Case1: (Patient LD) Female, 3 years old, ethnicity not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: See Fig 4 for family pedigree

ParentalGenotype: Father is heterozygous for GC867-G and Mother is heterozygous for T882C (See Fig 4)

CasePresentingHPOs: HP:0000967, HP:0031364, HP:0000978, HP:0000225

(Petechiae, ecchymosis, bruising, gingival bleeding)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Fig 2A shows reduced expression (See Fig2A)

PlateletAggregation: Platelets did not aggregate in response to ADP, epinephrine, or arachidonic acid and showed only shape change in response to collagen. Platelets did agglutinate with ristocetin.

CasePreviousTesting: Genomic DNA was prepared from peripheral blood leukocytes and amplified by polymerase chain reaction (PCR) with Taq polymerase by using oligonucleotide primers from intronic flanking sequences of αIIb and β3. All exons of both genes were sequenced at least twice to exclude Taq errors.

Gene: ITGB3

Variant: NM_000212.2:c.863T>C (p.Leu288Pro) and NM_000212.2:c.847_848del

LegacyVariant: (p.Leu262Pro)

ClinVar: N/A

CAiD: CA400024958 and CA8623068

gnomAD: for c.847_848del https://gnomad.broadinstitute.org/variant/17-45364504-AGC-A