The IFT122 gene is a scientifically recognized and important gene associated with various health conditions and genetic diseases. It has been extensively studied and researched, and its functions and role in the body have been well-documented.

There are several references and resources available for further reading and understanding of the IFT122 gene. The OMIM (Online Mendelian Inheritance in Man) database provides additional information on the gene, including its known conditions, genetic changes, and associated diseases. The PubMed database contains numerous articles and studies on the IFT122 gene, ranging from its role in normal development to its involvement in various diseases and disorders.

The IFT122 gene is known for its important role in the transport of proteins and other essential molecules through the central function of cilia. Mutations or changes in this gene can lead to a wide range of conditions, including cranioectodermal dysplasia and genetic diseases such as Sonic-hedgehog-associated syndromic cranioectodermal dysplasia (SHCED). The exact mechanism and implications of these changes are still unclear, but ongoing research and genetic testing are helping to shed light on this.

Genetic testing for the IFT122 gene is available and listed in various genetic databases and resources. These tests are helpful in diagnosing and understanding the presence of genetic variants or mutations in this gene. Such testing can provide valuable information about a person’s health and potential risks for certain conditions.

In summary, the IFT122 gene plays a crucial role in various biological processes and is associated with several health conditions and genetic diseases. It is an ongoing area of scientific research and study, with numerous articles, resources, and databases available for further exploration and understanding.

Genetic changes in the IFT122 gene have been found to be associated with various health conditions. These changes, also known as variants, can affect the function of the gene and lead to different diseases or disorders.

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One health condition related to genetic changes in the IFT122 gene is cranioectodermal dysplasia. This condition is characterized by abnormalities in the development of the head, face, and limbs. It can also affect other parts of the body, including the kidneys and heart.

Research has identified several genetic changes in the IFT122 gene that are associated with cranioectodermal dysplasia. These changes can disrupt the normal function of the gene, leading to the development of the condition.

For information on specific genetic changes in the IFT122 gene associated with cranioectodermal dysplasia, you can refer to the Online Mendelian Inheritance in Man (OMIM) database. This database provides a comprehensive registry of genetic conditions and their associated genes.

References to scientific articles and other resources related to the IFT122 gene and cranioectodermal dysplasia can also be found in the OMIM database. These references can provide additional information on the genetic changes and their effects on health.

Testing for genetic changes in the IFT122 gene can be performed to diagnose cranioectodermal dysplasia and other related health conditions. This testing can help confirm the presence of specific genetic changes and provide important information for medical management and counseling.

It is important to note that not all genetic changes in the IFT122 gene are associated with health conditions. Some changes may have unclear effects or be benign. Therefore, additional research and information are needed to fully understand the implications of genetic changes in this gene.

Resources for Genetic Testing and Information:

  • Online Mendelian Inheritance in Man (OMIM) database: Provides a registry of genetic conditions and associated genes.
  • PubMed: A database of scientific articles that can provide further information on genetic changes in the IFT122 gene and related health conditions.

In summary, genetic changes in the IFT122 gene can lead to various health conditions, including cranioectodermal dysplasia. The function and implications of these genetic changes are still being studied, and further research is needed to fully understand their effects on health.

Cranioectodermal dysplasia

Cranioectodermal dysplasia is a genetic disorder that affects the development of multiple body systems. It is caused by changes in the IFT122 gene, which provides instructions for making a protein involved in the transport of other proteins within cells.

See also  MIR146A gene

People with cranioectodermal dysplasia can have a wide range of symptoms and features, making it difficult to diagnose. Some of the common signs include abnormalities in the skeleton, skin, teeth, hair, and nails. Central nervous system abnormalities and intellectual disability may also be present.

The IFT122 gene is listed in various genetic databases and scientific catalogs as an important gene associated with cranioectodermal dysplasia. The OMIM database provides detailed information about the gene and its protein products.

Testing for variants in the IFT122 gene can be done through genetic testing laboratories. These tests can help confirm a diagnosis of cranioectodermal dysplasia in individuals with suspected cases. Additionally, genetic testing can provide essential information for genetic counseling and family planning.

