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; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

Archer et al [2006], Philippe et al [2006]

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 Hardwick et al [2007]) may not be detected by these methods.

The sizes of many reported disease-associated deletions are at the upper limits of detection by sequence analysis and the lower limits of detection by gene-targeted deletion/duplication analysis; therefore, the proportion of pathogenic variants detected by either method depends on the methods used by a laboratory.

Archer et al [2006], Pan et al [2006], Philippe et al [2006], Hardwick et al [2007], Zahorakova et al [2007]