Additionally, we identified a 3′ UTR variant in KLHL40 in a patient with nemaline myopathy 8 [30] and a missense variant in YARS2 in a patient with a mitochondrial disorder known as MLASA2 [31], both of which Introme helped prioritise as candidate splice-altering variants. The gene discussed is YARS2; the disease is nemaline myopathy.