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.

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.

Daoud et al [2013], Takanashi et al [2014], Wolf et al [2014], La Piana et al [2016]

Bernard et al [2011], Shimojima et al [2014], Potic et al [2015]

No data on detection rate of gene-targeted deletion/duplication analysis are available.

Gutierrez et al [2015], Jurkiewicz et al [2017]

Gutierrez et al [2015]

Thiffault et al [2015]