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

See Molecular Genetics for information on allelic 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, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

Cruts et al [2006], Chen-Plotkin et al [2011], Van Langenhove et al [2013], Pottier et al [2018]. Note: Pottier et al [2018] identified 449 affected individuals with GRN disease-associated variants detected by sequence and deletion/duplication analysis in the ascertainment step of a genome-wide association study (see Pottier et al [2018], Supplementary Table 2).

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include a range of techniques such as quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications. Gene-targeted deletion/duplication testing will detect deletions ranging from a single exon to the whole gene; however, breakpoints of large deletions and/or deletion of adjacent genes (e.g., those described by Milan et al [2017]) may not be detected by these methods.

Gijselinck et al [2008], Pickering-Brown et al [2008], Rovelet-Lecrux et al [2008], Finch et al [2009], Chen-Plotkin et al [2011], Rohrer et al [2013], Van Langenhove et al [2013], Clot et al [2014]