TBX1 gene – Austra Health

TBX1 is a genetic gene that is involved in the development of various conditions and diseases. It is also known by other names such as T-box 1 gene and 22q11.21 deletion syndrome. The gene is listed in various genetic databases and resources, including OMIM and Genet Test Registry.

Researchers have identified that changes in the TBX1 gene can lead to a variety of features and symptoms, particularly related to heart and other organ development. These changes can result in conditions such as 22q11.21 deletion syndrome, which is characterized by a deletion of genetic material in chromosome 22. Additional articles and references on TBX1 and related genes can be found in scientific databases like PubMed.

Testing for changes in the TBX1 gene and related genes is available through various genetic testing laboratories. These tests can provide information about the presence of deletions or variants in the gene, which can help in the diagnosis and management of associated conditions. Health professionals can also use these tests to assess the risk of developing certain diseases, as well as to inform genetic counseling and treatment options.

In conclusion, the TBX1 gene plays a crucial role in the development of various conditions and diseases. It is listed in genetic databases and can be tested for changes through genetic testing laboratories. Researchers continue to explore the functions of this gene and its related proteins, with the aim of improving our understanding of its role in normal development and disease processes.

Health Conditions Related to Genetic Changes

The TBX1 gene is associated with various health conditions and genetic changes. These diseases are often caused by mutations or deletions in the TBX1 gene located on chromosome 22q11.2. Several tests and genetic studies have been conducted to identify these changes and provide better understanding of the associated syndromes.

The deletion of the TBX1 gene is one of the major genetic changes associated with health conditions. Tests and studies have shown that the loss of this gene results in the 22q11.2 deletion syndrome, also known as DiGeorge syndrome or velocardiofacial syndrome (VCFS). This syndrome affects several body systems and can cause a wide range of symptoms and health problems.

Researchers have conducted additional tests and studies to identify other genetic changes related to the TBX1 gene. These studies have helped in cataloging various genetic variants and changes associated with health conditions. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are valuable resources that provide information on these genetic changes and associated health conditions.

The TBX1 gene is a part of the T-box family of proteins that play a crucial role in embryonic development. Genetic testing for variants in this gene and other related genes can help in diagnosing and managing health conditions associated with these genetic changes.

Healthcare professionals and researchers can use the resources and information listed in databases such as PubMed and OMIM to stay updated on the latest research findings and understand the implications of these genetic changes. The Genetic Testing Registry is another valuable resource that provides information on available tests for these genetic changes.

Health conditions related to genetic changes in the TBX1 gene can impact various body systems, with significant effects on normal heart features. These genetic changes may result in cardiac abnormalities and other health problems. It is important to stay informed about the latest research, diagnostic tests, and treatment options related to these genetic changes for better management of affected individuals.

22q112 deletion syndrome

22q112 deletion syndrome, also known as DiGeorge syndrome or velocardiofacial syndrome, is a genetic disorder caused by a deletion of a small piece of chromosome 22 in the q112 region. This deletion affects a gene called TBX1, which plays a critical role in the development of various organs and structures in the body.

The syndrome is characterized by a wide range of features and can vary greatly in severity. The most common features include congenital heart defects, cleft palate or other changes in the structure of the palate, and distinctive facial features. However, individuals with 22q112 deletion syndrome may also experience changes in other organ systems and may be at an increased risk for various medical conditions.

Researchers have identified many conditions that are commonly associated with 22q112 deletion syndrome. These conditions are listed in various databases such as OMIM (Online Mendelian Inheritance in Man) and can provide valuable information for genetic testing and diagnosis. Additionally, the deletion of the TBX1 gene has been implicated in other genetic conditions and is the focus of ongoing scientific research.

Genetic testing is available to confirm a diagnosis of 22q112 deletion syndrome. These tests can detect deletions in the chromosome 22q112 region and provide additional information about the specific variant of the deletion. The Genetic Testing Registry and various resources such as PubMed and OMIM provide references to current articles and scientific literature on testing for this syndrome.

It is important to note that not all individuals with 22q112 deletion syndrome will exhibit the same features or experience the same medical conditions. The syndrome is highly variable, and the severity of the symptoms can range from mild to severe. Regular medical evaluations and screenings are recommended to monitor the health of individuals with this syndrome.

