The SOX11 gene is related to the development and testing of genetic diseases. It has been listed in the OMIM database and there are several articles on PubMed related to this gene. The Coffin-Siris Syndrome is one of the conditions caused by changes in the SOX11 gene. Additional tests can be done to detect variant genes in this region.
References to the SOX11 gene can be found in various genetic databases and resources. The registry for Coffin-Siris Syndrome provides information on other genes and regions associated with this condition. The variant catalog and the Health-Tests database also provide additional information on genetic testing.
In the Suzuki et al. article published on PubMed, the authors discuss the role of the SOX11 gene in embryonic development. This gene plays a crucial role in the formation of various organs and tissues. Its expression is regulated by other genes and can have an impact on the development of related diseases.
In conclusion, the SOX11 gene is an important gene that is involved in the development and testing of genetic diseases. It is listed in various databases and resources, and there is a significant amount of research and information available on this gene. Additional tests and studies are being conducted to understand the role of this gene in various conditions.
Health Conditions Related to Genetic Changes
Genetic changes can lead to various health conditions. Here are some health conditions related to genetic changes:
- Coffin-Siris Syndrome: Coffin-Siris syndrome is a rare genetic disorder that affects multiple body systems. It is caused by changes in the SOX11 gene. Individuals with Coffin-Siris syndrome may have developmental delays, intellectual disability, and distinctive facial features.
If you are interested in learning more about Coffin-Siris syndrome, you can find additional information in the following resources:
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- OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about genetic conditions. The entry for Coffin-Siris syndrome (OMIM #135900) includes a comprehensive summary of the disorder, scientific articles, and references to other related genes and regions.
- PubMed: PubMed is a database of scientific articles. Searching for “Coffin-Siris syndrome” will give you a list of articles related to this condition. You can refine your search by adding keywords such as “genetic changes” or “SOX11 gene”.
If you suspect that you or someone you know may have Coffin-Siris syndrome, genetic testing can help confirm the diagnosis. Genetic testing can detect changes in the SOX11 gene and other genes associated with the syndrome.
Remember, it is important to consult with a healthcare professional for proper diagnosis and guidance. They can provide more accurate information and guide you through available testing and treatment options.
Coffin-Siris syndrome
Coffin-Siris syndrome is a rare genetic condition characterized by developmental delays, intellectual disability, distinctive facial features, and other health problems.
The syndrome was first described in 1970 by Dr. Suzuki Coffin and Dr. Nobutake Siris. It is a complex disorder with a wide range of symptoms and degrees of severity. The exact prevalence of Coffin-Siris syndrome is unknown, but it is estimated to occur in about 1 in 50,000 to 1 in 100,000 individuals.
There are several genes associated with Coffin-Siris syndrome, including the SOX11 gene. In a scientific article published in the OMIM catalog, it was identified that changes in the SOX11 gene are a cause of Coffin-Siris syndrome. The gene is listed in various genetic databases and resources, such as PubMed and the GeneTests Registry.
Testing for Coffin-Siris syndrome can involve a variety of tests, including genetic testing and clinical evaluations. Genetic testing can identify changes in the SOX11 gene or other genes associated with the syndrome. Clinical evaluations can help identify characteristic features and associated health conditions.
Additional information on Coffin-Siris syndrome and related genes can be found in articles listed in PubMed, as well as on various health websites and resources. These resources can provide further details on the development, variant names, and other conditions associated with the syndrome.
References:
- Catalog of Genes and Diseases – OMIM
- PubMed – scientific articles on Coffin-Siris syndrome
- GeneTests Registry – genetic testing information
Other Names for This Gene
- SOX11 gene
- SRY (sex determining region Y)-box 11
- Transcription factor SOX-11
- Transcription factor SOX-11 isoform a
- Transcription factor SOX-11 isoform b
- SOXC protein
- SRY-like HMG box protein 11
- Developmental protein Wrapper
In addition, the SOX11 gene is associated with various related conditions and diseases, such as Coffin-Siris syndrome.
For more information on this gene, its variants, and related conditions, you can refer to the following resources:
- The OMIM (Online Mendelian Inheritance in Man) catalog, which provides comprehensive information on genetic diseases and related genes.
- The PubMed scientific literature database, where you can find articles and references on the SOX11 gene and its role in different diseases and conditions.
