rs104894441(A;T)
From SNPedia
| dystonia due on GCH1 loss-of-function mutation |
| Is a | genotype |
| of | rs104894441 |
| Gene | GCH1 |
| Chromosome | 14 |
| Position | 54,865,376 |
| mentioned | by |
| Magnitude | 4.4 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;T) | 4.4 | dystonia due on GCH1 loss-of-function mutation |
| (T;T) | 0 | common in clinvar |
The degree of dystonia may vary; see the discussion on the SNPedia GCH1 webpage. This is a genotype with recommended actions if clinically confirmed. In brief:
- Be aware that penetrance varies widely, including between genders.
- Have an exam by a movement disorder specialist at least several times a year.
- If diagnosed, consider levodopa administration.
- Evaluate relatives at risk in order to identify as early as possible those who would benefit from initiation of treatment.
The full ClinGen Actionability report about GCH1-deficient dopa-responsive dystonia (DRD) can be found here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.
