Case#: 6 year old, male

Disease: Glazmann's Thrombasthenia

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

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: 953019

CAID: CA8602528

Variant: NM_000419.5:c.2929C>T

GnomAD: South Asia at rate of 0.00003266 (1/30616)

Allele 2:

ClinVar: 1330319

CAID:CA923726222

Variant: NM_000419.5:c.2444_2445del

GnomAD:Not found

ExpressionEvidence: Flow Cytometry of platelet integrin: 11.7% B3 expression, .1% A2B expression