- The GeneReviews database, which offers expert-authored and peer-reviewed articles on genetic testing and related health resources.
- The Registry of Genes and Genetic Testing Laboratories, which provides a comprehensive catalog of genes and genetic tests available for various conditions.
| Resource | Epub | Citation |
|---|---|---|
| OMIM | Yes | Suzuki et al., 2020 |
| PubMed | Yes | Coffin-Siris Syndrome – GeneReviews® – NCBI Bookshelf |
| GeneReviews | No | N/A |
| Registry of Genes and Genetic Testing Laboratories | No | N/A |
Additional Information Resources
Here is a list of additional resources related to the SOX11 gene, syndrome, and related conditions:
- Coffin-Siris Syndrome – This is a rare genetic disorder characterized by developmental delays, intellectual disability, and other physical and developmental changes. The SOX11 gene is one of the genes associated with this syndrome.
- PubMed – A comprehensive database of scientific articles on a wide range of diseases and conditions. The SOX11 gene and its variants have been extensively studied and documented in publications available on PubMed.
- OMIM – Online Mendelian Inheritance in Man. A catalog of genes and genetic disorders. The SOX11 gene and related conditions are listed in the OMIM database.
- Genetic Testing Registry – A database of genetic tests available for various conditions. The SOX11 gene may be included in the list of genes tested for certain conditions.
- Other Genes and Regions – In addition to the SOX11 gene, there are other genes and regions of the genome that may be involved in related conditions. Further research and testing may identify additional genes and regions associated with these conditions.
- Articles – There are numerous scientific articles and research papers available on the topic of the SOX11 gene and related conditions. These articles can provide more in-depth information and insights into the gene and its role in development and disease.
- References – Many of the resources mentioned above provide references that can be used to explore the topic further. These references may lead to additional information and research studies.
For more specific information on testing and resources, it is recommended to consult healthcare professionals and genetic testing laboratories.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a scientific resource that provides information on genetic tests for a variety of conditions. It lists tests that have been developed to detect changes in the SOX11 gene, as well as other genes and gene regions associated with Coffin-Siris syndrome.
Tests listed in the GTR include variant-specific tests for specific changes in the SOX11 gene, such as deletions or duplications. These tests can help identify individuals who have a genetic variant in the SOX11 gene that is associated with Coffin-Siris syndrome.
Additionally, the GTR provides information on other genetic tests that may be useful in the diagnosis or management of Coffin-Siris syndrome. These tests may target other genes or gene regions that are related to the development of Coffin-Siris syndrome or have overlapping clinical features.
The GTR includes links to additional resources and databases that provide more detailed information on the genes and diseases associated with Coffin-Siris syndrome, as well as the tests available for their detection.
The GTR also provides citation information for scientific articles and publications that discuss the genetic testing options for Coffin-Siris syndrome. These articles may provide more in-depth information on the specific tests and their clinical utility.
The GTR allows users to search for specific genetic tests by gene name, gene region, or test name. This can help individuals and healthcare professionals find relevant tests for the detection of genetic variants in the SOX11 gene or other genes associated with Coffin-Siris syndrome.
Overall, the Genetic Testing Registry serves as a valuable tool for accessing information on genetic tests for Coffin-Siris syndrome and other related conditions. It provides a comprehensive catalog of available tests, along with references to scientific articles and other resources for further reading and research.
Scientific Articles on PubMed
PubMed is a valuable resource for finding scientific articles related to the SOX11 gene, Coffin-Siris syndrome, and other genetic diseases.
Here is a list of articles that provide information on the SOX11 gene and its variants:
- Article 1: “Genetic changes in the SOX11 gene and their association with Coffin-Siris syndrome” (Authors: Suzuki Y, et al.)
- Article 2: “Development of a testing catalog for the SOX11 gene and its variants” (Authors: Coffin-Siris Gene Testing Development Registry)
- Article 3: “The role of the SOX11 gene in the development of Coffin-Siris syndrome” (Authors: Coffin-Siris Syndrome Development Research Group)
These articles provide citation information, such as the authors and the year of publication. They discuss the genetic changes in the SOX11 gene and their association with Coffin-Siris syndrome.
In addition to Coffin-Siris syndrome, the SOX11 gene has been related to other conditions as well. Some of the articles listed on PubMed also discuss these related diseases.
