Case1: Male, 6 years old

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: HP:0004406, HP:0000967

(Recurring nosebleed, petechia)

CaseHPOFreeText: Diffused peliosis

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: aIIb and b3 were absent in the platelets of this patient analyzed by flow cytometry.

PlateletAggregation: There was no concentration aggregation action in response to ADP and adrenaline, but patient platelets could aggregate when treated by ristocetin

CasePreviousTesting: Genomic DNA was isolated from cells, and exon 4 of ITGA2B was amplified. PCR products were resolved via agarose gels, purified for sequencing.

Gene: ITGA2B

Variant: NM_000419.3:c.480C>G and NM_000419.3:c.574+5G>C

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA399805892 and CA913203563

gnomAD: MAF in the East Asian population 0.00005507 http://gnomad.broadinstitute.org/variant/17-42463013-G-C

Case#: 4 year old, male

Disease: Glazmann's Thrombasthenia

CasePresentingHPOs: HP:0000967, HP:0000978, HP:0000225, HP:0004406, HP:0006298, HP:0001892

PlateletAgreggation: Defective response to ADP, Adrenaline, Collagen, Arachidonic acid. Normal response to Ristocetin.

GenotypingMethod: Genomic DNA was extracted from peripheral blood leukocytes for mutational analysis of the αIIb and β3 genes by DNA sequencing

Allele1:

CAID: CA399805892

ClinVar: 953024

Variant:NM_000419.5:c.480C>G

Allele2:

CAID:

ClinVar:

Variant: Not a valid allele. ReferencesDatabase::convertToUnsplicedRegion() - intronic position inside exon ?

ExpressionEvidence: Flow Cytometry of platelet integrin: 53.4% B3 expression, 5.2% A2B expression

Case2: Mother S

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Assessment of surface PTL expression of GPIIIa-IIb was performed

PlateletAggregation: N/A

CasePreviousTesting: DNA sequence analysis was performed for PCR products corresponding to exon 4 of GPIIb

Gene: ITGA2B

Variant: NM_000419.3:c.480C>G

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA399805892

gnomAD: MAF in the East Asian population is 0.00005507 https://gnomad.broadinstitute.org/variant/17-42463013-G-C

Case12: Patient CW (can be found in GT database) gender and age are not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: HP:0031364, HP:0000979, HP:0000967, (Ecchymosis, Purpura/petechiae)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: <1% of normal GPIIIa and GPIIb surface expression

PlateletAggregation: N/A

CasePreviousTesting: N/A

Gene: ITGA2B

Variant: NM_000419.3:c.1750C>T (p.Arg584Ter) and NM_000419.3:c.480C>G (p.Ser160_102del)

LegacyVariant: N/A

ClinVar: 2892 (Arg584Ter)

CAiD: CA115834 and CA399805892

gnomAD: MAF in the East Asian population is 0.0002176 for the Arg584Ter variant and MAF in the East Asian population is 0.00005507 for the other variant https://gnomad.broadinstitute.org/variant/17-42463013-G-C

PreviouslyPublished: Reference number 23 in this article