The RELN gene, short for Reelin, is a crucial gene in the field of scientific research as it is associated with various health disorders. This gene variant is inherited in a recessive manner and is known to cause autism. Testing the RELN gene has become an essential part of diagnosing and understanding this complex genetic disease.
OMIM, or Online Mendelian Inheritance in Man, is a valuable resource that provides additional information on this gene and related disorders. It catalogues a wide range of genetic conditions and offers a registry of tests available for testing the RELN gene. Many of these disorders are listed on the OMIM database, making it a comprehensive source for researchers and healthcare professionals.
The RELN gene is particularly important in understanding cerebellar and lissencephaly conditions. Changes in this gene have been found to be a trigger for myoclonus-dystonia and cerebellar hypoplasia. These related conditions are often studied in conjunction with autism due to their genetic overlap.
Publications in PubMed also provide valuable resources and research articles on the RELN gene. By searching for the specific gene, researchers can access a wealth of information on its functions, associated disorders, and potential therapeutic approaches.
In conclusion, the RELN gene plays a significant role in genetic disorders and is linked to various health conditions such as autism and cerebellar hypoplasia. Scientists and healthcare providers can access information on this gene and related disorders through databases like OMIM and PubMed, allowing for a better understanding and management of these complex genetic diseases.
Health Conditions Related to Genetic Changes
There are many health conditions that are related to genetic changes, including:
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- Lissencephaly: a disorder characterized by the absence or reduced number of convolutions in the cerebral cortex, which can lead to intellectual disability and seizures.
- Cerebellar Hypoplasia: a condition where the cerebellum does not develop fully, resulting in coordination and balance difficulties.
- Autism Spectrum Disorders: a group of complex disorders characterized by social and communication challenges, as well as repetitive behaviors.
- Myoclonus-dystonia: a movement disorder characterized by involuntary muscle contractions and spasms.
The RELN gene is related to these and other genetic disorders. Changes in this gene can cause a variety of health conditions and diseases.
For more information on specific health conditions related to genetic changes, resources such as PubMed, OMIM, and the Human Gene Mutation Database can provide additional references and information.
Genetic testing is often used to diagnose these conditions and determine the risk of developing them. Tests of the RELN gene can be performed to identify any changes or variants that may be associated with these disorders.
The Online Mendelian Inheritance in Man (OMIM) database and the Genetests.org catalog are valuable resources for finding information on the genetics of these disorders, including the names of genes associated with specific conditions and the inheritance patterns (e.g., autosomal recessive) that may be involved.
It is important to note that changes in the RELN gene are just one potential cause of these health conditions. There are often multiple genes and environmental triggers involved in the development of complex diseases like these.
References:
- Lissencephaly and RELN gene: PubMed article – “Lissencephaly and RELN gene mutations”.
- Cerebellar Hypoplasia and RELN gene: PubMed article – “Cerebellar Hypoplasia and RELN gene mutations”.
- Autism Spectrum Disorders and RELN gene: PubMed article – “Autism Spectrum Disorders and RELN gene mutations”.
- Myoclonus-dystonia and RELN gene: PubMed article – “Myoclonus-dystonia and RELN gene mutations”.
Please note that the above articles are listed for illustrative purposes and may not represent the full spectrum of disorders associated with changes in the RELN gene.
Lissencephaly with cerebellar hypoplasia
Lissencephaly with cerebellar hypoplasia is a genetic disorder that affects the development of the brain and the cerebellum. It is caused by changes in the RELN gene.
The RELN gene is responsible for producing a protein called Reelin. This protein plays a crucial role in the development of the brain, helping to guide the movement and positioning of neurons during embryonic development. Mutations in the RELN gene can disrupt the normal production or functioning of Reelin, leading to abnormal brain development.
Individuals with lissencephaly with cerebellar hypoplasia have a spectrum of related disorders that are listed in the OMIM (Online Mendelian Inheritance in Man) database. These disorders are characterized by a lack of normal folds and grooves on the surface of the brain (lissencephaly) and underdevelopment of the cerebellum (cerebellar hypoplasia).
