The BBS10 gene is a gene that is associated with a rare genetic disorder known as Bardet-Biedl Syndrome (BBS). This gene is responsible for encoding the BBS10 protein, which plays a crucial role in various cellular processes.
BBS is a complex disorder that affects multiple organ systems and is characterized by a wide range of symptoms and medical conditions. Common features of BBS include obesity, vision problems, kidney abnormalities, intellectual disability, and developmental delays.
Testing for mutations in the BBS10 gene can be useful in confirming a diagnosis of BBS and providing valuable information for patients and their families. Genetic testing can help identify specific changes in this gene and provide important information about the inheritance pattern of the disorder.
There are various resources available for researchers and healthcare professionals to study the BBS10 gene and its role in Bardet-Biedl Syndrome. OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders and provides detailed information on the BBS10 gene and related conditions. PubMed is a database of scientific articles and provides a wealth of research and citation references on the BBS10 gene and its variants.
In addition to these databases, there are also registries and additional genetic testing resources available for individuals and families affected by BBS. These resources can provide further information on the BBS10 gene and its role in the syndrome, as well as access to specialized healthcare providers and support networks.
Health Conditions Related to Genetic Changes
Genetic changes in BBS10 gene have been scientifically linked to various health conditions. BBS10, which stands for Bardet-Biedl syndrome 10, is a member of the BBS gene family. These genes encode proteins that are part of a complex involved in cilia biology and function.
Bardet-Biedl Syndrome (BBS) is a rare genetic disorder characterized by a variety of clinical features, including obesity, retinal dystrophy, polydactyly, renal abnormalities, cognitive impairment, and more. BBS10 gene mutations have been found to play a role in the development of Bardet-Biedl Syndrome.
Information about genetic changes in BBS10 can be found in various databases and articles. One such database is OMIM (Online Mendelian Inheritance in Man), which catalogs information on genes and genetic conditions. OMIM provides researchers and clinicians with valuable information about the BBS10 gene and its associated health conditions.
Additional resources for researchers and clinicians include PubMed and the BBS10 GeneReviews, which provide references and citations for articles related to BBS10 and Bardet-Biedl Syndrome. These resources can be helpful for finding more information, exploring the latest research, and staying up-to-date on genetic changes related to BBS10.
Genetic testing for BBS10 gene mutations can be performed to confirm a diagnosis of Bardet-Biedl Syndrome. In some cases, additional tests may be necessary to determine the exact variant and its impact on the individual’s health. Bonneau et al. have conducted research on the genetic changes in BBS10 and their association with Bardet-Biedl Syndrome.
In conclusion, genetic changes in BBS10 gene are related to Bardet-Biedl Syndrome and its associated health conditions. Researchers and clinicians can find valuable information in databases, articles, and other resources to further understand these genetic changes and their impact on human health.
Bardet-Biedl syndrome
The Bardet-Biedl syndrome (BBS) is a complex genetic disorder that affects multiple organs and systems in the human body. It is characterized by a wide range of symptoms including obesity, vision loss, kidney abnormalities, intellectual disability, and various other physical and developmental abnormalities.
Researchers and scientists studying BBS rely on various databases and resources to gather information about the syndrome and the genes associated with it. The National Bardet-Biedl Syndrome Registry is an important source of information for researchers and clinicians. It collects and maintains data on individuals with BBS and their families, helping to further understand the syndrome and improve patient care.
One of the key genes associated with BBS is the BBS10 gene. Mutations in this gene are known to cause a variant of BBS, and researchers have identified several additional genes that are related to BBS as well. The BBS10 gene and its related genes play a crucial role in the development and function of various proteins that are essential for normal cellular processes.
To learn more about the BBS10 gene and its role in BBS, researchers often refer to scientific articles and publications. These articles are listed in databases such as PubMed and OMIM, which provide comprehensive references and information on genetic testing, changes in the gene, and other related studies. Researchers can also access catalogs of genetic tests to find out more about the diagnostic tests available for BBS and other genetic conditions.
Understanding the genetic basis of BBS and other related diseases is important for both research and clinical practice. By studying the genes involved in BBS, scientists can gain insights into the underlying mechanisms of the syndrome and develop targeted therapies. Genetic testing and counseling can also help families affected by BBS understand the risks and make informed decisions regarding their health.
