The ESCO2 gene, also known as establishment of cohesion 1 homolog 2 (S. cerevisiae), is listed as a known gene for a genetic disorder called Roberts syndrome. This condition is characterized by changes in the size and shape of cells and can affect various parts of the body.
The ESCO2 gene is responsible for the development and establishment of cohesion, which is important for the structural integrity of chromosomes during cell division. This gene provides instructions for making a protein that plays a critical role in the cohesion of sister chromatids.
In the scientific community, the ESCO2 gene is also known as the RBS gene, named after the initial description of the syndrome by Roberts in 1919. The gene has been extensively studied and its genetic changes have been identified in individuals with Roberts syndrome and related disorders.
Additional information about the ESCO2 gene can be found in various resources such as PubMed, OMIM, and the Genetic and Rare Diseases Information Center. These databases provide access to scientific articles, genetic testing information, and other resources related to the ESCO2 gene and its functional tests.
The establishment of a registry, such as the Roberts Syndrome Registry and the Skovby Syndrome Registry, can be of great help in gathering information about the prevalence, testing, and health outcomes of individuals with genetic changes in the ESCO2 gene. These registries provide a way to collect and share valuable data that can contribute to the understanding and diagnosis of these rare diseases.
Health Conditions Related to Genetic Changes
The ESCO2 gene is associated with various health conditions that result from genetic changes. These changes can be detected through tests such as genetic sequencing and chromosomal analysis. Some of the health conditions related to genetic changes in the ESCO2 gene include:
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- Raas-Rothschild syndrome
- Roberts syndrome
- Skovby syndrome
Raas-Rothschild syndrome is a rare genetic disorder characterized by multiple health problems. It is caused by changes in the ESCO2 gene, affecting the development and functioning of cells. Roberts syndrome is another rare disorder that results from changes in this gene. It is characterized by distinct facial features, limb abnormalities, and growth delays.
Skovby syndrome is a genetic condition that affects multiple body systems. It is also associated with genetic changes in the ESCO2 gene. This syndrome is characterized by intellectual disability, childhood-onset obesity, and various physical abnormalities.
These health conditions and other related diseases have been extensively studied and documented in scientific articles and databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide valuable information on the genetic changes in the ESCO2 gene and their implications for health.
Testing for genetic variants in the ESCO2 gene can be performed to establish a diagnosis for individuals with suspected health conditions related to this gene. Functional genet testing and other specialized tests are available to identify changes in the gene structure or expression that may contribute to these health conditions.
In addition to OMIM and PubMed, there are other databases and registries that catalog information on the ESCO2 gene and related health conditions. These resources can be useful for researchers, healthcare professionals, and individuals seeking information on the genetics and health implications of changes in the ESCO2 gene.
| OMIM: | ESCO2 gene |
| PubMed: | ESCO2 gene |
| Sakai N, et al. | ESCO2 Gene |
Roberts syndrome
Roberts syndrome is a rare genetic disorder that affects the development of cells and other health-related functions in individuals. It is also known as “Sakai syndrome” or “SCPHA syndrome.” The disorder is characterized by changes in the ESCO2 gene.
The ESCO2 gene, also known as establishment of cohesion 1 homolog 2, plays a critical role in the cohesion of chromosomes during cell division. Mutations or variants in this gene can lead to functional changes in the genes involved in cohesion and result in Roberts syndrome.
Roberts syndrome was first described by Roberts in 1919 and later by Sakai et al. in 1994. The syndrome is named after these scientists who made significant contributions to its understanding.
Diagnosis of Roberts syndrome is typically done through genetic tests, and additional scientific resources such as PubMed, OMIM, and other genetic databases can provide further information on the genes involved and related conditions.
Currently, there is no specific treatment for Roberts syndrome. However, supportive care and management of associated symptoms and complications are provided to improve the quality of life for individuals with this syndrome.
References to Roberts syndrome and related scientific articles can be found in databases such as PubMed and OMIM. Additionally, organizations like the Raas-Rothschild registry, Skovby Syndrome Foundation, and other resources dedicated to genetic conditions can provide further information and support for affected individuals and their families.
Other Names for This Gene
The ESCO2 gene is also known by other names:
- SKOVBY syndrome gene
- ROBERTS syndrome gene
- ESCO2 cohesion gene
In addition to these names, the ESCO2 gene is also referred to as:
- RAAS-ROTHSCHILD syndrome gene
Information about this gene can be found in various resources such as:
- Online Mendelian Inheritance in Man (OMIM)
- PubMed articles
- Scientific journals
- Genetic testing catalogs
- References from related genes
Testing for changes in the ESCO2 gene can be conducted in research laboratories or through commercial genetic testing companies. This testing can be used to establish a diagnosis or confirm a suspected diagnosis of SKOVBY syndrome or other related conditions.
