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From SNPedia
Tuberous Sclerosis Complex
Is agenotype
Geno Mag Summary
(-;C) 6.3 Tuberous Sclerosis Complex
(C;C) 0 common in clinvar

This is a genotype with recommended actions if clinically confirmed. In brief:

  • Tuberous sclerosis complex (TSC) is a rare, slowly progressive disorder characterized by the pervasive but quite variable formation of benign tumors in the brain, skin, kidneys, heart, lungs, retina, and other organs.
  • Because of the variability of TSC, non-invasive but comprehensive investigations of different organ systems are needed, like a neurological examination, annual screening and monitoring of renal lesions and blood pressure, MRI of the brain, cardiology examination, ultrasound of the heart, ophthalmological examination, dermatological examination, and ultrasound or CT-scan of the abdomen.
  • Patients with TSC who would like to become pregnant should have a genetic consultation before any conception and should be informed of risks during pregnancy.
  • It is imperative to monitor at least annually for TSC-specific neuropsychiatric features and their impact on daily living at each follow-up clinic visit.

The full ClinGen Actionability report about Tuberous sclerosis complex (TSC) 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.