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

See Molecular Genetics for information on allelic 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.

Firth et al [2009], De Rubeis et al [2014], Iossifov et al [2014], Dias el al [2016], Cai et al [2017], Landrum et al [2018], Peron et al [2018], Soblet et al [2018], Yoshida et al [2018]

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.

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

Chromosomal microarray analysis (CMA) uses oligonucleotide or SNP arrays to detect genome-wide large deletions/duplications (including BCL11A) that cannot be detected by sequence analysis. The ability to determine the size of the deletion/duplication depends on the type of microarray used and the density of probes in the 2p15-p16.1 region. CMA designs in current clinical use target the 2p15-p16.2 region.

Includes partial or whole-gene deletions of BCL11A without disrupting other protein-coding genes (excludes contiguous gene deletion syndromes, namely 2p15-16.1 microdeletion syndrome).

Firth et al [2009], Peter et al [2014], Balci et al [2015], Peron et al [2018]