Case#: Patient ID 1, Male, Korean

Disease: Glazmann's Thrombasthenia

FamilyInfo: Affected sister with similar symptoms.

CasePresentingHPOs: HP:0000421, HP:0000978, HP:0001903, HP:0000967, HP:0006298

Epistaxis, bruising susceptibility, anemia, petechiae, bleeding after dental extraction

PlateletAgreggation: Impaired response to ADP and epi.

GenotypingMethod: Targeted Exome sequencing followed by Whole exome sequencing performed. Sanger Sequencing used to confirm pathogenic variants

Allele 1:

ClinVar: 953041

CAID:CA8623377

Variant: NM_000212.3:c.1913+5G>T

GnomAD: East Asian at rate of 0.0001633 (3/18372)

Allele 2

ClinVar: Not found

CAID:CA400029341

Variant: NM_000212.3:c.1451G>T

GnomAD: Not found

ExpressionEvidence: Decreased CD41 expression by flow cytometry