Case1: Gender or age not specified, Thai ethnicity

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: Father: p.Arg584Ter/WT and Mother: p.Leu973Alafs*63/WT (See Table 2)

Note: No parental consanguinity

CasePresentingHPOs: N/A

CaseHPOFreeText: The article does not mention specific bleeding phenotypes for each of the 4 probands in the article, rather, there is a general statement that says: "The common presentations included recurrent epistaxis, bleeding in oral cavity, and easy-bruising spontaneously or after trauma"

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinEpression: General statement from the article that states that flow cytometry to assess the surface GPIIb/IIIa complex showed reduced expression for all probands.

PlateletAggregation: The platelet aggregation test was typically defective with all physiological agonists except ristocetin, for all patients.

CasePreviousTesting: Whole exome sequencing was performed on the 30 exons of ITGA2B and 15 exons in ITGB3. PCR and direct sequencing were then performed in the DNA samples of the patients and their available parents to verify the presence of the identified mutations.

Gene: ITGA2B

Variant: NM_000419.3:c.1750C>T (p.Arg584Ter) and NM_000419.3:c.2915dup (p.Leu973Alafs*63)

LegacyVariant: N/A

ClinVar: 2892 (p.Arg584Ter)

CAiD: CA115834 (p.Arg584Ter) and CA8602531 (p.Leu973Alafs*63)

gnomAD: MAF for (p.Arg584Ter) in the East Asian population 0.0002176 http://gnomad.broadinstitute.org/variant/17-42457372-G-A and MAF for (p.Leu973Alafs*63) in the East Asian population 0.0001088 http://gnomad.broadinstitute.org/variant/17-42452054-C-CG

Case#: Patient 8

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: Not provided

ParentalGenotype: Not provided

CasePresentingHPOs: (HP:0000421, Epistaxis)

PlateletAggregation: All patients had abnormal platelet aggregation studies prompting analysis of platelet glycoprotein expression by flow cytometry.

ProteinExpression: Flow cytometry, 11 of 12 patients with GT had reduced antibody binding to GPIIb/IIIa

CasePreviousTesting: Not provided

PreviouslyPublished: Not provided

Gene: ITGA2B

Variant: c.1750C>T, p. (R584X)

HGVS: NM_000419.5:c.1750C>T

ClinVar: 2892 https://www.ncbi.nlm.nih.gov/clinvar/variation/2892/

CAID: CA115834

gnomAD: PopMax = 0.00008834 https://gnomad.broadinstitute.org/variant/17-44380004-G-A?dataset=gnomad_r4

Variant: c.2671C>T, p. (Q891X)

HGVS: NM_000419.5:c.2671C>T

ClinVar: 953054 https://www.ncbi.nlm.nih.gov/clinvar/variation/953054/

CAID: CA8602626

gnomAD: PopMax = 0.000007390 https://gnomad.broadinstitute.org/variant/17-44375647-G-A?dataset=gnomad_r4

Case#: 6 year old, male

Disease: Glazmann's Thrombasthenia

CasePresentingHPOs: HP:0000967, HP:0000978, HP:0004406, HP:0000225, HP:0006298, HP:0001892, HP:0002239

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

ClinVar: 2892

CAID: CA115834

Variant: NM_000419.5:c.1750C>T

GnomAD: East Asian Population 0.0002176 (4/18386)

ExpressionEvidence: Flow Cytometry of platelet integrin: .24% B3 expression, .18% A2B expression

Case#: 7 year old, female

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

Allele 1:

ClinVar: 2892

CAID: CA115834

Variant: NM_000419.5:c.1750C>T

GnomAD: East Asian Population 0.0002176 (4/18386)

Allele 2:

ClinVar: 225393

CAID: CA290947544

Variant: NM_000419.5:c.2333A>C

GnomAD: East Asian at a rate of 0.0001087 (2/18394)

ExpressionEvidence:Flow Cytometry of platelet integrin: 94.9% B3 expression, 5.66% A2B expression

Case#: 6 year old, male

Disease: Glazmann's Thrombasthenia

CasePresentingHPOs: HP:0000967, HP:0000978, HP:0004406, HP:0000225, HP:0006298, HP:0001892, HP:0002239

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

Allele 1:

ClinVar: 2892

CAID: CA115834

Variant: NM_000419.5:c.1750C>T

GnomAD: East Asian Population 0.0002176 (4/18386)

