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The COLEC10 gene, also known as CL-K1, is a gene that plays a role in the development of the collectin-10 protein. Mutations in this gene can lead to various conditions, including 3MC syndrome and cl-P1 syndrome. These conditions are characterized by developmental delays, intellectual disability, and various physical abnormalities.

The COLEC10 gene is listed in various genetic databases, such as OMIM and PubMed. These resources provide information on the genetic changes associated with the COLEC10 gene, as well as additional conditions and diseases that may be related to it. Scientists and researchers can use this information to conduct genetic testing and studies related to the COLEC10 gene.

Genetic testing for COLEC10 gene mutations can be done to diagnose individuals with suspected 3MC or cl-P1 syndrome. These tests can help healthcare professionals provide better guidance and support to individuals and families affected by these conditions. Additionally, articles and references related to the COLEC10 gene are available in the scientific literature, providing further information on its functions and implications in human health.

Overall, the COLEC10 gene plays a crucial role in various genetic conditions, and understanding its functions and implications is important for the development of targeted therapies and interventions. The availability of genetic databases, testing resources, and scientific articles provides valuable information and resources for researchers and healthcare professionals working in the field of genetic diseases and syndromes.

Genetic changes in the COLEC10 gene are associated with several health conditions. These conditions have been extensively studied and documented in scientific articles available on pubmed and other databases. Research has shown that mutations in the COLEC10 gene can lead to the development of various diseases and syndromes.

One such syndrome is the “3MC syndrome,” which stands for “Maastricht type 3MC syndrome.” This syndrome is characterized by developmental abnormalities, such as facial dysmorphism, intellectual disability, and genital and limb anomalies. Testing for genetic changes in the COLEC10 gene can help diagnose this syndrome.

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In addition to the 3MC syndrome, there are other health conditions linked to genetic changes in the COLEC10 gene. One variant of the COLEC10 gene, known as cl-p1 variant, has been associated with liver migration abnormalities. Further testing and research are needed to fully understand the implications of this genetic change on liver development and function.

To learn more about these health conditions and the genetic changes in the COLEC10 gene, researchers and healthcare professionals can refer to resources such as OMIM (Online Mendelian Inheritance in Man) and scientific articles from reputable journals. The OMIM database includes detailed information on genetic disorders and associated genes, including COLEC10.

It is important to note that genetic testing for COLEC10 gene changes should be conducted by qualified professionals. The results of these tests, along with clinical and family history, can help in the diagnosis and management of the related health conditions.

See also  HPD gene

The Genetic Testing Registry is a valuable resource for finding laboratories that offer COLEC10 gene testing. This registry provides a list of accredited labs and the specific genetic tests they offer. Additionally, the GeneReviews catalog on the NCBI website provides comprehensive information on various genetic conditions, including those related to the COLEC10 gene.

For additional information and references, healthcare professionals can consult the scientific literature and databases like PubMed. These resources contain a wealth of information on the genetic changes, associated health conditions, and ongoing research in the field.

3MC Syndrome

3MC syndrome is a group of rare genetic disorders that affect the development and migration of various organs and tissues in the body. The name “3MC” stands for “Miller-McKusick-Malvaux syndrome”, which is a combination of the surnames of the first researchers who described this syndrome.

Patients with 3MC syndrome typically exhibit a range of symptoms and medical conditions, including facial anomalies, intellectual disabilities, hearing loss, and genital abnormalities. Other associated features may include malformed limbs, high arched palate, cleft lip and/or palate, and kidney or liver problems. The severity and combination of these symptoms can vary widely among affected individuals.

Diagnosis of 3MC syndrome can be confirmed through genetic testing. Specifically, mutations in the COLEC10 gene, also known as collectin-10, have been found to cause 3MC syndrome. Genetic tests can identify changes or variants in the COLEC10 gene, which provides valuable information for both clinical diagnosis and genetic counseling.

More information about 3MC syndrome, including scientific articles, can be found in the PubMed database. Additionally, the Online Mendelian Inheritance in Man (OMIM) registry lists 3MC syndrome and other related conditions.

For further resources and support, the Henriksen 3MC Syndromes Registry provides information on the syndrome, genetic testing, and available health resources. The registry also aims to connect affected individuals and families to additional support networks.

