Case6: Patient FL (found in the GT database) gender and age are not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: HP:0000978, HP:0006298 Bruising and prolonged bleeding after tooth extraction

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: 7-10% GPIIIa and GPIIb surface expression

PlateletAggregation: N/A

CasePreviousTesting: N/A

Gene: ITGA2B

Variant: NM_000419.3:c.1063G>A (p.Glu355Lys)

LegacyVariant: (p.Glu324Lys)

ClinVar: 2899

CAiD: CA115844

gnomAD: MAF in the European (non-Finnish) population is 0.00001978 https://gnomad.broadinstitute.org/variant/17-42461008-C-T

PreviouslyPublished: Reference 17 in this article

Case5: (GT5) Female, 55 years old, French

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: Mucocutaneous bleeding

CaseNotHPOs: N/A

ProteinExpression: <5% surface expression levels of αIIbβ3

Platelet Aggregation: Absent platelet aggregation to all agonists (no mention for which agonists or response to ristocetin)

CasePreviousTesting: All the information we are given is "mutation screening of the ITGA2B and ITGB3 genes" the method for sequencing etc. was not stated

Gene: ITGA2B

Variant: NM_000419.3:c.1063G>A (p.Glu355Lys)

LegacyVariant: (p.Glu324Lys) (The paper gives legacy and current nomenclature)

ClinVar: 2899

CAiD: CA115844

gnomAD MAF in the European (non-Finnish) population is 0.00001978 https://gnomad.broadinstitute.org/variant/17-42461008-C-T

Case1: Male, 5 years old, Swiss

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: Family pedigree provided in Figure 1- blood samples for the study were obtained from the patient, his parents and 5 other members of his family and none of the other studied family members have experienced abnormal bleeding

ParentalGenotype: Studied and no mutation detected

CasePresentingHPOs: N/A

CaseHPOFreeText: Frequent mucocutaneous bleeding with transfusion being required shortly after birth

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

ProteinExpression: <2% of the normal platelet content of GPIIb-IIIa as determined by flow cytometry

PlateletAggregation: Absence of platelet aggregation in response to ADP, epinephrine, thrombin and collagen; however, normal platelet agglutination with ristocetin

CasePreviousTesting: Using a PCR‐SSCP procedure and direct sequence analysis of PCR‐amplified DNA fragments, we have examined all exons and splice sites of the GPIIb and GPIIIa genes

Gene: ITGA2B

Variant: NM_000419.3:c.1063G>A (p.Glu355Lys) and NM_000419.3:c.1787T>C (p.Ile596Thr)

LegacyVariant: (p.Glu324Lys) and (p.Ile565Thr)

ClinVar: 2899 and 2900, respectively

CAiD: CA115844 and CA115846, respectively

gnomAD: MAF in the European (non-Finnish) population is 0.00001978 https://gnomad.broadinstitute.org/variant/17-42461008-C-T and the MAF in the European (non-Finnish) population is 0.0001325 https://gnomad.broadinstitute.org/variant/17-42457148-A-G

Case2: (Patient 3) Female (adult), age not specified, Algeria

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: Severe bleeding when she was a child

CaseNotHPOs: N/A

ProteinExpression: Absent surface expression of alphaIIbbeta3

Platelet Aggregation: Absent platelet aggregation (this is all they mentioned)

CasePreviousTesting: N/A

Gene: ITGA2B

Variant: NM_000419.3:c.1063G>A (p.Glu355Lys)

LegacyVariant: (p.Glu324Lys)

ClinVar: 2899

CAiD: CA115844

gnomAD MAF in the European (non-Finnish) population is 0.00001978 https://gnomad.broadinstitute.org/variant/17-42461008-C-T

PreviouslyPublished: PMID: 12362239 and 23346430

Case1: Male. 2 years old, Gypsy

DiseaseAssertion: Glanzmann's thrombasthenia

FamilyInfo: See Fig 3 and 4 for family pedigree

ParentalGenotype: Parents are heterozygous for the variant of interest

CasePresentingHPOs: N/A

CaseHPOFreeText: Mucocutaneous hemorrhages and spontaneous bruising

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Protein expression results can be found in Table 1

PlateletAggregation: Platelets aggregated in response to agonists although they reacted positively to ristocetin (See Case History section for this sentence

CasePreviousTesting: Analyzed the amplification of products of all exons of GPII and their intronic flanking regions by single stranded conformational polymorphism analysis. All GPIIIa exons were also analyzed by SSCP and gave results identical to controls

Gene: ITGA2B

Variant: NM_000419.3:c.1063G>A (p.Glu355Lys)

LegacyVariant: N/A

ClinVar: 2899

CAiD: CA115844

gnomAD: MAF in the European (non-Finnish) population is 0.00001978 http://gnomad.broadinstitute.org/variant/17-42461008-C-T

Case1: Female, 56 years old, Algerian

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: HP:0004406, HP:0000132

(Recurrent epistaxis, menorrhagia)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: No platelet αIIbβ3 expression (mentioned briefly in abstract)

PlateletAggregation: The patient shows all the typical signs of GT with no platelet aggregation in response to physiologic agonists and an absence of clot retraction. No mention of ristocetin

CasePreviousTesting: N/A

Gene: ITGA2B

Variant: NM_000419.3:c.1063G>A (p.Glu355Lys)

LegacyVariant: p.Glu324Lys

ClinVar: 2899

CAiD: CA115844

gnomAD: MAF in European (non-Finnish population 0.00001978 http://gnomad.broadinstitute.org/variant/17-42461008-C-T

PreviouslyPublished: Proband 9 in PMID: 2180491

Case2: Female, 67 years old, Japanese

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A per Table 1

ParentalGenotype: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: Prolonged ivy bleeding times, bleeding diathesis since early childhood

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

ProteinExpression: Surface expression of αIIbβ3 was analyzed by flow cytometry which was < 5% of normal

PlateletAggregation: Aggregation in response to ADP, epinephrine and collagen was absent but normal in response to ristocetin

CasePreviousTesting: Nucleotide sequences of the αIIb and β3 coding regions were determined by direct sequencing of RT-PCR products from platelet RNA.

Gene: ITGA2B

Variant: NM_000419.3:c.1063G>A (p.Glu355Lys)

LegacyVariant: (p.Glu324Lys)

ClinVar: 2899

CAiD: CA115844

gnomAD: MAF in the European (non-Finnish) population is 0.00001978 https://gnomad.broadinstitute.org/variant/17-42461008-C-T