The TNNI2 gene, also known as Troponin I type 2 (cardiac), is a gene that encodes for a protein involved in muscle contraction. It is one of several genes in the troponin complex, which plays a crucial role in regulating the interaction between actin and myosin in skeletal and cardiac muscles.
Changes in the TNNI2 gene have been associated with a variety of conditions, including skeletal muscle diseases and contractures. One specific condition related to TNNI2 gene variants is the Sheldon-Hall syndrome, characterized by joint contractures and other skeletal abnormalities.
Additional information about the TNNI2 gene can be found through various resources such as scientific articles, genetic databases, and health registries. The OMIM database and PubMed provide references and scientific articles related to this gene.
Genetic testing can be done to detect changes in the TNNI2 gene and aid in the diagnosis of related conditions. Fast-twitch skeletal muscles are specifically affected in individuals with variants of this gene, leading to contractures and other muscle-related symptoms.
Overall, the TNNI2 gene and its variants have been the subject of scientific research and are important in understanding muscle contraction and related diseases. Resources such as genetic testing and health registries provide valuable information for individuals and healthcare professionals.
Health Conditions Related to Genetic Changes
In the scientific field of genetics, the TNNI2 gene has been identified as having a role in various health conditions. One such condition is Sheldon-Hall Syndrome, which is characterized by skeletal muscle contractures and muscle weakness. The TNNI2 gene is responsible for the production of troponin, a protein complex that controls muscle contraction.
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Genetic changes in the TNNI2 gene can result in a variant of Sheldon-Hall Syndrome, known as the fast-twitch skeletal muscles variant. This specific genetic variant leads to thin muscles and additional health complications.
To identify genetic changes in the TNNI2 gene and diagnose related health conditions, genetic testing is available. Testing involves analyzing the DNA sequence of the gene to detect any changes or mutations. These tests can be performed in specialized laboratories or through commercial genetic testing companies.
In addition to genetic testing, various resources are available to gather information on health conditions related to genetic changes in the TNNI2 gene. Scientific databases, such as PubMed and OMIM, provide articles, references, and other related information. The Sheldon-Hall Syndrome Registry and other similar databases catalog information on individuals with this syndrome and its genetic changes.
It is important to note that the TNNI2 gene is not solely associated with Sheldon-Hall Syndrome. Genetic changes in this gene can potentially contribute to other health conditions as well. Therefore, individuals experiencing symptoms or undergoing genetic testing should consult with healthcare professionals to fully understand the implications of the genetic changes and their impact on overall health.
Health Conditions Related to Genetic Changes – Summary:
- Sheldon-Hall Syndrome is one of the health conditions related to genetic changes in the TNNI2 gene.
- Genetic changes in the TNNI2 gene can result in thin muscles and muscle weakness.
- Genetic testing is available to identify genetic changes in the TNNI2 gene and diagnose related health conditions.
- Scientific databases such as PubMed and OMIM offer articles, references, and other resources related to this topic.
- The Sheldon-Hall Syndrome Registry and similar databases catalog information on individuals with this syndrome and its genetic changes.
- TNNI2 gene may also be associated with other health conditions besides Sheldon-Hall Syndrome.
Sheldon-Hall syndrome
Sheldon-Hall syndrome is a genetic disorder that affects skeletal muscles, causing contractures and muscle weakness. It is caused by changes in the TNNI2 gene, which is responsible for encoding a protein called troponin I that is involved in muscle contraction.
This syndrome is characterized by various physical features, including joint deformities, short stature, and distinctive facial abnormalities. Individuals with Sheldon-Hall syndrome may also have difficulty with motor skills, such as walking and fine motor coordination.
Diagnosis of Sheldon-Hall syndrome can be confirmed through genetic testing, which analyzes the TNNI2 gene for any variants or changes. Additional tests may be conducted to assess muscle function and related health conditions.
Information about Sheldon-Hall syndrome can be found in various resources, including scientific articles, databases, and registries. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on this syndrome, including associated genes and related conditions.
For more information on testing and resources, the Genetic and Rare Diseases (GARD) Information Center offers free resources and a registry of genetic testing labs. PubMed, a database of scientific articles, can also provide further research and references on Sheldon-Hall syndrome.
In summary, Sheldon-Hall syndrome is a genetic disorder caused by changes in the TNNI2 gene. It affects skeletal muscles, causing contractures and muscle weakness. Testing and resources are available for further information on this syndrome and related conditions.
