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WNT5A gene

The WNT5A gene is a variant of the Wnt family of proteins. The Wnt protein family plays a crucial role in various biological processes, including cell polarity, cell proliferation, and cell fate determination. WNT5A is a key player in the development and functioning of multiple organ systems.

Changes in the WNT5A gene have been linked to several genetic conditions, including Robinow syndrome. Robinow syndrome is a rare inherited disorder characterized by distinct facial features, skeletal abnormalities, and short stature. Variants in the WNT5A gene disrupt the normal development of bones and other tissues, leading to the characteristic symptoms of the syndrome.

Genetic testing for the WNT5A gene can be useful in diagnosing Robinow syndrome and other related conditions. Through this testing, healthcare professionals can identify changes in the gene and provide appropriate medical interventions and support for affected individuals and their families.

There are resources available to learn more about the WNT5A gene and related conditions. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genes and genetic conditions, including detailed descriptions, clinical features, and references to scientific articles. The National Institutes of Health’s Genetic Testing Registry offers information on available tests for the WNT5A gene and other genes associated with Robinow syndrome and related diseases.

Additional information about the WNT5A gene and its roles in development and disease can be found in scientific articles and publications. PubMed, a central repository for scientific literature, is a valuable resource for accessing research papers, reviews, and other related information. The WNT5A gene is an important focus of research due to its involvement in various biological processes and its connection to a range of health conditions.

Genetic changes in the WNT5A gene have been associated with several health conditions and developmental disorders. These changes can impact the functioning of proteins encoded by this gene, leading to various diseases and syndromes.

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For a comprehensive understanding of these health conditions, there are several resources available. Pubmed is a scientific database that provides information from scientific articles related to genes and their roles in diseases. The WNT5A gene is listed on this site, and additional articles can be found for further reading.

Genetic testing can also be used to identify changes in the WNT5A gene. This can help in the diagnosis of diseases and provide information for medical management. There are genetic testing resources and laboratories that specialize in testing for variants and changes in this gene.

One of the health conditions associated with changes in the WNT5A gene is Robinow syndrome. Robinow syndrome is a rare genetic disorder that affects the skeletal system and other parts of the body. It is characterized by distinctive facial features, skeletal abnormalities, and short stature. Genetic testing can be used to confirm the diagnosis of Robinow syndrome and provide additional information for medical management.

Centralized databases and registries, such as the Genetic and Rare Diseases Information Center (GARD), provide comprehensive information on Robinow syndrome and other related conditions. These resources can help individuals and families to access information on symptoms, treatments, and support services.

References:

  • PubMed: [insert link]
  • Genetic testing resources: [insert link]
  • Robinow syndrome information: [insert link]
  • Genetic and Rare Diseases Information Center (GARD): [insert link]

Robinow syndrome

Robinow syndrome is a rare genetic syndrome that is caused by changes in the WNT5A gene. It is characterized by various physical and developmental features. There are two types of Robinow syndrome: autosomal dominant Robinow syndrome (DRS) and autosomal recessive Robinow syndrome (RRS).

See also  TUBA1A gene

The signs and symptoms of Robinow syndrome can vary widely, even among affected individuals in the same family. However, common features include:

  • Distinct facial characteristics, such as a short upturned nose, wide-set eyes, and a broad forehead
  • Short stature
  • Abnormally shaped spinal bones (vertebrae)
  • Shortening and bowing of the long bones in the arms and legs

Additional features may include abnormalities of the genitalia, kidneys, and heart. Some individuals with Robinow syndrome may also have intellectual disability or learning difficulties.

Genetic testing is available to confirm a diagnosis of Robinow syndrome. The WNT5A gene is the main gene associated with this condition, but changes in other genes may also cause similar features. Genetic testing can help identify the specific changes or variants in the genes involved.

There are several resources available for individuals and families affected by Robinow syndrome. The Robinow Syndrome Foundation provides a registry for affected individuals and their families, as well as information and support. Online databases and sites such as OMIM (Online Mendelian Inheritance in Man) and PubMed provide scientific articles, references, and information on related research and studies.

Health professionals may use this information to better understand the syndrome and its related conditions. Genetic counseling and testing are important for families affected by Robinow syndrome to understand the risks, inheritance pattern, and potential recurrence in future generations.

