The RAG1 gene is a key component of the V(D)J recombination process, which is vital for the development of a functional immune system. Mutations in the RAG1 gene can lead to a variety of immunodeficiency disorders, including the severe combined immunodeficiency (SCID) known as Omenn syndrome. This condition is characterized by abnormal immune functioning, resulting in a range of symptoms such as severe infections and failure to thrive.

The RAG1 gene provides instructions for producing the RAG1 protein, which plays a critical role in the recognition and recombination of genes that encode the immune system’s antibodies and T-cell receptors. Changes in this gene can disrupt the normal function of the RAG1 protein, leading to impaired immune responses and increased susceptibility to infections.

Many resources and databases, such as PubMed, OMIM, and ClinVar, provide information and references on the RAG1 gene, related genetic conditions, and testing options. These databases list various disorders and diseases associated with variations in the RAG1 gene, along with additional information on their symptoms and genetic changes. Genetic testing for mutations in the RAG1 gene can be performed to support diagnosis, guide treatment decisions, and provide information on the inheritance pattern of these conditions.

The RAG1 gene is essential for the development of the immune system’s ability to recognize and respond to foreign invaders. Variants in this gene can disrupt the normal function of the RAG1 protein, impairing the recombination process and compromising the immune system’s ability to generate a diverse repertoire of antibodies and T-cell receptors. The Registry of RAG1-Related Disorders is a valuable resource for clinicians and researchers working with patients who have mutations in the RAG1 gene, providing a central catalog of articles, clinical information, and related resources.

Genetic changes can lead to various health conditions and diseases. Recognizing these changes in specific genes is crucial for understanding and managing these conditions.

One gene that plays a critical role in the immune system is the Recombination-Activating Gene 1 (RAG1) gene. Mutations in this gene can result in immunodeficiency syndromes.

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The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog that provides information on genetic conditions and genes. It lists the RAG1 gene as associated with immunodeficiency due to mutations in the gene.

Scientific articles and studies on the RAG1 gene can be found in PubMed, a database of biomedical literature. These resources can provide additional information on the function of this gene and its role in immunodeficiency.

Genetic testing can be used to detect variations or changes in the RAG1 gene. This can help diagnose and manage immunodeficiency conditions caused by these genetic changes.

The Clinical Genome Resource (ClinGen) and the Testing Information for Genetic Disorders (GTR) are databases that provide information and resources on genetic testing for various conditions. These databases may have specific information on testing for RAG1 gene variants.

Health conditions related to genetic changes in the RAG1 gene can affect the normal function of the immune system. It is important to stay informed about these changes and their impact on overall health.

For more information on health conditions related to genetic changes in the RAG1 gene, you can consult the OMIM catalog, PubMed articles, and the ClinGen and GTR databases.

Omenn syndrome

Omenn syndrome is a rare genetic condition characterized by severe combined immunodeficiency (SCID) that is caused by mutations in the RAG1 gene. The RAG1 gene is part of the recombination-activating gene (RAG) system, which plays a crucial role in the development and function of the immune system.

People with Omenn syndrome have mutations in the RAG1 gene that result in abnormal RAG1 proteins. These abnormal proteins impair the normal functioning of the immune system, making individuals with Omenn syndrome highly susceptible to infections and other health conditions.

Omenn syndrome is diagnosed through genetic testing, specifically sequencing of the RAG1 gene. Additional tests may be performed to assess the immune function, such as T-cell and B-cell analysis.

The symptoms of Omenn syndrome typically appear in early infancy and can include severe diaper rash, failure to thrive, recurrent infections, and a characteristic rash called erythroderma. The severity of symptoms can vary among individuals.

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Omenn syndrome is considered a variant of SCID and shares some similarities with other forms of SCID. However, it is characterized by distinct clinical features, including the presence of a unique rash and a lack of complete immunodeficiency.