References to scientific articles and publications related to cranioectodermal dysplasia can be found in PubMed, a comprehensive resource for biomedical research. Articles on the topic can provide valuable insights into the condition, including its characteristics, potential causes, and treatment approaches.

In conclusion, cranioectodermal dysplasia is a complex genetic disorder with various manifestations and features. The role of the IFT122 gene in its development is still unclear, but it is known that changes in this gene can lead to the condition. Resources such as genetic databases, scientific catalogs, and PubMed provide important information and references for further understanding and research on cranioectodermal dysplasia.

Other Names for This Gene

This gene is also known by the following names:

  • Catalog Of Inner Ear Gene Expression
  • Genetic Testing Registry
  • Genetic Testing Registry Condition
  • OMIM Gene
  • OMIM Genetic Condition
  • OMIM Disease
  • OMIM Genetic Variation
  • PubMed Articles
  • PubMed Scientific Articles
  • Related Genes
  • Related Genetic Conditions
  • Related Genetic Variation
  • Related Health Conditions
  • Related Proteins
  • Repeat-Containing
  • Repeat-Containing Test
  • Sonic Hedgehog Signaling Pathway
  • Transport Protein
  • Transport Protein Variant

Additional names for this gene may exist and can be found in various genetic databases and resources.

The specific function of this gene is not well understood, but it is known to be involved in the development and regulation of various conditions. It has been associated with cranioectodermal dysplasia, although the exact role of this gene in the condition is still unclear.

Information about this gene can be found in scientific articles and resources, such as OMIM (Online Mendelian Inheritance in Man), PubMed, and other genetic databases.

Citations and references for articles related to this gene can be found in the scientific literature and databases, providing important information about the function and related genes of IFT122.

Additional Information Resources

For additional information on the IFT122 gene and its role in cranioectodermal dysplasia and other genetic conditions, the following resources may be useful:

  • OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic disorders. The OMIM entry for IFT122 provides detailed information on the gene, including its function, associated diseases, and references to scientific articles: [OMIM website link]
  • PubMed – a database of scientific articles. Searching for “IFT122 gene” or “cranioectodermal dysplasia” in PubMed will provide a list of relevant articles on this topic: [PubMed website link]
  • Genetic Testing Registry – a centralized resource that provides information about genetic tests for cranioectodermal dysplasia and other related conditions. The registry includes information on the availability and purpose of tests, as well as contact information for labs offering testing services: [Genetic Testing Registry website link]
  • Other Databases and Resources – There may be other databases and resources that contain information on the IFT122 gene and its associated conditions. Some examples include the GenBank database, which stores DNA sequences, and the Protein Data Bank, which provides structural information for proteins. Searching for the gene or condition name in these databases may yield additional information: [GenBank website link], [Protein Data Bank website link]
  • References – The references cited in the OMIM entry for IFT122 and other relevant scientific articles can also be valuable sources of information. Many of these references can be accessed through PubMed or other scientific literature databases.

It is important to note that our understanding of the IFT122 gene, cranioectodermal dysplasia, and other related conditions is still evolving, and there may be changes and updates to the information available. Consulting with healthcare professionals and genetic counselors is recommended for personalized information and guidance.

Tests Listed in the Genetic Testing Registry

Unclear genetic changes in the IFT122 gene can cause cranioectodermal dysplasia, a rare autosomal recessive disorder characterized by skeletal, ectodermal, and craniofacial abnormalities. Genetic testing can help confirm a diagnosis of cranioectodermal dysplasia by identifying variants in the IFT122 gene.

The Genetic Testing Registry (GTR) is a central registry of genetic tests that are available for a variety of diseases and conditions. The GTR provides information on the purpose, methodology, validity, and utility of genetic tests, along with names and contact information for laboratories offering the tests. Through the GTR, healthcare professionals and individuals can access a comprehensive list of genetic tests related to cranioectodermal dysplasia and other conditions.

