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    Glanzmann's thrombasthenia caused by homozygosity for a splice defect that leads to deletion of the first coding exon of the glycoprotein IIIa mRNA. - PubMed - NCBI
    1
    1. ClingenBaseline 21 Oct 2026

      Case1: Female, 29 years old, ethnicity not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: Parents were heterozygous for mutation (parents are first cousins)

      CasePresentingHPOs: HP:0001892, HP:0000421, HP:0000225, HP:0000132

      (Severe hemorrhagic diathesis, epistaxis, gingival bleeding, menorrhagia)

      CaseHPOFreeText: Patients severe hemorrhagic diathesis manifested as epistaxis

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      ProteinExpression: N/A

      PlateletAggregation: N/A

      CasePreviousTesting: Amplification of reversely transcribed platelet GP IIIa mRNA by the polymerase chain reaction and subsequent sequence analysis showed a 86-bp deletion, which corresponds to exon i of the GP IIIa gene.

      Gene: ITGB3

      Variant: NM_000212.2:c.165+1G>T (No other assertion was made about the 2 other variants in this article, just this variant that is mentioned in this annotation)

      LegacyVariant: N/A

      ClinVar: 13560

      CAiD: CA400031853

      gnomAD: N/A

      CaseInfo Individual Gene:ITGB3 InheritancePattern:AutosomalRecessive DiseaseEntity:GlanzmannThrombasthenia Mutation:Intronic Zygosity:Homozygous ClinVarID:13560 CAiD:CA400031853 PreviousTesting:Partial ParentalTesting:FullPhase PlateletAggregation:NotReported ProteinExpression:NotReported inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    ncbi.nlm.nih.gov/pubmed/8471765