RILPL1 Repeat Expansion Testing

Description

Pathogenic CGG repeat expansions within the 5′ untranslated region of the RILPL1 gene have been associated with autosomal dominant oculopharyngodistal myopathy-4 (OPDM4).

Pathogenicity is dependent upon CGG repeat length according to the following ranges 1-3:

Normal Alleles

Mutable Normal Alleles

Intermediate/Uncertain Alleles

Reduced Penetrance Alleles

Full Penetrance Alleles

40 or fewer

-

41-100

-

101 or more

Note: As OPMD4 is typically adult onset, RILPL1 repeat expansions are not reported in minors in comprehensive analyses.

Tests That Analyze RILPL1 Repeats