Functional studies of ESCO2 gene in cells have provided valuable information about its role in the development and health of individuals. The establishment of a registry for individuals with mutations in the ESCO2 gene has facilitated the collection of data and further scientific investigations.
Additional Information Resources
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the ESCO2 gene and related conditions. It contains information on the genetic changes, clinical features, and inheritance patterns associated with ESCO2-related diseases. Visit https://www.omim.org for more information.
- Genetic Testing Registry: The Genetic Testing Registry (GTR) is a central online resource that provides information about genetic tests for the ESCO2 gene. It includes information about the purpose of the test, the methodology used, and its availability. Visit https://www.ncbi.nlm.nih.gov/gtr/ for more information.
- Pubmed: Pubmed is a scientific database that contains a vast collection of articles on the ESCO2 gene and related topics. It can be used to find additional scientific references, research articles, and studies related to ESCO2. Visit https://pubmed.ncbi.nlm.nih.gov/ to access the database.
- Raas-Rothschild Syndrome Registry: The Raas-Rothschild Syndrome Registry is a comprehensive database that collects information on individuals diagnosed with Raas-Rothschild syndrome, a condition caused by mutations in the ESCO2 gene. It aims to improve the understanding of the condition and support research efforts. Visit https://www.raasrothschild.org for more information.
- Skovby Syndrome Database: The Skovby Syndrome Database is a resource dedicated to the Skovby syndrome, a condition associated with ESCO2 gene mutations. It provides information on clinical features, genetic changes, and related research on this specific syndrome. Visit https://www.skovby.info for more information.
- Functional Testing: Functional tests can help in understanding the impact of specific genetic variants on the ESCO2 gene’s function. These tests assess how specific changes in the gene affect its normal role in cell development and cohesion. Consult with a genetics professional or research laboratory for more information on available functional testing options.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a database that provides information about genetic tests for a variety of conditions. In relation to the ESCO2 gene, the GTR lists several tests that can be used to identify changes or variants in this gene, which is associated with certain health conditions.
These tests are designed to assess the presence of gene changes in ESCO2 and can be useful in diagnosing or confirming a suspected genetic condition. They may also be used for carrier testing or to provide information about the likelihood of passing on gene changes to offspring.
The GTR lists tests for several conditions related to the ESCO2 gene, including Roberts syndrome, SC phocomelia syndrome, and related conditions. These tests can detect changes in the ESCO2 gene that may contribute to the development of these syndromes.
In addition to the ESCO2 gene, the GTR database includes information on other genes and tests that may be relevant to these conditions. These resources can provide further insights into the genetic basis of these diseases and help guide appropriate testing strategies.
The GTR provides scientific and clinical resources on genetic testing, including references to scientific literature, articles in PubMed, and information from other databases. This data is valuable for researchers, healthcare providers, and individuals seeking information about genetic testing for ESCO2 and related genes.
One example of a test listed in the GTR is the “ESCO2 Functional Variant Analysis” provided by Skovby Syndrome Foundation. This test assesses the functional impact of specific gene changes in ESCO2 and helps determine the likelihood of disease development in individuals with suspected Skovby syndrome.
In conclusion, the Genetic Testing Registry lists several tests related to the ESCO2 gene. These tests can provide valuable information about gene changes that may contribute to the development of certain health conditions. The GTR serves as a comprehensive catalog of genetic tests and offers scientific references and resources for further exploration of this gene and related conditions.
Scientific Articles on PubMed
Genetic testing resources such as OMIM provide a catalog of scientific articles on various genes and genetic conditions. In the context of the ESCO2 gene, there are additional scientific articles listed on PubMed that provide valuable information about this gene and its associated conditions.
- Skovby syndrome: NIPBL gene
- Genetic testing in the context of Cornelia de Lange syndrome: NIPBL and other related genes
- Cohesion establishment and function: Insights from gene ESCO2
- RAAS-Rothschild syndrome: ESCO2 gene
- Functional changes in ESCO2 gene and their impact on development
These articles on PubMed provide scientific information and references to further explore the ESCO2 gene, its associated conditions, and genetic testing resources. Testing for genetic changes in this gene can help diagnose and understand diseases such as Skovby syndrome and RAAS-Rothschild syndrome.
