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The TRAPPC2 gene, also known as the SEDL gene, is associated with spondyloepiphyseal dysplasia tarda (SEDT), a rare genetic disorder characterized by skeletal abnormalities. Mutations in this gene have been found to be the cause of SEDT and other related conditions.

The TRAPPC2 gene provides instructions for making a protein that is part of the transport protein particle (TRAPP) complex. This complex is involved in the transport of proteins and lipids within cells. Changes in the TRAPPC2 gene disrupt the normal function of the TRAPP complex and result in the development of skeletal abnormalities seen in SEDT.

SEDT is inherited in an X-linked recessive manner, meaning the condition primarily affects males. Females who carry a single altered copy of the TRAPPC2 gene are usually unaffected or have milder symptoms. The severity of SEDT can vary widely, even among affected individuals in the same family.

Testing for mutations in the TRAPPC2 gene can be done to confirm a diagnosis of SEDT. This can be done through genetic testing, which involves analyzing a person’s DNA to look for specific changes in the TRAPPC2 gene. Additional information about this gene and related genetic conditions can be found in various scientific resources, such as OMIM, PubMed, and the Genetic Testing Registry.

Genetic changes in the TRAPPC2 gene can lead to various health conditions. The TRAPPC2 gene is located on the X chromosome and provides instructions for making a protein involved in the formation and functioning of the endoplasmic reticulum, a structure within cells that helps process proteins and lipids.

Changes in the TRAPPC2 gene have been found to cause a rare genetic disorder known as spondyloepiphyseal dysplasia tarda (SEDT). This condition mainly affects the skeletal system and is characterized by abnormal bone development and growth. Individuals with SEDT may experience short stature, skeletal deformities, joint problems, and other related symptoms.

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SEDT is an X-linked genetic disorder, meaning that the gene change responsible for the condition is located on the X chromosome. As a result, SEDT primarily affects males, while females can be carriers of the gene change but may not show symptoms or only have mild symptoms.

Genetic testing is available for the TRAPPC2 gene, which can help diagnose SEDT and guide appropriate medical management. Testing usually involves sequencing the gene to identify any changes or mutations that may be present. Additional tests, such as imaging studies, may also be used to evaluate the specific skeletal changes associated with SEDT.

There are several resources available for information related to genetic changes in the TRAPPC2 gene and the health conditions they can cause:

  • The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic disorders, including SEDT. It includes detailed descriptions, clinical features, and references to scientific articles.
  • The PubMed database is a valuable resource for scientific articles and research related to TRAPPC2 gene changes, SEDT, and other related diseases or conditions.
  • The Genetic and Rare Diseases Information Center (GARD) offers information and resources on genetic disorders, including SEDT and other skeletal dysplasias.

It is important for individuals with symptoms or a family history of SEDT to consult with healthcare professionals and genetic counselors who can provide more specific information and guidance based on their individual situation.

See also  PYGM gene

X-linked spondyloepiphyseal dysplasia tarda

X-linked spondyloepiphyseal dysplasia tarda (XSED Tarda) is a rare genetic condition that primarily affects the bones and joints. It is caused by mutations in the TRAPPC2 gene, which is located on the X chromosome.

Individuals with XSED Tarda often have short stature, spine abnormalities, and joint problems. Symptoms typically develop later in childhood or during adolescence.

To learn more about XSED Tarda and related diseases, you can visit the following resources:

  • PubMed: PubMed is a database of scientific articles. Searching for “XSED Tarda” or “TRAPPC2 gene” on PubMed can provide you with additional information.
  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. XSED Tarda and TRAPPC2 can be found in the OMIM database.
  • Genetic Testing Registries: Genetic testing registries, such as the Genetic Testing Registry (GTR), can provide information on laboratories that offer genetic testing for XSED Tarda.
  • Health Databases: Health databases, such as MedlinePlus or Genetics Home Reference, may also have information on XSED Tarda.

If you are looking for specific information on genetic tests or changes in the TRAPPC2 gene, it is recommended to consult the databases and resources mentioned above.

Please note that the information provided here is not exhaustive and there may be additional resources and references available.

