AR = autosomal recessive; MOI = mode of inheritance; XL = X-linked

Genes are listed in alphabetic order.

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.

Wehner et al [1994], Bruno et al [1998], Burwinkel et al [2003a], Wuyts et al [2005], Ørngreen et al [2008], Echaniz-Laguna et al [2010], Preisler et al [2012]

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

Hendrickx et al [1999], Beauchamp et al [2007], Davit-Spraul et al [2011], Wang et al [2013], Brown et al [2015], Choi et al [2016]

Davit-Spraul et al [2011], Wang et al [2013], Brown et al [2015], Choi et al [2016]

Burwinkel et al [1997a], Burwinkel et al [1997b], Burwinkel et al [2003a], Beauchamp et al [2007], Davit-Spraul et al [2011], Brown et al [2015]

Burwinkel et al [1997a], Alfadhel et al [2016]

Burwinkel et al [1998b], Burwinkel et al [2003b], Beauchamp et al [2007], Davit-Spraul et al [2011], Bali et al [2014], Brown et al [2015]