Case#: Case 1, 35 yo Female

DiseaseAssertion: Glanzmann thrombasthenia

ParentalGenotype: Not provided

CasePresentingHPOs: (HP:0031364, Ecchymosis) (HP:0034000, Tracheal hemorrhage)

PlateletAggregation: Responded partially to tranexamic acid

CaseHPOFreeText: intrauterine blood clots

CaseNotHPOs:

CaseNotHPOFreeText:

ProteinExpression: Western blot, trace amounts of αIIb and residual expression of β3

CasePreviousTesting: Molecular analysis

PreviouslyPublished: Not provided

Gene: ITGA2B

HGVS: NM_000419.5:c.2095-19T>A

ClinVar: 1691455 https://www.ncbi.nlm.nih.gov/clinvar/variation/1691455/

CAID: CA915940312

gnomAD: Absent

Gene: ITGA2B

HGVS: NM_000419.5:c.2770C>T

ClinVar: 1691475 https://www.ncbi.nlm.nih.gov/clinvar/variation/1691475/

CAID: CA399792054

gnomAD: PopMax = 0.000002616 https://gnomad.broadinstitute.org/variant/17-44375069-G-A?dataset=gnomad_r4

Case#: 48 yo, Male

DiseaseAssertion: GT

FamilyInfo: 2 siblings diagnosed GT, 5 children diagnosed GT. No pedigree.

CasePresentingHPOs: (HP:0040231) Abnormal onset of bleeding; (HP:0004406) Spontaneous, recurrent epistaxis; (HP:0002248) Hematemesis; (HP:0002249) Melena

PlateletAggregation: Prothrombin time: 12, Partial thromboplastin time: 35, Platelet function analyzer-100: >200

CaseHPOFreeText: duodenal angiodysplasia

ProteinExpression: Flow cytometry: CD41 and 61 absent

CasePreviousTesting: Molecular sequencing, Patients’ information was obtained from the medical record system of the Madinah Hereditary Blood Disorders Center, Maternity and Children Hospital, King Fahd Hospital, Al Madinah, Saudi Arabia.

Gene: ITGA2B

HGVS: NM_000419.5(ITGA2B):c.1210+5G>A

ClinVar: 1210188

CAID: CA915940251

gnomAD: 0 https://gnomad.broadinstitute.org/variant/chr17-44383488-C-T?dataset=gnomad_r4

Case#: 11 yo, Female

DiseaseAssertion: GT

FamilyInfo: No family hx. No pedigree.

CasePresentingHPOs: (HP:0002249) Melena; (HP:0000421) Epistaxis; (HP:0000225) Gingival bleeding; (HP:0100769) Synovitis; (HP:0005261) Joint hemorrhage, right ankle; (HP:0001891) Iron deficiency anemia;

PlateletAggregation: Prothrombin time: 11, Partial thromboplastin time: 26, Platelet function analyzer-100: >300

CaseHPOFreeText: stable intestinal angiodysplasia

ProteinExpression: Flow cytometry: CD41 and 61 <50%

CasePreviousTesting: Molecular sequencing, Patients’ information was obtained from the medical record system of the Madinah Hereditary Blood Disorders Center, Maternity and Children Hospital, King Fahd Hospital, Al Madinah, Saudi Arabia.

Gene: ITGB3

HGVS: NM_000212.3:c.2111_2112del

ClinVar:

CAID: CA3062865178

gnomAD: