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 missense, nonsense, and splice site variants and small intragenic deletions/insertions. For issues to consider in interpretation of sequence analysis results, click here.

Johnston et al [2005], Debeer et al [2007], Johnston et al [2010], Démurger et al [2015]

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. Some laboratories offer deletion/duplication analysis using exome or genome sequence data. 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 Johnston et al [2010] and Démurger et al [2015]) may not be detected by these methods.

A small number of individuals with translocations involving 7p14.1 have been reported [Tommerup & Nielsen 1983, Krüger et al 1989, Debeer et al 2003].