Case#: 15 year old, female

Disease: Glazmann's Thrombasthenia

CasePresentingHPOs: HP:0000967, HP:0000978, HP:0000225, 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: 953046

CAID: CA399802348

Variant: NM_000419.5:c.1651C>T

GnomAD: Highest in East Asian population at a rate of 0.00005045 (1/19820)

Allele 2:

ClinVar: 225393

CAID: CA290947544

Variant: NM_000419.5:c.2333A>C

GnomAD: East Asian: 0.0001087 (2/18394)

ExpressionEvidence:Flow Cytometry of platelet integrin: 7.7% B3 expression, .82% A2B expression

Case#: 13, male

Disease: Glazmann's Thrombasthenia

CasePresentingHPOs: HP:0000967, HP:0000978, HP:0004406, HP:0000225, 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: 1330339

CAID: CA400024922

Variant: NM_000212.3:c.856G>A

GnomAD: Not Found

Allele 2

ClinVar: 1330314

CAID: CA400028591

Variant: NM_000212.3:c.1288C>T

GnomAD: Highest in European non-Finnish population 0.000008801 (1/113622)

ExpressionEvidence: Flow Cytometry of platelet integrin: 8.3% B3 expression, 88.8% A2B expression

Case#: 19, female

Disease: Glazmann's Thrombasthenia

CasePresentingHPOs: HP:0000967, HP:0000978, HP:0000225, 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: 1330339

CAID: CA400024922

Variant: NM_000212.3:c.856G>A

GnomAD: Not Found

Allele 2

ClinVar: 1330314

CAID: CA400028591

Variant: NM_000212.3:c.1288C>T

GnomAD: Highest in European non-Finnish population 0.000008801 (1/113622)

ExpressionEvidence: Flow Cytometry of platelet integrin: 10% B3 expression, 86.6% A2B expression

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