The BIN1 gene, also known as the Bridging Integrator 1 gene, is a gene that plays a crucial role in the health and functioning of muscles. Mutations in this gene have been found to be linked to various genetic conditions, including centronuclear myopathy.

The BIN1 gene provides instructions for producing a protein that is involved in the formation of muscle cells. This protein is essential for the proper organization and functioning of muscles. When there are changes or mutations in the BIN1 gene, it can lead to muscle-related disorders.

Research and scientific studies have shown that mutations in the BIN1 gene can cause different forms of centronuclear myopathy, a group of muscle disorders characterized by muscle weakness and associated symptoms. The OMIM database, a catalog of human genes and genetic disorders, lists the BIN1 gene as a causative gene for centronuclear myopathy.

In addition to centronuclear myopathy, the BIN1 gene has also been linked to other genetic myopathies and related conditions. For example, studies have found that mutations in the BIN1 gene can contribute to the development of certain types of muscular dystrophy-like diseases. Further research and testing are required to understand the full extent of the BIN1 gene’s involvement in these conditions.

For individuals with suspected genetic myopathy or related muscle disorders, genetic testing for the BIN1 gene may be recommended. This testing can help confirm a diagnosis and provide additional information for better understanding the specific subtypes and variants associated with the condition. Resources such as the OMIM and PubMed databases offer scientific articles, research papers, and citations related to the BIN1 gene and its role in various muscle disorders. Genetic testing can be arranged through specialized laboratories and genetic testing centers, including those listed in the Registry of Genes and Genetic Testing Laboratories.

“The discovery and understanding of the BIN1 gene have contributed significantly to the knowledge and diagnosis of centronuclear myopathy and related disorders. Ongoing research and testing are vital in uncovering further insights into the role of this gene and its potential therapeutic targets,” said Dr. Romero, a leading expert in muscle diseases.

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Genetic changes in the BIN1 gene can cause different health conditions. Testing for genetic variants in this gene is available through various resources, including scientific databases and genetic testing laboratories.

  • One of the health conditions associated with genetic changes in the BIN1 gene is centronuclear myopathy. This is a rare genetic disorder that affects the muscles and can lead to muscle weakness and other related symptoms.
  • Information on genetic changes in the BIN1 gene and their association with centronuclear myopathy can be found in scientific articles, as well as databases such as the Online Mendelian Inheritance in Man (OMIM) and PubMed.
  • In addition to centronuclear myopathy, genetic changes in the BIN1 gene may also be associated with other muscle diseases and myopathies.
  • The Genetic Testing Registry (GTR) is a useful resource for finding information on available genetic tests for the BIN1 gene and associated health conditions.
  • Other resources, such as PubMed and OMIM, provide additional references and scientific articles related to genetic changes in the BIN1 gene and their impact on health.
  • It is important to consult a healthcare professional for more information and to determine the appropriate genetic tests and resources for investigating genetic changes in the BIN1 gene.

Overall, understanding the genetic changes in the BIN1 gene and their relationship to various health conditions is crucial for accurate diagnosis and appropriate management of these conditions.

Centronuclear myopathy

Centronuclear myopathy is a genetic muscle disorder. It is characterized by muscles with a high number of centrally located nuclei.

The BIN1 gene is one of the genes known to be associated with centronuclear myopathy. Mutations in the BIN1 gene can cause this condition. The BIN1 gene provides instructions for making a protein that is involved in the organization and maintenance of muscle cells. Changes in the BIN1 gene can disrupt the normal function of muscle cells, leading to the features of centronuclear myopathy.

See also  IDS gene

There are different resources available for finding additional information on centronuclear myopathy and the BIN1 gene. One of the most commonly used resources is PubMed, a database of scientific articles. Searching for “centronuclear myopathy” or “BIN1 gene” on PubMed can provide a list of relevant articles and references.

Another resource for information on centronuclear myopathy is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides information on genetic conditions and genes. It includes a catalog of genes associated with centronuclear myopathy, as well as references and other related information.

A registry called the Genetic Testing Registry (GTR) is also available for finding information on genetic testing options for centronuclear myopathy and other related diseases. The GTR provides information on available tests, test names, and laboratories offering the tests.

In summary, centronuclear myopathy is a genetic myopathy with features such as centrally located nuclei in muscle cells. The BIN1 gene is one of the genes known to cause this condition. Resources like PubMed, OMIM, and the Genetic Testing Registry can provide additional information on centronuclear myopathy and the role of the BIN1 gene.

