Case10: GT29, Fe,a;e, India, age of onset is 3 years old

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: Patients were recruited as they presented consecutively from 1996 to 1998 for evaluation of a mucocutaneous bleeding disorder

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: N/A

PlateletAggregation: All patients examined had defective ADP, epinephrine, and collagen induced aggregation and normal ristocetin induced aggregation

CasePreviousTesting: Mutations were detected by the method of single strand conformation polymorphism (SSCP) analysis, followed by nucleotide sequencing and confirmation by restriction fragment length polymorphism (RFLP) assays. The sequences of the primers employed and the reaction conditions for PCR amplification of the exons, adjacent intronic regions, and 50 and 30 untranslated regions of the aIIb and b3 gene

Gene: ITGA2B

Variant: There is an error in this article, they state the mutation is c.683 but really in CAR we see it is c.682 --> I have changed it: NM_000419.3:c.682C>T (p.Gln228Stop) and NM_000419.3:c.886G>A (p.Gly296Arg)

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA399805421 and CA8603306

gnomAD: MAF in the East Asian population is 0.00005454 https://gnomad.broadinstitute.org/variant/17-42461684-C-T

Supplementary Tables 1 and 2 combined information:

Case32: GT32, Male, 9 years old

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: Not available per supplementary table 1

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

CasePresentingHPOs:HP:0000421

(Epistaxis)

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.886G>A (p.Gly296Arg) and NM_000419.3:c.460_462del (p.Glu154del)

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA8603306 (p.Gly296Arg) and CA8603457 (p.Glu154del)

gnomAD: MAF in East Asian population: 0.00005454 https://gnomad.broadinstitute.org/variant/17-42461684-C-T and MAF in European (non-Finnish) population 0.000008870 https://gnomad.broadinstitute.org/variant/17-42463030-TCTC-T