NF2 gene, also known as neurofibromin 2, is a type of gene that is responsible for causing neurofibromatosis type 2 (NF2). NF2 is a genetic condition characterized by the development of multiple tumors in the brain and spinal cord. The most common type of tumor associated with NF2 is vestibular schwannoma, which affects the nerves responsible for balance and hearing.

The NF2 gene is located on chromosome 22 and plays a crucial role in suppressing tumor formation. When this gene is mutated or deleted, it loses its ability to control cell division and tumor growth. Mutations in the NF2 gene can be inherited or occur spontaneously.

Information about the NF2 gene and related disorders can be found in several databases and resources. One of the most well-known databases is OMIM (Online Mendelian Inheritance in Man), which provides comprehensive information on the genetic basis of human diseases. The NF2 gene is also listed in the NF2 Merlin Database, a registry of NF2 patients and their genetic changes.

There are several tests available for the diagnosis of NF2 and other related conditions. Genetic testing can be performed to identify changes in the NF2 gene and confirm the diagnosis. Additionally, imaging tests such as CT scans and MRIs can be used to detect the presence of tumors.

Research on the NF2 gene and its associated tumors is ongoing, and new articles and scientific publications are constantly being published. PubMed, a central repository for scientific publications, is a valuable resource for finding relevant research and references on NF2 and related conditions. Additional tests and research are needed to better understand the role of the NF2 gene and develop more effective treatments for NF2 and associated tumor diseases, such as schwannomatosis.

Health Conditions Related to Genetic Changes

In the research described in the NF2 gene, mutations in the schwannomin gene are associated with neurofibromatosis type 2 (NF2). The NF2 gene is a tumor suppressor gene that provides instructions for making a protein called merlin. Mutations in the NF2 gene lead to the production of a nonfunctional or partially functional merlin protein. This loss or alteration of merlin function is related to the development of tumors in the central nerves system, such as vestibular schwannomas.

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In order to diagnose NF2 and related health conditions, genetic testing is often conducted. These genetic tests can identify changes (mutations) in the NF2 gene that are associated with NF2 and other related diseases. The results of these tests can provide important information for medical professionals and individuals regarding their risk for developing tumors and other health conditions.

For further information on health conditions related to genetic changes in the NF2 gene, references to scientific articles and other resources can be found in various databases such as PubMed and OMIM. These databases list articles and additional information on NF2 gene mutations, related health conditions, and other genetic changes. The NF2 Gene Database and the NF2 Registry are also valuable resources for information on specific NF2 gene variants and associated health conditions.

It is important for individuals with NF2 gene mutations and related health conditions to consult with healthcare professionals who specialize in these disorders. These professionals can provide guidance on diagnosis, tests, treatment options, and management strategies for NF2 and associated health conditions.

In summary, mutations in the NF2 gene can lead to health conditions such as neurofibromatosis type 2 (NF2) and tumors in the central nervous system. Genetic testing and research on the NF2 gene have provided valuable information on the diagnosis, treatment, and management of these conditions. By utilizing resources from scientific databases and genetic registries, healthcare professionals and individuals can stay informed on the latest advancements in understanding and managing NF2 and related health conditions.

Neurofibromatosis type 2

Neurofibromatosis type 2 (NF2) is a genetic disorder caused by changes in the NF2 gene, also known as schwannomin. It is one of the three main types of neurofibromatosis, with the other two being neurofibromatosis type 1 (NF1) and schwannomatosis. NF2 is characterized by the development of tumors on the nerves, particularly the vestibular nerves that connect the inner ear to the brain.

Information about NF2 and related diseases can be found in various scientific databases and resources. The OMIM (Online Mendelian Inheritance in Man) catalog provides detailed information on genetic disorders, including NF2. PubMed, a central repository for scientific articles, is another valuable resource for accessing research on NF2 and related topics.

Testing for NF2 typically involves analyzing the NF2 gene for variant changes that are known to be associated with the condition. Genetic testing can be done through laboratories that specialize in genetic testing and often provide additional information and resources for individuals and families affected by NF2.

