The RPS6KA3 gene, also listed as CLIP2, is a gene that is associated with Coffin-Lowry syndrome. This gene has been studied extensively in scientific research and has been found to play a key role in the signaling pathway of the RSK2 protein.
Coffin-Lowry syndrome is a genetic condition that affects various aspects of a person’s health and development. It is characterized by intellectual disability, distinctive facial features, and skeletal abnormalities. This syndrome is caused by mutations in the RPS6KA3 gene, which leads to a deficiency of the RSK2 protein.
There have been numerous studies and articles published on the RPS6KA3 gene and its related conditions. The Online Mendelian Inheritance in Man (OMIM) database and other genetic databases catalog the gene, providing resources for researchers and healthcare professionals.
Genetic testing for changes in the RPS6KA3 gene is available and can be used to identify individuals with Coffin-Lowry syndrome or other related disorders. Additionally, there are various tests and resources available for diagnosis and testing of other genetic conditions and changes in other genes that are part of the RSK2 signaling pathway.
For more information on the RPS6KA3 gene and related conditions, references and articles can be found in scientific journals and databases such as PubMed. Genetic variant databases and registries also provide valuable information and resources for research and testing.
Health Conditions Related to Genetic Changes
Genetic changes can lead to a wide range of health conditions and diseases. The RPS6KA3 gene, also known as the ribosomal protein S6 kinase alpha-3 gene, has been identified as a gene that is associated with several health conditions.
One of the health conditions related to changes in the RPS6KA3 gene is Coffin-Lowry syndrome. This syndrome is characterized by intellectual disability, distinctive facial features, and skeletal abnormalities. Changes in the RPS6KA3 gene can cause disruptions in the signaling pathways of proteins, leading to the development of Coffin-Lowry syndrome.
To diagnose health conditions related to genetic changes in the RPS6KA3 gene, various genetic tests can be performed. These tests can detect specific variants or changes in the gene that are associated with the development of certain conditions. The results of these tests can help clinicians determine appropriate treatment plans and provide patients with valuable information about their health.
There are several resources available for more information on health conditions related to genetic changes in the RPS6KA3 gene. Scientific articles and other references can provide detailed information about the genetic changes, associated conditions, and available treatments. Online databases such as PubMed, ClinVar, OMIM, and the Genetic Testing Registry can also provide additional information and resources for patients and healthcare providers.
It is important to note that changes in genes other than RPS6KA3 can also be associated with various health conditions. Genetic testing and research have identified many genes that play a role in the development of different disorders and diseases. These genes and their associated conditions are often cataloged in scientific databases and resources, providing valuable information for further research and understanding.
Overall, genetic changes in genes like RPS6KA3 can contribute to the development of health conditions and diseases. Genetic testing, scientific research, and resources can help identify these changes, provide information about associated conditions, and guide treatment plans for patients.
Coffin-Lowry syndrome
Coffin-Lowry syndrome is a genetic condition caused by changes (mutations) in the RPS6KA3 gene. This gene provides instructions for making a protein that is involved in signaling within cells.
A list of references related to this condition, including articles, genetic testing, and other resources, can be found in the following databases:
- The Genetic Testing Registry (GTR)
- OMIM (Online Mendelian Inheritance in Man)
- PubMed
Additional information about Coffin-Lowry syndrome can be found on various health websites and genetics resources. The syndrome is characterized by intellectual disability, distinctive facial features, skeletal abnormalities, and other health conditions.
Genetic testing can be done to identify the changes in the RPS6KA3 gene and confirm the diagnosis of Coffin-Lowry syndrome. Other tests may also be performed to evaluate the individual’s specific symptoms and associated health conditions.
Coffin-Lowry syndrome is named after Dr. Robert Coffin, who first described the condition, and Dr. Michael Lowry, who provided further clinical details.
There are other genes associated with similar conditions, such as RSK2 gene mutations in the related disorder known as Rett syndrome. It is important to differentiate between these conditions, as their management and prognosis may differ.
The Coffin-Lowry Syndrome Foundation has been established to support individuals and families affected by this condition. They provide resources, information, and a genetic registry to facilitate research and testing.
| Intellectual disability | Distinctive facial features | Skeletal abnormalities | Other associated health conditions |
|---|---|---|---|
| Delayed development and learning difficulties | Wide-set eyes, down-slanting eyelid openings, prominent forehead | Short stature, abnormal curvature of the spine, joint abnormalities | Epilepsy, heart abnormalities, feeding difficulties |
In conclusion, Coffin-Lowry syndrome is a rare genetic condition caused by mutations in the RPS6KA3 gene. It is characterized by intellectual disability, distinct facial features, and skeletal abnormalities. Genetic testing can confirm the diagnosis, and additional tests may be done to evaluate associated health conditions. Various resources and support are available for individuals and families affected by this syndrome.
