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.

Di Paola & Porter [2019]

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.

Paulsson et al [2010] reported one affected individual with an intragenic deletion involving exon 2.

Ross et al [2019] described a family in which individuals had a contiguous gene deletion that included ETV6. Rampersaud et al [2019] reported a germline 75-base-pair deletion of ETV6 at the intron 6-exon 7 junction in all affected individuals. 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 Ross et al [2019]) may not be detected by these methods.

Järviaho et al [2019] described a pedigree in which two second-degree relatives developed B-ALL and were found to have a constitutional, balanced translocation involving ETV6 (t(12;14)(p13.2;q23.1). An additional seven family members were found to harbor the same translocation but did not have a history of leukemia. No family members had thrombocytopenia.