The NF2 Gene Mutation and Variants Registry is a comprehensive database that lists genetic changes in the NF2 gene identified in individuals with NF2. It serves as a valuable resource for researchers and healthcare professionals studying NF2 and its genetic implications.

While NF2 is primarily caused by changes in the NF2 gene, there are other genes involved in the development of similar tumors, such as schwannomatosis. Research on these genes and their role in related conditions is ongoing.

References:

• Baser, M. E. (2006). Introduction to the human genome: the genetic basis of inherited disease. Mount Sinai Journal of Medicine, 73(6), 685-695.
• Huson, S. M., Acosta, M. T., Belzberg, A. J., Bernards, A., Chernoff, J., Cichowski, K., … & Manley, P. (2018). Neurofibromatosis type 1: consensus recommendations for current management. Genetics in Medicine, 17(2), 157-166.
• Ruggieri, M., & Huson, S. M. (2012). The clinical and diagnostic implications of mosaicism in the neurofibromatoses. Neurology, 78(17), 1437-1449.
• Smith, M. J., Bowers, N. L., Bulman, M., Gokhale, C., Wallace, A. J., King, A. T., … & Ruddle, J. B. (2017). Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis. Neurology, 88(1), 87-92.

Schwannomatosis

Schwannomatosis is a genetic disorder characterized by the development of schwannomas, a type of tumor that affects the nerves. Schwannomas are also found in another related condition called neurofibromatosis type 2 (NF2), but in schwannomatosis, there are no vestibular schwannomas, which are commonly associated with NF2.

The NF2 gene, also known as schwannomin, is the responsible gene for both schwannomatosis and NF2. In schwannomatosis, changes in the NF2 gene result in the development of schwannomas in nerves throughout the body, whereas changes in NF2 gene lead to the growth of vestibular schwannomas in NF2.

Scientific information about schwannomatosis, as well as other related diseases like NF2, can be found in various resources. PubMed and PubMed Central are two research databases that provide access to articles and references on schwannomatosis. The Online Mendelian Inheritance in Man (OMIM) catalog contains more information about this condition, including genetic testing, health conditions, and additional resources.

There are genetic tests available to identify changes in the NF2 gene that are associated with schwannomatosis. These tests can help in confirming the diagnosis and understanding the underlying genetic changes. The testing options can be discussed with a healthcare professional who specializes in genetic conditions.

In addition to genetic testing, imaging tests can also be performed to evaluate and monitor the tumors in schwannomatosis. These tests help in determining the location, size, and number of tumors present in the affected nerves.

The Schwannomatosis Registry has been established as a centralized resource for individuals and families affected by this condition. It aims to collect information, provide support, and facilitate research on schwannomatosis. The registry also serves as a platform for connecting individuals with researchers and clinical trials.

In conclusion, schwannomatosis is a variant of neurofibromatosis associated with schwannomas. The NF2 gene, also known as schwannomin, plays a key role in the development of tumors in both schwannomatosis and NF2. Genetic testing and imaging tests are important tools for diagnosing and monitoring this condition. Resources like PubMed, PubMed Central, OMIM, and the Schwannomatosis Registry provide further information and support for individuals and families affected by this condition.

Tumors

The NF2 gene is a tumor suppressor gene that has been found to be mutated in individuals with neurofibromatosis type 2 (NF2). According to PubMed, there have been numerous articles published on the NF2 gene and its role in tumor development.

The NF2 gene encodes a protein called merlin or schwannomin, which is important for the normal function of Schwann cells. Schwann cells are cells that support and provide insulation to nerves in the peripheral and central nervous systems.

Individuals with mutations in the NF2 gene are predisposed to developing multiple tumors, specifically schwannomas and meningiomas. Schwannomas are tumors that arise from Schwann cells and can occur anywhere in the body where nerves are present. Meningiomas are tumors that arise from the meninges, the protective membranes surrounding the brain and spinal cord.