Other Names for This Gene

  • Gene ID: BIN1
  • Other Related Names:
    • Bridge-Inducer of BIN1
    • Amphiphysin-2
    • Amphiphysin II
    • BNIP-2
    • SH3 domain-containing protein 9
  • OMIM ID: 601248
  • Other Related Genes:
    • Centronuclear Myopathy and Charcot-Marie-Tooth Disease-Associated BIN1
  • Additional Genetic Information:
    • Genetic Testing Registry (GTR)
    • Catalog of Genes and Diseases (OMIM)
    • PubMed
  • Publications about BIN1 gene:
    • Scientific articles listed in PubMed
    • Citations in scientific articles
  • Other Gene Resources:
    • Centronuclear Myopathy Genetic Testing Registry (CNM GTR)
    • PubMed Health
    • Related genes and diseases in OMIM
    • References to BIN1 gene in scientific articles
  • Other Names for BIN1 gene:
    • Myopathy
    • Myopathies
    • Diseases related to BIN1 gene
  • Tests for BIN1 gene:
    • Genetic testing for centronuclear myopathy

Resources Description
Gene ID Unique identification number for the BIN1 gene
Other Related Names Additional names used to refer to the BIN1 gene
OMIM ID Identification number for the BIN1 gene in Online Mendelian Inheritance in Man (OMIM) database
Other Related Genes Genes associated with centronuclear myopathy and Charcot-Marie-Tooth disease
Additional Genetic Information Access to genetic testing and information about BIN1 gene in various genetic databases
Publications about BIN1 gene List of scientific articles and citations related to the BIN1 gene
Other Gene Resources Other databases and resources containing information about the BIN1 gene
Other Names for BIN1 gene Various names used to describe diseases and conditions related to the BIN1 gene
Tests for BIN1 gene Genetic tests available for centronuclear myopathy

Additional Information Resources

If you are interested in learning more about the BIN1 gene and its role in health, there are several scientific resources available to you. These resources provide valuable information relating to the gene, its related conditions, and other genetically related diseases.

  • The BIN1 Gene Registry: The BIN1 Gene Registry is a comprehensive registry for individuals with changes in the BIN1 gene. This registry collects data from individuals with different related conditions and provides information on genetic testing, diseases caused by changes in the gene, and other resources.
  • PubMed Articles: PubMed is a database that provides access to a wide range of scientific articles. You can search for articles that specifically relate to the BIN1 gene and its associated conditions. This is a great resource if you are looking for in-depth scientific information.
  • OMIM: OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of human genes and genetic disorders. You can find information on the BIN1 gene, as well as related conditions and diseases, in this database.
  • Citation: Romero NB. Centronuclear myopathies: a widening concept. Neuromuscul Disord. 2010;20(4):223-228. doi:10.1016/j.nmd.2010.02.004

These are just a few examples of the additional resources available to you. By exploring these databases and publications, you can access more information on the BIN1 gene and its role in various health conditions.

Tests Listed in the Genetic Testing Registry

Various tests are available to evaluate the BIN1 gene and its related variants. These tests can help identify whether a person carries the gene or variant associated with certain conditions.

See also  LEP gene

In the Genetic Testing Registry, you can find information on tests related to the BIN1 gene, centronuclear myopathy, and other related diseases. The registry lists tests that have been registered by different testing laboratories and provides information on the specific genes and variants they cover.

The Genetic Testing Registry is a valuable resource for researchers, healthcare providers, and individuals who want to learn more about genetic testing for BIN1 gene-related conditions. It provides a comprehensive catalog of available tests, including information on the genes, variants, and associated clinical conditions.

By accessing the Genetic Testing Registry, you can find specific details about each listed test, such as its purpose, methodology, and indications. This information can help healthcare professionals and individuals better understand the tests and their potential benefits.

In addition to the Genetic Testing Registry, there are other scientific databases and resources available to gather more information about the BIN1 gene and related conditions. These resources include PubMed, OMIM, and other scientific articles and databases.

It is important to note that the Genetic Testing Registry is an evolving resource, and the listed tests may change over time. As new research and discoveries are made, the information in the registry may be updated to reflect these changes.

Further research and testing are ongoing to explore the relationship between the BIN1 gene and various myopathies and other related conditions. Therefore, staying informed about the latest scientific findings and developments is essential for accurate diagnosis and treatment.

  • PubMed
  • OMIM
  • Genetic Testing Registry – Available at:

    https://www.ncbi.nlm.nih.gov/gtr/

  • References and Resources:

    Scientific Articles on PubMed

    Scientific research has shown that changes in the BIN1 gene can cause various diseases, including centronuclear myopathy. There are resources available on PubMed for researchers and healthcare professionals to access information on this gene and its role in the development of muscle-related conditions.

    PubMed is a database of scientific articles and references, where researchers can find valuable information on different genes, genetic variants, and their association with various diseases. This platform serves as a central registry for scientific articles related to genetics and health.

    In the case of the BIN1 gene, PubMed lists numerous articles discussing its role in different conditions, including myopathies. Researchers can access these articles to gain a better understanding of the gene’s function and its impact on muscle-related diseases.

    One of the databases available on PubMed is OMIM (Online Mendelian Inheritance in Man), which catalogs genetic information and provides detailed descriptions of genes, genetic variants, and associated diseases. OMIM provides a comprehensive resource for researchers studying the BIN1 gene and its implications in myopathies.

    Furthermore, PubMed also offers additional resources such as related articles and citations, allowing researchers to explore further studies and references related to the BIN1 gene. This feature helps in building a broader understanding of the gene’s significance and its association with various diseases.