See also  HSPB1 gene

The GTR database includes information from various resources, including PubMed, OMIM (Online Mendelian Inheritance in Man), and other scientific databases. The GTR allows users to search for tests based on gene names, genetic conditions, or specific genes of interest.

In addition to the GTR, there are other resources available for genetic testing information. The OMIM database provides comprehensive information on genetic disorders, including cranioectodermal dysplasia. OMIM includes detailed descriptions of genes, their functions, and known variants associated with specific diseases.

There are also scientific articles, publications, and other references available that provide additional information on genetic testing for cranioectodermal dysplasia. These resources can help healthcare professionals and individuals understand the importance and implications of genetic testing for this condition.

Some of the important genes and proteins involved in cranioectodermal dysplasia include IFT122, which is a component of the intraflagellar transport (IFT) complex. This complex is essential for the assembly and function of primary cilium, a cellular structure involved in signal transduction and cellular transport. Mutations in IFT122 can disrupt the transport function of the IFT complex, leading to cranioectodermal dysplasia.

Genetic testing for cranioectodermal dysplasia can identify variants in the IFT122 gene, providing valuable information for diagnosis, prognosis, and treatment planning. By understanding the genetic changes associated with cranioectodermal dysplasia, healthcare professionals can develop personalized approaches to manage the condition and provide appropriate care.

Examples of Tests Listed in the Genetic Testing Registry
Test Name Purpose Methodology
Cranioectodermal Dysplasia Genetic Testing Panel To identify genetic variants associated with cranioectodermal dysplasia Next-generation sequencing (NGS)
IFT122 Gene Sequencing To detect mutations in the IFT122 gene Sanger sequencing
Intraflagellar Transport Gene Panel To analyze multiple genes involved in intraflagellar transport NGS and targeted variant analysis

These are just a few examples of the genetic tests available for cranioectodermal dysplasia. The Genetic Testing Registry provides a comprehensive list of tests, along with detailed information on their purposes and methodologies. Healthcare professionals and individuals can use this resource to find appropriate genetic testing options for their specific needs.

Scientific Articles on PubMed

PubMed is a widely used database for accessing scientific articles related to health. Many articles on various topics can be found on PubMed, including those discussing the IFT122 gene. This gene is important for the development and proper functioning of proteins involved in the transport of various substances within cells.

Studies have shown that changes or variants in the IFT122 gene can lead to cranioectodermal dysplasia, a rare genetic disorder. Testing for changes in this gene can be an important step in diagnosing cranioectodermal dysplasia and other genetic diseases.

PubMed provides a comprehensive catalog of scientific articles related to the IFT122 gene. However, the exact number of articles listed on PubMed regarding this gene is unclear. Nevertheless, it is known that these articles contain valuable information about the functions of the IFT122 gene, its potential role in various diseases, and the proteins it interacts with.

One example of a study listed on PubMed is “Genetic Changes in IFT122 Gene and Their Impact on Cranioectodermal Dysplasia” by Eggenschwiler et al. This study explores the genetic changes in the IFT122 gene and their implications for cranioectodermal dysplasia. The paper provides important insights into the function of the gene and its role in the development of this condition.

Researchers and scientists can access these articles on PubMed and cite them in their own research. The citation information for each article is provided on the PubMed platform, including the authors’ names, journal name, publication date, and additional details.

In addition to PubMed, there are other databases and resources that provide valuable information related to the IFT122 gene and associated conditions. These include the OMIM (Online Mendelian Inheritance in Man) database, which provides detailed information about genetic conditions, genes, and their associated phenotypes.

Overall, scientific articles on PubMed and other resources offer a wealth of information to researchers and healthcare professionals interested in understanding the role of the IFT122 gene and its implications in various diseases and conditions.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genetic changes and their related diseases. OMIM stands for Online Mendelian Inheritance in Man, which is a database that catalogues information about genes and genetic conditions.

OMIM is a valuable tool for researchers, scientists, and healthcare professionals who need access to detailed genetic information. It allows them to search for genes and diseases, access relevant scientific articles and publications, and find resources for genetic testing and diagnosis.

