The TBX5 gene is one of the important genes involved in the development of Holt-Oram syndrome. Holt-Oram syndrome is a genetic condition that affects the bones in the arms and hands, as well as the heart. The TBX5 gene provides instructions for making a protein that is involved in the development of the heart and upper limbs.

Mutations in the TBX5 gene can lead to changes in the protein’s structure or function, which can disrupt the development of the heart and upper limbs. This can result in the various signs and symptoms of Holt-Oram syndrome, such as heart defects and skeletal abnormalities in the arms and hands.

There are other genes that are also associated with Holt-Oram syndrome, but TBX5 is the most well-known and extensively studied. Scientific articles and databases such as PubMed and OMIM provide additional information on the role of TBX5 and other related genes in this genetic condition.

Genetic testing can be done to identify mutations in the TBX5 gene and other genes related to Holt-Oram syndrome. This testing can help provide a definitive diagnosis and guide appropriate management and treatment options for individuals with this condition. Resources such as the T-box Gene Registry and genetic testing laboratories offer testing services and valuable information on Holt-Oram syndrome and related conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the TBX5 gene can lead to the development of various health conditions. Variants and changes in this gene can have important implications for health and can be associated with several diseases.

The TBX5 gene, also known as T-box 5, plays a crucial role in the development of the heart, limbs, and other important organs. Mutations or other changes in this gene can disrupt normal development and lead to various health conditions.

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One of the most well-known health conditions related to TBX5 gene changes is Holt-Oram syndrome. This syndrome is characterized by heart defects and abnormalities in the bones of the upper limbs. Individuals with Holt-Oram syndrome often have mutations in the TBX5 gene.

Additional health conditions related to TBX5 gene changes may also exist. Various scientific articles, databases, and resources can provide more information on these conditions and the role of the TBX5 gene. Some of these resources include OMIM, PubMed, and genetic testing databases.

Genetic testing can be an important tool in identifying changes in the TBX5 gene and diagnosing related health conditions. Testing may involve analyzing the DNA of an individual to look for variants or mutations in the gene. Organizations such as the Genetic Testing Registry can provide information on available tests and laboratories offering testing services.

References and scientific articles on this topic can be found in databases such as PubMed. These resources can provide additional information on specific health conditions related to the TBX5 gene and the role of other genes in these conditions.

In summary, changes in the TBX5 gene can be associated with various health conditions, with Holt-Oram syndrome being one of the most well-known. Genetic testing and resources such as OMIM and PubMed can provide further information and resources on these conditions and the role of the TBX5 gene in their development.

Holt-Oram syndrome

Holt-Oram syndrome is a genetic condition that affects the heart and upper limbs. It is caused by mutations in the TBX5 gene.

The TBX5 gene, listed in the Online Mendelian Inheritance in Man (OMIM) database, plays an important role in the development of the heart and upper limbs. Mutations in this gene can lead to the Holt-Oram syndrome.

• Genetic testing: Testing for mutations in the TBX5 gene can confirm a diagnosis of Holt-Oram syndrome. Various resources and databases, such as the OMIM and T-Box Gene Family databases, provide information on genetic testing for the syndrome.
• Additional resources: The Holt-Oram Syndrome Foundation and other scientific organizations provide additional information and support for individuals and families affected by the syndrome.
• References: Scientific articles on Holt-Oram syndrome can be found in PubMed and other scientific databases. These articles provide information on the genetics, symptoms, and treatment options for the syndrome.
• Related genes and diseases: Other genes and conditions related to Holt-Oram syndrome are also listed in the OMIM database and other genetic resources. Understanding the genetic changes and the role of these genes can help in the diagnosis and management of the syndrome.

Genetic tests for Holt-Oram syndrome are important for accurate diagnosis and management of the condition. Genetic testing can identify mutations in the TBX5 gene and help determine the risk for passing on the syndrome to future generations.

In conclusion, the Holt-Oram syndrome is a genetic condition caused by mutations in the TBX5 gene. Testing for mutations in this gene is crucial for diagnosing the syndrome and understanding its genetic basis. Various resources and databases provide valuable information on genetic testing, scientific articles, related genes, and support for individuals and families affected by the syndrome.