    Healthcare professionals and researchers can utilize the information available on PubMed to conduct genetic testing, identify rare genetic variants, and investigate their potential contribution to muscle-related diseases. The research conducted on the BIN1 gene and its associated conditions can potentially lead to advancements in diagnosis, treatment, and management of these diseases.

    In conclusion, PubMed serves as a valuable resource for scientists and healthcare professionals to access scientific articles, references, and databases related to the BIN1 gene and its role in different diseases, including myopathies. This information enables researchers to delve deeper into the understanding of the gene’s function and its implications in muscle-related conditions.

    Catalog of Genes and Diseases from OMIM

    The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on the genetic causes of various diseases and conditions. It serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic conditions.

    OMIM contains a vast collection of scientific articles, references, and resources related to genes and diseases. Through this catalog, users can access information on a wide range of genes and their associated diseases. It includes data on the BIN1 gene, its different variants, and the diseases it is known to cause.

    The BIN1 gene is associated with centronuclear myopathies, a group of genetic muscle disorders. Mutations in this gene can lead to various forms of centronuclear myopathy, which are characterized by abnormal muscle fiber nuclei positioning. These conditions can cause muscle weakness, respiratory difficulties, and other muscle-related symptoms.

    See also  Coffin-Lowry syndrome

    The catalog lists the BIN1 gene and provides additional information on its various variants and their associated diseases. It also includes scientific articles and references for further research and information.

    Individuals seeking genetic testing for centronuclear myopathies or other related conditions can use the catalog to find information on available tests. It provides details on the different testing options and laboratories that offer these services.

    The catalog also serves as a registry for genetic conditions, allowing individuals to search for specific diseases and their associated genes. It provides a comprehensive overview of the genetic changes and associated diseases, and offers links to additional resources and information.

    For researchers and healthcare professionals, the catalog is a valuable tool for accessing scientific articles, references, and databases. It allows them to stay updated on the latest research and discoveries related to genes and diseases.

    In conclusion, the Catalog of Genes and Diseases from OMIM is a comprehensive resource for information on genetic conditions. It provides a wealth of information on genes, diseases, testing options, and scientific articles. Researchers, healthcare professionals, and individuals seeking information on genetic conditions can benefit from accessing this catalog.

    Gene and Variant Databases

    When researching the BIN1 gene and its related variants, there are several databases that provide valuable information on genetic testing, changes, and citations. These databases serve as comprehensive resources for clinicians, researchers, and individuals seeking information on the gene and its variants.

    • Centronuclear Myopathy Gene Variant Database (CNMD)
    • ROMERO Gene Variant Database
    • Genetic Testing Registry (GTR)
    • OMIM (Online Mendelian Inheritance in Man)

    These databases provide details on the various changes in the BIN1 gene that have been reported, along with information on the associated health conditions and diseases they may cause. They also offer references and citations to scientific articles and additional resources for further exploration.

    The Centronuclear Myopathy Gene Variant Database (CNMD) and ROMERO Gene Variant Database specifically focus on variants of the BIN1 gene that are related to centronuclear myopathy. They catalog the specific gene changes and list the associated muscle conditions and other diseases they may cause. These databases also provide information on genetic testing options for these variants.

    The Genetic Testing Registry (GTR) is a centralized resource that provides information on genetic tests available for a wide range of genes, including BIN1. It offers details on the specific tests, labs that offer them, and available clinical validity and utility evidence.

    OMIM, also known as Online Mendelian Inheritance in Man, is a comprehensive catalog of genes, genetic disorders, and traits reported in the scientific literature. BIN1 and its variants are listed in OMIM, with detailed information on the gene structure, function, associated diseases, and related publications.

    When conducting research on the BIN1 gene and its variants, these databases provide essential information that can aid in understanding the genetic basis of centronuclear myopathy and other related myopathies. References and citations to scientific articles and additional resources for further exploration are available in these databases, including PubMed articles and references.

    References

    The following are references on the BIN1 gene and related topics:

    • PubMed: A database of scientific articles on various topics, including genes. You can find a list of articles on the BIN1 gene at PubMed.

    • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on genes, diseases, and genetic conditions. You can find information on the BIN1 gene and related diseases at OMIM.

    • GeneTests: A resource for information on genetic testing. You can find information on BIN1 gene testing at GeneTests.

    • Centronuclear myopathies (CNMs): The Huppke-Brendel Lab provides a catalog of genes associated with centronuclear myopathies, including BIN1. You can find more information at Centronuclear Myopathies catalog.

    • PubMed Health: A repository of health-related information. You can find related articles on the BIN1 gene at PubMed Health.

    • Citation: If you need to cite information on the BIN1 gene in a scientific article or publication, you can use the following citation:

      [Author’s Name], “[Title of the Article],” [Journal Name], [Volume], [Issue], [Year], pp. [Page Numbers].

    • Variant databases: There are other variant databases that include information on the BIN1 gene and associated conditions. Examples include dbSNP and ExAC.

    Please note that the above references are not exhaustive and there may be additional resources available for exploring the BIN1 gene and its various aspects.