← Gene index
NF1
HGNC ↗1 article(s) in the watch · Constitutional genetics
NF1 encodes neurofibromin, a negative regulator of the RAS pathway. Loss of function causes neurofibromatosis type 1.
InheritanceAutosomal dominant
Clinical spectrumCafé-au-lait macules, neurofibromas, optic pathway glioma, MPNST risk
ManagementMultidisciplinary follow-up; selumetinib (MEK inhibitor) for selected plexiform neurofibromas.