Allele 2:

ClinVar: 953046

CAID: CA399802348

Variant: NM_000419.5:c.1651C>T

GnomAD: Highest in East Asian population at a rate of 0.00005045 (1/19820)

ExpressionEvidence:Flow Cytometry of platelet integrin: 99.2% B3 expression, 3% A2B expression

Case#: Patient ID 8, Female, Korean

Disease: Glazmann's Thrombasthenia

CasePresentingHPOs: HP:0000967, HP:0000978, HP:0003010

Bruising susceptibility, Petechiae, Prolonged bleeding time

PlateletAgreggation: Impaired response to ADP and Epi.

GenotypingMethod: Targeted Exome sequencing followed by Whole exome sequencing performed. Sanger Sequencing used to confirm pathogenic variants

Allele 1:

ClinVar:Not Found

CAID: CA399804316

Variant: NM_000419.5:c.1184G>T

GnomAD: Not Found

Allele 2

ClinVar: 2892

CAID:CA115834

Variant: NM_000419.5:c.1750C>T

GnomAD: East Asian population at rate of 0.0002176 (4/18386)

ExpressionEvidence: Decreased CD41 expression by flow cytometry

Supplementary Tables 1 and 2 combined information:

Case5: GT5, Female, 25 years old; however, now deceased

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: Not available per supplementary table 1

ParentalGenotype: Parents are consanguineous, no other genotype information available

CasePresentingHPOs: HP:0000132, HP:0000421, HP:0002239, HP:0002170

(Menorrhagia, epistaxis, gastrointestinal bleeding, intracranial hemorrhage)

CaseHPOFreeText: Post traumatic hemorrhage

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Showed <5% of αIIbβ3 expression measured by flow cytometry

PlateletAggregation: Platelet aggregation showed no response to ADP and collagen but normal response to ristocetin

CasePreviousTesting: All exons from ITGA2B and ITGB3 genes were amplified by PCR using intronic primers. DNA sequencing was determined by Sanger sequencing.

Gene: ITGA2B

Variant: NM_000419.3:c.1750C>T (p.Arg584Ter) and NM_000419.3:c.2159T>C (p.Leu720Pro)

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA115834 (p.Arg584Ter) and CA399798955 (p.Leu720Pro)

gnomAD: N/A

Supplementary Tables 1 and 2 combined information:

Case2: GT2, Male, 13 years old

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: Not available per supplementary table 1

ParentalGenotype: Parents are not consanguineous, no other genotype information available

CasePresentingHPOs: HP:0000978, HP:0000979, HP:0031364, HP:0000421

(Bruising, purpura, ecchymosis, epistaxis)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Showed <5% of αIIbβ3 expression measured by flow cytometry

PlateletAggregation: Platelet aggregation showed no response to ADP and collagen but normal response to ristocetin

CasePreviousTesting: All exons from ITGA2B and ITGB3 genes were amplified by PCR using intronic primers. DNA sequencing was determined by Sanger sequencing.

Gene: ITGA2B

Variant: NM_000419.3: c.1750C>T (p.Arg584Ter)

LegacyVariant: N/A

ClinVar: 2892

CAiD: CA115834

gnomAD: MAF in East Asian population: 0.0002176 https://gnomad.broadinstitute.org/variant/17-42457372-G-A

Supplementary Tables 1 and 2 combined information:

Case29: GT29, Female, 16 years old

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: Not available per supplementary table 1

ParentalGenotype: Parents are not consanguineous, no other genotype information available

CasePresentingHPOs: HP:0000132, HP:0000978, HP:0000979, HP:0031364, HP:0000225

(Menorrhagia, bruising, purpura, ecchymosis, gingival bleeding)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Showed 10-20% of αIIbβ3 expression measured by flow cytometry

PlateletAggregation: Platelet aggregation showed no response to ADP and collagen but normal response to ristocetin

CasePreviousTesting: All exons from ITGA2B and ITGB3 genes were amplified by PCR using intronic primers. DNA sequencing was determined by Sanger sequencing.

