Table 1.

Molecular Genetic Testing Used in EBF3 Neurodevelopmental Disorder

Gene 1MethodProportion of Families with a Pathogenic Variant 2, 3 Detectable by Method
EBF3 Sequence analysis 439/39 5
Gene-targeted deletion/duplication analysis 6Unknown 7
1.
2.

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

3.

See Genetically Related Disorders for information (not included in these calculations) on additional individuals with either a contiguous gene deletion [Lopes et al 2017, Ignatius et al 2020, Turro et al 2020] or a balanced 10;22 translocation disrupting EBF3 [Murcia Pienkowski et al 2019].

4.

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.

5.
6.

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.

7.

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

From: EBF3 Neurodevelopmental Disorder

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