Case#: 6 year old female

Disease: Glazmann's Thrombasthenia

CasePresentingHPOs: HP:0000967, HP:0000978, HP:0004406, HP:0000225, HP:0006298, HP:0001892

Petechiae, Bruising susceptibility, Spontaneous, recurrent epistaxis, Gingival bleeding, Prolonged bleeding after dental extraction, Abnormal bleeding

PlateletAgreggation: Defective response to ADP, Adrenaline, Collagen, Arachidonic acid. Normal response to Ristocetin.

GenotypingMethod: Genomic DNA was extracted from peripheral blood leukocytes for mutational analysis of the αIIb and β3 genes by DNA sequencing

Allele 1:

ClinVar:1330340

CAID:CA400021329

Variant: NM_000212.3:c.361+1G>A

GnomAD: Not Found

Allele 2

ClinVar: 1330351

CAID: CA400030376

Variant: NM_000212.3:c.1690G>C

GnomAD: Not Found

ExpressionEvidence:Flow Cytometry of platelet integrin: .61% B3 expression, 50% A2B expression