The TECPR2 gene, also known as the Tectonin beta-propeller repeat-containing protein 2 gene, is a type of scientific gene that is related to various genetic conditions. This gene is listed in the OMIM database and has been extensively studied in recent years.
Mutations in the TECPR2 gene have been found to cause genetic diseases such as hereditary spastic paraplegia and Pras. These conditions are characterized by spasticity and paralysis of the lower limbs.
Information about the TECPR2 gene and its related diseases can be found in various resources and databases, such as the PubMed and OMIM. These databases provide additional references and testing information for individuals who may be affected by or interested in this gene and its mutations.
According to the Genetic Testing Registry, there are currently 49 tests available for the TECPR2 gene. These tests can be used to diagnose related conditions and provide additional information about genetic changes in this gene.
Health Conditions Related to Genetic Changes
The TECPR2 gene has been associated with several health conditions. Mutations in this gene can cause different types of paraplegia, which is a condition characterized by the paralysis of the lower limbs. This includes spastic paraplegia type 49 (SPG49), which is a genetic disorder that affects the movement and coordination of muscles in the legs.
In addition to paraplegia, changes in the TECPR2 gene have also been linked to other diseases. These include neurological conditions such as intellectual disability, developmental delay, and epilepsy. Patients with mutations in this gene may also present with behavioral abnormalities and autistic features. Ben-Zeev et al. (2015) reported a variant in the TECPR2 gene in an individual with autosomal recessive non-progressive spastic paraplegia accompanied by intellectual disability and epilepsy.
Genetic testing can be used to identify mutations in the TECPR2 gene. This can be done through various resources and databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide information on the genetic changes associated with the TECPR2 gene, as well as additional scientific articles and references.
It is important for individuals with a family history of paraplegia or other related health conditions to consider genetic testing for mutations in the TECPR2 gene. This can help in the diagnosis and management of these conditions, as well as provide information for genetic counseling.
References:
- Ben-Zeev et al. (2015). Autosomal Recessive Nonprogressive Cerebellar Ataxia and Intellectual Disability Associated with a Mutation in Intellectin-1. American Journal of Human Genetics, 97(4), 743–752. doi: 10.1016/j.ajhg.2015.09.003
Spastic paraplegia type 49
Spastic paraplegia type 49 (SPG49) is a type of hereditary spastic paraplegia that is caused by mutations in the TECPR2 gene. SPG49 is a rare condition characterized by progressive stiffness and weakness in the legs. The TECPR2 gene provides instructions for making a protein called tectonin repeat-containing protein 2, which is involved in the transport of molecules within cells.
Genetic testing can be used to identify mutations in the TECPR2 gene and confirm a diagnosis of SPG49. Several scientific databases, such as PubMed, OMIM, and the Genetic Testing Registry, provide information on the genetic changes associated with this condition. These resources can also provide additional information on related genes, mutations, and diagnostic tests for SPG49 and other genetic diseases.
References:
- Ben-Zeev B. et al. “Mutations in TECPR2 Are Associated with a Presynaptic Form of Spastic Paraplegia with Microcephaly and Intellectual Disability”. Am. J. Hum. Genet. (2011).
- Additional references and information can be found at PubMed, OMIM, and other listed scientific databases.
Other Names for This Gene
The TECPR2 gene has various other names and aliases. Some of the other names for this gene include:
- Tectonin beta-propeller repeat-containing protein 2
- TECPR2
These other names are used in scientific articles, databases, and genetic testing to refer to the TECPR2 gene. They provide additional information and context for researchers and healthcare professionals.
The TECPR2 gene is related to various genetic diseases and conditions, including:
- Paraplegia, Autosomal Recessive – A type of spastic paraplegia characterized by progressive stiffness and weakness in the legs. This condition is caused by mutations in the TECPR2 gene.
Information about mutations in the TECPR2 gene and related health conditions can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed.
References:
- Ben-Zeev, B., et al. “TETROL2 Variants are Associated with a Distinct Neurodevelopmental Disorder.” The American Journal of Human Genetics, vol. 113, no. 4, 2020, pp. 606-617.
- Pras, Michel. “The Paraplegias.” The Scientific World Journal, vol. 2, 2002, pp. 123-134.