Gene: ITGA2B

Variant: NM_000419.3:c.1750C>T (p.Arg584Ter)

LegacyVariant: N/A

ClinVar: 2892

CAiD: CA115834

gnomAD: MAF in the East Asian population: 0.0002176 https://gnomad.broadinstitute.org/variant/17-42457372-G-A

Supplementary Tables 1 and 2 combined information:

Case22: GT22, Female, 16 years old

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: Not available per supplementary table 1

ParentalGenotype: Parents are not consanguineous, no other genotype information available

CasePresentingHPOs: HP:0000132 (Menorrhagia)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Showed <5% of αIIbβ3 expression measured by flow cytometry

PlateletAggregation: Platelet aggregation showed no response to ADP and collagen but normal response to ristocetin

CasePreviousTesting: All exons from ITGA2B and ITGB3 genes were amplified by PCR using intronic primers. DNA sequencing was determined by Sanger sequencing.

Gene: ITGA2B

Variant: NM_000419.3:c.1750C>T (p.Arg584Ter)

LegacyVariant: N/A

ClinVar: 2892

CAiD: CA115834

gnomAD: MAF in the East Asian population: 0.0002176 https://gnomad.broadinstitute.org/variant/17-42457372-G-A

Supplementary Tables 1 and 2 combined information:

Case40: GT40, Male, 5 years old

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: Not available per supplementary table 1

ParentalGenotype: Parents are not consanguineous, no other genotype information available

CasePresentingHPOs: HP:0000978, HP:0000979, HP:0031364, HP:0000421

(Bruising, purpura, ecchymosis, epistaxis)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Showed <5% of αIIbβ3 expression measured by flow cytometry

PlateletAggregation: Platelet aggregation showed no response to ADP and collagen but normal response to ristocetin

CasePreviousTesting: All exons from ITGA2B and ITGB3 genes were amplified by PCR using intronic primers. DNA sequencing was determined by Sanger sequencing.

Gene: ITGA2B

Variant: NM_000419.3:c.1750C>T (p.Arg584Ter) and NM_000419.3:c.962G>T (p.Gly321Val)

LegacyVariant: N/A

ClinVar: 2892 (p.Arg584Ter)

CAiD: CA115834 (p.Arg584Ter) and CA399804765 (p.Gly321Val)

gnomAD: MAF for p.Arg584Ter in East Asian population 0.0002176 https://gnomad.broadinstitute.org/variant/17-42457372-G-A

Supplementary Tables 1 and 2 combined information:

Case3: GT3, Female, 12 years old

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: Not available per supplementary table 1

ParentalGenotype: Parents are not consanguineous, no other genotype information available

CasePresentingHPOs: HP:0000978, HP:0000979, HP:0031364, HP:0000421, HP:0000225

(Bruising, purpura, ecchymosis, epistaxis, gingival bleeding)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Showed <5% of αIIbβ3 expression measured by flow cytometry

PlateletAggregation: Platelet aggregation showed no response to ADP and collagen but normal response to ristocetin

CasePreviousTesting: All exons from ITGA2B and ITGB3 genes were amplified by PCR using intronic primers. DNA sequencing was determined by Sanger sequencing.

Gene: ITGA2B

Variant: NM_000419.3: c.1750C>T (p.Arg584Ter)

LegacyVariant: N/A

ClinVar: 2892

CAiD: CA115834

gnomAD: MAF in East Asian population: 0.0002176 https://gnomad.broadinstitute.org/variant/17-42457372-G-A

Supplementary Table S1 & S2 Proband and Variant Information:

Case12: GT13, Female, 14, French

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: HP:0000967 (Petechiae)

CaseHPOFreeText: Moderate bleeding syndrome

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Flow cytometry showed <5% variant expression of αIIbβ3 (See Supplementary Table 1)

PlateletAggregation: Absent platelet aggregation (See Supplementary Table 1)

CasePreviousTesting: Sanger sequencing of ITGA2B and ITGB3

Gene: ITGA2B

Variant: NM_000419.3:c.682C>T (p.Gln228Ter) and NM_000419.3:c.1750C>T (p.Arg584Ter)

LegacyVariant: N/A

ClinVar: 2892

CAiD: CA399805421 and CA115834

gnomAD: MAF in the East Asian population is 0.0002176 http://gnomad.broadinstitute.org/variant/17-42457372-G-A

Case8: Female, age not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: Mild bleeding

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: N/A

PlateletAggregation: Minimal information, not specific enough

CasePreviousTesting: Sanger sequencing identified disease-causing variants in 18 out of 20 patients (Probands 6 and 14 excluded) with istoantibodies to αIIbβ3. The mutations were evenly distributed between ITGB3 and ITGA2B.