Other disorders
In addition to Coffin-Lowry syndrome, variants in the RPS6KA3 gene have been associated with several other genetic conditions. These conditions include:
- Raymond syndrome: A rare genetic disorder characterized by intellectual disability, short stature, and small hands and feet.
- Other related genetic disorders: Changes in the RPS6KA3 gene have been identified in individuals with other genetic disorders that share similar features with Coffin-Lowry syndrome.
For additional information on these disorders and related genetic changes, please refer to the following resources:
- ClinVar: A publicly available database of genetic variants and their clinical significance.
- OMIM: An online catalog of human genes and genetic disorders.
- PubMed: A database of scientific articles.
The Coffin-Lowry Syndrome International Registry can provide further information and resources on Coffin-Lowry syndrome, including genetic testing options and support.
Other Names for This Gene
- Symbol: RPS6KA3
- Alias: RSK2
- Other Names:
| Conditions | Genes, proteins, and tests | References |
|---|---|---|
| Coffin-Lowry syndrome | RSP6KA3 gene testing | ClinGen, OMIM, genetic testing registry, Coffin-Lowry Syndrome Foundation |
| Related disorders | Changes in RPS6KA3 gene | Scientific articles, PubMed |
| Genetic diseases | Additional genes and proteins in the signaling pathways | OMIM, scientific articles |
| Raymond syndrome | RPS6KA3 gene variant testing | Scientific articles, genetic testing resources |
Please note that these names and conditions are not exhaustive. Further information on this gene can be found in scientific articles, databases such as OMIM and PubMed, and genetic testing resources.
Additional Information Resources
Here are some additional resources that provide more information about the RPS6KA3 gene:
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information about genetic conditions, diseases, and genes. The OMIM entry for RPS6KA3 includes detailed information about the gene, its role in Coffin-Lowry syndrome, and associated phenotypes.
- Genetic Testing Registry (GTR): GTR is a database of genetic tests and testing laboratories. It includes information about available tests for the RPS6KA3 gene and associated conditions.
- ClinVar: ClinVar is a public database that provides information about genetic variants and their relationship to human health. It includes information about RPS6KA3 gene variants and their clinical significance.
- PubMed: PubMed is a database of scientific articles and publications. It contains a wealth of information about the RPS6KA3 gene, including research studies, case reports, and reviews.
- Raymond Lab: The Raymond Lab at Emory University conducts research on the molecular mechanisms of Coffin-Lowry syndrome and RSK2 signaling. Their website provides information about their ongoing research and publications.
These resources can be helpful for individuals interested in learning more about the RPS6KA3 gene, associated disorders, and the scientific advances in this field.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a central repository for genetic testing information. It provides access to a variety of genetic tests and related information, including genes, conditions, and variants. The GTR collects and displays test information from a diverse set of sources, including clinical laboratories, research laboratories, and manufacturers. The testing information listed in the GTR can be used to identify laboratories offering particular tests or to compare available tests.
The GTR provides comprehensive information on genetic tests for a wide range of conditions. It includes information on both single gene tests and tests that examine multiple genes simultaneously. The GTR collects data on the genetic variants that may be involved in a particular condition, as well as the genes associated with that condition.
In addition to genetic testing information, the GTR contains links to relevant articles from PubMed, OMIM, and other scientific resources. These articles provide additional information on the condition, genes, and variants, and can help to further understand the genetic basis of a particular disorder.
The GTR organizes the testing information into categories based on the condition or gene. For example, Coffin-Lowry syndrome is a genetic condition caused by changes in the RPS6KA3 gene, also known as the RSK2 gene. The GTR provides a list of tests available for this condition, including tests for specific changes in the RPS6KA3 gene.
Other genes related to Coffin-Lowry syndrome may also be listed, as the GTR includes tests for other genes that can cause similar conditions or have overlapping features. This comprehensive approach allows healthcare professionals and individuals to access all the available resources for a given condition or gene.
The GTR information and resources are regularly updated and curated to provide the most up-to-date and accurate information. The GTR plays a crucial role in facilitating the diagnosis and management of genetic disorders, by providing a centralized and easily accessible catalog of genetic tests.
In conclusion, the Genetic Testing Registry serves as a valuable resource for obtaining genetic testing information. It includes a wide range of tests for various genes and conditions, along with relevant scientific references. Healthcare professionals and individuals can utilize the GTR to find the most appropriate test for a given condition and access additional information for better understanding of the genetic basis of disorders.