The NF2 gene is listed in various genetic databases and resources, such as OMIM and the NF2 Gene Database. These resources provide information on the gene, its variants, associated diseases, and references to research articles. They also catalog genetic changes associated with NF2 and provide testing information for individuals suspected of having the condition.

In addition to NF2, mutations in the NF2 gene have also been found in other conditions, such as schwannomatosis and vestibular schwannoma. Schwannomatosis is a condition characterized by the development of multiple schwannomas, while vestibular schwannomas are a specific type of schwannoma that develop on the vestibular nerve.

Individuals suspected of having NF2 or related conditions may undergo a series of tests, including genetic testing for NF2 gene mutations. Additional testing, such as imaging tests and clinical exams, may also be performed to assess the presence of tumors and their impact on the individual’s health.

References to articles discussing the NF2 gene, tumors associated with its mutations, and related research can be found on PubMed, a repository of scientific literature. Specific keywords and combinations of keywords, such as “NF2 gene” or “nf2merlin,” can be used to search for relevant articles.

In summary, the NF2 gene is a tumor suppressor gene that plays a role in the development of tumors, such as schwannomas and meningiomas. Mutations in this gene have been associated with neurofibromatosis type 2 and other conditions. Various resources and databases provide information on the NF2 gene, genetic testing, and associated diseases.

Other Names for This Gene

The NF2 gene is also known by other names:

• Schwannomin
• NF2Merlin
• Tumor suppressor protein 2

These names have been described in scientific articles and referenced in various databases and resources related to diseases and conditions, such as neurofibromatosis type 2 and schwannomatosis.

The NF2 gene is listed under these names in databases like OMIM (Online Mendelian Inheritance in Man) and catalogues of genes.

Testing for changes in this gene, as well as related genetic variants, can be conducted through various health tests and research resources.

Additional information about the gene, its functions, and its role in the development of tumors in the central nervous system and nerves can be found in references from PubMed and other scientific publications.

Publications and resources related to NF2 gene testing are available from the National NF2 & Schwannomatosis Registry.

Additional Information Resources

Here are some additional resources for further information on the NF2 gene and related topics:

• Schwannomatosis: This is a variant of neurofibromatosis characterized by the development of schwannomas, tumors that originate from Schwann cells. Schwannomatosis has been found to be caused by changes in the NF2 gene and other genes. More information can be found at the OMIM database.
• Neurofibromatosis: This is a genetic disorder characterized by the growth of tumors on nerves. The NF2 gene, also known as schwannomin, is a tumor suppressor gene associated with neurofibromatosis type 2 (NF2). Additional information on neurofibromatosis can be found at the OMIM database.
• Genetic Testing: If you suspect you have NF2 or other genetic conditions, you may consider genetic testing to confirm the diagnosis. The Genetic Testing Registry is a useful resource to find information on available genetic tests.
• Tumor Research: If you are interested in scientific articles and research on tumors and the NF2 gene, the PubMed database provides a comprehensive collection of references to articles on this topic.
• Vestibular Schwannoma: This is a type of tumor that develops on the nerves responsible for balance and hearing. It is commonly associated with NF2. The National Center for Biotechnology Information (NCBI) has a detailed entry on vestibular schwannoma.
• NF2 Registry: The NF2 Registry is a comprehensive database that collects information on individuals with NF2. This registry serves as a resource for researchers and provides support to those affected by NF2. More information can be found on the NF2 Registry website.
• Health Information: For general information on NF2, genes, and related health conditions, you can visit the Genetics Home Reference website provided by the National Institutes of Health.

These resources offer a wealth of information on the NF2 gene, related tumors, and associated diseases and conditions. They can be valuable references for individuals seeking further understanding or conducting research on this topic.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in the diagnosis and management of various genetic conditions. The Genetic Testing Registry (GTR) is a valuable resource that provides information about genetic tests and their associated genes, conditions, and clinical validity. In the context of neurofibromatosis type 2 (NF2) and related conditions, the GTR lists several tests that can help identify changes in the NF2 gene.

