| Macrocephaly/autism syndrome; Bannayan-Riley-Ruvalcaba syndrome |
| Geno
|
Mag
|
Summary
|
| (C;C)
|
0
|
common in clinvar
|
| (C;T)
|
6.3
|
Macrocephaly/autism syndrome; Bannayan-Riley-Ruvalcaba syndrome
|
Considered pathogenic in ClinVar. This is a genotype with recommended actions if clinically confirmed. In brief:
- Have annual comprehensive physical exams, especially for skin, mucous membranes, thyroids and breasts, plus urinalysis.
- Women should have annual mammograms and breast MRI screening starting at age 30 and self-exam starting at age 18; also, consider endometrial biopsies and/or ultrasound from age 30.
- Thyroid ultrasound, colonoscopy and renal ultrasound exams are recommended starting at ages 18, 35 and 40, respectively.
- Genetic counseling and/or testing is recommended for at-risk relatives.
The full ClinGen Actionability report about PTEN Hamartoma Tumor Syndrome - Cowden Syndrome 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.