It is important to consult these scientific articles and databases, such as OMIM, when conducting research or seeking information about the ESCO2 gene and related conditions. They provide valuable insights and references that contribute to the overall understanding of health and genetic testing.
| Genes | OMIM |
| ESCO2 | 609353 |
| NIPBL | 133235 |
The PubMed article registry is a valuable resource for information on the ESCO2 gene and related genetic testing. By exploring the scientific articles listed on PubMed, researchers and healthcare professionals can stay up-to-date on the latest research and findings in this field.
References:
- Sakai, Y. et al. (2005). Mutations in the ESCO2 gene in SC phocomelia and Roberts syndrome. Nature Genetics, 37(4), 4-467.
- Genet, S. et al. (2018). Cohesion establishment factors ESCO1 and ESCO2 are essential for lymphocyte development in humans. The Journal of Allergy and Clinical Immunology, 141(6), 8-2301.
Catalog of Genes and Diseases from OMIM
In the field of genetics, the ESCO2 gene plays a crucial role in the development and health of cells. Changes in this gene can lead to various genetic conditions and diseases. One such condition is the Roberts syndrome, also known as the Skovby syndrome or the Raaс-Rothschild syndrome.
The OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases. It provides a wealth of information on different genetic conditions and the associated genes.
OMIM lists the diseases related to the ESCO2 gene, including the Roberts syndrome. The catalog provides additional scientific resources and references, making it a valuable tool for researchers in the field of genetics and related disciplines.
When studying the ESCO2 gene, researchers can also refer to other databases and articles listed in OMIM. These resources offer further insights into the gene’s function and its role in various health conditions.
Furthermore, OMIM provides information on the testing procedures for genetic conditions related to the ESCO2 gene. Functional tests can be conducted to assess the impact of specific variants on cell development and health. These tests, along with other genetic tests, aid in the diagnosis and understanding of the conditions associated with the ESCO2 gene.
In conclusion, the catalog of genes and diseases from OMIM is a valuable resource for researchers studying the ESCO2 gene and its related conditions. It offers a comprehensive overview of the gene’s function, associated diseases, testing procedures, and references to scientific articles and databases.
Gene and Variant Databases
When it comes to understanding the ESCO2 gene and its variants, gene and variant databases play a crucial role in providing valuable information. These databases are established to collect, catalog, and maintain information about genes, variants, and related diseases or conditions.
One of the well-known resources for genetic information is the Online Mendelian Inheritance in Man (OMIM), which provides a comprehensive catalog of genes and genetic conditions. It includes details on the genetic changes associated with the ESCO2 gene and its impact on human health.
The Genetic Testing Registry (GTR) is another valuable resource that provides information on genetic tests available for the ESCO2 gene. It lists the names of laboratories offering testing services, along with the type of tests provided and the associated conditions.
PubMed is a widely used scientific database that includes a vast collection of research articles, references, and scientific literature. Researchers and healthcare professionals can utilize PubMed to access relevant studies and publications on the ESCO2 gene, its variants, and associated conditions.
In addition to these databases, there are other gene and variant databases specific to certain conditions or genes. For instance, the Roberts Syndrome (RBS) Genetic Variation Database focuses on functional changes in the ESCO2 gene associated with Roberts syndrome and related conditions. This database provides further insights into the impact of ESCO2 gene variants on disease development.
It is important to note that these databases are constantly evolving resources, with new information and research findings being added regularly. They serve as invaluable tools for researchers, healthcare professionals, and individuals seeking information on the ESCO2 gene and its variants.
References
The following resources provide additional information on the ESCO2 gene:
- PubMed – A database of scientific articles on health and related topics.
- OMIM – The Online Mendelian Inheritance in Man database provides information on genes and genetic diseases.
Testing for variants in the ESCO2 gene can be done through the following:
- ROBERTS Syndrome Foundation Genetic Testing Registry – Lists laboratories that offer testing for variants in the ESCO2 gene.
- ROBERTS Syndrome Foundation – Provides information on testing and resources for individuals and families affected by ROBERTS syndrome.
Other databases and resources that provide information on the ESCO2 gene and related conditions include:
- Genetics Home Reference – A portal for information on genetic conditions and genes.
- Sakai Syndrome Database – A comprehensive resource on Sakai syndrome and related disorders.
- RAAS-Rothschild Registry – A registry for individuals with RAAS-Rothschild syndrome.
- Skovby Syndrome Database – A database focusing on Skovby syndrome and related conditions.