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From SNPedia
Macrocephaly/autism syndrome; Bannayan-Riley-Ruvalcaba syndrome
Is agenotype
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.