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.

Srour et al [2010], Depienne et al [2011], Djarmati-Westenberger et al [2011], Depienne et al [2012], Ahmed et al [2014], Méneret et al [2014a], Méneret et al [2014b], Franz et al [2015], Marsh et al [2017], Bierhals et al [2018], Sagi-Dain et al [2020]

Méneret et al [2014a]

Méneret et al [2017]

Srour et al [2010], Depienne et al [2011], Djarmati-Westenberger et al [2011], Depienne et al [2012], Ahmed et al [2014], Méneret et al [2014a], Méneret et al [2014b], Franz et al [2015], Trouillard et al [2016], Demirayak et al [2018]

Significant locus heterogeneity is hypothesized. Pathogenic variants in DNAL4 have been suggested, but not confirmed, as a cause of CMM [Ahmed et al 2014, Méneret et al 2014b].