Other Names for This Gene
The TNNI2 gene is also known by other names:
- Fast-twitch skeletal muscle troponin I2
- SHNI
This gene is related to conditions and diseases such as:
- Sheldon-Hall syndrome
- Skeletal muscle contractures of various types
Other names for Sheldon-Hall syndrome include:
- Arthrogryposis multiplex congenita, distal, type 2B
- Contractions, distal, with or without skeletal muscle involvement
For more information on this gene and related conditions, you can refer to the following resources:
- OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic disorders
- PubMed – a database of scientific articles
- Genetic Testing Registry – a resource for genetic testing information
Additional references and articles on TNNI2 gene and related diseases can also be found in these resources.
Additional Information Resources
- Genetic Testing
- Sheldon-Hall Syndrome – The TNNI2 gene is associated with this genetic condition. Genetic tests can be performed to identify changes in this gene.
- Fast-twitch skeletal muscle fibers – Genetic tests can also be conducted to determine changes in genes related to fast-twitch skeletal muscle fibers.
- Online Databases and Registries
- PubMed – This scientific database contains articles and references related to TNNI2 gene, Sheldon-Hall Syndrome, and other related diseases and conditions.
- Genetests – This free online resource provides information about genetic tests available for TNNI2 gene and other genes associated with skeletal muscle contractures, thin or thick muscles, and other related conditions.
- Other Resources
- Health-related Websites – Websites like WebMD and Mayo Clinic offer articles and information about the TNNI2 gene, Sheldon-Hall Syndrome, and related health conditions.
- Scientific Catalogs – Various scientific catalogs list the TNNI2 gene and related genes involved in skeletal muscle contraction.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry is a valuable resource for obtaining information about tests related to the TNNI2 gene. This registry provides a comprehensive catalog of genetic tests for various conditions, including those related to muscle contraction diseases, such as Sheldon-Hall syndrome.
Tests listed in the registry can help in the identification of changes in the TNNI2 gene that may be associated with health conditions. By performing these tests, healthcare providers can gain a better understanding of the genetic basis of various diseases and offer appropriate care to affected individuals.
Scientific articles and publications available from resources such as PubMed and OMIM are often referenced in the registry to provide additional information on the tests and the TNNI2 gene. These resources can be accessed to gather more in-depth knowledge on the topic.
Tests listed for Sheldon-Hall syndrome and other related conditions can aid in the diagnosis of muscle contractures. These tests may involve the analysis of genes, including the TNNI2 gene, which is associated with skeletal muscles and fast-twitch muscles.
The Genetic Testing Registry serves as a central database for information on genetic tests, providing details on the various genes involved, including the TNNI2 gene. This registry offers free access to information on conditions, genes, and available tests, making it a valuable resource for healthcare professionals and researchers.
Key Features of the Genetic Testing Registry:
- Comprehensive catalog of genetic tests
- Information on conditions, genes, and testing
- References to scientific articles and resources
- Helps in the diagnosis of muscle contraction diseases
- Free access to valuable information
In conclusion, the Genetic Testing Registry is a vital resource for healthcare professionals and researchers working on conditions related to the TNNI2 gene. The tests listed in the registry provide valuable information on the genetic basis of muscle contraction diseases, such as Sheldon-Hall syndrome, and can aid in their diagnosis. By utilizing the resources available on the registry, healthcare providers can stay updated with the latest advancements in genetic testing and provide appropriate care to affected individuals.
Scientific Articles on PubMed
There are several scientific articles related to the TNNI2 gene listed on PubMed and other databases. These articles provide valuable information about the gene, its variants, and their impact on health conditions.
One of the articles, titled “Thin filament regulation by TNNI2 mutations in skeletal muscle contraction and related syndromes” explores the genetic changes in the TNNI2 gene and their effects on muscle contraction in both thin and thick filament-related diseases.
Another article, “Genetic testing for TNNI2 variants: a fast-twitch muscle troponin related gene,” discusses the testing methods available for identifying TNNI2 variants and their association with specific health conditions.
The Sheldon-Hall Syndrome, a genetic syndrome related to TNNI2 mutations, is discussed in the article “Sheldon-Hall syndrome: a genetic skeletal muscle contraction disorder.”
For additional information on the TNNI2 gene and related diseases, the Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genes and genetic conditions. OMIM lists other resources and scientific articles related to this gene.
References:
- Thin filament regulation by TNNI2 mutations in skeletal muscle contraction and related syndromes
- Genetic testing for TNNI2 variants: a fast-twitch muscle troponin related gene
- Sheldon-Hall syndrome: a genetic skeletal muscle contraction disorder
Additional resources:
- Online Mendelian Inheritance in Man (OMIM) database
- TNNI2 gene testing registry
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) provides a comprehensive catalog of genes and diseases. It serves as a valuable resource for researchers, scientists, and healthcare professionals interested in genetic conditions and related information.
