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 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.

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.

Dagoneau et al [2004], Morales et al [2009], Kutz et al [2011], Pimienta et al [2013], Li et al [2014]

A whole-gene deletion has been reported as a founder variant in the Amish population [Strauss & Puffenberger 2009].

Morales et al [2009], Shah et al [2014], Yi et al [2019], Karoulias et al [2020]

Faivre et al [2003b], De Backer et al [2007], Sengle et al [2012], Cecchi et al [2013], Lerner-Ellis et al [2014], Wang et al [2014], Newell et al [2017], Groth et al [2017]

De Backer et al [2007], Groth et al [2017]

Haji-Seyed-Javadi et al [2012]