2 Matching Annotations
  1. Oct 2026
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Glanzmann thrombasthenia in Pakistan: molecular analysis and identification of novel mutations
    2
    1. ClingenBaseline 26 Oct 2026
      D

      Case4: Patient ID D, Male, 10 years old, ethnicity not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: Related to Patient C

      ParentalGenotype: N/A

      CasePresentingHPOs: HP:0004406 (Recurrent epistaxis)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0000967, HP:0000979, HP:0000978, HP:0000225, HP:0002239, HP:0002239, HP:0000790, HP:0005261, HP:0002248

      (Petechiae, purpura, easy bruising, gingival bleeidng, GI bleeding, intracranial hemhorrage, hematuria, hemarthrosis, hematemesis)

      CaseNotHPOsFreeText: Hemorrhage after dental, hemorrhage after trauma, ear bleeding, hematoma

      ProteinExpression: N/A

      PlateletAggregation: Defective response to ADP, adrenaline, collagen, arachidonic acid, and normal response to ristocetin

      CasePreviousTesting: Exon PCR was used to amplify a;; coding regions of the ITGA2B and ITGB3 genes. PCR products were purified and Sanger sequenced. Segregation using parental samples was undertaken when available.

      Gene: ITGA2B

      Variant: NM_000419.3:c.1233C>A

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA399803781

      gnomAD: N/A

      PreviouslyPublished: PMID: 12424194

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Nonsense Zygosity:Homozygous CAiD:CA399803781 PreviousTesting:Full ProteinExpression:NotReported PlateletAggregation:Reported PreviouslyPublished inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    2. ClingenBaseline 22 Oct 2026
      C

      Case3: Patient ID C, Male, 12 years old, ethnicity not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Hematoma

      CaseNotHPOs: HP:0000967, HP:0000979, HP:0000978, HP:0004406, HP:0000225, HP:0002239, HP:0002239, HP:0000790, HP:0005261, HP:0002248

      (Petechiae, purpura, easy bruising, recurrent epistaxis, gingival bleeding, gastrointestinal bleeding, intracranial hemorrhage, hematuria, hemarthrosis, hematemesis)

      CaseNotHPOsFreeText: Hemhorrage after dental, hemhorrage after trauma, ear bleeding

      ProteinExpression: N/A

      PlateletAggregation: Defective response to ADP, adrenaline, collagen, arachidonic acid, and normal response to ristocetin

      CasePreviousTesting: Exon PCR was used to amplify a;; coding regions of the ITGA2B and ITGB3 genes. PCR products were purified and Sanger sequenced. Segregation using parental samples was undertaken when available.

      Gene: ITGA2B

      Variant: NM_000419.3:c.1233C>A

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA399803781

      gnomAD: N/A

      PreviouslyPublished: PMID: 12424194

      CaseInfo Individual DiseaseEntity:GlanzmannThrombasthenia InheritancePattern:NoInheritanceAssertion Mutation:Nonsense Zygosity:Homozygous CAiD:CA399803781 PreviousTesting:Full ProteinExpression:NotReported PlateletAggregation:Reported Gene:ITGA2B PreviouslyPublished inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4737203/