Case1: The proband of interest is designated as VGTΔ724 in this article

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: HP:0000978, HP:0000967

(Bruising, petechiae)

CaseHPOFreeText: Mucosal bleeding

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: N/A

PlateletAggregation: Platelets fail to aggregate in response to physiologic agonists or spread on fibrinogen

CasePreviousTesting: N/A

Gene: ITGB3

Variant: NM_000212.2:c.2248C>T (p.Arg750Ter) and NM_000212.2:c.1791del (p.Asn597Lysfs*72)

LegacyVariant: (p.Arg724Ter)

ClinVar: 13564 (p.Arg750Ter)

CAiD: CA123246 (p.Arg750Ter) and CA8623358 (Asn597Lysfs*72)

gnomAD: MAF in the African population is 0.0006008 https://gnomad.broadinstitute.org/variant/17-45384950-C-T (p.Arg750Ter)

Case1: (Patient RM) Male, age and ethnicity not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: Mother: heterozygous for (p.Arg724Ter)

CasePresentingHPOs:

CaseHPOFreeText: HP:0000978 (Easy bruising)

CaseNotHPOs: Recurrent mucosal bleeding

CaseNotHPOFreeText: N/A

ProteinExpression: Flow cytrometric analysis revealed reduced levels of alphaIIbbeta3 on the surface of RM platelets (See Fig 1B)

PlateletAggregation: Ristocetin induced agglutination was normal; however, platelets failed to aggregate in response to all physiological agonists including ADP, collagen, epinephrine, thrombin, and arachidonic acid

CasePreviousTesting: Direct DNA sequence analysis of PCR amplified ITGA2B and ITGB3 genes from patient RM's genomic DNA was performed. All exons, including the immediate intron-exon junctions of ITGA2B and ITGB3 were amplified using the PCR primer pairs originating in the intron sequence flanking each exon. The resulting PCR fragments were purified and subjected to direct cycle sequencing

Gene: ITGB3

Variant: NM_000212.2:c.2248C>T (p.Arg750Ter) and NM_000212.2:c.1791del (p.Asn597Lysfs*72)

LegacyVariant: (p.Arg724Ter)

ClinVar: 13564

CAiD: CA123246 and CA8623358

gnomAD: MAF in the African population is 0.0006008 https://gnomad.broadinstitute.org/variant/17-45384950-C-T

PreviouslyPublished: PMID: 15701721

Case1: Male, two years old, ethnicity not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

ProteinExpression: The expression levels of this mutant αIIbβ3 complex on the platelet surface were normal

PlateletAggregation: N/A (minimal information for the proband)

CasePreviousTesting: N/A

Gene: ITGB3

Variant: NM_000212.2:c.2248C>T (p.Arg750Ter)

LegacyVariant: (p.Arg724Ter)

ClinVar: 13564

CAiD: CA123246

gnomAD: MAF in the African population is 0.0006008 https://gnomad.broadinstitute.org/variant/17-45384950-C-T

Case1: Male, 9 years old,

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: One brother, with no signs of bleeding diathesis

ParentalGenotype: Father is heterozygous for the c.2268C>T mutation and the mother is compound heterozygous with the c.2268C>T variant and c.2330C>T variant

CasePresentingHPOs: HP:0000421 Epistaxis

CaseHPOFreeText: Submucosal bleeding, hematomas, excessive achilles tendon bleeding

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: The patient's αIIbβ3 receptor count was estimated approximately 50% of that measured in a healthy age-matched control by quantitative flow cytometry

PlateletAggregation: Complete absense of platelet aggregation in response to ADP, arachidonic acid, epinephrine, collagen

CasePreviousTesting: Direct sequencing of the patients αIIb and β3 genes was perforemed

Gene: ITGB3

Variant: NM_000212.2:c.2248C>T (p.Arg750Ter)

LegacyVariant: (p.Arg724Ter)

ClinVar: 13564

CAiD: CA123246 (p.Arg750Ter)

gnomAD: N/A