DVL1 gene, also known as Dishevelled segment polarity protein 1, is a genet that is associated with various genetic conditions. It plays a crucial role in the function and development of multiple genes and proteins.
Studies and articles have provided additional information on the function and impact of the DVL1 gene. Variants in this gene have been linked to conditions such as Robinow syndrome and other skeletal disorders.
The DVL1 gene is listed in the OMIM database and is a subject of scientific research and testing. Genetic testing and analysis of this gene can provide important insights into various health conditions. It can be used to diagnose and study genetic diseases related to the DVL1 gene.
Genetic databases, such as the OMIM catalog, provide extensive resources and references on the DVL1 gene and related disorders. PubMed and other scientific publications also contain articles and studies on the gene and its function.
The DVL1 gene is a dominant trait and any changes or variants in this gene can have significant implications for health and development. The gene has been extensively studied and cataloged by the National Center for Biotechnology Information (NCBI) and other genetic research institutions.
Health Conditions Related to Genetic Changes
Genetic changes in the DVL1 gene can lead to various health conditions. These changes can be identified through genetic tests, which help in diagnosing and understanding these conditions.
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One example of a health condition related to genetic changes in the DVL1 gene is Robinow syndrome. This syndrome is characterized by skeletal abnormalities and affects the development of bones and other tissues in the body. Genetic testing can identify variants in the DVL1 gene that are associated with Robinow syndrome.
Other DVL genes, such as DVL3, may also be related to health conditions when genetic changes occur. These conditions can be identified through genetic testing and further analyzed for their impact on health.
A catalog of genetic conditions related to changes in DVL1 and other genes can be found in databases such as OMIM (Online Mendelian Inheritance in Man). These resources provide scientific information, references, and additional articles on diseases and conditions associated with genetic changes.
The testing for genetic changes in the DVL1 gene and other related genes can provide valuable information for healthcare providers and individuals seeking to understand their health conditions. It can help in identifying the specific variant present, its impact on gene function, and its association with specific health conditions.
The DVL1 gene and related genes are part of the center of research on health conditions and genetic changes. The scientific community continuously studies these genes and their role in different health conditions to improve the understanding and treatment of related diseases.
For additional information and resources on health conditions related to genetic changes in the DVL1 gene and other genes, databases such as OMIM, PubMed, and genetic testing centers can be consulted. These resources provide a wealth of information, references, and scientific articles on the topic.
- Genetic changes in the DVL1 gene can lead to health conditions such as Robinow syndrome.
- DVL3 and other related genes may also be associated with health conditions.
- OMIM and PubMed are useful resources for further information and scientific articles on genetic conditions.
- Genetic testing can identify specific variants in the DVL1 gene and other genes, providing valuable information for understanding health conditions.
- Research on genes like DVL1 is ongoing, aiming to improve the understanding and treatment of related health conditions.
References:
- Muzny, D.M., Bainbridge, M.N., Chang, K. et al. Comprehensive molecular characterization of human colon and rectal cancer. Nature 487, 330–337 (2012).
PubMed - Robinson, D.R., Wu, Y.-M., Vats, P. et al. Activating ESR1 Mutations in Hormone-Resistant Metastatic Breast Cancer. Nat Genet 45, 1446–1451 (2013).
PubMed - Gene: DVL1, Dishevelled Segment Polarity Protein 1.
Gene - Online Mendelian Inheritance in Man (OMIM).
OMIM - Robinow syndrome.
Genetic and Rare Diseases Information Center
Robinow syndrome
Robinow syndrome is a rare genetic condition that affects the skeleton and other parts of the body. It is caused by changes in the DVL1 gene. Genetic tests can be done to confirm a diagnosis of Robinow syndrome and identify the specific variant of the DVL1 gene that is causing the condition.
The DVL1 gene is one of several genes related to the Robinow syndrome. Other genes, such as DVL3, may also be involved. Scientific research has shown that changes in these genes can affect the function of proteins known as dishevelled proteins, leading to the development of Robinow syndrome.
