Gs305
From SNPedia
| Gs305 | |
|---|---|
| Magnitude | 5 |
| Repute | Bad |
| Summary | Likely carrier of one PiS and one PiZ Alpha-1 Antitrypsin (SERPINA1) alleles; A1AT deficiency |
| Criteria | Gs305/criteria |
If the PiS mutation is on a different allele (i.e. chromosome) from the PiZ mutation, which is likely, then this genotype represents a "Pi*SZ" individual.
This is a genotype with recommended actions if clinically confirmed. In brief:
- Consider getting tested for A1AT deficiency.
- Avoid smoking (and smoke) to reduce COPD risk.
- Be aware of liver disease potential and need for monitoring; minimize alcohol consumption.
- Reduce exposure to dust, fumes, gases and air pollutants if possible.
- Those positive for A1AT deficiency should inform their relatives, especially siblings whose risk of A1AT deficiency is 25%.
The full ClinGen Actionability report about A1AT deficiency 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.