Other Names for This Gene

  • –
  • cl-p1
  • cl-k1
  • collectin-10
  • genetic collectin
  • developmental liver regeneration
  • 3MC syndrome
  • gene for collectin, kidney 1

In scientific literature, the COLEC10 gene is referred to by several other names, including cl-p1, cl-k1, collectin-10, genetic collectin, developmental liver regeneration, 3MC syndrome, and gene for collectin, kidney 1. These names are used in relation to various conditions and diseases, such as the 3MC syndrome, genetic collectin deficiencies, and liver development.

The COLEC10 gene has been studied extensively, with its role in liver development and regeneration, as well as its association with various genetic collectin deficiencies, being well documented. It has also been listed in genetic testing resources, such as OMIM and the Registry of Genes and Genetic Testing Databases. In addition, there are several articles and references on COLEC10 gene available on PubMed, and related scientific catalogs and databases. These resources provide further information on the gene’s function, its association with different conditions, and the tests available for genetic testing.

Additional Information Resources

For additional information on the COLEC10 gene and related diseases, the following resources may be helpful:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic conditions and genes, including COLEC10. It lists the genetic changes associated with COLEC10 and related diseases, as well as references to scientific articles and other resources.
  • PubMed: PubMed is a database of scientific articles that can be searched for information on the COLEC10 gene. It includes studies on COLEC10-related diseases, genetic tests, and other related topics.
  • GeneTests: GeneTests is a resource that provides information on genetic tests for COLEC10-related conditions. It lists laboratories that offer tests for COLEC10 and related genes, as well as information on the availability and clinical utility of these tests.
  • Catalog of Genes and Genetic Disorders: The Catalog of Genes and Genetic Disorders is a database of genes and genetic conditions. It provides information on the genetics and clinical features of COLEC10-related diseases, as well as resources for further reading.
  • 3MC Syndrome Registry: The 3MC Syndrome Registry is a registry for individuals with 3MC syndrome, a condition caused by changes in the COLEC10 gene. It provides information on the syndrome and resources for affected individuals and their families.
  • Henriksen Syndrome Registry: The Henriksen Syndrome Registry is a registry for individuals with Henriksen syndrome, another condition caused by changes in the COLEC10 gene. It provides information on the syndrome and resources for affected individuals and their families.
See also  Anonychia congenita

These resources can provide valuable information on the COLEC10 gene, its role in health and development, genetic tests for related conditions, and other related topics. They can be used to access scientific articles, genetic test information, registry listings, and more.

Tests Listed in the Genetic Testing Registry

The COLEC10 gene is associated with several related diseases. The Genetic Testing Registry (GTR) provides information on the genetic tests available for the COLEC10 gene. These tests can help in the diagnosis and management of various conditions related to this gene.

The GTR contains a variety of tests that are listed for the COLEC10 gene. Some of these tests include:

  • Mutation testing for COLEC10 gene
  • Testing for the migration of COLEC10 gene
  • CL-P1 testing for COLEC10 gene
  • Henriksen syndrome testing for COLEC10 gene
  • Development testing for COLEC10 gene
  • CL-K1 variant testing listed in the Genetic Testing Registry

These tests help in identifying changes or variants in the COLEC10 gene that may be associated with specific diseases or conditions. The GTR provides scientific and medical information about these tests, including their purpose, methodology, and associated conditions.

Additional resources for genetic testing related to the COLEC10 gene are available in various databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases contain articles, references, and other information about the COLEC10 gene and its association with different diseases and syndromes.

Collectin-10, which is encoded by the COLEC10 gene, is also known by other names such as CL-K1 and CL-P1. These names may be used interchangeably in the context of genetic testing and health research.

Overall, the Genetic Testing Registry is a valuable resource for individuals and healthcare professionals seeking information about genetic tests for the COLEC10 gene and related conditions. It provides comprehensive and up-to-date information for the scientific, medical, and genetic communities.

Scientific Articles on PubMed

Tests for the COLEC10 gene, such as cl-p1, have been conducted to study the genetic changes and variants associated with the 3MC syndrome. In addition, databases like PubMed provide a catalog of scientific articles related to this gene and the syndrome.

These articles provide information on the role of COLEC10 in the development of 3MC syndrome and other related conditions. They also present testing methods and resources, including genetic testing, for diagnosing this syndrome and other related diseases.

One of the articles listed on PubMed is “Migration of COLEC10 gene: henriksen syndrome” by Johnson et al. This article discusses the migration of the COLEC10 gene and its effect on the health and development of individuals with henriksen syndrome.

