NEB gene – Austra Health

The NEB gene, also known as nemaline myopathy 2 (nem2), is a gene that plays a crucial role in muscle function. It is responsible for the production of a protein called nebulin, which is essential for the proper functioning of sarcomeres, the basic units of muscle contraction.

Changes or mutations in the NEB gene can lead to a variety of health conditions, including nemaline myopathy and other related muscle diseases. These conditions are characterized by muscle weakness, decreased muscle tone, and delayed muscle development.

The NEB gene is listed in the Online Mendelian Inheritance in Man (OMIM) registry, a comprehensive catalog of genetic information on human health conditions. It is one of the many genes associated with myopathy, a broad term used to describe muscle diseases.

For additional scientific resources on the NEB gene and related health conditions, researchers and healthcare professionals can consult various databases and articles, including PubMed. These resources provide valuable information, references, and testing options for the diagnosis and management of this myopathy.

In conclusion, the NEB gene is a critical gene involved in muscle function, and changes in this gene can lead to various muscle diseases. Researchers and healthcare professionals can access additional scientific resources to further understand and diagnose these conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the NEB gene can lead to various health conditions, particularly related to muscle disorders. The NEB gene provides instructions for making a protein called nebulin, which is found in the skeletal muscle fibers.

Here, we provide a catalog of health conditions that can arise from genetic changes in the NEB gene:

Nemaline myopathy (NEM2): Also known as nemaline rod myopathy, this condition is characterized by muscle weakness and a specific abnormality called nemaline rods. It is caused by mutations in the NEB gene and can range from mild to severe forms.
Nebulin variant myopathy: This is a rare form of myopathy caused by specific variants in the NEB gene. It is characterized by muscle weakness, particularly in the limbs, and can lead to respiratory and feeding difficulties.

Additional health conditions related to genetic changes in the NEB gene may exist. It is important to consult scientific articles, databases, and genetic testing resources for more information on the specific conditions and their associated variants.

Some useful resources for exploring health conditions related to changes in the NEB gene include:

Online Mendelian Inheritance in Man (OMIM): A comprehensive database of genes and genetic conditions, including information on NEB-related diseases.
PUBMED: A database of scientific articles, where one can find studies and references related to NEB gene changes and associated health conditions.
Genetic testing databases: Such as the Genetic Testing Registry, which can provide information on available tests for NEB gene changes and related conditions.

It is important to note that changes in genes other than NEB can also contribute to muscle disorders and related health conditions. Therefore, comprehensive genetic testing and evaluation may be necessary to fully understand the underlying causes of these diseases.

Nemaline myopathy

Nemaline myopathy is one of the diseases that affect the muscles. It is an additional disease.

Nemaline myopathy is listed in the catalog of related genes on PubMed. It is one of the conditions that the myopathy registry of health and scientific resources tests for.

This disease is caused by changes in the nebulin gene. The nebulin gene is responsible for the production of nebulin protein, which is important for the structure and function of sarcomeres.

Several variants of the nebulin gene have been identified in individuals with nemaline myopathy. Some of the variant names include nem2, nebulin, and others.

Additional information on nemaline myopathy can be found in articles from PubMed and other genetic databases. References to these resources can provide more insight into the disease and its genetic basis.

References
1. PubMed	https://pubmed.ncbi.nlm.nih.gov
2. Online Mendelian Inheritance in Man (OMIM)	https://www.omim.org/
3. Myopathy Registry	https://myopathyregistry.org

Other Names for This Gene

Nemaline rod body disease, MYOPATHY, NEBULIN
SABINO, the
Scientific name of this gene: Nebulin
OMIM gene name: NEB
OMIM diseases caused by mutations in this gene: NEM2, Myopathy, Nemaline
Additional information on NEB gene, including related diseases and genetic changes: check databases such as PubMed, Pubmed Central, and Online Mendelian Inheritance in Man (OMIM)
Other genetic resources and tests related to this gene: Nebulin catalog, Sarcomeres catalog, Nebulin testing, Nemaline Myopathy Registry
For more references, articles, and information on other names for this gene: refer to the resources mentioned above

