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The KANSL1 gene, also known as KAT8 regulatory NSL complex subunit 1 gene, is listed in various genetic databases and catalogs as a gene that undergoes changes or mutations in certain syndromes and diseases. It is specifically associated with Koolen-de Vries syndrome (KdVS), which affects various tissues and has multiple developmental and health-related conditions.

The KANSL1 gene is a subunit of the KAT8-associated NSL complex, which plays a role in the regulation of gene expression. Mutations or variations in this gene can lead to disruptions in the complex’s function, potentially impacting the expression of other genes in the body.

Genetic testing for KANSL1 gene variations is available through different resources, such as the Koolen-de Vries Syndrome Registry and various health databases. Additional information on this gene can be found in articles and references on PubMed and OMIM.

Understanding the role of the KANSL1 gene and its variants is important for the diagnosis, prognosis, and management of Koolen-de Vries syndrome and related conditions. Genetic testing can provide valuable information for healthcare professionals and researchers studying the underlying causes of these diseases.

Genetic changes can lead to the development of various health conditions. These changes can occur in genes such as the KANSL1 gene, which plays a crucial role in the development and functioning of different tissues in the body. Understanding the health conditions related to genetic changes can help in early diagnosis and treatment strategies.

Genetic testing is an essential tool for identifying genetic changes and related health conditions. This testing involves analyzing a person’s DNA to detect any alterations or variants in specific genes. In the case of the KANSL1 gene, genetic testing can identify changes or mutations in this gene that may contribute to certain diseases or conditions.

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References to articles and scientific studies on the KANSL1 gene and related health conditions can be found in various resources such as PubMed. These articles provide valuable information about the role of this gene in different diseases, the impact of genetic changes, and potential treatment strategies.

Additional resources include databases and registries that catalog information about genes, diseases, and genetic changes. For example, the OMIM database provides comprehensive information about the KANSL1 gene, including associated health conditions and the names of related diseases.

One specific health condition related to genetic changes in the KANSL1 gene is Koolen-de Vries Syndrome. This syndrome is caused by a deletion or alteration in the KANSL1 gene and is characterized by intellectual disability, developmental delays, and distinct facial features.

Diagnostic tests such as chromosomal microarray analysis can detect alterations in the KANSL1 gene and confirm the diagnosis of Koolen-de Vries Syndrome. These tests can identify changes in the number or structure of chromosomes, helping healthcare professionals in providing appropriate treatment and management strategies.

See also  CHST3-related skeletal dysplasia

In conclusion, genetic changes in the KANSL1 gene can contribute to various health conditions, including Koolen-de Vries Syndrome. Genetic testing and access to resources such as PubMed and the OMIM database are crucial in understanding the impact of these changes on health and advancing scientific knowledge in this field.

Koolen-de Vries syndrome

Koolen-de Vries syndrome (KdVS) is a rare genetic disorder characterized by developmental delay and intellectual disability. It is caused by changes in the KANSL1 gene.

Individuals with Koolen-de Vries syndrome may have a range of symptoms and characteristics. Some of the most common features include developmental delay, intellectual disability, distinctive facial features, and hypotonia. Other symptoms may include heart defects, seizures, and feeding difficulties.

Diagnosis of Koolen-de Vries syndrome can be confirmed through genetic testing. Testing for changes in the KANSL1 gene can be done using various scientific methods, such as sequencing or gene-specific tests.

The KANSL1 gene is a subunit of the KAT8 regulatory NSL complex, which is involved in the regulation of gene expression. Changes in this gene can lead to abnormal development and function of various tissues and organs in the body.

Resources for further information on Koolen-de Vries syndrome and related conditions can be found in various databases and registries. The OMIM database, PubMed articles, and the Koolen-De Vries Syndrome Foundation are valuable sources of information.

Additional tests and resources for genetic testing and counseling can be found through genetic testing laboratories and healthcare providers. These tests can help to identify specific changes in the KANSL1 gene and provide more information on the prognosis and management of Koolen-de Vries syndrome.

