Table 1.

Molecular Genetic Testing Used in WFS1 Spectrum Disorder

Gene 1MethodProportion of Pathogenic Variants 2 Identified by Method
WFS1 Sequence analysis 3>95% 4
Gene-targeted deletion/duplication analysis 53 reported 6
1.
2.

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

3.

Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include missense, nonsense, and splice site variants and small intragenic deletions/insertions; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

4.

Hardy et al [1999], Chaussenot et al [2015], and data derived from the subscription-based professional view of Human Gene Mutation Database [Stenson et al 2020] and Leiden Open Variation Database [Astuti et al 2017]

5.

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.

6.

Three intragenic deletions of one or more exons have been described [Chaussenot et al 2015]. Structural rearrangements have also been described [Elli et al 2012].

From: WFS1 Spectrum Disorder

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