Case1: (GTa) Female, 27 years old, Irish Caucasian

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: No family history of bleeding

ParentalGenotype: N/A

CasePresentingHPOs: HP:0000978

(Bruising)

CaseHPOFreeText: Excessive bleeding after a normal delivery

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Reduced expression of GPIIb/IIIa

PlateletAggregation: Platelet aggregation to ADP, thrombin receptor activating peptide, thrombin and U46619 was less than 10% and ristocetin induced agglutination was normal

CasePreviousTesting: Total RNA isolated from the proband's platelets was used as a template for RT PCR. Seven primer pairs were used to amplify overlapping regions of the entire GPIIIa coding sequence using cDNA template

Gene: ITGB3

Variant: NM_000212.2:c.655G>A (p.Val219Met)

LegacyVariant: (p.Val193Met)

ClinVar: N/A

CAiD: CA8623016

gnomAD: MAF in the South Asian population is 0.00003266 http://gnomad.broadinstitute.org/variant/17-45363666-G-A

Case9: Patient ID I, Female, 3 years old, ethnicity not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: Related to Patient's J and K (See Table 1)

ParentalGenotype: N/A (Parents are consangenous)

CasePresentingHPOs: HP:0000967, HP:0000979, HP:0000978, HP:0004406

(Petechiae, purpura, easy bruising, recurrent epistaxis)

CaseHPOFreeText: N/A

CaseNotHPOs: HP:0000225, HP:0002239, HP:0002239, HP:0000790, HP:0005261, HP:0002248

(Gingival bleeding, GI bleeding, intracranial hemorrhage, hematuria, hemarthrosis, hematemesis)

CaseNotHPOsFreeText: Hemorrhage after dnetal, hemorrhage after trauma, ear bleeding, hematoma

ProteinExpression: N/A

PlateletAggregation: Defective response to ADP, adrenaline, collagen, arachidonic acid, and normal response to ristocetin

CasePreviousTesting: Exon PCR was used to amplify coding regions of the ITGA2B and ITGB3 genes. PCR products were purified and Sanger sequenced. Segregation using parental samples was undertaken when available.

Gene: ITGA2B

Variant: NM_000419.3:c.1652G>A

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA8602986

gnomAD: MAF in South Asian population is 0.00006536 http://gnomad.broadinstitute.org/variant/17-42457470-C-T

PreviouslyPublished: PMID: 19172520

Case23: Female, Arab, age not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: Table 1 mentions family history available for the proband, however no specific details about family provided in paper

ParentalGenotype: N/A

CasePresentingHPOs: HP:0000421, HP:0000132)

(Epistaxis, menorrhagia)

CaseHPOFreeText: Haematuria

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: N/A

PlateletAggregation: N/A

CasePreviousTesting: N/A

Gene: ITGA2B

Variant: NM_000419.3:c.409-2_419del

LegacyVariant: N/A

ClinVar: 2889

CAiD: CA10575471

gnomAD: N/A

Case1: Female, 9 years old, Japanese

DiseaseAssertion: Macrothrombocytopenia

FamilyInfo: Information given in Table 1 and Fig 2

ParentalGenotype: Mother: ITGA2B (p.Arg422Ter heterozygous) and Father: ITGA2B (p.Gly991Cys heterozygous) See Table 1 for this information

Sequencing of parental DNA indicated parental mutations. CasePresentingHPOs: HP:0000979, HP:0000421, HP:0000978

(Purpura, epistaxis, bruising)

CaseHPOFreeText: Hemorrhage after dental

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Flow cytometric analysis showed that surface αIIbβ3 expression in platelets (was markedly impaired 3-11%)

PlateletAggregation: N/A

CasePreviousTesting: Sequence analysis of entire coding regions of exons and exon-intron boundaries of ITGA2B and ITGB3 gene of the patient revealed two novel mutations in ITGA2B.

Gene: ITGA2B

Variant: NM_000419.3:c.3064G>T (p.Gly1022Cys) and NM_000419.3:c.1357C>T (p.Arg453Ter)

LegacyVariant: (p.Gly991Cys legacy nomenclature for p.Gly1022Cys) and (p.Arg422Ter legacy nomenclature for p.Arg453Ter)

ClinVar: 631773

CAiD: CA399787943 and CA399803529

gnomAD: N/A

Case1: Male, 61 years old, Iraqi-Jewish origin

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: His sister is the other proband in this article

ParentalGenotype: N/A

CasePresentingHPOs: HP:0000225, HP:0000225, HP:0031364, HP:0002249

(Gingival bleeding, epistaxis, ecchymosis, melena)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

ProteinExpression: Surface expression GPIIb/IIIa was 9% of normal

PlateletAggregation: Platelet aggregation in response to thrombin, collagen, ADP and epinephrine was absent, whereas ristocetin induced aggregation was normal

CasePreviousTesting: DNA fragments containing exons and flanking intronic regions of the GPIIb gene were amplified by PCR

Gene: ITGA2B

Variant: NM_000419.3:c.1947-2A>G

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA399801096

gnomAD: N/A