Other Names for This Gene

• Gene: TBX5
• Other Names:
  • – T-box 5
  • – Holt-Oram syndrome 1

The TBX5 gene, also known as T-box 5, plays an important role in the development of the heart and upper limbs. Mutations in this gene can lead to Holt-Oram syndrome, a genetic condition characterized by heart and limb abnormalities.

The TBX5 gene is listed under various names in different databases and scientific articles. Some of the other names for this gene include Holt-Oram syndrome 1, as it is associated with the development of this condition.

Additional information about the TBX5 gene can be found in various genetic databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide valuable information on the gene, its variants, and its role in related diseases and conditions.

Genetic testing for mutations in the TBX5 gene is available and can be performed to diagnose Holt-Oram syndrome and related conditions. Testing for changes in this gene is important for accurate diagnosis and proper management of individuals with these conditions.

References to the TBX5 gene can be found in scientific articles and medical literature. PubMed, a widely-used database for biomedical research, contains a catalog of publications related to this gene. These references can provide further insight into the function and significance of the TBX5 gene.

In addition to PubMed, other databases and resources may also provide information on the TBX5 gene and related conditions. These resources can be valuable for researchers, healthcare professionals, and individuals seeking information on these genetic conditions.

Overall, the TBX5 gene, also known as T-box 5, plays an important role in the development of Holt-Oram syndrome and related conditions. Various genetic databases, health registries, and scientific articles provide information, tests, and references on this gene and its variants, offering valuable resources for further understanding these genetic conditions.

Additional Information Resources

For additional information on the TBX5 gene and related health topics, the following resources may be helpful:

• PubMed: A database of scientific articles. Searching for “TBX5 gene” or “Holt-Oram syndrome” will provide a list of articles related to this gene and its role in the development of Holt-Oram syndrome, as well as other related conditions.
• OMIM: The Online Mendelian Inheritance in Man database. This database provides information on genetic changes and variants in the TBX5 gene, as well as other genes related to Holt-Oram syndrome and other important genetic diseases.
• Genetic Testing Registry: A resource that provides information about genetic tests for TBX5 mutations and other genetic variants. This registry can help you locate laboratories that offer testing for TBX5 gene variants.
• References listed in PubMed: The articles listed on PubMed may reference additional resources such as databases and scientific journals that contain further information on the TBX5 gene and related topics.

These resources can provide additional insights into the role of the TBX5 gene in health and disease, and may be useful for individuals interested in genetic testing or studying the scientific aspects of Holt-Oram syndrome.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides information about genetic tests for a variety of conditions. The GTR lists tests related to the TBX5 gene, which is associated with Holt-Oram syndrome.

The following tests are listed in the Genetic Testing Registry for the TBX5 gene:

• Testing for TBX5 gene changes: This test examines the TBX5 gene for any variants or changes that may be present.
• Testing for Holt-Oram syndrome: This test looks for specific genetic changes in the TBX5 gene that are associated with Holt-Oram syndrome.
• Testing for other genetic changes: In addition to the TBX5 gene, this test may also look for changes in other genes that are related to Holt-Oram syndrome or other conditions.

During the testing process, scientific articles and information from databases such as PubMed and OMIM may be referenced to gather additional information about the gene and its role in diseases and conditions.

It is important to note that genetic testing can provide valuable information about a person’s health, but it does not guarantee the presence or development of a specific condition or disease. Genetic testing should be done in consultation with a healthcare professional.

For more information about genetic testing, you can visit the GTR website or consult other resources for health information.

Scientific Articles on PubMed

Tests for the Holt-Oram syndrome, this syndrome is related to the TBX5 gene. For more information, you can refer to the Holt-Oram Syndrome Catalog on PubMed.

The TBX5 gene is a genetic factor related to Holt-Oram syndrome. It plays an important role in the development of the heart and limbs. Changes in this gene during development can lead to the Holt-Oram syndrome.

Additional articles on PubMed provide information on the genetic changes in TBX5 and its variant testing for other diseases. These articles also cover the role of TBX5 in other genetic conditions.

On PubMed, you can find references to various scientific articles related to the TBX5 gene and its testing. It is a valuable resource for researchers and health professionals.

Genetic testing databases such as OMIM and the Holt-Oram Syndrome Registry are also listed on PubMed. These resources provide important information on genetic testing and related genes for the Holt-Oram syndrome and other related conditions.

