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    Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders
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    1. ClingenBaseline 23 Oct 2026

      Case#: Downes_2019_BSS, male, age unknown, South-Asian ancestry reported

      DiseaseAssertion: BSS

      FamilyInfo: NR

      ParentalGenotype: NR

      CasePresentingHPOs: NR

      PlateletAggregation: NR

      CaseHPOFreeText: NR

      CaseNotHPOs:

      CaseNotHPOFreeText:

      ProteinExpression: NR

      CasePreviousTesting:

      GenotypingMethod: HTS panel described in supplementary table 3

      PreviouslyPublished:

      Gene: ITGA2B

      Variant: homozygous c.1005_1013del (p.His335_Leu338delinsGln)

      HGVS: NM_000419.5(ITGA2B):c.1005_1013del

      ClinVarID: 626948

      CAID:

      gnomAD: not found in v.2.1.1

      MultipleGeneVariants:

      Gene:ITGA2B ClinVarID:626948 Zygosity:Homozygous DiseaseAssertion:GlanzmannThrombasthenia Case Individual CaseInfo InheritancePattern:AutosomalRecessive inferred_gene_hgnc:8031 inferred_gene_source:ClinVar ClinGen ITGA2B/ITGB3
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    ashpublications.org/blood/article/134/23/2082/374932/Diagnostic-high-throughput-sequencing-of-2396