rs80358233

rs80358233, also known as deltaE302, c.907_909delGAG, or p.Glu303del, is a mutation in the TOR1A gene. Note that this gene may also be known as the DYT1 gene. The risk allele rs80358233(-), i.e. the deletion, can be inherited as an autosomal dominant such that one copy is sufficient to cause torsion dystonia. However, more than half of carriers of such mutations don't exhibit symptoms, for reasons that remain unclear. However, the vast majority of cases that are diagnosed are associated with this (deltaE302) mutation, and it is a mutation most associated with Ashkenazi Jews. Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant torsion dystonia (type 1). Note that the clinical disease occurs in only 30% of mutation carriers, so in genetic terms, the penetrance is relatively low. A variant in another gene has been reported that modifies disease risk; see rs1801968 for details. 23andMe name: i4000446

-;GAG

Reported to have roughly a 1 in 3 chance of developing symptoms torsion dystonia, usually beginning around age 12.