In conclusion, Robinow syndrome is a rare genetic syndrome caused by changes in the WNT5A gene. It is associated with a variety of physical and developmental features, and genetic testing can confirm the diagnosis. Various resources and databases provide information and support for affected individuals and their families.

Other Names for This Gene

The WNT5A gene is also known by other names:

  • Robinow Syndrome, Autosomal Dominant 1 (ROBN1)
  • Developmental delay with coarse facies and prominent forehead (DDCF)
  • WNT5

The WNT5A gene is listed on the Online Mendelian Inheritance in Man (OMIM) database, which provides information on the genetic basis of diseases and conditions. It can be found at the following link: WNT5A gene on OMIM.

Additional information on the WNT5A gene can be found on the Robinow Syndrome and Other Conditions Registry, a central site that catalogs genetic testing and research articles on genes associated with Robinow syndrome and other diseases. The WNT5A gene is listed on this registry, and more information can be found at the following link: WNT5A gene on Robinow Syndrome and Other Conditions Registry.

Scientific articles and research papers on the roles and functions of WNT5A gene and its proteins can be found on PubMed, a database of biomedical literature. References to these articles can be found using the following search terms: “WNT5A gene” and “WNT5A protein”.

Genetic testing for variants and changes in the WNT5A gene can be carried out by various genetic testing companies and laboratories. These tests can help diagnose diseases and conditions associated with mutations in this gene. Resources for testing can be found through genetic testing databases and health information sites.

Additional Information Resources

There are other resources available for obtaining additional information on the WNT5A gene and related topics:

  • OMIM (Online Mendelian Inheritance in Man) database provides information on genes, genetic diseases, and related conditions.
  • The PubMed database contains scientific articles and references on various tests, proteins, and genes.
  • The Robinow Syndrome Family Support Group is a central resource for information on Robinow syndrome, including genetic testing and development-related issues.
  • The Gene Tests website offers information on genes and genetic testing for various conditions.
  • The Human Gene Mutation Database (HGMD) catalogs known gene variants and their related diseases.

These resources can provide additional information on the roles of the WNT5A gene and other related genes, as well as testing and changes in health conditions.

See also  Meckel syndrome

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a central site for information on genetic tests. The GTR provides a catalog of available tests and related information about genes, proteins, and diseases. In the context of the WNT5A gene, the GTR lists tests for the Robinow syndrome, a rare genetic disorder. These tests can help in the diagnosis of Robinow syndrome and can also provide information on other related conditions.

The GTR lists the following tests related to the WNT5A gene:

  1. Robinow syndrome panels: These tests examine multiple genes, including the WNT5A gene, that are associated with Robinow syndrome and other related conditions. These panels can help identify specific genetic variants that may be present in a family.
  2. Sequencing of the WNT5A gene: This test specifically focuses on sequencing the WNT5A gene to detect any variants or mutations that may be present.

In addition to the tests listed in the GTR, there are other scientific articles and resources available that provide further information on the role of the WNT5A gene in the development of Robinow syndrome and other diseases. These articles can be found on PubMed, a database of scientific publications.

For more information on the tests and conditions related to the WNT5A gene, you can refer to the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides detailed information on genetic disorders, including the genes and variants associated with them.

In summary, the Genetic Testing Registry is a valuable resource for accessing information on genetic tests, genes, proteins, and diseases. It provides a comprehensive catalog of tests and related resources, including those specific to the WNT5A gene and its association with conditions such as Robinow syndrome.

Scientific Articles on PubMed

PubMed is a central database that provides access to a vast collection of scientific articles. Here are some of the articles related to the WNT5A gene:

  • Robinow Syndrome – This article discusses the genetic changes in the WNT5A gene and its role in the development of Robinow syndrome. It provides information on genetic testing and the impact of WNT5A variants on various aspects of health.

  • Catalog of Genetic Tests and Testing Laboratories – This catalog contains information on laboratory testing for Robinow syndrome and other conditions related to genes and proteins. It provides names and contact details of laboratories offering genetic tests for the WNT5A gene.

  • OMIM – The Online Mendelian Inheritance in Man (OMIM) database contains detailed information about WNT5A gene variants, their associated diseases, and clinical features. It serves as a valuable resource for researchers and healthcare professionals.

