Fig. 2

Schema of participant recruitment and approach to bioinformatics and curation. A Index case recruitment and enrolment acceptance. B Bioinformatics and variant identification approach. C Curation of prioritised variants. For detailed description of each step, see ‘Methods’. CNV—copy-number variant; indel—small insertions and deletions; LP—likely pathogenic; MDT—multidisciplinary team; P—pathogenic; SNV—single-nucleotide variant; SV—structural variant; VUS—variant of uncertain significance