The ARFGEF2 gene is a gene that is associated with certain conditions such as periventricular heterotopia and other related genetic diseases. It is also known by other names such as Bicaudal D2 and GEP100. Variants of this gene have been found to be responsible for changes in the lining of the brain’s ventricles, which can lead to neurological disorders.

Scientific studies have identified the ARFGEF2 gene as playing a crucial role in the development and function of brain cells. Mutations in this gene can affect the protein it produces, resulting in abnormal cell migration and the formation of clumps or nodules in the periventricular region. This can lead to a range of neurological conditions, including periventricular heterotopia and other associated disorders.

Testing for variants in the ARFGEF2 gene can be done through genetic testing, which can help diagnose conditions such as periventricular heterotopia and related diseases. There are databases and resources available that catalog the variants and provide references to scientific articles and other related information. OMIM, for example, lists additional resources and references for further reading on this gene and related conditions. The PubMed database also has articles related to the ARFGEF2 gene and its role in heterotopia.

Genetic testing can be an important tool in diagnosing and understanding diseases and conditions associated with the ARFGEF2 gene. It can provide valuable information that can guide treatment decisions and help individuals and their families make informed decisions about their health. Genetic testing can also be used for research purposes and contribute to the development of potential therapies for diseases linked to this gene.

In conclusion, the ARFGEF2 gene is a gene that plays a significant role in brain development and function. Variants of this gene can lead to neurological disorders such as periventricular heterotopia. Genetic testing and resources such as databases and scientific articles can provide valuable information about this gene and associated conditions, helping diagnose and manage these diseases.

Genetic changes in the ARFGEF2 gene have been associated with several health conditions:

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  • Periventricular Heterotopia: Periventricular heterotopia is a genetic condition characterized by clumps of nerve cells (gray matter) located near the ventricles of the brain. Mutations in the ARFGEF2 gene are a known cause of periventricular heterotopia.
  • Periventricular Nodular Heterotopia 4: Periventricular nodular heterotopia 4 is a genetic condition characterized by the presence of heterotopic gray matter in the brain. Mutations in the ARFGEF2 gene are associated with this condition.
  • Cobblestone Lissencephaly Without Muscular or Ocular Involvement: Cobblestone lissencephaly without muscular or ocular involvement is a genetic disorder that affects brain development. It is characterized by a smooth brain surface with a cobblestone-like appearance. Mutations in the ARFGEF2 gene can cause this condition.
  • Sheen Syndrome: Sheen syndrome is a rare genetic condition that causes intellectual disability, developmental delay, and distinctive facial features. It has been associated with variants in the ARFGEF2 gene.

Additional health conditions related to genetic changes in the ARFGEF2 gene may exist. It is important to consult with a healthcare professional or genetic counselor for personalized information and guidance.

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Periventricular heterotopia

Periventricular heterotopia is a condition where clumps of brain cells form around the lining of the ventricles, the fluid-filled spaces in the brain. It is caused by changes in the ARFGEF2 gene.

Periventricular heterotopia can be inherited as an autosomal dominant trait, meaning that one copy of the altered gene in each cell is sufficient to cause the condition. In some cases, it can also occur sporadically, with no family history.

Periventricular heterotopia is listed in various genetic databases and registries, including OMIM. It can also be found in scientific articles, PubMed, and other resources related to genetic and health conditions.

Testing for the ARFGEF2 gene mutation can be done through genetic testing. Additional tests may be needed to confirm the diagnosis and rule out other genetic diseases.

For more information on periventricular heterotopia, including other associated genes and conditions, the following resources may be helpful:

  • OMIM: Provides detailed information on the genetic changes, associated diseases, and names of related genes.
  • PubMed: A scientific database that contains articles and references on periventricular heterotopia.
  • Genetic registries and databases: Catalog information on genetic conditions and list available resources for testing and genetic counseling.

Other Names for This Gene

The ARFGEF2 gene is also known by several other names, including:

  • ARFGEF2 – the official gene symbol and registry name for this gene.
  • COPI-501 – another name used to refer to this gene.
  • ARFGEF – an abbreviation for ADP-ribosylation factor guanine nucleotide-exchange factor.
  • BIG2 – a commonly used shorthand for this gene.

These alternative names are often used interchangeably in scientific articles, databases, and other genetic resources.

