These include variants in genes encoding FANCE, a subunit of the Fanconi Anaemia (FA) nuclear complex; NKX2-1, a transcription factor and negative regulator of the NF-κB signalling pathway [43]; and other recognized oncogenes JAK2, PRDM16, BMPR1A and tumor-suppressor genes KMT2C, FAT4, and LRP1B [34] (Supplementary Tables S3 and S4). The gene discussed is KMT2C; the disease is Friedreich ataxia.