SOX3 Repeat Expansion Testing

Description

Pathogenic polyalanine repeat expansions within the first exon of the SOX3 gene have been associated with X-linked panhypopituitarism (PHPX) and intellectual developmental disorder with isolated growth hormone deficiency (XLMR).

Pathogenicity is dependent upon polyalanine repeat length according to the following ranges:

Normal Alleles

Mutable Normal Alleles

Intermediate/Uncertain Alleles

Reduced Penetrance Alleles

Full Penetrance Alleles

15

-

16-21

-

22 or more

Tests That Analyze SOX3 Repeats