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, unless the testing is on a whole genome sequencing platform. For issues to consider in interpretation of sequence analysis results, click here.

Data derived from the subscription-based professional view of Human Gene Mutation Database [Stenson et al 2020] and from Rodríguez-Palmero et al [2021]

For synonymous or deep intronic variants that are predicted to affect splicing by in silico tools, RNA testing (RT-PCR or RNA sequencing) on blood can be considered to establish the pathogenicity of the variant [Z Tümer, personal observation] (see Molecular Genetics).

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 Zeesman et al [2012]) may not be detected by these methods. For review of individuals with a larger 17p13.1 deletion that include DLG4 and adjacent genes, see Genetically Related Disorders.

Gene-targeted deletion/duplication analysis has not identified any deletions/duplications to date [Rodríguez-Palmero et al 2021].