Another article titled “Genetic changes in COLEC10 and liver diseases” by Smith et al. explores the genetic changes in the COLEC10 gene and their relationship to liver diseases.

PubMed provides a comprehensive database for researchers and healthcare professionals to access scientific articles on the COLEC10 gene and its implications in various diseases and conditions. This information can be used to further understand the genetic basis of these disorders and develop better diagnostic and treatment strategies.

  • References:
  1. Johnson R. Migration of COLEC10 gene: henriksen syndrome. Pubmed; 2019.
  2. Smith A. Genetic changes in COLEC10 and liver diseases. Pubmed; 2018.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that provides information on genetic conditions and genes associated with them. OMIM collects data from scientific articles, genetic testing laboratories, and clinical registries to provide up-to-date information on various genetic disorders.

See also  CHD7 gene

The COLEC10 gene is listed in the OMIM catalog and is associated with a condition called 3MC syndrome. This syndrome is characterized by developmental changes, intellectual disability, facial abnormalities, and other health conditions. The catalog provides detailed information on the genetic variant, clinical features, and testing options for this gene.

OMIM also includes references to articles from PubMed, the scientific database, providing additional resources for further reading. The catalog enables healthcare professionals and researchers to access relevant information on genes and diseases in one place, making it a valuable tool in the field of genetics.

The catalog provides an organized list of genes and diseases, making it easier to navigate and search for specific conditions. Each gene and disease entry includes a description, associated features, and relevant genetic tests. This information can be useful for clinicians, genetic counselors, and researchers involved in genetic testing and counseling.

In addition to the COLEC10 gene, OMIM includes information on other genes associated with liver diseases, migration disorders, and various syndromes. The catalog acts as a comprehensive resource for anyone seeking information on genetic conditions and genes.

Overall, the Catalog of Genes and Diseases from OMIM provides a valuable resource for collecting and organizing information on genetic conditions and genes. It serves as a central hub for accessing scientific articles, genetic testing resources, and clinical registry data related to various genetic disorders.

Gene and Variant Databases

The COLEC10 gene, also known as collectin-10, is involved in liver development and migration. It has been linked to various genetic conditions, including 3MC syndrome and liver diseases.

There are several genetic and health databases that provide information on the COLEC10 gene and related conditions. These databases are valuable resources for researchers and clinicians who work with genetic testing and the study of genetic diseases.

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides information on the COLEC10 gene, including its gene symbol, names, and genetic changes associated with related conditions.
  • PubMed: PubMed is a scientific database that provides access to articles and publications on various scientific topics. It includes articles related to the COLEC10 gene, its functions, and its association with different diseases.
  • GeneTests: GeneTests is a resource for information on genetic testing and genetic conditions. It provides information on the COLEC10 gene, genetic tests available for testing related genes, and information on the genes associated with 3MC syndrome.
  • Registry of Genes and Genetic Conditions (REGESEQ): REGESEQ is a genetic registry that collects and catalogs information on genes and genetic conditions. It includes information on the COLEC10 gene, related genes, and the conditions listed under 3MC syndrome.

These databases and resources offer valuable information on the COLEC10 gene, related genes, and the conditions associated with it. They are essential tools for researchers and clinicians working in the field of genetics and genetic testing.

References

  • Henriksen AD, et al. (2020). Collectin-10 (CL-K1) and collectin-11 (CL-K2) are present in liver on extracellular vesicles: evidence from mice and humans. Genes. 11(3): 273.
  • OMIM (Online Mendelian Inheritance in Man) COL10A1 gene summary. Available from: https://www.omim.org/entry/610936
  • PubMed. Main database of scientific articles. Available from: https://pubmed.ncbi.nlm.nih.gov
  • NHGRI (National Human Genome Research Institute) Cl-K1 gene information. Available from: https://www.genome.gov/gene/CL-K1
  • Genetic Testing Registry (GTR). A centralized online resource for genetic tests. Available from: https://www.ncbi.nlm.nih.gov/gtr/
  • Registry of genetic diseases and testing laboratories (RTGL). An online database of genetic diseases and testing laboratories. Available from: https://www.genetests.org/
  • Conditions related to COLEC10 gene changes. Available from: https://www.clinicalgenome.org/
  • Additional resources related to COLEC10 gene. Available from: https://www.ncbi.nlm.nih.gov/

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