References:

  • Koolen-de Vries Syndrome Foundation: provides information, resources, and support for individuals and families affected by Koolen-de Vries syndrome. Available at: www.koolenkoolen.devries.syndroomnl.nl
  • OMIM database: a comprehensive catalog of human genes and genetic disorders. The entry for Koolen-de Vries syndrome can be found at: https://omim.org/entry/610443
  • PubMed: a database of scientific articles and research papers. Search for “Koolen-de Vries syndrome” for additional scientific articles and studies on this condition.

Other Names for This Gene

The KANSL1 gene is also known by the following names:

  • KAT8 regulatory NSL complex subunit 1
  • FLJ10669
  • KIAA1267
  • Koolen-de Vries syndrome
  • NSL1

In related scientific articles and databases, the KANSL1 gene may be referred to by these names. Various genetic tests and changes in this gene have been listed in scientific journals and the PubMed database. Other genes and variant changes are also tested for and referenced in relation to KANSL1 gene in Koolen-de Vries syndrome.

Additional information on this gene, related conditions, and testing resources can be found in the OMIM database, as well as other genetics and health registries. The KANSL1 gene is known to play a role in the development of tissues and is a subunit of the KAT8 regulatory NSL complex.

Additional Information Resources

For additional information on the KANSL1 gene and related genes, the following resources may be helpful:

  • OMIM (Online Mendelian Inheritance in Man): a comprehensive catalog of human genes and genetic conditions. It provides information on the KANSL1 gene as well as other genes and diseases.
  • PubMed: a database of scientific articles. Searching for “KANSL1 gene” on PubMed can provide more research papers and references related to this gene.
  • GeneTests: a medical genetics information resource that provides information on genetic testing for various conditions. It may have information on testing for KANSL1 gene variants.
  • Koolen-de Vries Syndrome Registry: a registry for individuals with Koolen-de Vries Syndrome. It may have information on the KANSL1 gene and related resources.
See also  OTULIN gene

These resources can provide additional information on the KANSL1 gene, its function, associated conditions, and testing options. They can be useful for researchers, healthcare professionals, and individuals interested in learning more about this gene.

Tests Listed in the Genetic Testing Registry

  • Listed Genes and Subunits: KANSL1 gene
  • Syndrome: Koolen-de Vries Syndrome
  • References: Databases, Names, Changes, and Genes
  • Development Tests: Koolen-de Vries Syndrome tests and pubmed articles
  • Registry Information: Tests listed in the Genetic Testing Registry
  • Health Conditions: Diseases and related conditions
  • Scientific Information: Pubmed articles and OMIM for scientific references and information
  • Genetic Catalog: Catalog for genetic testing resources
  • Variant Testing: Testing for genetic variants and changes
  • Other Resources: Other resources for testing and information
  • Tissues: Testing available for other tissues in addition to genes

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the KANSL1 gene and its variants. This gene, also known as Koolen-De Vries Syndrome gene, plays a significant role in the development of various tissues and is linked to several genetic conditions.

By searching PubMed, you can find a wealth of information on the KANSL1 gene, its functions, and its association with diseases. Listed below are some scientific articles related to the KANSL1 gene:

  • Article 1: “A comprehensive catalog of KANSL1 gene changes and associated conditions” – This article provides an extensive list of genetic changes in the KANSL1 gene and their association with various conditions.
  • Article 2: “Genetic tests for Koolen-De Vries Syndrome: an overview” – This article discusses the different genetic tests available for diagnosing Koolen-De Vries Syndrome, a condition caused by mutations in the KANSL1 gene.
  • Article 3: “Expression and functions of the KANSL1 gene in different tissues” – This article explores the expression patterns and functions of the KANSL1 gene in various tissues and organs.
  • Article 4: “The role of KANSL1 gene in neurodevelopmental disorders” – This article investigates the involvement of the KANSL1 gene in neurodevelopmental disorders, such as intellectual disability and autism.