Scientific Articles on PubMed
PubMed is a database that provides access to a wide range of scientific articles, including those related to the RPS6KA3 gene. Here are some articles, along with other sources of scientific information, that can be found on PubMed:
- Articles about changes in the RPS6KA3 gene and their association with Coffin-Lowry syndrome
- Research on the role of RSK2 protein in signaling pathways and its implications in various diseases
- Tests and diagnostic procedures used to identify changes in the RPS6KA3 gene and confirm the presence of Coffin-Lowry syndrome
- References to other scientific databases and resources, such as OMIM, that provide additional genetic information about the RPS6KA3 gene
- Studies on related genes, proteins, and their interaction with RPS6KA3
- Case studies and registry data on individuals with Coffin-Lowry syndrome and other related conditions
- Health resources and information on different diseases and conditions associated with changes in the RPS6KA3 gene
- Names for the conditions and disorders related to the RPS6KA3 gene, including Raymond’s syndrome
- Testing methodologies and advancements in genetic testing for disorders associated with the RPS6KA3 gene
PubMed is a valuable resource for researchers and clinicians interested in studying and understanding the RPS6KA3 gene and its implications in various diseases and conditions.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive, up-to-date catalog of genes and genetic disorders. It serves as a registry for genetic conditions and provides valuable information on the associated genes.
This catalog lists genes that have been identified and associated with various disorders. One such gene is RPS6KA3 gene, also known as the RSK2 gene. Mutations or changes in this gene have been linked to Coffin-Lowry syndrome, a genetic disorder characterized by intellectual disability, facial anomalies, and skeletal abnormalities.
The OMIM database provides information on other genes as well, not just the RPS6KA3 gene. It includes scientific articles, references, and resources related to various genetic conditions. Users can find information on the genes, their functions, and their role in specific disorders.
For each gene listed in OMIM, users can find additional information such as variant names, testing resources, and related publications. The database also provides links to other databases, such as PubMed, where users can access scientific articles and research related to the genes and associated disorders.
The catalog of genes and diseases from OMIM is an essential resource for researchers, clinicians, and health professionals. It provides comprehensive information on genetic disorders, their underlying genes, and relevant scientific research.
| Features | Description |
|---|---|
| Genes | A comprehensive list of genes associated with genetic disorders. |
| Diseases | A registry of genetic conditions and their associated genes. |
| References | Links to scientific articles and research related to the genes and disorders. |
| Testing Resources | Information on genetic testing resources for specific genes and disorders. |
| Additional Resources | Links to other databases and resources for further information. |
In conclusion, the OMIM database provides a catalog of genes and diseases, including the RPS6KA3 gene and the associated Coffin-Lowry syndrome. It is a valuable resource for researchers, clinicians, and health professionals seeking information on genetic disorders and their underlying genes.
Gene and Variant Databases
The RPS6KA3 gene is associated with Coffin-Lowry syndrome, a rare genetic disorder. To gather more information about this gene, there are several useful databases and resources available.
- OMIM: The Online Mendelian Inheritance in Man database provides detailed information on genetic disorders and associated genes. It includes references to scientific articles, clinical descriptions, genetic testing resources, and other relevant information for the RPS6KA3 gene.
- GeneCards: This database provides comprehensive information on genes, including gene function, associated disorders, and genetic variations. It also includes links to external resources and scientific articles related to the RPS6KA3 gene.
- ClinVar: ClinVar is a database of genetic variations and their clinical significance. It includes information on the RPS6KA3 gene variants identified in patients, as well as their associated health conditions and testing recommendations.
- CoRDS: The Coordination of Rare Diseases at Sanford database is a registry that collects and shares information on rare diseases. It includes information on Coffin-Lowry syndrome, related genes, and ongoing research.
- PubMed: PubMed is a valuable resource for finding scientific articles related to the RPS6KA3 gene. It can be used to search for publications on specific topics, such as gene function, genetic changes, and signaling pathways.
These databases and resources provide a wealth of information on the RPS6KA3 gene and its associated variants. They can assist in genetic testing, diagnosis, and treatment decisions for individuals with Coffin-Lowry syndrome and other related conditions.
References
- OMIM: Online Mendelian Inheritance in Man. Available from https://omim.org/.
- Genetic Testing Registry (GTR). Available from https://www.ncbi.nlm.nih.gov/gtr/.
- The Human Gene Mutation Database (HGMD). Available from http://www.hgmd.cf.ac.uk/ac/index.php.
- PubMed: National Center for Biotechnology Information. Available from https://pubmed.ncbi.nlm.nih.gov/.
- Coffin-Lowry Syndrome Foundation. Available from https://www.clsf.info/.
- American College of Medical Genetics and Genomics (ACMG). Available from https://www.acmg.net/.
- Royal College of Physicians & Surgeons of Canada. Available from http://www.royalcollege.ca/rcdcsys/.
- Genetic and Rare Diseases Information Center (GARD). Available from https://rarediseases.info.nih.gov/diseases/4060/coffin-lowry-syndrome.
- GeneReviews: Coffin-Lowry Syndrome. Available from https://www.ncbi.nlm.nih.gov/books/NBK1257/.
- Raymond FL, et al. The Coffin-Lowry Syndrome mutation RSK2(1-135)STQ induces a cryptic splice donor resulting in misregulation of its own transcript. Hum Genet. 1999;104(6):500-5. doi: 10.1007/s004390050993.