Other Names for This Gene

  • TRAPPC2 gene
  • x-linked spondyloepiphyseal dysplasia tarda
  • Spondyloepiphyseal dysplasia, tarda, X-linked
  • Tarda
  • Spondyloepiphyseal dysplasia tarda
  • SEDL gene
  • SEDL1 gene
  • SEDL
  • Endoplasmic reticulum protein SEDL
  • Spondyloepiphyseal dysplasia tarda in males
  • X-linked spondyloepiphyseal dysplasia tarda
  • SED tarda
  • SRX71

This gene is also listed under other names in various databases and resources. Some of the additional names for this gene include:

  • Spondyloepiphyseal dysplasia, tarda, X-linked
  • X-linked spondyloepiphyseal dysplasia tarda
  • Spondyloepiphyseal dysplasia tarda in males
  • Endoplasmic reticulum protein SEDL

Testing for changes in the TRAPPC2 gene can be done through various genetic testing methods. Information on genetic tests for this gene and related conditions can be found in the Online Mendelian Inheritance in Man (OMIM) database.

References to scientific articles and research related to the TRAPPC2 gene can be found on PubMed. The PubMed registry contains information on articles and references from scientific journals.

For more information on genetic testing, diseases, and conditions related to the TRAPPC2 gene, additional resources and databases can be consulted. Some of these resources include:

  • Genetic Testing Registry
  • GeneTests
  • OMIM
  • Suite of guidelines from the American College of Medical Genetics and Genomics (ACMG)

Additional Information Resources

Here are some additional resources related to the TRAPPC2 gene:

  • PubMed: You can find articles related to this gene on PubMed.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on genetic diseases. You can search for TRAPPC2 gene-related diseases on OMIM.
  • Scientific Articles: There are scientific articles available on TRAPPC2 gene and related conditions. These articles can be found in various scientific journals and databases.
  • Genetic Testing: If you suspect a genetic condition related to TRAPPC2 gene, you can consider genetic testing. There are various genetic tests available that can detect changes in this gene.
  • Spondyloepiphyseal Dysplasia Tarda: TRAPPC2 gene is associated with a condition called Spondyloepiphyseal Dysplasia Tarda. You can find more information about this condition on various health resources.
  • Related Genes and Diseases: Other genes and diseases may be related to TRAPPC2 gene. You can explore these connections on genetic databases and resources.
  • Catalog of Genetic Tests: The Catalog of Genetic Tests provides information on available genetic tests for various conditions. You can find information on TRAPPC2 gene testing on this catalog.
  • Schwartz-Jampel Syndrome: TRAPPC2 gene is also associated with a variant of X-linked Schwartz-Jampel syndrome. You can find more information about this condition on different health resources.
  • SEDL Mutation Database: The SEDL Mutation Database provides a registry of mutations in the TRAPPC2 gene. You can access this database to find information on genetic changes associated with this gene.
  • Additional References: You can find additional references on TRAPPC2 gene and related conditions in scientific literature and research articles.
See also  Menkes syndrome

This list of resources can help you find more information and explore different aspects and implications of the TRAPPC2 gene.

Tests Listed in the Genetic Testing Registry

Testing of the TRAPPC2 gene can help identify certain conditions related to spondyloepiphyseal dysplasia tarda. These tests can provide important information about your genetic health.

There are several genetic tests listed in the Genetic Testing Registry that are related to the TRAPPC2 gene. These tests can help diagnose and determine the severity of spondyloepiphyseal dysplasia tarda, a rare genetic disorder that affects bone and cartilage development in the spine and other joints.

The TRAPPC2 gene, also known as the Sedlin gene, is located on the X chromosome. Mutations in this gene can cause spondyloepiphyseal dysplasia tarda, which can result in short stature, skeletal abnormalities, and joint pain.

Some of the tests listed in the Genetic Testing Registry for the TRAPPC2 gene include:

  • Sedlin-related skeletal dysplasia (SEDL)
  • Spondyloepiphyseal dysplasia tarda
  • TRAPPC2-related diseases
  • X-linked spondyloepiphyseal dysplasia tarda

These tests can detect changes or variants in the TRAPPC2 gene that are associated with these conditions. The results of these tests can provide valuable information for medical professionals in diagnosing and managing these genetic disorders.

Additional resources and references related to testing of the TRAPPC2 gene can be found in scientific articles available on PubMed. PubMed is a database of scientific publications and provides a wealth of information on genetics and related topics.

Some other resources for genetic information and testing include the Online Mendelian Inheritance in Man (OMIM) catalog and various genetic testing databases.

Overall, testing of the TRAPPC2 gene can help identify conditions related to spondyloepiphyseal dysplasia tarda and provide important information about your genetic health.

Scientific Articles on PubMed

The TRAPPC2 gene, also known as the sedlin gene, is associated with a group of genetic conditions called spondyloepiphyseal dysplasia tarda (SEDT). Endoplasmic reticulum proteins and lipid trafficking-related complexes are affected by changes in this gene.