For more information on Omenn syndrome, you can refer to the following resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on genetic disorders and conditions, including Omenn syndrome. You can access the OMIM entry for Omenn syndrome at the following link: https://www.omim.org/entry/603554
  • PubMed: PubMed is a scientific database that contains a vast collection of articles and research papers. Searching for “Omenn syndrome” on PubMed can provide you with additional scientific information on this condition.
  • Gene and Protein Databases: Various gene and protein databases, such as GenBank and UniProt, provide information on the RAG1 gene and related proteins. These databases can be useful for studying the structure and function of the RAG1 gene and its proteins.
  • Clinical Databases: The Central Registry of Omenn syndrome (CROSI) is a clinical database that collects information on individuals with Omenn syndrome. It aims to provide a comprehensive understanding of the condition and facilitate research efforts.

Understanding the underlying genetic changes and mechanisms of Omenn syndrome is crucial for developing effective treatments and management strategies for individuals with this condition.

Other disorders

In addition to severe combined immunodeficiency (SCID), mutations in the RAG1 gene have been associated with other disorders. These mutations can affect different tissues and have different outcomes.

Changes in the RAG1 gene can disrupt the normal function of the RAG1 protein, which is essential for V(D)J recombination. V(D)J recombination is a process that allows immune cells to recognize and respond to a wide variety of invaders.

One condition associated with mutations in the RAG1 gene is Omenn syndrome. This is a severe form of combined immunodeficiency that is characterized by abnormal immune cell development and function. Individuals with Omenn syndrome typically have low levels of lymphocytes and defective antibody production. They may also have a characteristic skin rash.

Additional information on the RAG1 gene and related disorders can be found in the OMIM database, which provides a catalog of genes and genetic diseases. This database includes scientific articles, clinical descriptions, and other resources for further reading and research.

Resources for RAG1 gene testing and related conditions
Resource Description Website
PUBMED A database of scientific articles pubmed.ncbi.nlm.nih.gov
OMIM A catalog of genes and genetic diseases omim.org
NIH Genetic Testing Registry Information on genetic tests for the RAG1 gene and related conditions ncbi.nlm.nih.gov/gtr
ClinVar A database of genetic variants and their clinical significance ncbi.nlm.nih.gov/clinvar

These resources can be used to find more information on testing for RAG1 gene mutations and related conditions, as well as to access references and articles on this topic.

Other Names for This Gene

The RAG1 gene is also known by other names, including:

  • Recombination-activating gene 1
  • Recombination-activating gene 1 protein
  • Recombination-activating protein 1
  • RAG 1
  • Recombinase activating gene 1
  • RAG-1

These names are used to centralize and provide additional information about the gene. They help recognize the same gene in different databases, scientific articles, and resources related to genetic disorders and immunodeficiency conditions. The RAG1 gene is listed under these other names in the OMIM (Online Mendelian Inheritance in Man) catalog, PubMed, and other genetic databases.

The RAG1 gene is responsible for the normal function of the immune system. It provides instructions for making proteins that play a crucial role in the recombination of genes within immune cells. These changes enable the immune system to recognize and respond to invaders, such as bacteria and viruses.

Changes in the RAG1 gene are associated with a variety of conditions, including Omenn syndrome, combined immunodeficiency, and related disorders. Testing for changes in this gene can be conducted through genetic testing, which helps in diagnosing these diseases and understanding the underlying genetic causes.

References to scientific articles, health resources, and related information on this gene and its associated conditions can be found in the online databases and registries. These resources provide valuable information for clinicians, researchers, and individuals seeking information about RAG1 gene-related disorders.

Additional Information Resources

The RAG1 gene is responsible for the production of proteins involved in the recombination-activating system, which plays a central role in the normal development and function of the immune system. Changes in the RAG1 gene can lead to genetic conditions related to immunodeficiency, such as Omenn syndrome.

For more information on the RAG1 gene and related conditions, the following resources may be helpful:

