Pathogenic in ClinVar; see sidebar on main SNP page. This is a genotype with recommended actions if clinically confirmed. In brief:
- Be aware that penetrance is close to 100%; virtually everyone who has an NF2 disease-causing mutation will develop it in an average lifetime.
- Regular screening (MRI, neurological & spinal, audiology) is recommended beginning at diagnosis, or earlier for family members.
- MRI screening every 2 years for patients less than 20 and every 3 years for older patients should be sufficient for at-risk patients without tumors. The initial MRI scan could be at 10-12 years of age, or earlier in severely affected families.
- Annual audiological tests, including auditory brainstem response, may be useful.
- At diagnosis, the following evaluations are recommended: head MRI, hearing evaluation including BAER, ophthalmologic evaluation, cutaneous evaluation, and a genetics consultation.
- NF2 patients should be managed in specialty centers. NF2 patients who are managed at specialty centers have a significantly lower risk of mortality than those who are treated at non-specialty centers.
- Hearing preservation and augmentation are important in the management of individuals with NF2; all affected individual and their families should be referred to an audiologist.
- Children of affected patients should be considered at 50% risk of NF2 and screening for NF2 can start at birth. All NF2 patients and their families should have access to genetic testing; presymptomatic genetic testing is an integral part of the management of NF2, allowing for presymptomatic clinical screening.
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.