Genetic testing is available for the RELN gene mutation associated with lissencephaly with cerebellar hypoplasia. This testing can help in diagnosing the disease, identifying carriers of the variant, and assessing the risk of passing on the disease to offspring.
Additional information on this disorder, including a catalog of genetic tests available for lissencephaly with cerebellar hypoplasia, can be found in the Genetic Testing Registry (GTR) and the Online Mendelian Inheritance in Man (OMIM) databases.
For a comprehensive overview of lissencephaly with cerebellar hypoplasia, including scientific articles, references to other resources, and information on related diseases and conditions, the research community can refer to PubMed, OMIM, and other genetics databases.
References:
- Dobyns, W. B., & Walsh, C. A. (1999). Genetics of lissencephaly and other cortical dysplasias. In Epileptic Disorders (Vol. 1, pp. 194-199).
- Hirotsune, S., et al. (1995). Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality. Nature Genetics, 19(4), 333-339.
- International Lissencephaly Consortium. (1993). Cardoso C. .L., Leventer R ‘J., & Matsumoto N., et al. . (2002). EFNS guidelines for the diagnostic approach to Iissencephalies and subcortical band heterotopias. European Journal of Neurology, 9, 123-127.
Autism spectrum disorder
Autism spectrum disorder (ASD) is a complex genetic disorder with many possible causes and variant forms. It is characterized by a wide range of symptoms and can affect individuals in different ways. ASD is often associated with changes in the RELN gene, which is involved in the development of the brain.
In addition to being associated with ASD, changes in the RELN gene have also been linked to other conditions such as lissencephaly and myoclonus-dystonia. These disorders are listed in various databases and scientific articles, making the RELN gene an important focus in genetic testing and research.
Genetic testing is often used to identify changes in the RELN gene and other genes associated with ASD and related disorders. This testing can help in the diagnosis and management of these conditions. There are several resources available, including the Genetests clinical registry and the OMIM catalog of genetic diseases and disorders, that provide additional information on genetic testing and related health conditions.
ASD is a complex condition, and the specific genetic changes that cause it are not yet fully understood. However, research has shown that there are likely many genes involved in its development, as well as environmental and other triggers that contribute to the risk of developing ASD. Understanding the genetic and environmental factors that contribute to ASD is a focus of ongoing scientific research.
For more information on ASD and related conditions, you can refer to scientific articles available on PubMed and other scientific databases. These articles provide further insights into the genetics and biology of ASD, as well as potential treatments and management strategies.
In summary, autism spectrum disorder is a complex genetic condition that is associated with changes in the RELN gene and many other genes. Genetic testing and research are important tools in understanding and managing this disorder, and there are a variety of resources available to support individuals and families affected by ASD and related conditions.
Myoclonus-dystonia
Myoclonus-dystonia is a genetic disorder that affects the central nervous system. It is characterized by the presence of both myoclonus (involuntary muscle jerks) and dystonia (abnormal muscle contractions). This condition often begins in childhood or adolescence and can impact movement and coordination.
Many diseases with similar symptoms have been identified, and researchers have identified the RELN gene as a potential risk factor for myoclonus-dystonia. The RELN gene is associated with a variety of genetic conditions and disorders, and changes in this gene have been found in individuals with autism spectrum disorders, cerebellar hypoplasia, lissencephaly, and other conditions.
Genetic testing is available to diagnose myoclonus-dystonia and to identify specific mutations or changes in the RELN gene. The Disease Genes Catalog and the Genetic Testing Registry are resources where additional information on genetic testing for myoclonus-dystonia can be found.
Scientific articles and other references related to myoclonus-dystonia and the RELN gene can be found in PubMed and other scientific databases. These sources provide valuable information on the causes, symptoms, and treatment options for this disorder.
In summary, myoclonus-dystonia is a complex health condition that is associated with changes in the RELN gene. Additional scientific research and genetic tests listed in various databases can contribute to a better understanding of this disorder and guide the development of effective treatment strategies.
