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

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

Grønskov et al [2001], Robinson et al [2008], Blanco-Kelly et al [2017], Vasilyeva et al [2017]

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, C-terminal extension (CTE) variants 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.

Redeker et al [2008], Bobilev et al [2016], Richardson et al [2016], Blanco-Kelly et al [2017], Sannan et al [2017], Vasilyeva et al [2017]

In one individual a heterozygous single-nucleotide variant in the ultraconserved PAX6 cis-regulatory element (SIMO) (residing 150 kb downstream from PAX6 in intron 9 of ELP4) has been reported to cause isolated aniridia [Bhatia et al 2013].

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.

Leiden Open Variation Database (LOVD) and Chao et al [2003], Redeker et al [2008], Aradhya et al [2012], Lim et al [2012], Han et al [2013], Ansari et al [2016], Bobilev et al [2016], Blanco-Kelly et al [2017], Vasilyeva et al [2017]. Note: Many reported large deletions (encompassing PAX6 but not WT1 OR involving EPL4 and DCDC1 downstream of PAX6) would be detectable by CMA.

Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome caused by deletion of PAX6 and WT1

GRCh37/hg19 chr11:31,803,509-32,510,988: Genomic coordinates represent the minimum deletion size associated with the 11p13 recurrent deletion as designated by ClinGen. Deletion coordinates may vary slightly based on array design used by the testing laboratory. Note that the size of the deletion as calculated from these genomic positions may differ from the expected deletion size due to the presence of segmental duplications near breakpoints.

Standardized clinical annotation and interpretation for genomic variants from the Clinical Genome Resource (ClinGen) project (formerly the International Standards for Cytogenomic Arrays [ISCA] Consortium)

Chromosome microarray analysis (CMA) using oligonucleotide arrays (i.e., array comparative genomic hybridization) and/or SNP genotyping arrays. CMA designs in current clinical use target the 11p13 region.

FISH is not appropriate as a diagnostic method for an individual in whom the 11p13 deletion syndrome was not detected by CMA designed to target this region.

FISH, qPCR, or other quantitative methods of targeted deletion analysis can be used to identify the 11p13 deletion in at-risk relatives of the proband to help determine recurrence risk (see Genetic Counseling).