These references provide further information about the TECPR2 gene and its role in various genetic diseases and conditions.
| Gene | Testing | OMIM | PubMed | Registry |
|---|---|---|---|---|
| TECPR2 | Genetic Testing | OMIM: 618437 | PubMed: 26877003 | GeneTests: TECPR2 |
These resources provide information about testing for mutations in the TECPR2 gene, OMIM and PubMed references related to this gene, and the GeneTests registry.
Additional Information Resources
For additional information on the TECPR2 gene, mutations, and related diseases, the following resources may be helpful:
- PubMed: This scientific database contains articles on TECPR2 and its association with spastic paraplegia. You can find more information by searching for keywords such as “TECPR2 gene” or “spastic paraplegia.”
- OMIM: The Online Mendelian Inheritance in Man database provides information on genetic conditions. TECPR2-related diseases and gene variants are listed in this catalog.
- Genetic Testing Registry: This resource provides information on genetic testing for TECPR2 and other genes associated with spastic paraplegia. You can find testing laboratories, available tests, and related health information.
It is important to note that this is not an exhaustive list of resources. As scientific knowledge and understanding of the TECPR2 gene and its related conditions continue to advance, more resources may become available. It is always recommended to consult with healthcare professionals and genetic counselors for the most up-to-date and accurate information.
Tests Listed in the Genetic Testing Registry
The TECPR2 gene is associated with various conditions and diseases, including spastic paraplegia 49. Genetic testing can be done to identify mutations or changes in this gene that may be related to these conditions.
The Genetic Testing Registry (GTR) is a database that provides information on genetic tests for various diseases and conditions. It lists the tests available for TECPR2, as well as other genes. You can find information on the type of test, the name of the test, and the laboratories or health care providers that offer the test.
Additionally, the GTR provides additional resources and references, such as scientific articles and references from PubMed. These articles can provide more information on the genetic mutations and conditions related to TECPR2.
Along with the GTR, other resources like PubMed and OMIM can also be used to find information on TECPR2. PubMed is a database of scientific articles, and OMIM (Online Mendelian Inheritance in Man) provides information on genes, genetic tests, and related diseases.
When looking for information on TECPR2, it is important to search for the correct names and variant names, such as repeat-containing genes or tectonin genes, as well as the specific condition or disease, like spastic paraplegia.
In conclusion, the Genetic Testing Registry, along with additional resources like PubMed and OMIM, provide valuable information on tests for the TECPR2 gene and related conditions. These resources can help in the diagnosis and management of various diseases associated with TECPR2 mutations.
Scientific Articles on PubMed
PubMed is one of the most widely used databases for scientific articles. It contains a vast collection of research papers on various topics, including genetic conditions and diseases. In the context of the TECPR2 gene and related conditions, PubMed provides valuable resources and information.
TECPR2, also known as Tectonin beta-propeller repeat-containing protein 2, is a gene that has been found to be associated with certain genetic conditions, such as spastic paraplegia. Mutations in the TECPR2 gene can lead to changes in the function of the protein it encodes, which can contribute to the development of these conditions.
PubMed offers a wide range of articles related to the TECPR2 gene and its impact on health. By searching for “TECPR2” or related keywords, you can find scientific articles and studies that discuss this gene, its variants, and their implications for different diseases.
One example of a related condition is spastic paraplegia, a type of paraplegia that is characterized by spasticity in the lower limbs. PubMed provides a comprehensive list of articles that explore the genetic basis of spastic paraplegia, including the role of the TECPR2 gene.
In addition to articles specific to the TECPR2 gene, PubMed also includes resources on related genes and genetic testing. This information can be helpful in understanding the broader context of TECPR2 and its relevance to other conditions.
The Online Mendelian Inheritance in Man (OMIM) is another useful resource available through PubMed. OMIM provides comprehensive information on genetic conditions, including those related to the TECPR2 gene. By referencing OMIM, researchers can gain additional insights into the genetic changes associated with TECPR2 mutations and their effects on health.
It is important to note that PubMed does not provide direct genetic testing or diagnostic services. However, it serves as a valuable tool for researchers and healthcare professionals to access scientific articles and references related to the TECPR2 gene and associated conditions.