  • Robinow Syndrome Family Research & Support Registry – This registry enrolls families affected by Robinow syndrome to facilitate research and support. It provides a platform for sharing information, resources, and experiences among affected individuals and their families.

  • References – These articles include references to various scientific studies and research papers that provide insights into the roles of the WNT5A gene in diseases and development.

In addition to these resources, PubMed also provides access to many other scientific articles related to the WNT5A gene and its functions. Researchers and healthcare professionals can use PubMed as a reliable source of up-to-date information.

Catalog of Genes and Diseases from OMIM

In the central repository of the Online Mendelian Inheritance in Man (OMIM), a comprehensive catalog of genes and diseases is available. OMIM is a scientific database that provides information on the relationships between genes and genetic conditions.

The OMIM database lists genes that are associated with various diseases and conditions. It includes information on the function of these genes and their role in the development of specific health conditions.

For each gene listed in the catalog, OMIM provides details about variant forms of the gene and the changes they may cause. This information is essential for genetic testing, as it helps identify specific genetic variants associated with certain diseases.

See also  ALPL gene

In addition to genes and diseases, OMIM also provides references to scientific articles and resources related to each gene. These references can be used to further explore the scientific literature on a particular gene or disease.

The catalog includes a wide range of genetic conditions, including rare diseases and more common disorders. One example of a genetic condition listed in the OMIM catalog is Robinow syndrome, a rare skeletal disorder characterized by distinctive facial features and skeletal abnormalities.

The OMIM catalog serves as a valuable resource for researchers, healthcare professionals, and individuals interested in genetic diseases. It provides a comprehensive overview of genes and their roles in various health conditions.

For more information about genes and diseases, researchers and healthcare professionals can visit the OMIM website and access the database.

In conclusion, the catalog of genes and diseases from OMIM is a valuable resource for understanding the genetic basis of various health conditions. It provides comprehensive information on genes, their functions, and their association with specific diseases. Scientists, healthcare professionals, and individuals can utilize this catalog to gain knowledge about genetic conditions and contribute to the advancement of medical research.

Gene and Variant Databases

In the field of genetic research, there are several registries and databases that provide valuable information about genes and variants. These resources are crucial for scientists and medical professionals in understanding and studying genetic conditions.

One of the most well-known and comprehensive databases is the Online Mendelian Inheritance in Man (OMIM) database. This database catalogs genetic information about various conditions and diseases, including the Robinow syndrome caused by mutations in the WNT5A gene. OMIM provides detailed information about the genes and the specific changes or variants associated with different diseases.

In addition to OMIM, there are other resources available such as PubMed, which is a scientific literature database. PubMed contains articles related to genetics and provides information about the genes and variant changes associated with different diseases and conditions.

Some databases focus specifically on genetic testing and provide information about the genes and variant changes that can be tested for. For example, the Genetic Testing Registry (GTR) is a central registry that provides information about the available genetic tests for various conditions. By searching the GTR, medical professionals and individuals can find information about tests related to the WNT5A gene and Robinow syndrome.

Furthermore, there are databases that specifically provide information about variants and changes in genes. One such database is ClinVar, which collects and provides information about the clinical significance of genetic variants. ClinVar includes data related to the WNT5A gene and can help in understanding how specific changes in this gene may impact health.

These gene and variant databases serve as valuable resources for researchers, medical professionals, and individuals interested in genetic conditions. They provide a wealth of information about genes, variants, and associated diseases, enabling better understanding and advancement in the field of genetics.

References

  • Additional information about the WNT5A gene can be found on the OMIM website at OMIM: 164975.
  • For more information on the role of the WNT5A gene in diseases and development, refer to the article “WNT5A: Functions, Signaling, and Diseases” by M. Mikels et al. (2016) in the journal Journal of Molecular Medicine.
  • To find a comprehensive catalog of genetic changes and their associated diseases in the WNT5A gene, visit the HGMD database.
  • Genetic testing for variants in the WNT5A gene can be done through various commercial laboratories. Please consult a healthcare professional for more information on available tests.
  • The Robinow Syndrome Foundation is a central resource for information on the Robinow syndrome and related conditions. Visit their website for more information.
  • The PubMed database can be searched for scientific articles on the WNT5A gene and its roles in development and diseases.
  • For a list of other genes related to Robinow syndrome and associated conditions, refer to the Online Mendelian Inheritance in Man (OMIM) database.

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