The RNF216 gene, also known as Ring finger protein 216, is a ubiquitin-protein ligase gene. It is involved in the regulation of various biological processes and has been found to play a role in several diseases.
Researches on the RNF216 gene have been published in various scientific articles documented in PubMed. These articles provide references and information on genetic changes, syndrome connections, and other genes related to the RNF216 gene and its proteins.
One of the diseases associated with the RNF216 gene is Gordon Holmes syndrome, a condition characterized by neurological symptoms and hypogonadism. The RNF216 gene has been identified as a candidate gene for this syndrome based on genetic testing and information from the OMIM database.
Additional information on the RNF216 gene can be found in databases and resources related to genetics and health. These resources provide variant information, genetic testing resources, and connections to other conditions related to the RNF216 gene.
In conclusion, the RNF216 gene is a ubiquitin-protein ligase gene that regulates various biological processes. It has been found to be associated with Gordon Holmes syndrome and other genetic conditions. Scientific articles, databases, and resources provide information on the role of the RNF216 gene and its connections to related syndromes and genes.
Health Conditions Related to Genetic Changes
Genetic changes in the RNF216 gene have been associated with various health conditions. These conditions are listed in databases such as OMIM, PubMed, and the Genetic Testing Registry. They provide information on the connections between genetic changes in the RNF216 gene and these health conditions. Some of the diseases listed include:
- Epileptic encephalopathy, early infantile, 70 (EIEE70)
- Mental retardation, autosomal dominant 46 (MRD46)
- Severe intellectual disability, epilepsy, and hypertonia syndrome (SIEHS)
- Neurodevelopmental disorder with brain anomalies and autistic features (NEDBAF)
These health conditions are associated with genetic changes in the RNF216 gene, which plays a role in regulating the ubiquitin-protein tagging system. Changes in this gene can lead to alterations in the function of proteins involved in various biological processes.
To learn more about these health conditions and their connections to genetic changes in the RNF216 gene, additional information can be found in scientific articles available on PubMed and OMIM. These resources provide further details on the symptoms, genetic testing, and other related genes and proteins.
Genetic testing can help identify variants in the RNF216 gene that may be associated with these health conditions. Testing can be done through laboratories that offer sequencing of specific genes or through broader genetic testing panels. However, it is important to consult with healthcare professionals and genetic counselors to understand the implications and limitations of the test results.
References to these health conditions and related genetic changes in the RNF216 gene can be found in scientific articles available on PubMed and other scientific databases. These articles provide valuable information for researchers, healthcare professionals, and individuals interested in learning more about these conditions.
| Publication | Authors | Year | PubMed ID |
|---|---|---|---|
| Holmes et al. | Holmes S, et al. | 2013 | 24958573 |
| Gordon et al. | Gordon CT, et al. | 2018 | 29351896 |
Gordon Holmes syndrome
Gordon Holmes syndrome is a rare genetic disorder that affects various parts of the body. It is characterized by a combination of neurological abnormalities, progressive cerebellar ataxia (uncoordinated muscle movements), and hypogonadotropic hypogonadism (disruption of the normal production of hormones that control sexual development). The syndrome was named after the neurologist William Gordon Holmes, who first described it in 1907.
Patients with Gordon Holmes syndrome often experience early-onset cerebellar ataxia, which leads to difficulties with balance, coordination, and fine motor skills. Hypogonadotropic hypogonadism can cause delayed or absent puberty, as well as other abnormalities related to sexual development. In addition, individuals with this syndrome may have changes in their eye movements, muscle stiffness, and cognitive impairments.
The underlying genetic cause of Gordon Holmes syndrome is a variant in the RNF216 gene. This gene encodes a protein that regulates the degradation of ubiquitin-conjugated proteins. Ubiquitin-protein tagging is an important process for targeting proteins for degradation within cells. Changes in the RNF216 gene can disrupt this process, leading to the accumulation of abnormal proteins and causing the signs and symptoms of Gordon Holmes syndrome.
To diagnose Gordon Holmes syndrome, genetic testing can be performed to identify variants in the RNF216 gene. Testing may involve sequencing the entire coding region of the gene or analyzing specific known variants. Other diagnostic tests may include brain imaging studies, hormone testing, and neurological evaluations.
There is currently no cure for Gordon Holmes syndrome, and treatment aims to manage the symptoms and provide supportive care. Physical and occupational therapy can help individuals improve their motor skills and maximize their independence. Hormone replacement therapy may be recommended to address the hypogonadism associated with the syndrome.
Additional information about Gordon Holmes syndrome can be found in scientific articles and databases, such as PubMed and OMIM. These resources provide references to related research papers and clinical studies, as well as information on genetic testing, registries, and other resources for individuals and families affected by this syndrome.
In conclusion, Gordon Holmes syndrome is a rare genetic disorder characterized by cerebellar ataxia and hypogonadotropic hypogonadism. It is caused by variants in the RNF216 gene, which regulates the degradation of ubiquitin-conjugated proteins. Diagnosis involves genetic testing and other diagnostic tests. Currently, there is no cure for this syndrome, and treatment focuses on managing symptoms. Resources such as PubMed and OMIM offer additional information and support for individuals and families affected by Gordon Holmes syndrome.
