1 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Three novel β-propeller mutations causing Glanzmann thrombasthenia result in production of normally stable pro-αIIb, but variably impaired progression of pro-αIIbβ3 from endoplasmic reticulum to Golgi
    1
    1. ClingenBaseline 24 Oct 2026
      Patient 2

      Case2: Patient 2, diagnosed at 5 years, gender and ethnicity not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: HP:0000421, HP:0000225, HP:0000790

      (Epistaxis, gingival bleeding, hematuria)

      CaseHPOFreeText: Reduced clot retraction

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: Immunoblot analysis of platelet lysates showed no detectable pro-αIIb or mature αIIb in any of the patient samples. Trace amounts of Beta3 were detected in samples from this patient

      PlateletAggregation: Absent in vitro platelet aggregation in response to ADP, epinephrine and collagen but a normal initial phase response to ristocetin

      CasePreviousTesting: Polymerase chain reaction (PCR), single strand conformation polymorphism (SSCP) analysis, and DNA sequencing was performed for ITGA2B

      Gene: ITGA2B

      Variant: NM_000419.3:c.953C>G (p.Ser318Leu)

      LegacyVariant: p.Ser287Leu

      ClinVar: N/A

      CAiD: CA399804788

      gnomAD: N/A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:NoZygosityAssertion CAiD:CA399804788 PreviousTesting:Partial ProteinExpression:Reported PlateletAggregation:Reported inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC1569905/