rs121912581(A;G)
From SNPedia
| Is a | genotype |
| of | rs121912581 |
| Gene | SMAD4 |
| Chromosome | 18 |
| Position | 51,065,521 |
| Merged from | Rs28936394 |
| mentioned | by |
| Magnitude | 5.1 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 5.1 | |
| (G;G) | 0 | common in clinvar |
Juvenile polyposis syndrome
This is a genotype with recommended actions if clinically confirmed. In brief:
- Juvenile polyposis syndrome (JPS) is characterized by predisposition to hamartomatous polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum.
- Mutations in the BMPR1A and SMAD4 genes may lead to JPS. In most individuals with a SMAD4/JPS mutation, hereditary hemorrhagic telangiectasia (HHT) is also present.
- JPS usually manifests during childhood with polyps beginning to appear in the first decade of life. The average age at diagnosis is 18.5.
- Colonoscopy is recommended in patients with JPS. Recommended starting age ranges across guidelines from 12-18, while frequency ranges from annually to every 3 years.
- Upper endoscopy is also recommended in patients with JPS.
The full ClinGen Actionability report about Juvenile polyposis syndrome (JPS) 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.