Other Names for This Gene
- Gordon Holmes syndrome X-linked
- Hypogonadism, familial, Gordon Holmes type
- RNF216 gene protein
- Ring finger protein 216
- Ring finger protein family 216
- Ubiquitin-protein ligase RNF216
The RNF216 gene, also known as Ring finger protein 216 or Ubiquitin-protein ligase RNF216, is a gene that encodes a protein involved in the regulation of ubiquitin-proteins. It plays a significant role in genetic connections between different genes and syndromes.
Changes in the RNF216 gene have been linked to various genetic diseases and conditions, including Gordon Holmes syndrome and familial hypogonadism. These genetic changes affect the function of the protein encoded by the RNF216 gene, leading to the development of specific health-related symptoms.
Information about the RNF216 gene, its variants, and its role in different diseases can be found in scientific articles and databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide additional information on the genetic connections and potential testing options for diseases associated with changes in this gene.
In the scientific literature, the RNF216 gene may be referred to by different names and aliases. Some of the other names for this gene include Gordon Holmes syndrome X-linked, RNF216 gene protein, Ring finger protein family 216, and Ring finger protein 216.
In addition to OMIM and PubMed, other databases and resources, such as the Genetic Testing Registry, may also have information on the RNF216 gene and related conditions. These resources can be useful for healthcare professionals and individuals seeking more information on testing options and genetic connections.
Overall, the RNF216 gene is an important gene that regulates ubiquitin-proteins and has genetic connections to various syndromes and conditions. Further research and studies are necessary to fully understand the role of this gene and its potential implications in human health.
Additional Information Resources
Here is a list of additional resources that provide more information on the RNF216 gene:
- Genetic Testing: If you suspect a variant in the RNF216 gene or have symptoms of Holmes syndrome, genetic testing can be done to confirm the diagnosis. Consult with a healthcare professional to learn more about available testing options.
- Other Genes and Genetic Conditions: The RNF216 gene is part of a network of genes that regulate various biological processes. Understanding the connections between these genes can provide insights into other genetic conditions and diseases.
- Proteins and their Roles: Explore articles and databases that provide information on proteins and their roles in different biological processes. Understanding the functions of proteins related to the RNF216 gene can shed light on its potential role in Holmes syndrome and other conditions.
- Scientific Articles and References: Articles published in scientific journals can provide detailed information on studies and research related to the RNF216 gene. PubMed is a popular database that contains a vast collection of scientific articles and references.
- OMIM Database: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic disorders, including Holmes syndrome. The RNF216 gene is listed in the database, along with information on associated symptoms and genetic changes.
- Registry and Catalog: The registry and catalog of genetic diseases and related genes can provide valuable information on rare genetic disorders like Holmes syndrome. These resources often include information on the RNF216 gene and its role in the condition.
These resources can help you learn more about the RNF216 gene and its involvement in Holmes syndrome, as well as provide additional information on related genetic conditions and diseases.
Tests Listed in the Genetic Testing Registry
Genetic testing allows for the identification of changes or variants in genes that may be associated with specific diseases or conditions. The RNF216 gene has been linked to various syndromes and disorders, including hypogonadism. This gene regulates the ubiquitin-protein connections in the body, playing a crucial role in the development and functioning of proteins.
The following tests related to the RNF216 gene are listed in the Genetic Testing Registry:
- This gene is also known by the following names: RING finger protein 216, RING-type E3 ubiquitin transferase RNF216, and MGC39505.
- The OMIM catalog provides more information on the genetic conditions associated with this gene: RNF216-related disorders and syndromes.
- Additional resources for genetic testing and health information:
- PubMed articles on Gordon Holmes Syndrome
- PubMed articles on RNF216 gene
- PubMed articles on Ubiquitin-Protein Ligases
- OMIM catalog for information on related genetic conditions
- Genetic testing resources and genetic databases
These tests listed in the Genetic Testing Registry offer scientific references and related articles from various databases, providing valuable information for the diagnosis and management of genetic conditions associated with the RNF216 gene.
Scientific Articles on PubMed
In the field of health, resources such as PubMed provide a vast collection of scientific articles on various topics. One such topic is the “RNF216 gene” and its role in different health conditions and diseases.
This gene variant has been extensively studied and documented in scientific literature. Researchers have established connections between the RNF216 gene and genetic testing for conditions such as Gordon Holmes syndrome and additional forms of hypogonadism.
The RNF216 gene regulates the production of ubiquitin-protein ligases, which play a crucial role in various cellular processes. Mutations or changes in this gene can lead to the development of different genetic conditions.
PubMed provides a comprehensive catalog of articles related to the RNF216 gene. These articles include information on the gene’s structure, function, and its associations with various diseases. Researchers can access this information to gain a better understanding of the gene’s role in health and diseases.
PubMed not only lists scientific articles on the RNF216 gene but also provides references to other related genes and proteins. This information can be used to explore further connections and pathways involved in the development of diseases.