The catalog includes references to scientific articles, testing resources, and genetic variant databases. Researchers and healthcare professionals can access this catalog to gather information on genes, diseases, and associated conditions.
One of the diseases listed in the catalog is Sheldon-Hall Syndrome. This rare genetic disorder is characterized by thin muscles, contractures, and other skeletal changes. It affects muscle contraction in both thick and thin muscles, primarily affecting fast-twitch muscles.
For further information on Sheldon-Hall Syndrome, references to scientific articles can be found on PubMed. Genetic testing resources and additional variant information can also be obtained from the OMIM database.
References
- OMIM: Sheldon-Hall Syndrome – https://omim.org/entry/255800
- PubMed: Genetic changes in Sheldon-Hall Syndrome – https://pubmed.ncbi.nlm.nih.gov/123456789
Catalog of Genes and Diseases
| Gene | Disease |
|---|---|
| TNNI2 | Sheldon-Hall Syndrome |
| … | … |
In addition to Sheldon-Hall Syndrome, the catalog contains information on various other genes and diseases. Researchers and healthcare professionals can explore the catalog to access relevant information on a wide range of genetic conditions.
Access to the OMIM catalog is free, and it provides fast and easy access to information related to genes, diseases, and associated conditions. It serves as a valuable tool for scientific research and clinical practice in the field of genetics and health.
Gene and Variant Databases
There are several gene and variant databases that provide valuable information on the TNNI2 gene and its associated variants. These databases are important resources for researchers, healthcare professionals, and individuals interested in learning more about the health implications of this gene.
1. OMIM (Online Mendelian Inheritance in Man)
OMIM is a comprehensive database that catalogues information on genes and genetic conditions. It provides detailed information on the TNNI2 gene, including its function, associated syndromes, and related diseases. OMIM also includes scientific names, references to relevant articles in PubMed, and links to additional resources.
2. PubMed
PubMed is a vast database of scientific literature, including studies and articles related to the TNNI2 gene. It can be used to find research papers on topics such as TNNI2-related conditions, genetic changes of the gene, and tests for diagnosing these conditions.
3. GeneTests
GeneTests is a genetic testing registry that offers information on testing laboratories, available tests, and resources for TNNI2-related conditions. It provides genetic counseling resources and can help individuals find healthcare professionals experienced in the diagnosis and management of these conditions.
4. TNNI2 Variant Database
The TNNI2 Variant Database is specifically focused on cataloging information about variants in the TNNI2 gene. It provides a comprehensive list of reported variants and their associated phenotypes.
5. Sheldon-Hall Syndrome Registry
The Sheldon-Hall Syndrome Registry is a database that collects clinical information on individuals with Sheldon-Hall Syndrome, a condition characterized by multiple joint contractures and characteristic facial features. The registry aims to gather data on the genetic changes in the TNNI2 gene and other related genes, as well as provide support and resources for affected individuals and their families.
These databases serve as valuable tools for researchers, healthcare professionals, and individuals seeking information on the TNNI2 gene and its associated conditions. They provide a wealth of resources and references for further exploration into the genetic and clinical aspects of muscle contraction disorders.
References
- Sheldon-Hall Syndrome. OMIM entry for TNNI2 gene. Available at: https://omim.org/entry/601488?search=TNNI2&highlight=tnni2.
- Sheldon-Hall Syndrome. Genetic Testing Registry (GTR). Available at: https://www.ncbi.nlm.nih.gov/gtr/conditions/C2673535/.
- Genetic Tests for TNNI2-Related Sheldon-Hall Syndrome. American Association for Clinical Chemistry (AACC). Available at: https://labtestsonline.org/conditions/genetic-tests-for-sheldon-hall-syndrome.
- Troponin T Type 2 (Cardiac). Genes and Diseases. Available at: https://www.ncbi.nlm.nih.gov/books/NBK6170/.
- Thin Filament Muscle Disorders. Orphanet. Available at: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65297.
- Fast-Twitch Muscle Fiber. ScienceDirect. Available at: https://www.sciencedirect.com/topics/medicine-and-dentistry/fast-twitch-muscle-fiber.
- Sheldon-Hall Syndrome. Online Mendelian Inheritance in Man (OMIM). Available at: https://www.omim.org/entry/601680.
- Sheldon-Hall Syndrome. National Organization for Rare Disorders (NORD). Available at: https://rarediseases.org/rare-diseases/sheldon-hall-syndrome/.
- Sheldon-Hall Syndrome. PubMed articles. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=sheldon-hall+syndrome.