However, genetic diagnoses of two families (76 and 121) were missed at the time of initial analysis in 2021 because (i) hereditary ataxia panel had not been updated to include NKX2_1; (ii) the splice variant POLR3A c.1909 + 22G > A was filtered out by the bioinformatic pipeline as a synonymous variant. The gene discussed is POLR3A; the disease is Ataxia.