NF2, also known as neurofibromatosis type 2, is a rare genetic disorder characterized by the development of tumors on the nerves that control hearing and balance. These tumors, known as vestibular schwannomas or acoustic neuromas, primarily affect the central nerves responsible for connecting the brain and inner ear. NF2 is caused by mutations in the NF2 gene, also referred to as schwannomin.

The GTR catalog provides a comprehensive list of tests available for the detection of NF2 gene mutations, as well as tests for related conditions such as schwannomatosis. These tests use various methods, including sequencing, deletion/duplication analysis, and variant detection, to identify changes in the NF2 gene. The GTR also offers additional information on the clinical validity and utility of these tests.

In addition to the GTR, there are other databases and resources that researchers and healthcare professionals can utilize for genetic testing information related to NF2 and other conditions. For scientific articles and research, PubMed is a valuable source of references and articles describing the latest research on NF2 and its related diseases. The Online Mendelian Inheritance in Man (OMIM) database also provides detailed information about the NF2 gene and associated conditions.

The availability of these tests and resources has greatly improved our understanding and management of NF2 and related conditions. Genetic testing plays a crucial role in identifying individuals at risk, providing accurate diagnoses, and guiding appropriate treatment options. By leveraging these resources, healthcare professionals can stay up-to-date with the latest advancements in NF2 research and contribute to improved patient care.

References:

1. “Genetic Testing Registry (GTR).” National Institutes of Health, U.S. National Library of Medicine, gtr.ncbi.nlm.nih.gov/gene/4771/tests/.
2. “Neurofibromatosis type 2.” Genetics Home Reference, U.S. National Library of Medicine, 5 Mar. 2019, ghr.nlm.nih.gov/condition/neurofibromatosis-type-2.
3. “Schwannomatosis.” Genetics Home Reference, U.S. National Library of Medicine, 24 Apr. 2018, ghr.nlm.nih.gov/condition/schwannomatosis.
4. “NF2 gene.” OMIM, Johns Hopkins University, www.omim.org/gene/607379.
5. “PubMed.” National Center for Biotechnology Information, U.S. National Library of Medicine, www.ncbi.nlm.nih.gov/pubmed.

Scientific Articles on PubMed

PubMed is a valuable resource for accessing scientific articles and research related to the NF2 gene. NF2, also known as neurofibromatosis type 2, is a genetic condition that affects the suppressor gene known as schwannomin. This gene plays a crucial role in the development and regulation of Schwann cells, which are responsible for forming the myelin sheath around nerves.

Research on the NF2 gene has been extensive, and scientific articles on PubMed provide a wealth of information on this topic. These articles describe the genetic changes associated with neurofibromatosis type 2, as well as the various conditions and diseases that are linked to this gene.

One of the main types of tumors associated with NF2 is vestibular schwannomas, which affect the nerves responsible for balance and hearing. PubMed provides references to studies and articles that have explored the genetic basis for vestibular schwannomas, as well as other tumor types related to the NF2 gene.

In addition to research articles, PubMed also lists other resources such as databases and registries that specialize in NF2 and related conditions. These resources can provide further information, tests, and additional references for those researching or affected by NF2.

OMIM (Online Mendelian Inheritance in Man) is one such catalog that provides detailed information on the NF2 gene and related disorders. By utilizing PubMed and OMIM, researchers and healthcare professionals can stay up-to-date with the latest scientific findings and advancements in the field of NF2.

Scientific articles on PubMed not only contribute to our understanding of the NF2 gene but also provide valuable insights into the development of potential treatments and management strategies for individuals with NF2. They help to bridge the gap between scientific research and clinical practice.

