9 Matching Annotations
  1. Oct 2026
  2. www.thieme-connect.com www.thieme-connect.com
    Untitled document
    8
    1. ClingenBaseline 27 Oct 2026
      14

      Case14: Female, Arab, age not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: Table 1 mentions family history available for the proband, however no specific details about family provided in paper

      ParentalGenotype: N/A

      CasePresentingHPOs: HP:0000421, HP:0000225, HP:0031364, HP:0000132

      (Epistaxis, gingival bleeding, ecchymosis, menorrhagia)

      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.409-2_419del

      LegacyVariant: N/A

      ClinVar: 2889

      CAiD: CA10575471

      gnomAD: N/A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia FamilyInfo:Minimal Zygosity:Homozygous Mutation:Intronic ProteinExpression:NotReported ClinVarID:2889 PlateletAggregation:NotReported CAiD:CA10575471 inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    2. ClingenBaseline 26 Oct 2026
      16

      Case16: Male, Arab, age not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: Table 1 mentions family history available for the proband, however no specific details about family provided in paper

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: N/A

      CasePreviousTesting: N/A

      Gene: ITGA2B

      Variant: NM_000419.3:c.409-2_419del

      LegacyVariant: N/A

      ClinVar: 2889

      CAiD: CA10575471

      gnomAD: N/A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Intronic Zygosity:Homozygous FamilyInfo:Minimal ProteinExpression:NotReported CAiD:CA10575471 ClinVarID:2889 PlateletAggregation:NotReported inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    3. ClingenBaseline 25 Oct 2026
      24

      Case24: Female, Iraq, age not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: Table 1 mentions family history available for the proband, however no specific details about family provided in paper

      ParentalGenotype: N/A

      CasePresentingHPOs: HP:0000421, HP:0031364, HP:0000132

      (Epistaxis, ecchymosis, menorrhagia)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: N/A

      PlateletAggregation: N/A

      CasePreviousTesting: N/A

      Gene: ITGB3

      Variant: NM_000419.3:c.409-2_419del

      LegacyVariant: N/A

      ClinVar: 2889

      CAiD: CA10575471

      gnomAD: N/A

      Individual CaseInfo Gene:ITGB3 InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Frameshift ProteinExpression:NotReported FamilyInfo:Minimal Zygosity:Homozygous CAiD:CA10575471 ClinVarID:2889 PlateletAggregation:NotReported inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    4. ClingenBaseline 25 Oct 2026
      18

      Case18: Female, Arab, age not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: Table 1 mentions family history available for the proband, however no specific details about family provided in paper

      ParentalGenotype: N/A

      CasePresentingHPOs: HP:0000421, HP:0031364

      (Epistaxis, ecchymosis)

      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.409-2_419del

      LegacyVariant: N/A

      ClinVar: 2889

      CAiD: CA10575471

      gnomAD: N/A

      Individual CaseInfo Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Intronic Zygosity:Homozygous FamilyInfo:Minimal ProteinExpression:NotReported PlateletAggregation:NotReported ClinVarID:2889 CAiD:CA10575471 inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    5. ClingenBaseline 24 Oct 2026
      22

      Case22: Female, Arab, age not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: Table 1 mentions family history available for the proband, however no specific details about family provided in paper

      ParentalGenotype: N/A

      CasePresentingHPOs: HP:0000421, HP:0000225, HP:0031364, HP:0000132)

      (Epistaxis, gingival bleeding, ecchymosis, menorrhagia)

      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.409-2_419del

      LegacyVariant: N/A

      ClinVar: 2889

      CAiD: CA10575471

      gnomAD: N/A

      Individual CaseInfo Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Intronic Zygosity:Homozygous FamilyInfo:Minimal ProteinExpression:NotReported PlateletAggregation:NotReported ClinVarID:2889 CAiD:CA10575471 inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    6. ClingenBaseline 23 Oct 2026
      17

      Case17: Female, Arab, age not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: Table 1 mentions family history available for the proband, however no specific details about family provided in paper

      ParentalGenotype: N/A

      CasePresentingHPOs: HP:0000421, HP:0000225, HP:0031364, HP:0000132, HP:0000132)

      (Epistaxis, gingival bleeding, ecchymosis, menorrhagia, melena)

      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.409-2_419del

      LegacyVariant: N/A

      ClinVar: 2889

      CAiD: CA10575471

      gnomAD: N/A

      Individual CaseInfo Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Intronic Zygosity:Homozygous FamilyInfo:Minimal ProteinExpression:NotReported ClinVarID:2889 CAiD:CA10575471 PlateletAggregation:NotReported inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    7. ClingenBaseline 23 Oct 2026
      15

      Case15: Male, Arab, age not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: Table 1 mentions family history available for the proband, however no specific details about family provided in paper

      ParentalGenotype: N/A

      CasePresentingHPOs: HP:0000421, HP:0000225

      (Epistaxis, gingival bleeding)

      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.409-2_419del

      LegacyVariant: N/A

      ClinVar: 2889

      CAiD: CA10575471

      gnomAD: N/A

      Individual CaseInfo Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Intronic Zygosity:Homozygous FamilyInfo:Minimal ProteinExpression:NotReported ClinVarID:2889 CAiD:CA10575471 PlateletAggregation:NotReported inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    8. ClingenBaseline 21 Oct 2026
      23

      Case23: Female, Arab, age not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: Table 1 mentions family history available for the proband, however no specific details about family provided in paper

      ParentalGenotype: N/A

      CasePresentingHPOs: HP:0000421, HP:0000132)

      (Epistaxis, menorrhagia)

      CaseHPOFreeText: Haematuria

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: N/A

      PlateletAggregation: N/A

      CasePreviousTesting: N/A

      Gene: ITGA2B

      Variant: NM_000419.3:c.409-2_419del

      LegacyVariant: N/A

      ClinVar: 2889

      CAiD: CA10575471

      gnomAD: N/A

      Individual CaseInfo Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Intronic Zygosity:Homozygous FamilyInfo:Minimal ProteinExpression:NotReported CAiD:CA10575471 ClinVarID:2889 PlateletAggregation:NotReported inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    thieme-connect.com/products/ejournals/pdf/10.1055/s-0038-1676348.pdf
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    pnas01058-0202.pdf
    1
    Visit annotations in context

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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC51405/pdf/pnas01058-0202.pdf