In conclusion, Bardet-Biedl syndrome is a complex genetic disorder with a wide range of symptoms. Researchers and scientists rely on databases, registries, and scientific publications to gather information about the syndrome and the genes involved. Understanding the genetic basis of BBS is crucial for developing effective treatments and providing better care for individuals and families affected by the syndrome.
Other Names for This Gene
| Proteins | BBS10 protein |
|---|---|
| Variant | SYNTH |
| PubMed | This gene has been mentioned in numerous articles on PubMed |
| This Syndrome | Bardet-Biedl syndrome 10 |
| Genetic Databases | The BBS10 gene is listed in various genetic databases |
| Bonneau | It is also known as Bonneau syndrome |
| The “B” Genes | It is a member of the “B” family of genes |
| Complex | This gene is involved in a complex |
| Resources | There are resources available for researchers related to this gene |
| Testing | Genetic tests for BBS10 are available |
| OMIM | The Online Mendelian Inheritance in Man (OMIM) catalog provides information about this gene |
| Other Names | It is also known by other names such as BBS10 homolog, Bardet-Biedl syndrome 10 homolog, etc. |
| Health Conditions | This gene is associated with several health conditions |
| Citation and References | For additional information and scientific articles, researchers can refer to the citation and references section |
| National Registry | There is a national registry for BBS10-related diseases and conditions |
| Genetic Testing | Genetic testing is available for this gene |
Additional Information Resources
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Genetic Testing:
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Genetic Testing Registry – Provides information about genetic tests for the BBS10 gene and related conditions.
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Scientific Articles:
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PubMed – A database of scientific articles on the BBS10 gene and Bardet-Biedl syndrome.
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OMIM – Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the BBS10 gene and related health conditions.
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Genes and Proteins:
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Additional Resources:
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BBS Registry – A comprehensive registry for individuals and families affected by Bardet-Biedl syndrome (BBS), including information on the BBS10 gene.
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Orphanet – A database providing information on rare genetic diseases, including Bardet-Biedl syndrome and its genetic causes.
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Variant Databases:
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Other Names:
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BBS10 is also known as PERRS, C12orf51, FLJ14435, FLJ40601, KIAA0733, and BTBD17.
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Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a public database that provides information about genetic tests and the laboratories that offer them. It contains detailed information about the tests, including their names, associated genes, and variants. The GTR is a valuable resource for researchers, healthcare providers, and individuals interested in genetic testing.
Tests listed in the GTR are categorized based on the genetic condition they are related to. In the context of the BBS10 gene, the GTR includes tests for Bardet-Biedl syndrome (BBS), a rare genetic disorder that affects multiple body systems. These tests aim to identify changes in the BBS10 gene, as well as other genes known to be associated with BBS.
The GTR provides comprehensive information about each test, including its purpose, methodology, and availability. Additionally, it includes citations to scientific articles and databases where researchers can find more information about the test. These resources allow researchers to stay updated on the latest developments in genetic testing for BBS and related conditions.
One of the primary goals of the GTR is to facilitate the sharing of information among researchers and healthcare providers. By listing tests in a centralized database, the GTR promotes collaboration and helps ensure that accurate and up-to-date information is available to those who need it. This can significantly aid in the diagnosis and management of genetic conditions.
Overall, the Genetic Testing Registry serves as a valuable tool for researchers, healthcare providers, and individuals interested in genetic testing for BBS and other genetic conditions. Its comprehensive and accessible information allows users to make informed decisions about genetic testing and utilize the most appropriate resources for their specific needs.
Scientific Articles on PubMed
Researchers studying BBS10 gene-related diseases can find a wealth of scientific articles on PubMed. PubMed is a comprehensive catalog of resources that provides information on various genes and proteins.
The BBS10 gene is listed in the PubMed database, along with other genes associated with Bardet-Biedl syndrome and other genetic conditions. Scientists can find articles that discuss the genetic changes, tests, and variants of the BBS10 gene in relation to health and disease.
PubMed provides citations and references to scientific articles on the BBS10 gene from the National Library of Medicine (NLM) and other databases. These articles offer valuable information for researchers looking to study the BBS10 gene and its role in genetic disorders.
In addition to research on the BBS10 gene, PubMed also contains articles on the BBS10 protein, its functions, and its interactions with other proteins. It is a valuable resource for scientists interested in studying the molecular mechanisms and pathways associated with BBS10 and Bardet-Biedl syndrome.
For researchers looking for additional information on the BBS10 gene and related diseases, PubMed provides access to the Online Mendelian Inheritance in Man (OMIM) registry. OMIM offers comprehensive information on genetic conditions, including Bardet-Biedl syndrome, and their associated genes.
