Characteristics of the 11 index cases with likely pathogenic biallelic RASGRP2 variants. (A) Pedigrees of the index cases (*) with likely pathogenic RASGRP2 variants indicating the genotype of the index cases. The black symbols indicate cases with abnormal bleeding and reduced platelet aggregation responses. The white symbols indicate pedigree members without bleeding symptoms, and the gray symbols indicate pedigree members unavailable for evaluation. +/V, heterozygous; V/V, compound heterozygous or homozygous for the variant allele. (B) Annotation of 11 index cases with HPO terms for bleeding symptoms. (C) Summary light transmission aggregation for all 11 index cases. Data are expressed as the proportion of index cases with any reported defect in aggregation responses to ADP, epinephrine (Epi), collagen (Coll), arachidonic acid (AA), TRAP-6, and ristocetin (Risto). (D) Detailed light transmission aggregation response in cases AII-3 and BII-1 in response to the stated agonist concentrations. Data are presented as the maximum aggregation and initial velocity of the aggregation responses.