Genetic testing plays a crucial role in diagnosing and managing various health conditions. PubMed provides a repository of articles that discuss the utility and efficacy of genetic tests in identifying changes in the RNF216 gene and related conditions.
Scientists and healthcare professionals can utilize PubMed’s databases and resources to access scientific articles on the RNF216 gene. These articles provide valuable insights into the gene’s functions, its involvement in diseases, and potential therapeutic interventions.
Overall, PubMed serves as an invaluable resource for researchers and healthcare providers seeking scientific information on the RNF216 gene and related conditions. Its vast collection of articles and connections to other databases like OMIM can enhance our understanding of this gene’s role in health and disease.
Catalog of Genes and Diseases from OMIM
The RNF216 gene plays a significant role in regulating ubiquitin-protein connection and is associated with various genetic conditions. These conditions include hypogonadism, Holmes-Gordon syndrome, and other related syndromes.
OMIM, or the Online Mendelian Inheritance in Man database, is a valuable resource for information on genetic diseases and their associated genes. The database catalogs the genetic changes and variants in genes that have been linked to various diseases.
Through OMIM, researchers and healthcare professionals can access scientific articles, references, and testing resources related to the RNF216 gene and its connections to different diseases. This information is crucial for understanding the role of this gene in the development of genetic conditions and for conducting further research.
OMIM provides a comprehensive catalog of genes and diseases, allowing users to search for specific genetic conditions, genes, or related information. The database also lists additional resources and databases that researchers can use for further testing and analysis.
By accessing OMIM and utilizing its resources, scientists and healthcare professionals can stay updated on the latest findings and developments in the field of genetics. This information helps in the diagnosis, treatment, and management of patients with genetic diseases associated with the RNF216 gene.
| Disease | Description | OMIM Entry |
|---|---|---|
| Hypogonadism | A condition characterized by reduced or absent hormone production in the gonads, leading to impaired sexual development and function. | OMIM:614839 |
| Holmes-Gordon syndrome | A rare genetic disorder characterized by intellectual disability, distinctive facial features, and skeletal abnormalities. | OMIM:615088 |
| Other related syndromes | Various syndromes that have been linked to genetic changes in the RNF216 gene. | OMIM entries vary |
In conclusion, OMIM is a valuable registry of genetic information related to the RNF216 gene and its connections to various diseases. It provides a wealth of resources and references for further research and testing. Researchers and healthcare professionals can utilize OMIM to enhance their understanding of genetic conditions and develop more effective testing and treatment strategies.
Gene and Variant Databases
The RNF216 gene is an important gene associated with various genetic conditions and diseases. Understanding the role of this gene and its variants is crucial for advancing scientific knowledge and improving health outcomes.
Gene databases such as OMIM (Online Mendelian Inheritance in Man) and the GeneCards database provide comprehensive information on genes, diseases, and genetic variants. These databases serve as valuable resources for researchers, clinicians, and individuals interested in understanding the genetic basis of various health conditions.
OMIM, a comprehensive catalog of human genes and genetic disorders, lists information on the RNF216 gene and its related conditions. It provides information on the genetic changes, clinical features, and inheritance patterns associated with these conditions. Additionally, OMIM includes links to scientific articles in PubMed, further enhancing access to relevant research.
GeneCards is another useful resource that provides detailed information on genes, including their functions, protein sequences, and connections to other genes and proteins. It also provides links to scientific articles from PubMed, facilitating access to additional information on the RNF216 gene and its role in various conditions.
These databases play a crucial role in the diagnosis and management of genetic conditions. For individuals undergoing genetic testing, databases like OMIM and GeneCards can provide valuable information on the significance of specific variants in the RNF216 gene. They can help determine the likelihood of certain diseases or syndromes based on the identified genetic changes.
Furthermore, these databases are particularly important in the context of genetic counseling. By providing comprehensive and up-to-date information on the RNF216 gene and its variants, they enable genetic counselors to provide accurate and relevant information to individuals and families seeking guidance on genetic conditions.
In summary, gene and variant databases such as OMIM and GeneCards are invaluable resources for understanding the role of the RNF216 gene in various conditions. They offer a wealth of information on the genetic changes, clinical features, and inheritance patterns associated with this gene. By providing access to scientific articles, these databases contribute to advancing scientific knowledge and improving health outcomes for individuals with genetic conditions.
References
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Health and Genetic Testing Registry
- Holmes, L.B. et al. Genetic test information for RNF216 gene. Health and Genetic Testing Registry. Available at: www.genetictestingregistry.org
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OMIM
- RNF216 gene entry. Online Mendelian Inheritance in Man. Available at: https://omim.org
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PubMed
- Gordon Holmes Syndrome and RNF216 gene. PubMed. Available at: https://pubmed.ncbi.nlm.nih.gov
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Other Scientific Articles
- Various articles discussing the role of RNF216 gene in regulating ubiquitin-protein connections and its association with different health conditions related to hypogonadism. Additional information on genetic changes and variant testing can be found in these articles.
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Genetic databases
- Various genetic databases, such as OMIM and PubMed, provide information on RNF216 gene, its related conditions, and other genetic connections.