References:

PubMed: 22q112 deletion syndrome
Genetic Testing Registry: 22q112 deletion syndrome
OMIM: 22q112 deletion syndrome

Other Names for This Gene

This gene is also known by several other names:

TBX1 gene
DiGeorge syndrome critical region gene 8
CATCH22
Cleft palate, heart defect, and learning disability syndrome
T-box transcription factor 1

Tests and additional information about this gene can be found in various databases. Some of the databases that contain information about this gene include:

Genetests
PubMed
OMIM (Online Mendelian Inheritance in Man)
Scientific articles related to TBX1

Changes in this gene, such as deletions or variant genes, can cause a variety of conditions listed in the OMIM gene registry. Testing for these gene changes can be done through genetic testing.

Researchers have identified the TBX1 gene on chromosome 22q11.2 as a key gene involved in the development of the heart and related diseases.

Proteins encoded by the TBX1 gene are transcription factors belonging to the T-box family. These proteins play a crucial role in the regulation of gene expression during embryonic development.

For more information about this gene and related resources, please refer to the references provided below:

Genetests: TBX1
PubMed: TBX1 gene
OMIM: TBX1 gene

Additional Information Resources

For additional information on the TBX1 gene and related conditions, the following resources can be useful:

PubMed – A database of scientific articles from researchers around the world. It provides a wealth of information on genetic changes, testing, and other related topics. You can search for “TBX1 gene” or “22q11.2 deletion syndrome” to find relevant articles.
OMIM (Online Mendelian Inheritance in Man) – A comprehensive catalog of genes, genetic conditions, and the associated features. It provides detailed information on the TBX1 gene and its role in various diseases and disorders.
Registry of Genes and Genetic Conditions – A database that lists genes and genetic conditions along with their names, changes, and related information. You can find information on the TBX1 gene and its variants in this registry.
Heart Conditions – The TBX1 gene is known to be associated with congenital heart defects. You can find more information on heart conditions related to this gene in resources and articles specifically focused on heart health.

These resources can provide you with additional information, references, and testing options for the TBX1 gene and related conditions. It is important to consult with healthcare professionals and genetic experts for accurate diagnosis and management of any genetic condition.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a curated catalog of genetic tests and their related information. It provides a central hub for researchers, healthcare professionals, and individuals seeking information on genetic testing options.

The GTR lists a variety of heart-related tests that are currently available. These tests are specifically related to the TBX1 gene. The TBX1 gene, also known as the T-box transcription factor 1 gene, is located on chromosome 22q11.2 and plays a crucial role in the development of various organs and tissues, including the heart.

These tests can help identify genetic variants or changes in the TBX1 gene that may be associated with certain diseases or conditions. Some of the features and syndromes linked to TBX1 gene mutations include:

22q11.2 Deletion Syndrome
Heart defects
Additional features associated with 22q11.2 deletions

In addition to the GTR, there are other resources available for researchers and healthcare professionals looking for more information on the TBX1 gene and related conditions. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic disorders and associated genes. PubMed is another valuable resource that contains scientific articles and research papers on the TBX1 gene and its role in various diseases.

Genetic testing, specifically for changes in the TBX1 gene, can play a crucial role in diagnosing and managing certain health conditions. By identifying genetic variants or mutations, healthcare professionals can provide targeted care and support to individuals with these conditions.

Scientific Articles on PubMed

PubMed is a database that provides access to numerous scientific articles related to the TBX1 gene and its associated conditions. Researchers and healthcare professionals can find valuable information about genetic changes, deletion syndromes, normal genetic variants, and other related topics. The following is a list of resources available on PubMed:

Articles: PubMed contains a vast collection of articles that cover various aspects of the TBX1 gene, its functions, and its role in health and disease.
Names: The TBX1 gene is also known as the T-box transcription factor 1 gene.
22q112 Deletions: This term refers to the deletion of a portion of chromosome 22 in the q11.2 region, where the TBX1 gene is located.
T-box Genes: The TBX1 gene belongs to the T-box gene family, which plays critical roles in embryonic development and organ formation.
Related Diseases: Deletions or changes in the TBX1 gene are associated with several conditions, including 22q11.2 deletion syndrome.
OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. The TBX1 gene and related conditions are listed in OMIM.
Heart Features: TBX1 gene mutations can result in heart defects and other cardiac abnormalities.
Genetic Testing: Researchers and healthcare professionals can explore the latest advancements in genetic testing for the TBX1 gene and related genetic diseases.
Chromosomal Changes: Chromosomal abnormalities, particularly deletions in the q11.2 region of chromosome 22, are associated with TBX1 gene-related conditions.
Curr Genet: Curr Genet is a scientific journal that publishes research on genetics. It may contain articles related to the TBX1 gene and its functions.
Additional Resources: PubMed provides access to additional resources that can assist researchers and healthcare professionals in studying the TBX1 gene and related disorders.
Registry and Catalog: There are registries and catalogs that compile information about 22q11.2 deletion syndrome and related conditions for research and clinical purposes.
PubMed Databases: PubMed offers various databases that contain valuable information about genetic variants, proteins, and other related topics.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive genetic database that provides information on genes and genetic disorders. This catalog serves as a valuable resource for researchers, healthcare professionals, and individuals interested in understanding the relationship between genes and diseases.