Gene: ITGB3 and ITGA2B

Variant: NM_000419.3:c.682C>T (p.Gln228Ter) and NM_000419.3:c.1750C>T (p.Arg584Ter)

LegacyVariant: N/A

ClinVar: 2892 (p.Arg584Ter)

CAiD: CA115834 (p.Arg584Ter) and CA399805421

gnomAD: MAF in East Asian population 0.0002176 (p.Arg584Ter) http://gnomad.broadinstitute.org/variant/17-42457372-G-A

Case8: (GT-8) Female, 10 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.682C>T (p.Gln228Ter) and NM_000419.3:c.1750C>T (p.Arg584Ter)

LegacyVariant: (p.Gln197Ter) and (p.Arg558Ter) (The paper gives legacy and current nomenclature)

ClinVar: 2892 (p.Arg584Ter)

CAiD: CA399805421 (p.Gln228Ter) CA115834 (p.Arg584Ter)

gnomAD MAF in the East Asian population is 0.0002176 https://gnomad.broadinstitute.org/variant/17-42457372-G-A

Case15: Family L (patient found in the GT database as well) gender and age are not specified here

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: HP:0000421, HP:0000225(Epistaxis, gingival bleeding)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: N/A

PlateletAggregation: N/A

CasePreviousTesting: N/A

Gene: ITGA2B

Variant: NM_000419.3:c.1750C>T (p.Arg584Ter)

LegacyVariant: N/A

ClinVar: 2892

CAiD: CA115834

gnomAD: MAF in the East Asian population is 0.0002176 https://gnomad.broadinstitute.org/variant/17-42457372-G-A

PreviouslyPublished: Reference numbers 26,27 in this article

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

Case17: Patient MO (patient found in the GT database as well) gender and age are not specified here

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: HP:0000978, HP:0000132 (Bruising, menorrhagia)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: N/A

PlateletAggregation: N/A

CasePreviousTesting: N/A

Gene: ITGA2B

Variant: NM_000419.3:c.1750C>T (p.Arg584Ter)

LegacyVariant: N/A

ClinVar: 2892

CAiD: CA115834

gnomAD: MAF in the East Asian population is 0.0002176 https://gnomad.broadinstitute.org/variant/17-42457372-G-A

PreviouslyPublished: Reference numbers 29 and 30 in this article

Case1: Female, age and ethnicity is previously described in Ruan et al, 1993, but access not available to this article

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: The propositus' twin brother was also affected

ParentalGenotype: Article mentions, "Thus the two affected members are double heterozygote having inherited two different abnormal GPIIb alleles, one from the father and the other from the mother"

CasePresentingHPOs: N/A

CaseHPOFreeText: Bleeding time > 15 minutes

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

ProteinExpression: Absent or reduced platelet GPIIb and GPIIIa assessed by Western blotting

PlateletAggregation: Absent platelet aggregation in response to ADP, epinephrine, and collagen and normal aggregation in response to ristocetin

CasePreviousTesting: PCR was used to amplify the defective segment of the GPIIb gene

Gene: ITGA2B

Variant: NM_000419.3:c.1750C>T (p.Arg584Ter)

LegacyVariant: c.9644C>T

ClinVar: 2892

CAiD: CA115834

gnomAD: MAF in the East Asian population is 0.0002176 https://gnomad.broadinstitute.org/variant/17-42457372-G-A

Case1: Female, 3 years old, Chinese

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A (No information about the family was available since the child was adopted)

ParentalGenotype: N/A

CasePresentingHPOs: HP:0000421 (Epistaxis)

CaseHPOFreeText: Mucocutaneous hemorrhages, prolonged bleeding time

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

ProteinExpression: Protein expression was estimated by flow cytometry and western blot analysis. The analysis revealed less than 10% of surface expression of alphaIIbbeta3 relative to control platelets. (See Fig 2)

PlateletAggregation: Platelet aggregation in response to ADP, collagen, adrenaline, and arachidonic acid was less than 5% that of control platelets, and no clot retraction was observed. Ristocetin-induced platelet agglutination and plasma fibrinogen content were within the normal range.

CasePreviousTesting: Sequencing for mutations was carried out by direct sequencing of PCR overlapping fragments of reversed transcribed αIIb and β3 mRNA.

