See Table A. Genes and Databases for chromosome locus and protein.

See Molecular Genetics for information on variants detected in this gene.

Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, or splice site variants. Deletion/duplication analysis is often included in NF1 molecular analysis; If exome sequencing is used, confirm that deletion/duplcaiton analysis is included (usually performed by read-depth analysis of next generation sequencing data). For issues to consider in interpretation of sequence analysis results, click here.

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. If deletion/duplication analysis is not performed with sequence analysis (e.g., read-depth analysis), alternate methods may include quantitative PCR, multiplex ligation-dependent probe amplification (MLPA), or FISH.

Evans et al [2010], Sabbagh et al [2013], Giugliano et al [2019]

Maruoka et al [2014], van Minkelen et al [2014], Pasmant et al [2015], Zhang et al [2015], Calì et al [2017], Bianchessi et al [2020]

Whole-gene deletions occur in 5%-11% of individuals with NF1 [Kehrer-Sawatzki et al 2020].

Stenson et al [2020]

Chromosomal microarray analysis (CMA) uses oligonucleotide or SNP arrays to detect genome-wide large deletions/duplications (including NF1) that may not be detected by sequence analysis. The ability to determine the size of the deletion/duplication depends on the type of microarray used and the density of probes in the 17q11.2 region. CMA designs in current clinical use target the 17q11.2 region.