Case#: Case 2, 20 yo Female

DiseaseAssertion: Glanzman thrombasthenia

ParentalGenotype: Not provided

CasePresentingHPOs: (HP:0000978, Bruising susceptibility) (HP:0000421, Epistaxis)

PlateletAggregation: Strong reduction of platelet aggregation with all agonists, except ristocetin. Normal platelet count.

CaseHPOFreeText:

CaseNotHPOs:

CaseNotHPOFreeText:

ProteinExpression: Flow cytometry, platelets with 18% to 24% residual αIIbβ3

CasePreviousTesting: Not provided

PreviouslyPublished: Not provided

Gene: ITGB3

HGVS: NM_000212.3:c.187C>T

ClinVar: 631774 https://www.ncbi.nlm.nih.gov/clinvar/variation/631774/

CAID: CA8622892

gnomAD: PopMax = 0.00002555 https://gnomad.broadinstitute.org/variant/17-47283375-C-T?dataset=gnomad_r4

Gene: ITGB3

HGVS: NM_000212.3:c.505C>T

ClinVar: 953061 https://www.ncbi.nlm.nih.gov/clinvar/variation/953061/

CAID: CA291224658

gnomAD: PopMax = 2.800e-7 https://gnomad.broadinstitute.org/variant/17-47284586-C-T?dataset=gnomad_r4