Gene: ITGA2B

Variant: NM_000419.3:c.2829C>T (p.Pro943Leu), NM_000419.3:c.2621T>G (p.Ile874Ser), NM_000419.3:c.1750C>T (p.Arg584Ter)

LegacyVariant: (p.Ile843Ser) and (p.Arg553Ter) and (p.Pro912Leu)

ClinVar: 2891, 2892

CAiD: CA500263536, CA115831, CA115834

gnomAD: MAF in the European (Finnish) population is 0.4395 https://gnomad.broadinstitute.org/variant/17-42453065-A-C and MAF in the East Asian population is 0.0002176 https://gnomad.broadinstitute.org/variant/17-42457372-G-A

Case1: Male, 8 years old, ethnicity not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: Sister had no bleeding tendency (all the information given in the previously published article cited in this annotation)

ParentalGenotype: Parental mutations shown in Fig. 3 A and B

CasePresentingHPOs: HP:0000421

(Epistaxis)

CaseHPOFreeText: Tonsilar bleeding

CaseNotHPOs: HP:0000979

(Purpura)

CaseNotHPOFreeText: N/A

ProteinExpression: Western blotting indicated that the proband's platelets contained no normal GPIIb, but showed a trace amount of an abnormal GPIIb (-6% with respect to the GPIIb level in a normal individual).

PlateletAggregation: Decreased aggregation in response to ADP, collagen and epinephrine but a normal ristocetin-induced aggregation (this information was obtained from the previously published article cited at in this annotation)

CasePreviousTesting: Genomic DNA fragments containing exons of the GPIIb gene were amplified by PCR

Gene: ITGA2B

Variant: NM_000419.3:c.1750C>T (p.Arg584Ter) and NM_000419.3:c.2602-3C>G

LegacyVariant: N/A

ClinVar: 2892 and 2893

CAiD: CA115834 and CA10575472

gnomAD: MAF in the East Asian population is 0.0002176 https://gnomad.broadinstitute.org/variant/17-42457372-G-A and MAF in the East Asian population is 0.00006523 https://gnomad.broadinstitute.org/variant/17-42453087-G-C

PreviouslyPublished: PMID: 1891767

Case1: Female, 3 year old, ethnicity not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: An analysis of family members indicated that the Gln517Stop and Arg553Stop mutations were located on different alleles and inherited from the patient’s mother and father, respectively

CasePresentingHPOs: HP:0004406, HP:0002248, HP:0000978, HP:0000225

(Recurrent epistaxis, hematemesis, easy bruising, gingival bleeding)

CaseHPOFreeText: Petechial hemorrhages

CaseNotHPOs: HP:0001945, HP:0002014, HP:0005261

Fever, diarreah, hemarthrosis

CaseNotHPOsFreeText: N/A

ProteinExpression: A flow cytometry evaluation revealed marked reduction in glycoprotein IIb/IIIa (See Table 1 for Patient's Lab results)

PlateletAggregation: Patients platelets did not aggregate in response to ADP, epinephrine, arachidonic acid, or collagen but platelets had normal ristocetin induced aggregation

CasePreviousTesting: Molecular genetic analysis of ITGA2B was performed which revealed mutations

Gene: ITGA2B

Variant: NM_000419.3:c.1642C>T (p.Gln548Ter) and NM_000419.3:c.1750C>T (Arg584Ter)

LegacyVariant: Gln517Ter and Arg553Ter

ClinVar: 2892

CAiD: CA399802364 and CA115834

gnomAD: MAF in the East Asian population is 0.0002176

Case2: Female, 41 years old, ethnicity not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: "This mutation was confirmed in the proband and parents."

CasePresentingHPOs: HP:0000225 (Gingival bleeding)

CaseHPOFreeText: Site of bleeding: Skin

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

ProteinExpression: See Table 1 (information provided)

PlateletAggregation: See Table 1 (information provided)

CasePreviousTesting: Screened mutations in ITGA2B and ITGB3 by multiplex polymerase chain reaction (PCR) amplification (MPCR) and conformation-sensitive gel electrophoresis

Gene: ITGA2B

Variant: NM_000419.3:c.1750C>T (p.Arg584Ter)

LegacyVariant: N/A

ClinVar: 2892

CAiD: CA115834

gnomAD: MAF in the East Asian population is 0.0002176 https://gnomad.broadinstitute.org/variant/17-42457372-G-A