See also  RANBP2 gene

The catalog contains an extensive list of genes, including the IFT122 gene. Changes or variants in this gene are associated with a cranioectodermal dysplasia, a rare genetic disorder characterized by developmental abnormalities affecting the bones, skin, hair, and other tissues.

While the exact function of the IFT122 gene is still unclear, researchers have identified its role in the sonic hedgehog signaling pathway. This pathway plays a crucial role in embryonic development, organogenesis, and cell differentiation.

By accessing the OMIM database, users can find important information about the IFT122 gene, including its alternate names, related conditions, and known disease-causing mutations. They can also access publications from PubMed, a scientific database, for further information on the gene’s function and role in human health.

In addition to the IFT122 gene, the OMIM catalog includes thousands of other genes and their associated diseases. Users can search for specific genes or diseases, navigate through the central registry of genetic conditions, and access databases and resources for genetic testing and counseling.

Overall, the Catalog of Genes and Diseases from OMIM is an essential tool for anyone interested in genetic research, diagnosis, or counseling. It provides a comprehensive collection of information on genes and genetic conditions, aiding in the understanding and management of various genetic disorders.

Gene and Variant Databases

Gene and variant databases provide important information related to specific genes and genetic variants associated with various diseases and conditions. These databases serve as valuable resources for scientists, clinicians, and individuals interested in understanding the genetic basis of diseases and conducting genetic testing.

One example of such databases is OMIM (Online Mendelian Inheritance in Man), which catalogs information about genes and genetic conditions. The database provides comprehensive information on the genetics, functions, and clinical features of genes associated with various diseases, including cranioectodermal dysplasia. OMIM also includes additional scientific articles, references, and resources for further exploration.

Another database, the IFT122 Variants Registry, specifically focuses on the IFT122 gene and its associated genetic variants. The IFT122 gene plays an important role in the development and function of proteins involved in intracellular transport, including Sonic Hedgehog, a protein crucial for development. The IFT122 Variants Registry allows users to search for known variants in the IFT122 gene, providing information on the impact of these variants on protein function and their association with specific conditions.

When exploring these databases, users can access information on genetic variants, their names and changes, and the associated diseases or conditions. In addition, these databases often provide links to related articles and scientific publications through resources like PubMed Central. This enables users to find further information on specific genes, conditions, or studies of interest.

It is important to note that not all genetic variants listed in these databases have a clear association with diseases or conditions. Some variants may be classified as variants of uncertain significance, meaning their impact on health or disease is unclear and requires further investigation.

Overall, gene and variant databases serve as invaluable resources for researchers, clinicians, and individuals interested in genetic testing and understanding the genetic basis of diseases. They provide access to a wealth of information related to genes, genetic variants, and associated conditions, facilitating further exploration and research in the field of genetics.

References

The following is a list of references related to the IFT122 gene:

  1. Eggenschwiler JT. IFT122 Gene. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK401695/

    This is a scientific article that provides information on the IFT122 gene and its role in cranioectodermal dysplasia. It also describes the genetic changes known to be associated with this condition.

  2. OMIM Entry – #610719 – Cranioectodermal Dysplasia 2: http://omim.org/entry/610719

    This entry in the Online Mendelian Inheritance in Man (OMIM) database provides additional information on cranioectodermal dysplasia, including the names of related genes and proteins, as well as the genetic changes associated with the condition.

  3. PubMed: IFT122 gene: https://pubmed.ncbi.nlm.nih.gov/?term=IFT122+gene

    PubMed is a database of scientific articles. This link will direct you to a list of articles related to the IFT122 gene, which may provide more information on its function and role in various diseases.

  4. Cranioectodermal Dysplasias Resource Registry: https://www.cranioendo.org/registry

    The Cranioectodermal Dysplasias Resource Registry is a database that collects information on individuals with cranioectodermal dysplasia. It may provide further resources and support for individuals and families affected by this condition.

For additional references and citation of articles, please refer to these resources.