Case9: GT-9, Caucasian, gender or age not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: Mother: c.1186G>A heterozygous and Father: c.3060_2T>C heterozygous

CasePresentingHPOs: N/A

CaseHPOFreeText: Bleeding symptoms are severe (See Table 1) Abstract mentions patients' bleeding signs include epistaxis, mucocutaneous bleeding, haematomas, petechiae, GI bleeding and menorrhagia; however, not specified per proband.

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Flow cytometry was performed and expression is stated as pathogenic in Table 1

PlateletAggregation: Platelet aggregation was performed and is stated as pathogenic in Table 1; however, no specific agonists mentioned

CasePreviousTesting: All exons of ITGA2B and ITGB3 genes as well as surrounding intron regions were amplified by PCR using intronic primers as pre-viously described (12). The purified DNA fragments were then di-rectly sequenced.

Gene: ITGA2B

Variant: NM_000419.3:c.1186G>A and NM_000419.3:c.3060+2T>C

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA399804315 and CA290944108

gnomAD: MAF in the South Asian population is 0.00006622 http://gnomad.broadinstitute.org/variant/17-42460885-C-T and MAF in the European non-Finnish population is 0.00003876 http://gnomad.broadinstitute.org/variant/17-42451720-A-G

Case#: Patient ID 4, Female 11 years old. North Indian

Disease: Glazmann's Thrombasthenia

CasePresentingHPOs: HP:0031364, HP:0003540, HP:0000421, HP:0000225

Ecchymosis, Impaired platelet aggregation, Epistaxis, Gingival bleeding

PlateletAgreggation: LTA with ADP, Epi, Coll, AA, and Ristocetin: Impaired with all & aggregation–disaggregation pattern with Ristocetin

GenotypingMethod: Next generation sequencing. Sanger sequencing used to confirm pathogenic variants

FamilyInfo:Father heterozygous c.1186G > A variant; d Mother carrier for c.3092delT variant

Allele 1:

ClinVar: 627218

CAID: CA399804315

Variant:NM_000419.5:c.1186G>A

GnomAD:South Asian at rate of 0.00006622 (2/30202)

Allele 2:

ClinVar:1691488

CAID: CA915940323

Variant: NM_000419.5:c.3092del

GnomAD: NA

ExpressionEvidence: Flow Cytometry for platelet expression of GPIIb/IIIa in CD41a 0% and CD61 15%.