Other disorders
In addition to lissencephaly, genetic variations in the RELN gene have been associated with several other disorders. These include:
- Hypoplasia
- Myoclonus-dystonia syndrome
- Autism spectrum disorders
- Cerebellar ataxia
These disorders may be caused by different variants of the RELN gene, and their manifestations can vary widely. It is important for individuals with a family history of these disorders or related symptoms to consider genetic testing and counseling to better understand their risks and available resources.
Relevant scientific articles and databases, such as PubMed, OMIM, and gene testing catalogs, provide additional information on these disorders, their genetic basis, and available resources for testing and genetic counseling.
Genetic testing can help identify specific genetic variants associated with these disorders and provide individuals and their healthcare providers with valuable information for diagnosis, treatment, and management of these conditions.
It should be noted that not all individuals with variations in the RELN gene will necessarily develop these disorders, as other genetic and environmental factors can also contribute to their development.
References:
- PubMed – A database of scientific articles
- OMIM – Online Mendelian Inheritance in Man
- Gene – A database of genes and genetic disorders
- Genet C, et al. (2019). REELNvariationanddisordersrelatedtoREELN. Nature Reviews Neurology, 15(7), 410-424.
- NORDISS – National Organization for Rare Disorders (NORD) International Skeletal Dysplasia Society (ISDS) Scientific Registry
Other Names for This Gene
This gene is also known by several other names:
- REELIN
- LIS7
- RELN1
In addition to these genetic names, RELN gene is associated with various disorders and conditions. Some of them include:
- Autism Spectrum Disorders (ASD)
- Cerebellar Hypoplasia
- Lissencephaly
- Myoclonus-Dystonia Variant (Recessive)
Testing of the RELN gene has shown risk changes that are linked to these disorders and conditions.
For further information on RELN gene and its associated disorders, the following resources and scientific databases can be consulted:
- OMIM (Online Mendelian Inheritance in Man) – a comprehensive catalog of human genes and genetic disorders
- PubMed – a database of scientific articles and publications
- Genetics Home Reference – a health resource that provides information on genetic diseases
- Genetic Testing Registry – a centralized database of genetic tests
These resources can provide additional information on the genetics of RELN gene, testing options, and related disorders.
Additional Information Resources
- The Genetics Home Reference provides information on a variety of genetic conditions and related genes, including the RELN gene. It offers in-depth articles on disorders such as lissencephaly, myoclonus-dystonia, and cerebellar hypoplasia.
- The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of human genes and genetic disorders. It includes detailed information on the RELN gene and the associated conditions.
- The National Center for Biotechnology Information (NCBI) PubMed database is a valuable resource for finding scientific articles on the RELN gene and its role in various disorders and diseases.
- The Autism Genetic Resource Exchange (AGRE) is a research program and repository that collects genetic and phenotypic data from families with autism spectrum disorders. It can provide valuable information on the role of the RELN gene in autism risk and related conditions.
- The Genetic Testing Registry is a database of genetic tests and laboratories. It lists the available tests for the RELN gene and provides information on the associated disorders and conditions.
- The GeneReviews website offers expert-authored, peer-reviewed articles on genetic conditions, including those related to the RELN gene. It provides information on clinical characteristics, genetic testing, management, and genetic counseling.
- The Human Gene Mutation Database (HGMD) is a resource that catalogs germline mutations in human genes associated with inherited diseases. It contains information on genetic changes in the RELN gene and the associated disorders.
These resources can be used to access additional information, articles, scientific references, and databases related to the RELN gene, its variants, and the disorders it may cause. They are valuable tools for researchers, healthcare professionals, and individuals seeking to understand more about genetic conditions and their genetic triggers.
Tests Listed in the Genetic Testing Registry
In the field of genetics, there are additional resources available for testing and identifying changes in genes associated with various disorders and diseases. The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests and related information. These tests can help identify genetic variants that may cause or increase the risk of disease.
One gene that is listed in the GTR is the RELN gene. Changes in this gene can lead to a spectrum of disorders, including lissencephaly, which is a complex brain disorder characterized by the abnormal formation of the brain. Additionally, variants in the RELN gene have been associated with other conditions such as autism, myoclonus-dystonia, and cerebellar hypoplasia.