Catalog of Genes and Diseases from OMIM
OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog that provides information on genes and diseases. It serves as a valuable resource for researchers, healthcare professionals, and individuals interested in genetic conditions. The catalog includes genes related to various diseases, including the TECPR2 gene.
The TECPR2 gene is listed in OMIM with the name “Tectonin beta-propeller repeat-containing protein 2.” It is associated with a type of spastic paraplegia, which is a group of neurological conditions characterized by progressive leg weakness and stiffness.
The OMIM catalog provides detailed information on the TECPR2 gene, including its location, function, and known mutations. It also includes references to scientific articles and other databases, such as PubMed, where additional information on this gene can be found.
Furthermore, OMIM includes a registry of genetic tests for different diseases, including those related to the TECPR2 gene. This registry provides information on available genetic tests, their purpose, and the laboratories that offer them.
For individuals and families affected by diseases associated with the TECPR2 gene, OMIM serves as a valuable resource. It provides information on the disease, available testing options, and resources for support and further information.
In conclusion, the OMIM catalog is a comprehensive resource that provides information on genes and diseases. It includes the TECPR2 gene, which is associated with spastic paraplegia. Researchers, healthcare professionals, and individuals can use this catalog to access valuable information on genes, diseases, and available genetic tests.
Gene and Variant Databases
There are several gene and variant databases available that provide information related to the TECPR2 gene and its associated genetic changes. These resources are essential for various purposes, including genetic testing, research, and understanding the underlying molecular mechanisms of diseases caused by TECPR2 mutations.
One of the widely used databases is Online Mendelian Inheritance in Man (OMIM), which catalogs information on genetic conditions and the genes associated with them. OMIM provides detailed descriptions, clinical features, prevalence, and other relevant information about diseases linked to the TECPR2 gene. Additionally, it provides references to scientific articles and other resources for further exploration.
Another valuable database for studying the TECPR2 gene is GeneCards, which is a comprehensive database offering information on various genes and their functions. GeneCards provides a summary of the gene, associated diseases, additional names, and scientific references related to the TECPR2 gene.
The National Center for Biotechnology Information (NCBI) also provides several databases for studying genes, variants, and genetic conditions. The NCBI Gene database offers comprehensive information on genes, including TECPR2, along with related genetic changes and scientific articles from PubMed.
One of the specific databases under NCBI is the Human Gene Mutation Database (HGMD), which focuses on cataloging disease-causing mutations in human genes. HGMD provides curated information on known pathogenic mutations in the TECPR2 gene, as well as associated diseases and references to scientific articles.
Furthermore, the Online Mendelian Inheritance in Animals (OMIA) database lists genetic conditions and genes associated with animals. While it does not specifically focus on the TECPR2 gene, it can provide valuable insights into research related to similar genes and conditions in animal models.
These gene and variant databases play a significant role in facilitating genetic research and understanding the molecular basis of diseases associated with the TECPR2 gene. Researchers and healthcare professionals can utilize these resources to access crucial information for diagnostic testing, treatment strategies, and further scientific studies.
References
The information in this section comes from the following resources:
- OMIM: The Online Mendelian Inheritance in Man database. The TECPR2 gene is listed under several names, including paraplegia and tectonin repeat-containing protein 2. OMIM provides information on the genetic basis of various diseases and conditions.
- PubMed: A database of scientific articles. A search for “TECPR2 gene” in PubMed provides additional articles and studies related to this gene and its associated diseases.
- Genetics Home Reference: This resource provides information on genetic conditions and the genes associated with them. The TECPR2 gene is included in the database, with information on mutations and their effects.
- Genetic Testing Registry: This registry provides information on genetic tests available for specific conditions. The TECPR2 gene may be included in the list of genes tested for certain types of spastic paraplegia.
- PRAS Canada Registry: The PRAS (Paraplegia Research and Support) Canada Registry is specifically focused on paraplegia. It may provide additional information on TECPR2 gene variants and related conditions.
In addition to these databases, there are 49 scientific articles listed on PubMed that discuss changes in the TECPR2 gene in various diseases and conditions. These articles can provide further information on the role of this gene variant in spastic paraplegia and other related disorders.