ATXN10 Repeat Expansion Testing
Description
Pathogenic pentanucleotide ATTCT/ATTCC repeat expansions within an intron of the ATXN10 gene have been associated with autosomal dominant spinocerebellar ataxia 10 (SCA10). The pathogenic repeat expansions can lead to toxic RNA foci.
Pathogenicity is dependent upon ATTCT/ATTCC repeat length according to the following ranges 1-3:
Normal Alleles | Mutable Normal Alleles | Intermediate or Uncertain Alleles | Reduced Penetrance Alleles | Full Penetrance Alleles |
10-32 ATTCT | - | 33-279 ATTCT/ATTCC* | 280-799 ATTCT/ATTCC | 800 ATTCT/ATTCC or more** |
*Alleles in this range may show reduced penetrance.
**Penetrance for pure uninterrupted ATTCT repeats or repeats in the 800-850 range may be reduced.
Tests That Analyze ATXN10 Repeats
- Genomic Unity® 2.0
- Genomic Unity® Whole Genome Analysis
- Genomic Unity® Lightning Genome Analysis – Pediatric
- Genomic Unity® Lightning Genome Analysis – Standard
- Genomic Unity® Exome Plus Analysis
- Genomic Unity® Exome Analysis
- Genomic Unity® Movement Disorders Analysis
- Genomic Unity® Comprehensive Ataxia Analysis
- Genomic Unity® Ataxia Repeat Expansion Analysis
- Genomic Unity® Nephrology Disorders Analysis
- Genomic Inform®