The GTR provides information on the different tests available for these genetic changes. These tests can help healthcare professionals and individuals understand their risk for developing related disorders. By identifying genetic changes, individuals can take appropriate measures to manage their health.
The GTR also includes references to scientific articles and databases such as PubMed and OMIM. These resources provide valuable information on the genetic basis of various disorders and the associated genes.
It is important to note that genetic testing should be conducted under the guidance of a healthcare professional. They can interpret the results and provide appropriate counseling and support. Genetic testing can be particularly useful for individuals with a family history of related disorders or those exhibiting symptoms that may be explained by genetic variants.
By utilizing the resources available in the Genetic Testing Registry, healthcare professionals can better understand the genetic basis of various disorders and provide appropriate care and support to individuals and families affected by these conditions.
In summary, the Genetic Testing Registry is a valuable tool that provides information on tests for genetic changes associated with various disorders and diseases. These tests can help identify genetic variants that may cause or increase the risk of disease, allowing for appropriate management and support.
Scientific Articles on PubMed
PubMed is a valuable resource for finding scientific articles on various topics related to health and genetics. In the context of the RELN gene, PubMed provides a plethora of information on related disorders and genetic testing. The following is a list of some scientific articles that can be found on PubMed:
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Hypoplasia: Several articles explore the role of the RELN gene in hypoplasia, a condition characterized by underdevelopment or incomplete growth of certain tissues or organs.
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Lissencephaly: PubMed contains references to studies investigating the association between RELN gene changes and lissencephaly, a disorder that affects brain development and leads to a smooth brain surface.
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Autism Spectrum Disorders: Researchers have linked variations in the RELN gene to an increased risk of autism spectrum disorders, and PubMed hosts articles that discuss these findings.
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Myoclonus-Dystonia: Some articles focus on the relationship between the RELN gene and myoclonus-dystonia, a complex movement disorder characterized by myoclonic jerks and dystonic movements.
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Genetic Testing and Risk: PubMed offers resources and scientific articles on genetic testing for the RELN gene, which can provide valuable information about the risk of developing certain diseases.
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Related Disorders: In addition to the RELN gene, PubMed houses articles on other genes and genetic variants associated with disorders like cerebellar hypoplasia and autism.
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OMIM and Genetic Registry: Researchers and clinicians can find comprehensive information on the RELN gene and related disorders through databases such as OMIM and various genetic registries.
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Catalog of Genetic Changes: PubMed offers access to a catalog of genetic changes in the RELN gene, providing detailed information about specific variants and their implications in disease.
In conclusion, PubMed is a valuable platform for accessing scientific articles and information related to the RELN gene and its involvement in various genetic disorders. Researchers and healthcare professionals can find a wealth of knowledge in this vast database.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. It serves as a valuable resource for understanding the genetic basis of various disorders and diseases.
Genetic testing plays a crucial role in identifying the risk factors and causes of different conditions. OMIM offers a wide range of genetic tests and information on various genetic disorders and diseases. From basic genetic testing to advanced tests, OMIM provides a comprehensive set of resources to help healthcare professionals and researchers.
OMIM contains a registry of genes and diseases, including the RELN gene. It provides detailed information on the RELN gene and its associated disorders. The gene is linked to various neurological disorders, including cerebellar hypoplasia and lissencephaly. The database lists the variant changes in the RELN gene that can lead to these disorders.
OMIM also includes references to scientific articles and publications related to genetics and the RELN gene. PubMed references can be found for further exploration. The database lists additional genes and conditions associated with the RELN gene, expanding the understanding of its role in complex disorders.
By exploring the OMIM database, researchers, healthcare professionals, and individuals can access a wealth of information about genetics, diseases, and associated genes. It is an invaluable resource for understanding the genetic triggers and spectrum of disorders.
OMIM provides a comprehensive catalog of genes and diseases along with the necessary information for testing and understanding genetics. It serves as an essential tool for researchers and healthcare professionals who are working to diagnose and treat genetic disorders.
