Hypothesis

A 52-year-old male patient

Case1: Male, 52 years old, ethnicity not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: One of the patient’s daughters carried the c.2437C>A mutation. The other daughter carried the c.1771_1772insG along with c.339C>G mutation, indicating that these mutations are on the same allele.

ParentalGenotype: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: Recurrent hemorrhagic symptoms, bleeding time >20 minutes and PFA-100 closure times were > 300 seconds

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

ProteinExpression: Flow cytometric analysis showed a clearly detectable but strongly reduced amount of surface expressed GPIIb and GPIIIa

PlateletAggregation: Platelets failed to aggregate in response to ADP, arachidonic acid, epinephrine, and collagen.

CasePreviousTesting: Sequencing of exons of GPIIb gene was performed

Gene: ITGA2B

Variant: NM_000419.3:c.1771dup (p.Asp560GlyfsX16), NM_000419.3:c.2437C>A (p.His782Asn)

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA915940334, CA399795907, CA500624465

gnomAD: N/A

CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Frameshift Mutation:Nonsense Mutation:Missense Zygosity:Heterozygous CAiD:CA915940334 CAiD:CA399795907 CAiD:CA500624465 FamilyInfo:Minimal ProteinExpression:Reported PlateletAggregation:Reported PreviousTesting:Partial inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3

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