Table 1.

Molecular Genetic Testing Used in Familial Exudative Vitreoretinopathy, Autosomal Dominant

Gene 1Proportion of adFEVR Attributed to Pathogenic Variants in GeneMethodVariants Detected 2
FZD4 4%-40%Sequence analysis 3Sequence variants
LRP5 12%-25%
TSPAN12 3%-10%
1.

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

2.

See Molecular Genetics for information on allelic variants.

3.

Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. 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.

From: Familial Exudative Vitreoretinopathy, Autosomal Dominant – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY

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