Case1: Male, two years old, ethnicity not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

ProteinExpression: The expression levels of this mutant αIIbβ3 complex on the platelet surface were normal

PlateletAggregation: N/A (minimal information for the proband)

CasePreviousTesting: N/A

Gene: ITGB3

Variant: NM_000212.2:c.2248C>T (p.Arg750Ter)

LegacyVariant: (p.Arg724Ter)

ClinVar: 13564

CAiD: CA123246

gnomAD: MAF in the African population is 0.0006008 https://gnomad.broadinstitute.org/variant/17-45384950-C-T

Case1: Male, 9 years old,

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: One brother, with no signs of bleeding diathesis

ParentalGenotype: Father is heterozygous for the c.2268C>T mutation and the mother is compound heterozygous with the c.2268C>T variant and c.2330C>T variant

CasePresentingHPOs: HP:0000421 Epistaxis

CaseHPOFreeText: Submucosal bleeding, hematomas, excessive achilles tendon bleeding

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: The patient's αIIbβ3 receptor count was estimated approximately 50% of that measured in a healthy age-matched control by quantitative flow cytometry

PlateletAggregation: Complete absense of platelet aggregation in response to ADP, arachidonic acid, epinephrine, collagen

CasePreviousTesting: Direct sequencing of the patients αIIb and β3 genes was perforemed

Gene: ITGB3

Variant: NM_000212.2:c.2248C>T (p.Arg750Ter)

LegacyVariant: (p.Arg724Ter)

ClinVar: 13564

CAiD: CA123246 (p.Arg750Ter)

gnomAD: N/A