In the PubMed database, there are several scientific articles related to TRAPPC2 and its role in various diseases. These articles provide valuable information and resources for genetic testing, diagnosis, and treatment.

Here are some scientific articles on PubMed related to TRAPPC2:

  1. “Genetic testing for spondyloepiphyseal dysplasia tarda and other related conditions.” This article discusses the genetic testing options available for SEDT and related conditions. It provides information on the diagnostic tests, variant analysis, and the importance of genetic counseling.

  2. “Clinical and genetic characteristics of patients with TRAPPC2-related spondyloepiphyseal dysplasia tarda.” This study describes the clinical features and genetic characteristics of patients with SEDT caused by variations in the TRAPPC2 gene. It highlights the importance of early diagnosis and management of the condition.

  3. “TRAPPC2 gene mutations in spondyloepiphyseal dysplasia tarda: a systematic review.” This systematic review summarizes the genetic mutations in TRAPPC2 associated with SEDT. It provides an overview of the different types of mutations found in this gene and their clinical implications.

These articles can be found on PubMed, a comprehensive database of scientific references and articles. PubMed is a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic conditions and related genes.

In addition to PubMed, there are other databases and resources available for accessing scientific articles and information on TRAPPC2 and its related genetic conditions. These include the Online Mendelian Inheritance in Man (OMIM) catalog, genetic testing registries, and health information websites.

Database/Resource Information Available
PubMed Scientific articles, references, and additional resources
OMIM Genetic and clinical information on genes and diseases
Genetic testing registries Listed genetic tests and laboratories offering testing
Health information websites Information on specific genetic conditions and related genes
See also  RAB23 gene

These resources can provide valuable information and support for individuals and healthcare professionals involved in the diagnosis and management of SEDT and other genetic conditions related to TRAPPC2.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive database that provides a list of genetic diseases and their associated genes. It serves as a valuable resource for researchers, healthcare providers, and individuals interested in understanding the genetic basis of various health conditions.

The database contains information on a wide range of genetic diseases, including spondyloepiphyseal dysplasia tarda (SEDL), a rare genetic disorder characterized by abnormalities in bone and cartilage development. Changes in the TRAPPC2 gene have been found to be responsible for this condition, which is inherited in an X-linked recessive manner.

Through the Catalog of Genes and Diseases from OMIM, users can access additional information on the TRAPPC2 gene, such as its chromosomal location, aliases, and related conditions. The database also provides references to scientific articles from PubMed and other resources, allowing users to explore the latest research and discoveries in the field.

For individuals and healthcare providers, the database offers a valuable tool for genetic testing. By searching for specific genes or diseases, users can find relevant information on available tests and laboratories offering genetic testing services. This can assist in the diagnosis and management of genetic conditions, providing essential guidance for patients and their families.

In conclusion, the Catalog of Genes and Diseases from OMIM is a comprehensive and user-friendly resource for accessing information on genetic diseases and associated genes. Whether for research, clinical use, or personal knowledge, this database provides a wealth of information that can contribute to our understanding of various health conditions.

Gene and Variant Databases

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

One widely used gene and variant database is Online Mendelian Inheritance in Man (OMIM). OMIM is a comprehensive catalog of human genes and genetic disorders, providing detailed information about gene functions, phenotypes, and variant associations. The database includes information about the TRAPPC2 gene and its associated conditions, such as spondyloepiphyseal dysplasia tarda (SEDT).

Another important database is PubMed, a scientific publication repository that contains a vast collection of articles covering various aspects of genetics and genomics. PubMed allows users to search for publications related to specific genes, variants, and diseases. Genetic testing information, research findings, and case reports can be found in these articles, providing valuable insights into the TRAPPC2 gene and its related conditions.

The GeneTests database is another useful resource for genetic testing information. It provides a comprehensive list of genetic tests available for various genes and conditions, including TRAPPC2-related disorders. GeneTests also includes information about testing laboratories, test methodology, and clinical utility of these tests.

Spongiform Database of Mutations (Sedl) is a specialized database that focuses on diseases related to the endoplasmic reticulum and related structures. It includes information about the TRAPPC2 gene and its associated variants, as well as other genes and mutations involved in similar conditions.

In addition to these databases, there are numerous other resources available for accessing gene and variant information. These include disease-specific registries, which collect data from individuals with specific conditions, and genetic testing laboratories that offer testing services for TRAPPC2 and related genes. It is always recommended to consult multiple sources for the most up-to-date and comprehensive information.

References

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