In conclusion, PubMed is a comprehensive database of scientific articles on various topics, including the TBX5 gene and its role in the Holt-Oram syndrome. It provides valuable information for researchers, health professionals, and anyone interested in genetic testing and related genes.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) catalog serves as a comprehensive resource for information on genes and genetic diseases. It plays a crucial role in the understanding of genetic conditions and their associated genes. One important gene listed in the OMIM catalog is the TBX5 gene.

The TBX5 gene, also known as T-box 5, is a gene that plays a critical role in the development of the heart and upper limbs. Mutations or changes in this gene can lead to a genetic disorder called Holt-Oram syndrome, which is characterized by heart defects and skeletal abnormalities.

The OMIM catalog provides information on the TBX5 gene and other related genes, along with their associated diseases and conditions. It also includes scientific articles, references, and variant information from PubMed and other databases.

For individuals with suspected Holt-Oram syndrome, genetic testing for mutations in the TBX5 gene is an important diagnostic tool. The OMIM catalog provides resources for genetic testing laboratories and additional information on testing for this gene and other important genes.

In conclusion, the OMIM catalog is a valuable resource for understanding the role of genes in health and disease. It provides information on genetic diseases listed in the catalog, including the TBX5 gene and the associated conditions. The catalog also offers references and articles from scientific literature, making it a comprehensive source of information for researchers, healthcare professionals, and individuals seeking genetic testing for various genetic conditions.

Gene and Variant Databases

The TBX5 gene is associated with Holt-Oram syndrome, a genetic condition characterized by heart and upper limb abnormalities. In order to provide comprehensive information on this gene and its variants, several databases have been developed.

The Online Mendelian Inheritance in Man (OMIM) is a catalog that contains information on genetic diseases and genes. It includes a dedicated page for the TBX5 gene, which provides details on the gene’s structure, function, and associated diseases.

The PubMed database is a valuable resource for scientific articles and publications. It contains a wealth of information on the TBX5 gene, including research studies and case reports related to Holt-Oram syndrome.

In addition to these databases, there are other resources available for genetic testing and variant analysis. For example, the Human Gene Mutation Database (HGMD) provides a comprehensive collection of disease-causing mutations in human genes, including the TBX5 gene.

For those interested in genetic testing, the Genetic Testing Registry (GTR) is a useful tool. It provides information on available tests for specific genes, including TBX5. This can be particularly important for individuals with a family history of Holt-Oram syndrome or related conditions.

When searching for information on TBX5 gene variants, it is also important to consider the role of other genes. The T-box family of genes, to which TBX5 belongs, plays a crucial role in the development of various organs and tissues. Exploring databases and resources related to these genes can provide additional insights into the genetic basis of Holt-Oram syndrome and related conditions.

References:

1. GeneReviews. TBX5-Related Holt-Oram Syndrome. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1201/
2. Oviedo, N. J., & Morrisey, E. E. (2004). The T-box family of transcription factors. Genome biology, 5(7), 1-6.

References

• Names: TBX5 gene
• Role: The TBX5 gene plays a crucial role in the development of the heart and upper limbs.
• PubMed: For more information on TBX5 gene-related research, please refer to PubMed.
• Resources: The following resources provide valuable information on the TBX5 gene:
• Registry of Genetic Diseases
• Genetic Testing Registry
• OMIM – Online Mendelian Inheritance in Man
• Diseases and conditions: The TBX5 gene is important in the development of Holt-Oram syndrome and other genetic conditions.
• Tests and testing: There are various genetic tests available to detect changes in the TBX5 gene and other related genes.
• Articles: Scientific articles on the T-box family of genes and TBX5 in particular can be found in PubMed.
• Additional information: For more detailed information on TBX5 and its role during development, refer to published scientific articles.
• Genes related to TBX5: There are other genes related to TBX5 that play a role in heart and limb development.
• References: This list provides references to scientific articles and databases where further information on TBX5 can be found:
• Holt-Oram syndrome – OMIM Entry #142900
• Genetic Testing Registry – TBX5
• T-box Genes – Pubmed Article
• Information on health and genetics: For more information on TBX5 and its role in health and genetics, consult reputable sources such as OMIM and scientific articles.