Table 1.

Molecular Genetic Testing Used in TEK-Related Venous Malformations

Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
TEK Sequence analysis 3, 4~100% 5
Deletion/duplication 4None detected 4, 5
1.

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

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 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.

4.

Gene-targeted deletion/duplication analysis is not indicated as most identified pathogenic TEK variants to date are single-nucleotide variants.

5.

Vikkula et al [1996], Calvert et al [1999], Wouters et al [2010], and data derived from the subscription-based professional view of Human Gene Mutation Database [Stenson et al 2020]

From: TEK-Related Venous Malformations

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