Case#: half a year old, male

Disease: Glazmann's Thrombasthenia

CasePresentingHPOs: HP:0000967, HP:0000978, HP:0002239

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: 996164

CAID: CA400023596

Variant: NM_000212.3:c.724C>T

GnomAD: Highest in European (Non-Finnish) 0.00006483 (1/15426)

Allele 2

ClinVar: Not found

CAID: CA626684825

Variant: NM_000212.3:c.225_226del

GnomAD: East Asian highest at rate of 0.0001087 2/18394

ExpressionEvidence: Flow Cytometry of platelet integrin: .3% B3 expression, .6% A2B expression