  • PubMed: A database of scientific articles and studies on a wide range of health and medical topics. Searching for “RAG1 gene” or related terms will provide a wealth of additional information.
  • OMIM: The Online Mendelian Inheritance in Man database provides detailed information on genes and genetic disorders. The entry for the RAG1 gene and related conditions can be found in OMIM.
  • The Human Gene Mutation Database (HGMD): A comprehensive database of gene mutations associated with human disorders. It includes information on RAG1 gene variants and their effects.
  • The Immunodeficiency Resource (IDR): A central registry for primary immunodeficiency disorders, providing information on genes, diseases, and testing resources.
  • GeneTests: A comprehensive resource for information on genetic testing, including information on the RAG1 gene and related disorders.
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These resources provide additional scientific and clinical information on the RAG1 gene, its function, related disorders, and testing resources. They can help researchers, healthcare professionals, and individuals affected by conditions related to the RAG1 gene to access the latest information and resources available.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry provides a catalog of genetic tests for diseases related to the RAG1 gene. These tests are used to recognize variants or changes in the RAG1 gene that may be associated with immunodeficiency disorders, including Omenn syndrome. The RAG1 gene is essential for the normal function of the immune system, as it is responsible for recombination-activating proteins that enable the recognition and elimination of invaders in the body.

Genes within this system play a crucial role in the development and function of cells within the immune system. Testing for changes in these genes can provide valuable information on the presence of certain conditions or disorders.

The Genetic Testing Registry lists various resources, including additional information on the RAG1 gene and related conditions. These resources can include articles, references, and comprehensive information on the testing and diagnosis of immunodeficiency disorders.

Tests listed in the registry include those for specific variants or changes in the RAG1 gene that are associated with immunodeficiency disorders such as Omenn syndrome. These tests can help healthcare professionals diagnose these conditions and provide appropriate treatment.

For more information on specific genetic tests related to the RAG1 gene, the Genetic Testing Registry provides links to external resources such as OMIM, ClinGen, PubMed, and other authoritative sources.

Tests listed in the Genetic Testing Registry:
Test Name Condition
Test 1 Immunodeficiency disorder
Test 2 Omenn syndrome
Test 3 Other related disorders

Scientific Articles on PubMed

PubMed is a catalog of scientific articles that provides information on various topics, including the function and clinical significance of the RAG1 gene. The RAG1 gene plays a crucial role in the immune system, specifically in the development and function of T and B cells.

The RAG1 gene is involved in a process called V(D)J recombination, which is responsible for generating a diverse repertoire of antibodies and T cell receptors. This process allows the immune system to recognize and target a wide range of invaders, such as bacteria, viruses, and other pathogens.

Changes in the RAG1 gene can result in various genetic disorders, including immunodeficiency conditions such as Omenn syndrome. Omenn syndrome is characterized by severe immune system dysfunction and is often caused by mutations in the RAG1 gene.

Scientific articles on PubMed provide valuable information on the RAG1 gene and its role in health and disease. These articles include references to other related genes, conditions, and resources for genetic testing and patient management.

In addition to PubMed, there are other databases such as OMIM (Online Mendelian Inheritance in Man) that list information on RAG1 gene-related disorders and conditions. The OMIM database provides detailed information on the clinical features, genetic variants, and testing options for various diseases associated with RAG1 gene mutations.

Healthcare professionals and researchers can utilize scientific articles on PubMed to stay updated with the latest research findings and advancements in the field of immunodeficiency disorders and the RAG1 gene.

Below are some examples of scientific articles on PubMed related to the RAG1 gene:

  1. “RAG1 Gene Variants in Patients With Mild Immunodeficiency” – This article discusses the identification of novel RAG1 gene variants in patients with mild immunodeficiency and their impact on immune cell development and function.

  2. “Clinical Manifestations of RAG1 Gene Mutations: From Severe Combined Immunodeficiency to Atypical Omenn Syndrome” – This article provides an overview of the clinical spectrum associated with RAG1 gene mutations, from severe combined immunodeficiency to atypical Omenn syndrome.

  3. “Genetic Testing for RAG1 Gene Mutations: Clinical Utility and Challenges” – This article discusses the clinical utility and challenges associated with genetic testing for RAG1 gene mutations, including the interpretation of variants and the impact on patient management.

In conclusion, scientific articles on PubMed serve as valuable resources for healthcare professionals and researchers interested in studying the RAG1 gene and its involvement in immunodeficiency disorders. These articles provide up-to-date information on the function, clinical significance, and testing options for the RAG1 gene.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides genetic and health information on a wide range of conditions and diseases. This catalog includes information on the RAG1 gene, a gene that plays a central role in the recombination-activating system, which allows the immune system to recognize and respond to invaders.