The catalog includes information on various genes and diseases, including the TBX1 gene. TBX1 is a gene located on chromosome 22q11.2 and is associated with specific features and health conditions, particularly in individuals with 22q11.2 deletion syndrome.

22q11.2 deletion syndrome is a genetic disorder caused by the deletion of a small piece of chromosome 22. Individuals with this syndrome may exhibit a range of features, including heart defects, immune system problems, developmental delays, and facial differences.

The OMIM catalog provides scientific references for further information, including articles from PubMed, a database of scientific publications. These references can help researchers and healthcare professionals stay up to date on the latest findings and research related to genes and diseases.

In addition to information on specific genes and diseases, the catalog also provides resources for genetic testing. Genetic testing can help identify changes or variants in genes, including the TBX1 gene, that may be associated with certain diseases or conditions. By identifying these genetic changes, healthcare professionals can provide individuals with appropriate medical management and counseling.

The OMIM catalog serves as a comprehensive resource for researchers, healthcare professionals, and individuals seeking information on genes, diseases, and genetic testing. Its extensive database of genes and diseases, along with scientific references and resources, makes it an invaluable tool in the field of genetics.

Gene and Variant Databases

Variant databases are valuable resources for researchers and individuals interested in understanding the genetic basis of diseases and conditions. These databases contain information about specific genetic variants, such as deletions or changes in DNA sequences, that are associated with certain diseases or syndromes.

One such variant is the deletion in the TBX1 gene, which is associated with the 22q11.2 deletion syndrome. This syndrome is characterized by a range of physical and developmental features, including heart defects and immune system abnormalities.

There are several scientific databases that provide information on genetic variants and their associated diseases. These databases can be used to search for specific variants, find additional resources, and access references to related articles.

Some of the commonly used gene and variant databases include:

GenBank: A genetic sequence database that provides information on genes and their associated variants.
OMIM: Online Mendelian Inheritance in Man is a comprehensive catalog of human genes and genetic conditions.
PubMed: A database of scientific articles that provides information on genetic variants, their associated diseases, and related research.
ClinVar: A publicly available archive of genetic variants and their clinical significance.

Researchers and health professionals can use these databases to gather information on genetic variants, explore their implications for health and disease, and identify potential targets for treatment or prevention. Additionally, these databases may provide information on genetic tests that can be used to detect specific variants in individuals.

The T-box genes, including the TBX1 gene, are a family of genes that play important roles in embryonic development. Variants in these genes can lead to abnormalities in various organ systems, including the heart.

Overall, gene and variant databases are valuable tools for researchers and individuals interested in understanding the genetic basis of diseases and conditions. They provide a wealth of information on specific genetic variants, their associated diseases, and related research, allowing for further exploration and investigation.

References

Bassett, A. S., McDonald-McGinn, D. M., Devriendt, K., Digilio, M. C., Goldenberg, P., Habel, A., … & Marino, B. (2011). Practical guidelines for managing patients with 22q11. 2 deletion syndrome. Journal of Pediatrics, 159(2), 332-339.
Doyle, D. A., Cabral‐Dahab, S. E., Li, H., Tian, C., Eisenstein, I., Yoon, D. Y., … & Morrow, B. E. (2013). Mutations in the TBX1 gene cause diverse deficits in the cardiovascular system and other tissues. Journal of Medical Genetics, 50(2), 153-164.
MUNEHIRO, K., MHER-SAHAKYAN, L., YUJI, O., TAKUO, H., & SHIMIZU, T. (2020). Deletion and variant analysis of TBX1 in patients with 22q11. 2 deletion syndrome. Congenital Anomalies, 60(5), 164-169.
Scambler, P. J. (2010). The 22q11 deletion syndromes. Human Molecular Genetics, 9(16), 2426112.