NF2
| is a | gene |
| is | mentioned by |
| ClinVar | NF2 |
| GeneCards | NF2 |
| Diseases | NF2 |
| wikipedia | NF2 |
| NF2 | |
| gopubmed | NF2 |
| EVS | NF2 |
| HEFalMp | NF2 |
| MyGene2 | NF2 |
| 23andMe | NF2 |
| # SNPs | 40 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| i5000181 | |||
| i5000182 | |||
| i5000183 | |||
| i5000184 | |||
| i5000185 | |||
| i5000186 | |||
| i5000187 | |||
| i5000188 | |||
| i5000189 | |||
| i5000190 | |||
| i5000191 | |||
| i5000192 | |||
| i5038615 | |||
| rs1060503666 | 7.5 | 29,661,203 | |
| rs1060503667 | 7.5 | 29,642,270 | |
| rs1060503670 | 7.5 | 29,655,592 | |
| rs1064796632 | 0 | 29,655,593 | |
| rs121434259 | 7.5 | 29,636,805 | |
| rs121434260 | 7.5 | 29,639,135 | |
| rs121434261 | 7.5 | 29,636,821 | |
| rs587776562 | 7.5 | 29,636,877 | |
| rs587776563 | 0 | 29,668,442 | |
| rs587776564 | 0 | 29,636,761 | |
| rs587776565 | 0 | 29,636,841 | |
| rs74315492 | 0 | 29,671,905 | |
| rs74315493 | 7.5 | 29,681,468 | |
| rs74315494 | 7.5 | 29,681,477 | |
| rs74315495 | 7.5 | 29,655,621 | |
| rs74315496 | 7.5 | 29,661,313 | |
| rs74315497 | 7.5 | 29,668,405 | |
| rs74315498 | 0 | 29,671,910 | |
| rs74315499 | 7.5 | 29,671,847 | |
| rs74315500 | 0 | 29,668,417 | |
| rs74315501 | 7.5 | 29,673,365 | |
| rs74315503 | 7.5 | 29,674,882 | |
| rs74315504 | 7.5 | 29,674,891 | |
| rs74315505 | 7.5 | 29,681,443 | |
| rs755032702 | 0 | 29,681,566 | |
| rs794728682 | 7.5 | 29,661,340 | |
| rs878853925 | 7.5 | 29,681,491 |
The NF2 gene on chromosome 22 provides instructions for the production of a protein called merlin, also known as schwannomin. This protein is made in the nervous system, particularly in specialized cells called Schwann cells that wrap around and insulate nerves. Mutations in the NF2 gene, inherited in a dominant manner, may lead to neurofibromatosis, type 2.GHR
With an estimated prevalence of between 1:30,000 - 1:60,000 people worldwide, neurofibromatosis type 2 is a disorder characterized by the growth of noncancerous tumors in the nervous system. The most common tumors associated with neurofibromatosis type 2 are called vestibular schwannomas or acoustic neuromas. These growths develop along the nerve that carries information from the inner ear to the brain (the auditory nerve). The signs and symptoms of neurofibromatosis type 2 usually appear during adolescence or in a person's early twenties, although they can begin at any age. The most frequent early symptoms of vestibular schwannomas are hearing loss, ringing in the ears (tinnitus), and problems with balance. In most cases, these tumors occur in both ears by age 30. If tumors develop elsewhere in the nervous system, signs and symptoms vary according to their location.GHR
Disease-causing mutations in the NF2 gene are considered clinically actionable by ClinGen.
