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    Tanaka_et_al-2002-British_Journal_of_Haematology.pdf
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    1. ClingenBaseline 23 Oct 2026
      The patient

      Case1: Female, 21 years old, ethnicity not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: Blood samples collected from brother, no other information provided

      ParentalGenotype: Father heterozygous: NM_000419.3:c.258G>C and mother heterozygous: NM_000419.3:c.2334A>C

      CasePresentingHPOs: HP:0000421, HP:0000979

      (Epistaxis, purpura)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: Flow cytometry analysis and western blot analysis showed a remarkable reduction in aIIb b3 and aIIb, and a moderate reduction in b3 in the platelets of the patient (data not shown)

      PlteletAggregation: N/A

      CasePreviousTesting: Nucleotide sequences of aIIb cDNA and b3 cDNA amplified by reverse transcription polymerase chain reaction (RT-PCR) were analyzed

      Gene: ITGA2B

      Variant: NM_000419.3:c.258G>C (p.Leu86Pro) and NM_000419.3:c.2334A>C

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA500624524 and CA399796662

      gnomAD: N/A

      CaseInfo Individual Gene:ITGA2B DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:CompoundHeterozygous CAiD:CA915940226 CAiD:CA399796662 PreviousTesting:Full ProteinExpression:Reported FamilyInfo:Minimal InheritancePattern:AutosomalRecessive ParentalTesting:FullPhase PlateletAggregation:NotReported inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3

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