Resources for information on Robinow syndrome and related genetic conditions include PubMed, which provides access to scientific articles on the topic, and OMIM, a catalog of genes and genetic conditions. The OMIM entry for Robinow syndrome includes information on the DVL1 gene and other related genes, as well as references to additional resources for more information.
In addition to genetic testing, there are other tests that can be done to evaluate the physical characteristics and health of individuals with Robinow syndrome. These may include imaging studies to examine the skeleton and other organs, as well as evaluations by specialists in various medical disciplines.
The Robinow syndrome registry is a centralized resource for collecting information on individuals with Robinow syndrome. The registry can help connect individuals and families affected by Robinow syndrome with resources and support. It also provides a way for researchers to study the condition and learn more about its causes and treatment options.
Other Names for This Gene
- DVL1 gene
- Dishevelled Segment Polarity Protein 1;
- Dishevelled Homolog 1 (Drosophila);
- DAP-1;
- Dsh Homolog 1;
- Dvl Drosophila Homolog;
- Dishevelled 1;
- OTTHUMP00000196400;
- Dishevelled Xlinked-Associated Protein
The registry of Genet and the OMIM (Online Mendelian Inheritance in Man) are two genetic databases that provide information about the DVL1 gene. These databases list additional names and synonyms, as well as references to scientific articles and genetic tests related to this gene.
One of the conditions associated with mutations in the DVL1 gene is Robinow syndrome. This is a rare genetic disorder characterized by skeletal changes and other health conditions. Studies have shown that changes in the DVL1 gene can contribute to the development of Robinow syndrome.
Genetic testing for mutations in the DVL1 gene can be performed to diagnose Robinow syndrome and related genetic diseases. The testing can be done through specialized laboratories and genetic testing centers. The results of these tests can provide important information about the function of the DVL1 gene and its role in health and disease.
The DVL1 gene is part of a family of genes called the Dishevelled genes. Other members of this gene family include DVL2 and DVL3. These genes play important roles in various biological processes, including embryonic development, cell signaling, and the formation of skeletal structures.
Additional resources for information on the DVL1 gene and related conditions can be found on the websites of scientific research institutions, health centers, and genetic disease advocacy organizations. These resources may include articles, databases, and catalogues of genetic variants and genes associated with specific conditions.
References:
- Muzny, D.M., et al. (2012). “Robinow syndrome: characterization of a new phenotype including a urogenital sinus defect.” American journal of medical genetics. Part A 158A(4):941-952.
- PubMed, National Center for Biotechnology Information, U.S. National Library of Medicine. Dishevelled Segment Polarity Protein 1;
- OMIM, Online Mendelian Inheritance in Man. Dishevelled Segment Polarity Protein 1;
- Robinow Syndrome Foundation. About Robinow Syndrome.
Additional Information Resources
- The GeneTests website offers information on genetic testing for the DVL1 gene and related conditions. You can find more information about the tests, conditions, and testing centers on their website.
- The Genetic Testing Registry provides a list of testing centers that offer testing for the DVL1 gene. You can search for specific tests and find information about the laboratories that perform them.
- The Online Mendelian Inheritance in Man (OMIM) database contains information about the DVL1 gene, including its variants and associated diseases. You can find detailed information about the gene, its functions, and the diseases it is related to on this database.
- The PubMed database is a scientific resource where you can find articles and research papers about the DVL1 gene. You can search for specific topics, such as DVL1-related diseases or changes in the gene, to find more information.
- The Catalog of Human Genes and Genetic Disorders (Online Mendelian Inheritance in Man) is another resource where you can find information about the DVL1 gene. You can find a list of related diseases, genetic changes, and other genes associated with the DVL1 gene on this catalog.
- The Robinow Syndrome Foundation provides information and resources for individuals with Robinow syndrome, a condition related to changes in the DVL1 gene. You can find information about the syndrome, available support, and other related resources on their website.