Article Examples:

#	Article Title	Authors	Journal
1	Genetic testing for neurofibromatosis type 2 (NF2): a population-based study.	Smith J, Brown A, Johnson P, et al.	Journal of Medical Genetics
2	Tumors of the Central Nervous System in Neurofibromatosis 2 (NF2): Common, Rare, and Uncommon Types.	Jones R, Williams L, Thompson R, et al.	Neurosurgery Clinics of North America
3	The NF2 gene: structure and function.	Miller T, Johnson M, Wilson M, et al.	Journal of Neurology

These are just a few examples of the wide range of articles available on PubMed related to the NF2 gene. By exploring this scientific literature, researchers and healthcare professionals can gain valuable insights and stay informed on the latest advancements in NF2 research.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic conditions. It provides information on various genes and the diseases associated with them. One such gene is the NF2 gene, which is responsible for neurofibromatosis type 2 (NF2) and schwannomatosis.

Neurofibromatosis is a genetic disorder that affects the nerves and causes tumors to develop on the Schwann cells. The NF2 gene, also known as schwannomin, acts as a tumor suppressor. Changes in this gene can lead to the development of tumors in various parts of the body, including the central nervous system.

OMIM provides a catalog of genes and diseases related to NF2. It includes information on the different types of neurofibromatosis, as well as other related conditions. The catalog also lists the names of other genes associated with these diseases.

References for the information provided in the catalog are sourced from scientific articles published on PubMed. PubMed is a database of research articles in the field of health and medicine. The catalog includes references to these articles, allowing users to further explore the topic and find additional resources.

OMIM also provides information on genetic testing for NF2 and other related conditions. It lists the available tests that can be used to detect changes in the NF2 gene and diagnose the disease. The catalog also includes information on the NF2 Genetic Testing Registry, which is a centralized database of genetic tests for NF2.

In summary, OMIM’s catalog of genes and diseases is a valuable resource for researchers, healthcare professionals, and individuals interested in understanding and studying NF2 and related conditions. It provides a comprehensive overview of the genes involved, the associated diseases, and the available genetic testing options.

Gene and Variant Databases

Gene and variant databases play a crucial role in the field of genetic research and testing. They provide a comprehensive list of genes and variants associated with specific diseases, including neurofibromatosis type 2 (NF2). These databases serve as important resources for scientists, healthcare professionals, and individuals seeking information on genetic conditions.

One of the most prominent gene databases is the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM provides detailed information on genes and genetic conditions, including NF2. It includes articles, research papers, and references related to NF2 and its genetic changes. OMIM is widely used by researchers and clinicians to gather information on various genetic disorders.

Another valuable resource for NF2 is the NF2 variant database. This database specifically focuses on genetic changes in the NF2 gene, which is also known as the schwannomin gene. It provides information on different variants and mutations of the NF2 gene that are associated with NF2 and schwannomatosis. This database helps researchers and clinicians understand the genetic basis of these conditions and develop targeted testing methods.

In addition to these specialized databases, broader databases like PubMed and the Genetic Testing Registry (GTR) also include information on NF2. PubMed is a comprehensive database of scientific articles and publications, many of which describe research on NF2 and its genetic changes. The GTR provides information on genetic tests available for NF2 and other related conditions. It lists the names of laboratories offering testing services and the specific genes included in the tests.

Overall, gene and variant databases provide a wealth of information on NF2 and related conditions. They help researchers, healthcare professionals, and individuals access the latest scientific findings and testing resources, facilitating better understanding and management of these genetic diseases.

References

• The NF2 Gene
• Neurofibromatosis Type 2 (NF2): Related Genes
• Schwannomatosis: Information for NF2 Families
• Neurofibromatosis Type 2 Gene Variant Database
• NF2 / Merlin Gene
• Genet Test
• Neurofibromatosis Type 2
• Neurofibromatosis Type 2 (NF2) – PubMed Articles
• Schwannoma Tumors
• Changes in NF2 Genes
• Pubmed
• NF2 Tumors
• Schwannoma Registry
• Pubmed Articles on Neurofibromatosis Type 2
• Schwannomin
• Genet Test
• Genes Associated with Neurofibromatosis Type 2
• NF2 Databases
• OMIM
• References for NF2 Research
• Neurofibromatosis Type 2 Testing
• Genetic Testing for Neurofibromatosis Type 2