Case3: Patient 3, diagnosed at 21 years, gender and ethnicity not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: 2 affected aunts died of bleeding complications before 10 years of age

ParentalGenotype: N/A

CasePresentingHPOs: HP:0000225

(Gingival bleeding)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Immunoblot analysis of platelet lysates showed no detectable pro-αIIb or mature αIIb in any of the patient samples. Trace amounts of Beta3 were detected in samples from this patient

PlateletAggregation: Absent in vitro platelet aggregation in response to ADP, epinephrine, and collagen but a normal initial phase response to ristocetin

CasePreviousTesting: Polymerase chain reaction (PCR), single strand conformation polymorphism (SSCP) analysis, and DNA sequencing was performed for ITGA2B

Gene: ITGA2B

Variant: NM_000419.3:c.1162G>A (p.Gly388Ser)

LegacyVariant: p.Gly357Ser

ClinVar: N/A

CAiD: CA8603212

gnomAD: N/A (This variant is not in gnomAD but is in ExAC)

Case4: Male, 22 years old, Tamil Nadu India

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: HP:0006298, HP:0000421, HP:0002239, HP:0000225

(Prolonged bleeding after tooth extraction, epistaxis, GI bleeding, gingival bleeding)

CaseHPOFreeText: Bleeding during tooth extraction

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: See Table 1 for values

PlateletAggregation: See Table 1 for values

CasePreviousTesting: PCR amplification of ITAG2B and ITGB3

Gene: ITGA2B

Variant: NM_000419.3:c.1162G>A (p.Gly388Ser)

LegacyVariant: (p.Gly357Ser)

ClinVar: N/A

CAiD: CA8603212

gnomAD: N/A