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NF2

From SNPedia
is agene
is mentioned by
ClinVarNF2
GeneCardsNF2
DiseasesNF2
wikipediaNF2
googleNF2
gopubmedNF2
EVSNF2
HEFalMpNF2
MyGene2NF2
23andMeNF2
# SNPs39
 Max MagnitudeChromosome positionSummary
i5000181
i5000182
i5000183
i5000184
i5000185
i5000186
i5000187
i5000188
i5000189
i5000190
i5000191
i5000192
i5038615
rs10605036667.529,661,203
rs10605036677.529,642,270
rs10605036707.529,655,592
rs1064796632029,655,593
rs1214342597.529,636,805
rs1214342607.529,639,135
rs1214342617.529,636,821
rs5877765627.529,636,877
rs587776563029,668,442
rs587776564029,636,761
rs587776565029,636,841
rs74315492029,671,905
rs743154937.529,681,468
rs743154947.529,681,477
rs743154957.529,655,621
rs743154967.529,661,313
rs743154977.529,668,405
rs74315498029,671,910
rs743154997.529,671,847
rs74315500029,668,417
rs743155017.529,673,365
rs743155037.529,674,882
rs743155047.529,674,891
rs743155057.529,681,443
rs7947286827.529,661,340
rs8788539257.529,681,491

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.