| Geno
|
Mag
|
Summary
|
| (A;T)
|
5.5
|
Neurofibromatosis type 1
|
| (T;T)
|
0
|
common in clinvar
|
This is a genotype with recommended actions if clinically confirmed. In brief:
- Characteristics symptoms of Neurofibromatosis type 1 (NF1) include multiple café-au-lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas (benign peripheral nerve sheath tumors), iris Lisch nodules (hamartomas), and characteristics bony dysplasia of the long bones and sphenoid wing.
- Management of those with NF1 mutations is often at a specialized "Neurofibromatosis Clinic", where considerable expertise representing multiple medical disciplines can be gathered.
- Women with NF1 mutations have an estimated 3-fold higher risk of developing breast cancer before age 50 years compared to the general population.
- Women should be offered an annual mammogram starting at age 30 and could consider breast MRI with contrast from ages 30-50 years.
- Patients should be offered the opportunity of attending a specialist NF1 clinic, typically run by geneticists and neurologists, on an annual basis.
- Adults without symptoms should be aware of unusual symptoms, particularly the clinical features of malignant peripheral nerve sheath tumors and of spinal cord compression, and monitor their blood pressure.
- When caring for pregnant women, close liaison between the obstetrician and neurofibromatosis clinician is important due to the potential for neurofibromas to grow in size and number and to monitor hypertension.
The full ClinGen Actionability report about Neurofibromatosis type 1 (NF1) 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.