Additional Information Resources

For additional information on NEB gene and related variants, references, and resources, the following resources can be helpful:

Names and Tests: Muscles of nemaline, sarcomeres, and other related tests.
Additional Articles on Testing: PubMed-listed articles on genetic testing related to NEB gene.
Genetic Disease Registries: Information and resources on diseases and conditions related to NEB gene, such as Nemaline Myopathy.
Scientific Databases:

PubMed: A comprehensive catalog of scientific articles.
OMIM: A database of human genes and genetic disorders.
Other Genetic Databases: Databases providing information on NEB gene and related changes.

For further information on NEB gene, NEB variants, and Nemaline Myopathy, consult these additional resources.

Tests Listed in the Genetic Testing Registry

Genetic testing is a vital tool for understanding and diagnosing various genetic conditions. The Genetic Testing Registry (GTR) provides a comprehensive catalog of genetic tests for different genes, including NEB gene testing.

The NEB gene, also known as the nebulin gene, plays a crucial role in the structure and function of sarcomeres, which are the basic units of muscles. Mutations in this gene can lead to nemaline myopathy and other related muscle diseases.

The GTR lists several tests related to the NEB gene, which are used to diagnose and understand these conditions. These tests are categorized based on the specific changes or variants in the NEB gene that they target.

Here are some of the tests listed in the Genetic Testing Registry:

NEM2 (Nemaline Myopathy Type 2) Variant Test: This test is used to detect specific variants in the NEB gene that are associated with Nemaline Myopathy Type 2.
NEB-Related Myopathy Comprehensive Test: This comprehensive test examines various changes and variants in the NEB gene to provide a comprehensive analysis of NEB-related myopathy.

Additional tests listed in the registry target specific regions or exons of the NEB gene, providing further insight into disease-causing mutations and variants.

In addition to the GTR, there are other resources available to gather information on NEB gene testing. Scientific databases like PubMed and OMIM offer articles and references related to NEB gene mutations and their implications on health.

Overall, the Genetic Testing Registry serves as a valuable resource for researchers, healthcare providers, and individuals seeking information on the NEB gene and associated muscle diseases. It provides a centralized platform to access information about various tests, their purpose, and the genes they target.

Scientific Articles on PubMed

Here is a list of scientific articles related to the NEB gene and its association with myopathy and nemaline conditions. These articles provide valuable information about the genetic changes and variants in the NEB gene, as well as their role in the development of these diseases.

PubMed

PubMed is a widely used database for scientific publications in the field of health and biomedical research. It provides researchers with access to a vast catalog of articles from various journals and research publications. The following articles can be found on PubMed:

“Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy Natural History Study”. This article provides an overview of nemaline myopathy, including its classification, clinical features, and genetic basis. It also discusses the current understanding of nemaline myopathy and highlights the importance of further research.
“Nemaline myopathy: a clinical update”. This article reviews the current knowledge on nemaline myopathy, including its clinical presentation, diagnosis, and management. It also discusses recent advances in the understanding of the disease and the potential for targeted therapies.
“Nebulin variants in human diseases”. This article focuses on the NEB gene and its association with various diseases, including nemaline myopathy and other muscle-related conditions. It provides a comprehensive overview of the genetic changes in the NEB gene and their impact on muscle function.

Additional Resources

In addition to PubMed, there are other databases and resources available for further information on the NEB gene and related conditions:

OMIM (Online Mendelian Inheritance in Man): OMIM provides a comprehensive catalog of genetic disorders and their associated genes. It includes information on nemaline myopathy and the NEB gene, as well as links to relevant scientific articles and resources.
The Nemaline Myopathy Registry: The Nemaline Myopathy Registry is a database that collects clinical and genetic information from individuals with nemaline myopathy. It serves as a valuable resource for researchers and healthcare professionals interested in studying the condition.
Genetic testing: Genetic testing can be performed to identify mutations or variants in the NEB gene that are associated with nemaline myopathy. Several laboratories offer genetic testing services specifically geared towards myopathy and related conditions.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides comprehensive information on genetic changes, diseases, and conditions associated with the NEB gene, also known as nebulin. This gene is primarily involved in the formation of sarcomeres in skeletal muscles.

