(M.S.)

      Case1: (M.S) Female, 19 years old, Caucasian

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: The mutation has been inherited from proband's parents who are heterozygous for the same mutation the proband has.

      CasePresentingHPOs: HP:0000978 (Bruising)

      CaseHPOFreeText: Intracerebral hematoma

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: See Fig 4 for flow cytometry analysis of protein expression

      PlateletAggregation: Absence of platelet aggregation in response to all agonists tested i.e. ADP, collagen, platelet activating factor acether thrombin, and arachidonic acid; however, ristocetin induced platelet aggregation was normal

      CasePreviousTesting: Sequenced patient's GPIIIa exons encompasing a highlight conserved reion of GPIIIa.

      Gene: ITGB3

      Variant: NM_000212.2:c.718C>T (p.Arg240Trp)

      LegacyVariant: (p.Arg214Trp)

      ClinVar: 13555

      CAiD: CA123228

      gnomAD: MAF in the East Asian population is 0.00005437 http://gnomad.broadinstitute.org/variant/17-45363729-C-T

      CaseInfo Individual Gene:ITGB3 InheritancePattern:AutosomalRecessive DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:Homozygous ClinVarID:13555 CAiD:CA123228 PreviousTesting:Partial ParentalTesting:FullPhase PlateletAggregation:Reported ProteinExpression:Reported inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    ncbi.nlm.nih.gov/pmc/articles/PMC295902/pdf/jcinvest00066-0307.pdf