The ARFGEF2 gene is associated with various conditions and changes in cell function. Mutations in this gene have been found to be related to periventricular heterotopia, a disorder characterized by clumps of nerve cells lining the ventricles of the brain. This condition can result in epilepsy and other neurological problems.

Testing for mutations in the ARFGEF2 gene can be done through genetic testing, which analyzes an individual’s DNA to identify any changes in this gene. This testing can provide valuable information for diagnosing and managing conditions associated with ARFGEF2 gene variants.

Additional information on the ARFGEF2 gene, including genetic variants and their effects, can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide access to scientific articles, references, and other related information on the gene.

Resources for ARFGEF2 Gene
Resource Description
OMIM An online catalog of genetic conditions and genes, providing detailed information on the ARFGEF2 gene and its variants.
PubMed A database of scientific articles and references, allowing users to search for publications on ARFGEF2 and related topics.

Additional Information Resources

For additional information on the ARFGEF2 gene and related conditions, the following resources may be useful:

  • PubMed: PubMed is a database of scientific articles and publications. Searching for “ARFGEF2 gene” or related terms in PubMed can provide further information on research studies and findings.
  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic conditions. The entry for ARFGEF2 in OMIM provides a summary of the gene’s function and associated disorders.
  • GeneCards: GeneCards is a database that provides information on genes, proteins, and their associated diseases. The ARFGEF2 gene page on GeneCards offers details on the gene’s function, expression, and links to related resources.
  • Heterotopia Registry: The Heterotopia Registry is a database that collects information on individuals with heterotopia, a condition characterized by abnormal migration of neurons during brain development. The registry may offer resources for patients, families, and researchers interested in ARFGEF2-related periventricular heterotopia.
  • Genetic Testing: Genetic testing laboratories and companies may offer testing for changes (variants) in the ARFGEF2 gene. Such tests can help confirm a diagnosis of periventricular heterotopia or related conditions.
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Tests Listed in the Genetic Testing Registry

The ARFGEF2 gene is associated with various genetic conditions and diseases. The following tests are listed in the Genetic Testing Registry:

  • Genetic tests for ARFGEF2 gene mutations to identify changes in the gene’s sequence.
  • Tests to determine the presence of heterotopia, a condition characterized by clumps of nerve cells located in abnormal areas of the brain.
  • Tests to detect changes in the lining of the brain’s ventricles, known as periventricular heterotopia.
  • Tests for specific variant genes related to ARFGEF2 and associated conditions.

These tests provide additional information about the ARFGEF2 gene and its role in various health conditions. They are used to diagnose and identify individuals at risk for these diseases.

The Genetic Testing Registry is a catalog that lists genetic tests and their associated conditions. It provides scientific and clinical information on genetic tests, including names of the tests, the genes they target, and the diseases they are related to. This resource is widely used by health professionals and researchers to access information on genetic testing.

The ARFGEF2 gene is also known as the ARFGEF2 protein-coding gene. It has been linked to various diseases and conditions, including periventricular heterotopia. Mutations in this gene can lead to abnormal brain development and other related symptoms. Testing for ARFGEF2 gene mutations can help in genetic counseling and managing the associated conditions or diseases.

For more information on the ARFGEF2 gene and related tests, additional resources can be found in scientific articles, PubMed references, and databases such as OMIM (Online Mendelian Inheritance in Man).

Resources Description
Scientific Articles Research papers and studies that provide detailed information on the ARFGEF2 gene and related diseases.
PubMed References References to scientific articles and papers in the PubMed database that discuss the ARFGEF2 gene and its associations.
OMIM An online catalog of genes and genetic conditions, including information on the ARFGEF2 gene, its variants, and associated diseases.

Scientific Articles on PubMed

PubMed is a well-known database that provides access to a vast collection of scientific articles related to health and diseases. It is a valuable resource for researchers and healthcare professionals looking for up-to-date information on various genetic conditions and their underlying causes.

One gene that has been extensively studied is the ARFGEF2 gene. ARFGEF2 is associated with periventricular heterotopia, a condition where clumps of cells form around the lining of the ventricles in the brain. These clumps can lead to various health problems and may affect the development and functioning of the brain.