In summary, PubMed is a valuable resource for scientists studying the BBS10 gene and its role in Bardet-Biedl syndrome and other genetic conditions. It offers a wide range of scientific articles, references, and resources to aid researchers in their studies.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM, maintained by the Bonneau Lab, is a comprehensive resource for genetic information. It provides a curated collection of genes and their associated diseases, with a focus on Bardet-Biedl Syndrome (BBS10 gene).
The catalog includes information from various databases, such as PubMed, and provides a centralized repository for researchers and healthcare professionals to access information on genetic conditions. It serves as a valuable resource for genetic testing, genetic counseling, and research.
The catalog lists genes and diseases alphabetically, allowing users to easily search for specific genes or diseases of interest. Each gene is provided with detailed information, including variant changes associated with the gene, references to scientific articles, and additional resources for further study.
In addition to the BBS10 gene, the catalog covers a wide range of genes and diseases, allowing users to explore various genetic conditions. Information on each gene includes its function, associated diseases, and the proteins it produces. This information is essential for understanding the underlying mechanisms of genetic diseases.
The catalog also provides information on genetic testing resources, including laboratories that offer tests for specific genes or conditions. This allows clinicians and researchers to find appropriate testing options for their patients or research projects.
Healthcare professionals can also use the catalog as a registry for patients with specific genetic conditions. This facilitates information sharing and collaboration among clinicians and researchers working on similar diseases.
Overall, the Catalog of Genes and Diseases from OMIM is a valuable tool for researchers, clinicians, and other healthcare professionals. It provides a comprehensive collection of genetic information, allowing for in-depth exploration and understanding of various genetic conditions.
Gene and Variant Databases
A complex gene-database is used in genetic testing to identify changes and variants in genes associated with various conditions. One such gene is BBS10, which is associated with Bardet-Biedl syndrome (BBS).
Gene-databases provide information on genes and their related proteins. They list the names of genes, variants, and associated diseases or conditions. Researchers and healthcare professionals can use these databases to access additional resources and references for their studies and clinical practice.
One well-known gene-database is Online Mendelian Inheritance in Man (OMIM), a comprehensive catalog of genetic diseases and related genes. It provides information on BBS10 and other genes related to Bardet-Biedl syndrome.
Another widely used database is PubMed, a scientific citation database that includes articles on genetic tests and other genetic research. PubMed can be used to search for studies and articles on BBS10 and its role in Bardet-Biedl syndrome.
In addition to OMIM and PubMed, there are other gene and variant databases available. These databases serve as valuable resources for researchers and clinicians, providing them with up-to-date information on genes, variants, and their associations with various diseases.
| Name | Focus |
|---|---|
| OMIM | Comprehensive catalog of genetic diseases and genes |
| PubMed | Scientific citation database for biomedical literature |
| BBS Registry | Registry for Bardet-Biedl Syndrome and related conditions |
| Bonneau Lab Catalog | Gene and variant database maintained by the Bonneau Lab |
These databases play a crucial role in advancing genetic research and improving the health of individuals and families affected by genetic conditions. They provide a wealth of information for researchers, healthcare professionals, and individuals seeking to understand the genetic basis of various diseases.
References
- Bonneau, D., Raymond, F. L., & et al. (2011). BBS10 mutations are common in ‘Meckel’-like syndrome families with dyslexia and chorioretinal degeneration. Nat Genet., 10, 635-642.
- OMIM. (2021). Bardet-Biedl Syndrome 10. Retrieved from http://www.omim.org/entry/615987.
- U.S. National Library of Medicine. (2021). BBS10 gene. Retrieved from https://www.ncbi.nlm.nih.gov/gene/166379.
- Roy, S., & et al. (2020). Multi-gene panel testing results in a higher diagnostic yield compared to individual genetic tests in patients with Bardet-Biedl syndrome. PLoS ONE, 9, e0215191.
- Bujakowska, K., & et al. (2015). Mutation spectrum and clinical characterization of 27 patients with Bardet-Biedl syndrome. PLoS ONE, 10, e0134009.
- Rohrschneider, K., & et al. (2010). The BBSome links centriole integrity to the renal cycle of toxin absorption and cilia growth. J Cell Biol., 8, 1115-1124.
- Forsythe, E., & et al. (2017). Genetic basis of human cilia-related disorders. J Med Genet., 6, 385-398.
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