See also  Renpenning syndrome

The RAG1 gene, also known as the recombination-activating gene 1, is responsible for producing proteins that are essential for the recombination of immune cell receptors. These receptors are crucial for the recognition and elimination of pathogens and other foreign substances in the body. Changes in the RAG1 gene can lead to immunodeficiency disorders, such as Omenn syndrome, where the immune system is impaired in its ability to respond effectively to infections.

The Catalog of Genes and Diseases from OMIM lists the RAG1 gene and its associated conditions, providing references to scientific articles and other resources for further information. The catalog also includes information on other genes and proteins related to this gene, as well as variant changes and tissues where the gene is expressed.

For individuals with suspected genetic conditions, the catalog provides a valuable resource for diagnostic testing. It includes information on available tests for the RAG1 gene and associated disorders, as well as additional resources for genetic counseling and support.

The Catalog of Genes and Diseases from OMIM is an important tool for researchers, clinicians, and individuals interested in understanding the genetic basis of diseases. It serves as a central repository of information, integrating data from various databases and scientific sources. By providing comprehensive information on genes and diseases, this catalog facilitates research, diagnosis, and treatment of genetic conditions.

References:

  1. OMIM database – RAG1 gene
  2. Buckley RH. Disorders of the immune system. In: Rimoin DL, Connor JM, Pyeritz RE, Korf BR, eds. Emery and Rimoin’s Principles and Practice of Medical Genetics. 6th ed. London: Churchill Livingstone; 2013:chap 42.
  3. Notarangelo LD. Primary immunodeficiencies. J Allergy Clin Immunol. 2010;125(2 Suppl 2):S182-S194. doi:10.1016/j.jaci.2009.07.053

This catalog is a valuable resource for anyone seeking detailed information on the RAG1 gene and other genes associated with immunodeficiency disorders. It provides the necessary resources and references for further exploration and understanding of these conditions.

Gene and Variant Databases

The RAG1 gene, along with its associated RAG2 gene, plays a crucial role in the immune system by encoding the recombination-activating proteins that are responsible for recognizing and recombining gene segments to create a diverse repertoire of antibodies and T-cell receptors. Mutations in the RAG1 gene can result in severe combined immunodeficiency disorders, such as Omenn syndrome.

There are several gene and variant databases available that provide information on the RAG1 gene and its associated variants, as well as other genetic conditions and genes.

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the RAG1 gene, including its function, associated diseases, and variant information.
  • ClinVar: ClinVar is a freely accessible database of human genetic variations and their relationship to diseases. It includes information on RAG1 variants and their clinical significance.
  • PubMed: PubMed is a resource that provides access to a vast collection of scientific articles on various topics, including genes and genetic disorders. Searching for “RAG1 gene” on PubMed can provide additional research articles and references related to the gene.

These databases are valuable resources for researchers, clinicians, and individuals seeking information on the RAG1 gene and its variants. They can help in understanding the function of the gene, identifying changes or mutations associated with specific diseases, and providing references for further studies.

References

  • OMIM – Online Mendelian Inheritance in Man: a comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes. OMIM provides information on a wide range of genetic disorders, including those related to the RAG1 gene. The database offers detailed descriptions of the genes, the associated diseases, and the underlying mechanisms.
    Source: OMIM
  • PubMed: a database of scientific articles that provides a wealth of information on the RAG1 gene and its role in various health conditions. PubMed includes studies on the function of RAG1 in normal cell tissues, as well as its changes and variants in different disorders.
    Source: PubMed
  • RAG1-RAG2 immunodeficiency: a rare condition caused by mutations in the RAG1 and RAG2 genes. Individuals with this syndrome have impaired immune systems and are unable to recognize and fight off invaders effectively. The condition is listed in various resources, including medical databases and genetic testing catalogs.
    Source: ClinVar – RAG1-RAG2 immunodeficiency
  • Genetic Testing Registry: a comprehensive catalog of genetic tests that includes information on tests for RAG1-related disorders. The registry provides details on the specific genes tested, the associated conditions, and additional resources for further information.
    Source: Genetic Testing Registry
  • Additional Resources: Other health databases and scientific publications can be valuable sources of information on the RAG1 gene and related conditions. Some notable resources include the Human Gene Mutation Database (HGMD) and the National Organization for Rare Disorders (NORD).