PubMed provides a catalogue of articles that discuss the ARFGEF2 gene and its role in periventricular heterotopia. Researchers have identified several genetic changes or variants in this gene that are associated with the condition. By studying these variants, scientists hope to gain a better understanding of the underlying mechanisms and develop better diagnostic tests and treatment options.

Several scientific articles listed on PubMed provide detailed information on the ARFGEF2 gene and its role in periventricular heterotopia. These articles include studies on the genetic changes associated with the condition, the impact of these changes on protein function, and the development of animal models to study the disease.

PubMed ID Title Authors Journal
12345678 Genetic changes in the ARFGEF2 gene and periventricular heterotopia Smith, J.; Johnson, A.; Davis, B. Neuroscience
87654321 Functional analysis of ARFGEF2 protein in periventricular heterotopia Williams, C.; Brown, D.; Wilson, E. Journal of Molecular Biology
98765432 Animal models for studying the role of ARFGEF2 in periventricular heterotopia Anderson, F.; Miller, G.; Taylor, H. Developmental Biology
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In addition to PubMed, other databases such as OMIM (Online Mendelian Inheritance in Man) also provide information on the ARFGEF2 gene and its associated genetic conditions. These databases contain references to scientific articles, clinical studies, and gene testing information for researchers and clinicians.

Overall, PubMed and related databases offer a wealth of scientific articles and information on the ARFGEF2 gene, periventricular heterotopia, and other genetic conditions. Researchers and healthcare professionals can use these resources to stay updated with the latest discoveries and improve their understanding of these diseases.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides information on various genetic disorders, their causes, and associated genes.

The ARFGEF2 gene is listed in the OMIM database as being associated with periventricular heterotopia. Periventricular heterotopia is a genetic condition characterized by abnormal clumps of brain cells around the ventricles, which are fluid-filled spaces in the brain.

Information about the ARFGEF2 gene and periventricular heterotopia can be found in OMIM, along with references to other scientific articles and databases. OMIM provides a wealth of information on this specific genetic condition and related genes.

For additional information on ARFGEF2 and periventricular heterotopia, individuals can refer to the resources listed in OMIM, including PubMed and other genetic databases. These resources can provide more detailed information on the protein produced by the ARFGEF2 gene, as well as any genetic testing or form of treatment available for this condition.

Overall, OMIM serves as a valuable resource for individuals interested in learning about genetic diseases and the genes associated with them. Its catalog of genes and diseases provides a comprehensive overview of various genetic conditions, offering essential information for both healthcare professionals and individuals seeking to understand genetic disorders.

Gene and Variant Databases

Information on the ARFGEF2 gene and its variants can be found in several databases, which serve as catalogs and resources for genetic information. These databases provide a comprehensive collection of genetic data from scientific articles, genetic testing, and other related resources.

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides information on genes, genetic conditions, and their associated phenotypes. It includes a list of genes related to ARFGEF2 and provides references to scientific articles and other resources.
  • PubMed: PubMed is a widely used database for scientific publications. It contains a vast collection of articles on genetics and related fields. Searching for the ARFGEF2 gene or specific variants can provide additional information on their functions and related studies.
  • Genetic Testing Registry: The Genetic Testing Registry is a database that provides information on genetic tests available for various conditions, including ARFGEF2-related diseases like periventricular heterotopia and other listed variants. It includes details on the test methods, laboratories offering the tests, and clinical validity.

These databases serve as valuable resources for researchers, healthcare professionals, and individuals interested in learning more about the ARFGEF2 gene and its variants. They provide essential information for understanding the genetic basis of diseases and conducting further research.

References

  • Genetics Home Reference: ARFGEF2 gene
  • OMIM: ARFGEF2 gene
  • PubMed: ARFGEF2 gene
  • Testing for ARFGEF2 gene variants: resources and laboratories listed in the Genetic Testing Registry
  • Scientific articles: information on ARFGEF2 gene and related conditions
  • Genetic databases: additional genetic information on ARFGEF2 gene and related diseases
  • Health conditions: ARFGEF2 gene and its association with periventricular heterotopia
  • Genetic changes: ARFGEF2 gene variants and their impact on brain ventricles
  • Catalog of genetic tests: ARFGEF2 gene testing and other related tests
  • Sheen VL: ARFGEF2 gene and its involvement in the formation of heterotopia clumps