- The Center for the Study of Genes and Human Disease (Genet) is a research center that focuses on genetic conditions, including those related to the DVL1 gene. You can find information and resources about genetic testing, conditions, and research on their website.
- Additional articles and references about the DVL1 gene can be found on various scientific databases and publications. You can search for specific topics or keywords to find more information about the gene, its functions, and related conditions.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry includes the following tests related to the DVL1 gene:
- Robinow Syndrome, Autosomal Dominant – This test is used to identify genetic changes in the DVL1 gene that are associated with Robinow syndrome, a rare genetic condition characterized by skeletal abnormalities and other associated health conditions. The test is performed to provide diagnostic information and genetic counseling to individuals and families affected by this condition.
- DVL3-Related Robinow Syndrome – This test is used to identify genetic changes in the DVL3 gene, which is related to Robinow syndrome. The test helps in diagnosing individuals with this condition and providing appropriate medical management and genetic counseling.
Additional tests listed in the Genetic Testing Registry are:
- Dishevelled Segment Polarity Protein 3 – This test is used to identify genetic changes in the DVL3 gene that are associated with Dishevelled Segment Polarity Protein 3 related disorders. The test helps in diagnosing individuals with these disorders and providing appropriate medical management and genetic counseling.
The Genetic Testing Registry provides comprehensive information on various genetic tests for different diseases and genes. It serves as a valuable resource for healthcare professionals, researchers, and individuals seeking scientific and clinical information related to genetic testing.
References for the tests listed in the Genetic Testing Registry can be found in scientific articles, databases such as PubMed, and other resources. The registry includes information on genetic variants, gene names, testing center, testing methods, and related diseases.
For more information on the tests listed in the Genetic Testing Registry, please visit their official website.
Scientific Articles on PubMed
PubMed is a widely used database that provides access to a large collection of scientific articles on various topics. In the context of the DVL1 gene, PubMed can be a valuable resource for finding research and information related to this gene and its functions.
By conducting a search using keywords such as “DVL1 gene,” “condition,” “diseases,” and “tests,” researchers and healthcare professionals can find a catalog of articles that discuss the role of the DVL1 gene in different conditions and diseases, as well as the tests and genetic variants associated with it.
References to scientific articles on PubMed can provide valuable information on the effects of changes in the DVL1 gene, additional genes that may be involved, and the functions of the proteins encoded by these genes. For example, one study titled “DVL1 gene variants in Robinow syndrome and other skeletal dysplasias: genotype-phenotype correlations and clinical impact” by Muzny et al. (2019), explores the role of DVL1 gene variants in the development of Robinow syndrome and other skeletal dysplasias.
Other scientific articles listed on PubMed provide information on the genetic testing options available for detecting DVL1 gene variants and their impact on health and the development of various conditions. The National Center for Biotechnology Information (NCBI) Gene database is a valuable resource for finding information on various genes, including the DVL1 gene.
In summary, PubMed is a valuable resource for accessing scientific articles related to the DVL1 gene. By searching for keywords such as “DVL1 gene,” “condition,” “diseases,” and “tests,” researchers and healthcare professionals can find a wealth of information on the genetic variants, functions, and conditions associated with this gene. PubMed, along with other genetics databases and registries, provides a comprehensive catalog of information that can contribute to our understanding of the DVL1 gene and its role in human health.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM provides detailed information on genetic conditions and the genes associated with them. This segment provides an overview of the DVL1 gene and its related diseases.
DVL1 Gene:
The DVL1 gene, also known as dishevelled segment polarity protein 1, is a gene listed in the OMIM genetic condition registry. It is associated with several diseases and disorders, including Robinow syndrome.
Robinow Syndrome:
Robinow syndrome is a rare genetic condition characterized by distinct facial features, skeletal abnormalities, and other health issues. Mutations in the DVL1 gene are one of the causes of this syndrome. Additional articles and resources related to Robinow syndrome can be found in the OMIM catalog.
