Hypothesis

A 62‐year‐old Egyptian male

Case#: Male, 62, Egyptian

DiseaseAssertion: GT with concurrent platelet CD36 deficiency (~1 in 100 million) and anti‐CD36 antibodies

CasePresentingHPOs: HP:0000421,Epistaxis. HP:0000978, Bruising susceptibility. HP:0000225, Gingival bleeding. HP:0001903, Anemia. HP:0001934, Persistent bleeding after trauma. HP:0001058, Poor wound healing. HP:0002573, Hematochezia. HP:0005261, Joint hemorrhage.

PlateletAggregation: See Table 1. Normal platelet count. Normal platelet size, modestly elevated mean platelet volume. Normal response to ristocetin.

ProteinExpression: Flow cytometry. GPIb/IX Expression 108% (range: 65-124%); GPIIb/IIIa expression 0% (range:65-124%).

Gene: ITGA2B

Variant: c.2148dup, p.Leu717Alafs3X

HGVS: NM_000419.5:c.2148dup

ClinVar: 627273

CAID: CA915940304

gnomAD: Absent

Variant: c.1234G>A, p.Gly412Arg

HGVS: NM_000419.5:c.1234G>A

ClinVar: 381748

CAID: CA8603182

gnomAD: 0.00003236, https://gnomad.broadinstitute.org/variant/chr17-44381038-C-T?dataset=gnomad_r4

InheritancePattern:AutosomalRecessive DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:CompoundHeterozygous ClinVarID:627273 CAid:CA915940304 ClinVarID:381748 CAid:CA8603182 MultipleGeneVariants PreviousTesting:Full ProteinExpression:Reported PlateletAggregation:Reported inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3

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