Case#: GT3 male, 17 years old

Disease: Glazmann's Thrombasthenia

CasePresentingHPOs: (found in appendix) HP:0001892, HP:0000421, HP:0000225, HP:0000967, HP:0000979, HP:0031364, HP:0006298

ExpressionEvidence: Flow Cytometry of platelet αIIbβ3: 0%CD41, .43% CD61

FamilyInfo: Positive consanguinity

GenotypingMethod: Sanger DNA sequencing to identify causative mutations in each case

ClinVar: 1691476

CAID: CA400030171

Variant: NM_000212.3:c.1641C>G

GnomAD: Not Found

Case#: GT2 male, 7 years old

Disease: Glazmann's Thrombasthenia

CasePresentingHPOs: (found in appendix) HP:0000967, HP:0000979, HP:0031364, HP:0000978, HP:0002239

ExpressionEvidence: Flow Cytometry of platelet αIIbβ3: 0%CD41, 0% CD61

FamilyInfo: Positive consanguinity

GenotypingMethod: Sanger DNA sequencing to identify causative mutations in each case

ClinVar: 1691476

CAID: CA400030171

Variant: NM_000212.3:c.1641C>G

GnomAD: Not Found

Case17: (GT72) Gender, age and ethnicity not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: Inclusion criteria were patients with a history of mucocutaneous bleeding (Figure 1 shows a bar diagram of all the clinical manifestations in the patient cohort in this article)

CaseNotHPOs: N/A

ProteinExpression: Platelet receptor alphaIIbbeta3 protein was analyzed by flow cytometry followed by western blotting

Platelet Aggregation: Inclusion criteria for probands was absent or reduced platelet aggregation with agonists such as ADP, adrenaline, arachidonic acid, and collagen (no mention of ristocetin here-- this article does not tell us the specific aggregation for each proband in the paper)

CasePreviousTesting: For mutation analysis of ITGA2B and ITGB3 genes, DNA extraction from whole blood, PCR, heteroduplex PCR followed by CSGE and DNA sequencing were performed. All 30 exons of ITGA2B and 15 exons of ITGB3, as well as their promoters, were analyzed by CSGE following heteroduplex PCR.

Gene: ITGB3

Variant: NM_000212.2:c.1641C>G (p.Cys547Trp)

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA400030171

gnomAD N/A