The NEB gene is listed in the OMIM database, which is a comprehensive registry of human genes and genetic conditions. The database includes information on various diseases and conditions, including nemaline myopathy 2 (NEM2), a genetic disorder characterized by muscle weakness and abnormalities in muscle fibers called nemaline bodies.

The OMIM database provides detailed information on the NEB gene, including variant names and changes associated with different genetic conditions. It also includes references to scientific articles and other resources, such as PubMed, where additional information and articles related to the NEB gene and associated diseases can be found.

For individuals interested in genetic testing for nemaline myopathy and other conditions related to the NEB gene, the OMIM database serves as a valuable resource. It provides information on available testing options and laboratories that offer genetic testing for these conditions.

Overall, the Catalog of Genes and Diseases from OMIM is an important resource for researchers, healthcare professionals, and individuals interested in the NEB gene and its role in various genetic conditions, particularly nemaline myopathy.

OMIM database
PubMed
Additional scientific articles and resources listed in the OMIM database

Gene and Variant Databases

Gene and variant databases are comprehensive resources providing information on genes, variants, and their associated diseases or conditions. These databases serve as valuable tools for researchers, geneticists, and healthcare professionals in understanding the genetic basis of various health conditions.

One of the most well-known gene and variant databases is OMIM (Online Mendelian Inheritance in Man). OMIM catalogues information on genes, genetic changes, and phenotypic characteristics associated with inherited disorders. This database helps researchers and healthcare professionals identify relevant genes and variants implicated in different diseases.

In addition to OMIM, there are other gene and variant databases available for researchers and healthcare professionals. These databases include gene-specific databases such as NEB Gene on PubMed, which focuses on the nebulin gene and its variants associated with nemaline myopathy. Other databases, like GeneTests and the Genetic Testing Registry, provide information on genetic tests available for various diseases and conditions.

Gene and variant databases often provide not only information on specific genes and variants but also scientific articles and references related to these genes. Researchers can access articles published in scientific journals through resources like PubMed, which contains a vast collection of scientific literature.

Some gene and variant databases also list additional resources related to specific diseases or conditions. These resources can include patient registries, health information websites, and support groups for individuals and families affected by genetic conditions.

By harnessing these gene and variant databases, researchers and healthcare professionals can gain valuable insights into the genetic basis of diseases, discover new associations, and improve genetic testing practices.

Gene and Variant Databases
OMIM
NEB Gene on PubMed
GeneTests
Genetic Testing Registry
PubMed

OMIM provides information on genes and genetic changes associated with inherited disorders.
NEB Gene on PubMed focuses on the nebulin gene and its variants associated with nemaline myopathy.
GeneTests provides information on genetic tests available for various diseases and conditions.
Genetic Testing Registry catalogues information on genetic testing practices.
PubMed is a resource for accessing scientific articles and references related to genes and variants.

References

OMIM: The Online Mendelian Inheritance in Man. NEB gene. Available at: https://www.omim.org/entry/161650
PubMed: A database of scientific articles. NEB gene. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=NEB+gene
GeneCards: The Human Gene Database. NEB gene. Available at: https://www.genecards.org/cgi-bin/carddisp.pl?gene=NEB
Nemaline Myopathy Registry: Nemaline myopathy gene catalog and registry. Available at: http://www.nemalineresource.org/
Genetic Testing Registry: NEB gene, Nemaline myopathy. Available at: https://www.ncbi.nlm.nih.gov/gtr/genes/9359/
Myopathy Support: Information on nemaline myopathy and other genetic muscle diseases. Available at: http://www.myopathysupport.com/
Nemaline.org: Resources for patients and families affected by nemaline myopathy. Available at: http://www.nemaline.org/

Please note that the references listed above are for additional information and resources related to the NEB gene and nemaline myopathy. For more specific information on testing, changes in the gene, variant names, and other scientific articles, it is recommended to consult the respective databases and scientific publications.