Table 1.

Structural variants found in the OxClinWGS cohort

Seven SVs were identified, three of which implicate two novel disease genes (DHRS3, FOXD3). One SV led to a change in diagnosis from Aicardi to early onset encephalopathy (DEE1) and one is in a known gene (WWOX). Two SVs represent complex rearrangements. All seven of the SVs are pathogenic or have evidence of causality and the cases are therefore considered solved. Details of prior testing and whether variants could have been detected by standard of care testing (arrays, panels or exomes) are included

Abbreviations: SV structural variant, AR autosomal recessive, AD autosomal dominant, CH compound heterozygous, XD X-linked dominant, XR X-linked recessive, DNM de novo mutation, UTR untranslated region, WES whole exome sequence, FISH fluorescent in situ hybridisation, CGH comparative genomic hybridisation, TAD topologically associated domain, LoF loss of function, DEE1 developmental and epileptic encephalopathy type 1