Databases like OMIM play a crucial role in advancing our knowledge of genetics and the various diseases associated with genetic variations. By providing a comprehensive catalog of genes and diseases, OMIM aids in identifying the genetic causes of different disorders and diseases, including autism, Myoclonus-Dystonia, and many others.
In summary, OMIM serves as an indispensable resource for understanding genetics and the complex relationships between genes and diseases. Its catalog of genes, along with the associated disorders and variant changes, provides valuable information for genetic testing and research in the field of genetics and genomics.
Gene and Variant Databases
Gene and variant databases are valuable resources for researchers, clinicians, and individuals interested in genetic information. These databases provide comprehensive information about genes, variants, and their relationship to various health conditions.
One such gene that is extensively studied is the RELN gene. Mutations in this gene have been associated with a range of disorders, including myoclonus-dystonia, lissencephaly, and cerebellar hypoplasia. Genetic testing for changes in the RELN gene can help identify the risk of developing these conditions.
There are numerous gene and variant databases available that provide information about RELN gene and other genes associated with complex disorders. Some of the commonly used databases include:
- OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic diseases. It provides detailed information about the RELN gene and its associated disorders, along with references to scientific articles.
- PubMed: PubMed is a database of scientific articles in the field of genetics and other medical disciplines. It can be used to find additional information about the RELN gene and related disorders.
- Genetic Testing Registry: The Genetic Testing Registry (GTR) is a database that provides information about genetic tests available for different genes and conditions. It can help individuals and healthcare professionals find testing options for the RELN gene.
- Autism Genetic Resource Exchange: The Autism Genetic Resource Exchange (AGRE) is a repository of genetic data related to autism spectrum disorders. It includes information about genes associated with autism, including RELN.
- GeneCards: GeneCards is a database that provides information about genes, including their function, expression, and association with diseases. It includes information about the RELN gene and its role in various disorders.
These databases serve as valuable resources for researchers and healthcare professionals to access information about the RELN gene and other genes associated with complex disorders. They provide a wealth of information that can help in understanding the genetic basis of these conditions, identifying potential triggers, and developing targeted therapies.
References
- recessive: In genetics, describes a trait or disorder that is expressed only in individuals who have inherited two copies of a mutant gene, one from each parent.
- many: There are many disease-causing variants in the RELN gene.
- of: The RELN gene is associated with a variety of neurological disorders.
- disease: The RELN gene is implicated in several diseases, including lissencephaly, autism, and myoclonus-dystonia.
- additional resources: Additional resources for genetic testing and information on the RELN gene can be found in various databases and scientific articles.
- testing: Genetic testing can identify changes or variants in the RELN gene that may contribute to the development of certain disorders.
- databases: Databases such as OMIM and PubMed contain information on the RELN gene and its association with various conditions.
- this: This information can be useful for researchers, healthcare professionals, and individuals interested in genetics and genetic disorders.
- other: The RELN gene is just one of many genes that have been implicated in the development of complex disorders.
- genetic risk: Variants in the RELN gene may increase the genetic risk for certain conditions.
- scientific: Scientific studies have shown a spectrum of disorders associated with changes in the RELN gene.
- spectrum: The spectrum of disorders associated with the RELN gene includes lissencephaly, autism, and cerebellar hypoplasia.
- registry: There may be a registry or catalog of individuals with specific RELN gene variants and associated disorders.
- conditions: The RELN gene is associated with a range of conditions and disorders.
- variant triggers: Variants in the RELN gene may act as triggers for certain neurological disorders.
- for: Genetic testing can be done for the RELN gene to determine the presence of disease-causing variants.
- disorders: Disorders associated with changes in the RELN gene are complex and can have diverse clinical presentations.
- complex: The development of neurological disorders is often influenced by a complex interplay of genetic and environmental factors.
- listed references: The following references provide more information on the RELN gene and its association with various diseases and disorders:
- GENET database: https://genet.sickkids.on.ca/home.php
- OMIM: https://www.omim.org/
- PubMed: https://pubmed.ncbi.nlm.nih.gov/
- Catalog of Genes and Diseases: https://www.ncbi.nlm.nih.gov/gene/3897