See Table A. Genes and Databases for chromosome locus and protein.

See Molecular Genetics for information on variants detected in this gene.

Several additional individuals with contiguous gene deletions in the 3p21.31 region (not included in these calculations) have been reported (see Genetically Related Disorders) [Lovrecic et al 2016].

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.

O'Roak et al [2012a], O'Roak et al [2012b], Luscan et al [2014], Lumish et al [2015], Marzin et al [2019], Rabin et al [2020]

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 Lovrecic et al [2016]) may not be detected by these methods.

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