VWA1 Repeat Expansion Testing

Description

Biallelic pathogenic variants in the VWA1 gene, including GGCGCGGAGC repeat expansions, have been associated with autosomal recessive distal hereditary motor neuronopathy-7 (HMNR7).

Pathogenicity is dependent upon GGCGCGGAGC repeat length according to the following ranges 1-2:

Normal Alleles

Mutable Normal Alleles

Intermediate or Uncertain Alleles

Reduced Penetrance Alleles

Full Penetrance Alleles

2

-

-

-

3 or more*

*Repeat expansions may occur in the homozygous state or compound heterozygous state with a pathogenic variant on the other allele.

Tests That Analyze VWA1 Repeats