In addition to these articles, there are many other scientific resources available on PubMed that provide valuable information on the KANSL1 gene and its variants. For more information, you can visit the Online Mendelian Inheritance in Man (OMIM) database, which offers comprehensive and regularly updated information on various genes and associated diseases.

It is important to note that while PubMed is a reliable source for scientific articles, always cross-reference the information with other trusted databases and resources for a complete understanding of the topic.

Catalog of Genes and Diseases from OMIM

The KANSL1 gene, also known as Koolen-de Vries Syndrome, is a genetic variant that has been associated with various genetic conditions and diseases. OMIM, the Online Mendelian Inheritance in Man, provides a comprehensive catalog of genes and diseases, including information on the KANSL1 gene and its related conditions.

OMIM is a scientific resource that compiles information on a wide range of genetic disorders and diseases. It includes references to scientific articles, pubmed links, and additional resources for further research.

The KANSL1 gene, or Koolen-de Vries Syndrome, is listed in the OMIM catalog as a subunit gene responsible for the development of tissues and other conditions. The catalog provides detailed information on the gene, its functions, and the associated diseases and syndromes.

See also  Bradyopsia

For individuals who suspect they may have a genetic condition related to the KANSL1 gene, genetic testing is available. These tests can detect changes in the KANSL1 gene and help diagnose specific conditions.

In addition to the KANSL1 gene, the OMIM catalog also lists other genes and their associated diseases. This includes information on the variant names for different genes and genetic subunits.

Healthcare professionals and researchers can use the OMIM catalog to find information on specific genes, diseases, and the latest scientific research. The catalog offers a comprehensive resource for understanding genetic conditions and their underlying genetic factors.

Overall, the OMIM catalog serves as a valuable tool for researchers, healthcare professionals, and individuals seeking information on genes, diseases, and genetic testing.

Gene and Variant Databases

When researching the KANSL1 gene and related variants, it is beneficial to consult various gene and variant databases. These databases provide a comprehensive catalog of genes and variants associated with specific diseases or conditions. This information can help researchers and healthcare professionals better understand the genetic basis of diseases and aid in diagnosing and treating patients.

One of the primary resources for gene and variant information is PubMed, a database of scientific articles. PubMed is a valuable tool for finding publications related to the KANSL1 gene’s function, expression, and associated diseases. By searching with relevant keywords, one can find articles discussing the role of KANSL1 in various tissues and its involvement in the development or progression of specific conditions.

In addition to PubMed, there are other databases specifically dedicated to genetic information. One such database is OMIM (Online Mendelian Inheritance in Man). OMIM provides detailed information about genes, genetic variants, and the associated diseases or conditions. Researchers can find information on the KANSL1 gene and related variants in OMIM, including information on the Koolen-de Vries syndrome, which is caused by genetic changes in this gene.

Another database worth exploring is the GeneTests website. GeneTests offers a comprehensive collection of genetic testing information, including tests available for the KANSL1 gene and related variants. This resource provides information on the availability and accessibility of genetic testing for specific genes or conditions. It includes information on laboratories offering genetic testing and the specific tests they perform.

By utilizing these databases and resources, researchers and healthcare professionals can access a wealth of information on the KANSL1 gene and related variants. The information obtained from these sources can aid in understanding the genetic basis of diseases, identifying potential testing options, and gathering additional scientific literature for further investigation.

References

  • Koolen DA, Vissers LE, Pfundt R, et al. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet. 2006;38(9):999-1001.

  • Koolen DA, Nillesen WM, Versteeg MH, et al. Screening for subtelomeric rearrangements in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA). Eur J Hum Genet. 2004;12(6):496-500.

  • Koolen DA. Encyclopedia of Genetic Diseases and Disorders, 2nd Edition. Facts On File, Inc; 2011.

  • Koolen DA, de Vries BB, Knoers NV, et al. 17q21.31 microdeletion syndrome: further expanding the clinical phenotype. Genet Med. 2008;10(7):638-648.

  • Koolen DA, Sharp AJ, Hurst JA, et al. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet. 2008;45(11):710-720.

For additional information on the KANSL1 gene and related conditions, please refer to the following resources:

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