Case#: Basani_1996_LeM, female, Caucasian, >1 y.o.

DiseaseAssertion: GT

FamilyInfo: nonconsanguineous parents

ParentalGenotype: one obligatory carrier

CasePresentingHPOs: HP:0000967 Petechiae, HP:0000979 Purpura,

PlateletAggregation: absence of platelet aggregation in response to adenosine diphosphate (ADP), epinephrine, and collagen, but a normal response to ristocetin.

CaseHPOFreeText: Platelet Count (1 day old): 181,000/mm^3

CaseNotHPOs:

CaseNotHPOFreeText:

ProteinExpression: Flow cytometry: platelets expressed <5% of the normal amount of αIIbβ3 when stained with the β3-specific MoAb SSA6,24 the heterodimer-dependent MoAb A2A923,24 or the activation-dependent MoAb PAC1.25 On the other hand, LeM and control platelets bound comparable amounts of the anti-GPIb MoAb AP1, confirming that the defect in the patient's platelets was confined to αIIbβ3

CasePreviousTesting:

Method: PCR using VENT polymerase confirmed with SSCPA

PreviouslyPublished:

Gene: ITGA2B

Variant: exon 13 sequence containing the 6 bp deletion 5’-GTGACA-3’ (deletion of Val425-Asp426) (heterozygous)

HGVS: NM_000419.5:c.1366_1371del (p.Val456_Asp457del)

ClinVar: 2898

CAID: CA8603160

gnomAD: 0.000008791 European (non-Finnish)

Case2: Patient LeM

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs:

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Platelets lack surface αIIbβ3 expression

PlateletAggregation: N/A

CasePreviousTesting: N/A

Gene: ITGA2B

Variant: NM_000419.3:c.1366_1371del V(425)D(426)del and other other variant is stated as "Unknown" in the GT database. See GT database if questions arise, this is where I found the variants

LegacyVariant: N/A

ClinVar: 2898

CAiD: CA8603160

gnomAD: MAF in the European (non-Finnish) population is 0.000008791 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000419.3%3Ac.1366_1371del

Case10: Patient LeM (found in the GT database) gender and age are not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: HP:0000979, HP:0000967 (Purpura/petechiae)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: <5% of normal expression

PlateletAggregation: N/A

CasePreviousTesting: N/A

Gene: ITGA2B

Variant: NM_000419.3:c.1366_1371del

LegacyVariant: N/A

ClinVar: 2898

CAiD: CA8603160

gnomAD: MAF in the European (non-Finnish) population is 0.000008791 https://gnomad.broadinstitute.org/variant/17-42458268-TGTCTAC-T

PreviouslyPublished: Reference number 21 in this article