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

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

Additional individuals with contiguous gene deletions that include CHM (not included in these calculations) have been reported (see Genetically Related Disorders).

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 duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

McTaggart et al [2002], van den Hurk et al [2003]

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.

Copy number variants may represent up to 25% of instances in which Sanger sequencing did not identify a pathogenic variant and/or no REP1 was found with western analysis. These observations are based predominantly on persons of northern European heritage and on separate Chinese cohorts [Chi et al 2013, Furgoch et al 2014, Zhou et al 2017].