NA = not applicable

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.

Several reported splice site variants may not be identified on sequence analysis [Wang et al 2015, Carroll et al 2015].

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.

A multiexon deletion that included the promoter and exons 1-4 was reported in one individual [Boerkoel et al 2002].

The presence of individuals with clinical features of SIOD who do not have identifiable pathogenic variants in SMARCAL1 [Clewing et al 2007b] suggests that pathogenic variants in other, as yet unidentified genes can also cause SIOD.