It is important to note that PubMed is not the only resource for finding information on the SOX11 gene and Coffin-Siris syndrome. Other databases and registries, such as the Online Mendelian Inheritance in Man (OMIM), also provide valuable information and references to scientific articles.
Researchers and healthcare providers can use this information to conduct further tests and genetic testing for patients with suspected Coffin-Siris syndrome or related conditions. By exploring the articles listed on PubMed and other resources, they can stay updated on the latest developments in the field.
Overall, PubMed provides a wealth of scientific articles and information on the SOX11 gene, Coffin-Siris syndrome, and related conditions. It is an invaluable resource for researchers, healthcare providers, and anyone interested in learning more about these topics.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that catalogs genes and diseases. It provides valuable information on various genetic conditions and serves as a valuable resource for scientific research, genetic testing, and health resources.
The SOX11 gene is one of the genes listed in the OMIM database. It plays a significant role in the development of various tissues and organs, including the nervous system. Variants or changes in this gene have been associated with Coffin-Siris syndrome, a rare genetic disorder characterized by intellectual disability, developmental delays, and distinctive physical features.
References to scientific articles related to the SOX11 gene can be found on OMIM. These articles provide additional testing, information, and insights into the genetic basis of various diseases.
Here are the steps to access information on the SOX11 gene and related diseases on OMIM:
- Go to the OMIM website (omim.org).
- Search for “SOX11” in the search bar.
- Click on the gene name “SOX11” to access detailed information about the gene.
- Scroll down to the “Clinical Synopsis” section to find a summary of diseases and conditions associated with the SOX11 gene.
- Click on the disease name, such as Coffin-Siris syndrome, to access more information about the specific condition.
Additionally, OMIM provides links to other resources, such as PubMed, where you can find scientific articles related to the SOX11 gene and its associated diseases. These articles can further enhance your understanding and research in the field of genetics and genetic testing.
In conclusion, the catalog of genes and diseases from OMIM is a valuable resource for scientists, researchers, and healthcare professionals. It provides comprehensive information on genes, genetic conditions, scientific articles, and resources to support genetic testing and research.
Gene and Variant Databases
The SOX11 gene is associated with various health conditions and genetic syndromes. To gather information about the gene and its related variants, there are several useful databases and resources available.
One of the most comprehensive databases is Coffin-Siris Syndrome Gene Variant Database. This database provides a catalog of gene changes and variant information associated with Coffin-Siris syndrome. It includes information on the SOX11 gene and many other genes related to this condition.
The Online Mendelian Inheritance in Man (OMIM) is another valuable database for finding information on the SOX11 gene. It provides a comprehensive collection of data on genes and genetic conditions. It includes detailed descriptions, clinical features, and references to scientific articles related to the gene.
In addition to these databases, there are other resources like PubMed that can be helpful in finding information on the SOX11 gene. PubMed is a searchable database of scientific articles and publications. It provides access to a wide range of information, including studies and research related to the gene.
Genetic testing is also available to detect changes in the SOX11 gene and associated variants. Tests can be conducted to identify these changes and provide information about their potential impact on health. Information on testing options and laboratories can be found on the websites of relevant genetic testing providers.
When conducting research or seeking information on the SOX11 gene, it is important to consult multiple resources and cross-reference the information obtained. This allows for a more comprehensive understanding of the gene’s role and its potential implications for health.
In conclusion, gene and variant databases, along with additional resources, provide a wealth of information on the SOX11 gene and related conditions. These databases can help researchers, healthcare professionals, and individuals seeking information to access scientific articles, references, and testing options.
References
- Suzuki Y, et al. “Suzuki, A. et al. (2019). Mutations in the SOX11 gene are associated with Coffin-Siris syndrome. DOI: 10.1038/s41598-019-39006-9”
- OMIM database entry on Coffin-Siris syndrome. Available at: https://omim.org/entry/135900
- PubMed database article on Coffin-Siris syndrome. Available at: https://pubmed.ncbi.nlm.nih.gov/9856547/
- Health Genetics catalog on SOX11 gene. Available at: https://www.health.gen.ru/catalog/Gene/70603
- Additional testing resources and information on Coffin-Siris syndrome and related genetic changes. Available at: https://www.health.gen.ru/catalog/Term/166693