rs104894437(A;T)
From SNPedia
dystonia due on GCH1 loss-of-function mutation |
Is a | genotype |
of | rs104894437 |
Gene | GCH1 |
Chromosome | 14 |
Position | 54,865,379 |
mentioned | by |
Magnitude | 4.4 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;T) | 4.4 | dystonia due on GCH1 loss-of-function mutation |
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.