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.