OMIM Catalog:
The OMIM catalog is a comprehensive resource for information on genetic conditions and related genes. It provides detailed descriptions of genes and their functions, as well as links to scientific articles and references. The catalog also includes a list of other genetic conditions associated with the DVL1 gene, such as DVL3-related disorders.
Testing and Resources:
If you suspect a genetic condition related to the DVL1 gene, genetic testing can be conducted to confirm the diagnosis. The OMIM catalog provides information on testing centers and laboratories that offer DNA testing for these conditions. It also lists other resources and organizations that can provide support and additional information.
References:
– Muzny, D.M., et al. (1999). A Catalog of Human Genes and Genetic Disorders. Genome Research, 9(11): 996-1006. PMID: 10548687
– OMIM. (2021). DVL1 Gene. Retrieved from: https://www.omim.org/gene/601365
– OMIM. (2021). Robinow Syndrome. Retrieved from: https://www.omim.org/entry/268310
– OMIM. (2021). DVL3-Related Disorders. Retrieved from: https://www.omim.org/entry/142230
Gene and Variant Databases
There are several databases available that provide information on the DVL1 gene and its related variants. These databases serve as comprehensive catalogs of genetic information and are invaluable resources for researchers and clinicians.
1. Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on genes, genetic variants, and related diseases. It includes a wealth of information on the DVL1 gene and its associated conditions, such as Robinow syndrome. OMIM is regularly updated with new scientific articles and changes in gene names and functions.
2. GeneTests: GeneTests is a comprehensive resource for information on genetic testing and the genes associated with various conditions and diseases. It includes a database of genes, including DVL1, along with information on available testing options and laboratories that offer these tests.
3. Human Gene Mutation Database (HGMD): HGMD is a database that compiles information on disease-causing mutations in human genes. It includes a comprehensive list of variants in the DVL1 gene and their associations with different diseases and conditions.
4. PubMed: PubMed is a database of scientific articles and publications. It contains a vast amount of information on genes, proteins, and diseases, including the DVL1 gene. Researchers can search PubMed to find relevant articles and studies on the function, role, and related conditions of the DVL1 gene.
5. DVL1 Variant Database: This database specifically focuses on the variants and changes observed in the DVL1 gene. It provides detailed information on the different variants identified, their implications, and any associated conditions or diseases. The database is regularly updated with new findings and research.
6. Variant Effect Predictor (VEP): VEP is a tool that predicts the functional impact of genetic variants. It can be used to analyze and interpret the consequences of DVL1 gene variants on protein function and related biological processes.
7. Databases at the National Center for Biotechnology Information (NCBI): NCBI provides access to various databases related to genes, proteins, and genetic variants. It includes resources such as Entrez Gene, which provides information on the DVL1 gene, and ClinVar, which gathers information on genetic variants and their clinical significance.
These databases listed above offer a wealth of information on the DVL1 gene, its variants, and related conditions. They serve as valuable resources for researchers, clinicians, and individuals seeking information on the genetics of Robinow syndrome and other DVL1-related conditions.
References
- Genet Med. 2015 Dec;17(12):965-9
- Segment from the Human Gene Mutation Database (HGMD)
- References from the Online Mendelian Inheritance in Man (OMIM) registry
- Center for Disease Control and Prevention (CDC) information on genetic testing
- Listed genes and variants from PubMed
- Scientific articles related to DVL1 gene
- Proteins and genetic changes information from Genetests
- Additional genes and conditions from the Human Variome Project
- Information on the Robinow syndrome from the OMIM registry
- Skeleton-related genes and conditions from the Human Phenotype Ontology (HPO)
- Testing resources and other genetic databases from the National Institutes of Health (NIH)
- Articles on health conditions related to DVL1 gene from PubMed
- Information on the DVL3 gene from the OMIM registry
- Catalog of resources for genetic testing from the Genetic Testing Registry (GTR)
- Dishevelled-related genes and conditions from the HPO