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The SYNE1 gene is associated with several genetic conditions, including autosomal recessive cerebellar ataxia type 1 and Emery-Dreifuss muscular dystrophy. This gene is listed in various genetic databases and resources, providing valuable information and testing options for individuals and families affected by these conditions.

SYNE1, also known as spectrin repeat-containing nuclear envelope protein 1, is involved in maintaining the structure and function of the nucleus and nuclear envelope. Mutations in this gene can lead to a variety of health problems, including muscular dystrophy and cerebellar ataxia.

The SYNE1 gene variant has been found to be recessive, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the associated condition. Genetic testing for SYNE1 mutations can be an important tool in diagnosing these conditions, providing valuable information for medical management and family planning.

Scientific articles and research related to the SYNE1 gene can be found in various databases, such as PubMed and OMIM. These resources offer additional information on the genetic changes associated with SYNE1 and provide references to other relevant studies and resources. The GeneTests registry also provides a comprehensive list of tests available for SYNE1 and additional information on related conditions.

In conclusion, the SYNE1 gene plays a crucial role in the development of several genetic conditions, including muscular dystrophy and cerebellar ataxia. Genetic testing and resources provide essential information for individuals and families affected by these conditions, helping to improve diagnosis, management, and understanding of these diseases.

Genetic changes in the SYNE1 gene can result in various health conditions. These changes can be of different types, including recessive variants.

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In the catalog of genetic tests and conditions, the SYNE1 gene is associated with several health conditions. PubMed, a registry of scientific articles, provides additional information on diseases related to the SYNE1 gene.

One of the conditions associated with SYNE1 genetic changes is cerebellar ataxia. This autosomal recessive condition affects the brain and can result in impaired coordination and movement.

Genetic databases such as OMIM list the SYNE1 gene and provide references for testing and information on related conditions.

In addition to cerebellar ataxia, genetic changes in the SYNE1 gene can also be related to other diseases, including Emery-Dreifuss muscular dystrophy.

Testing for genetic changes in the SYNE1 gene can provide valuable information for individuals and healthcare professionals in managing and treating these health conditions.

References:

  • Genetic Testing Registry – SYNE1 Gene
  • PubMed – Articles related to SYNE1
  • OMIM – SYNE1 gene variant diseases

These resources can provide additional information on genetic changes related to the SYNE1 gene and the associated health conditions.

Autosomal recessive cerebellar ataxia type 1

Autosomal recessive cerebellar ataxia type 1 is a genetic disease that is caused by mutations in the SYNE1 gene. The SYNE1 gene provides instructions for making a protein called spectrin repeat-containing nuclear envelope protein 1. This protein is involved in maintaining the structure and function of the nucleus and the connection between the nucleus and the outer cellular structures.

Individuals with autosomal recessive cerebellar ataxia type 1 typically develop symptoms such as progressive difficulty with balance and coordination (ataxia), difficulty walking, slurred speech, and abnormal eye movements. These symptoms are caused by the degeneration of a specific type of brain cell called Purkinje cells, which are crucial for motor coordination.

Diagnosis of autosomal recessive cerebellar ataxia type 1 can be done through genetic testing, which can identify changes in the SYNE1 gene. Additional testing may be done to rule out other genetic diseases that present with similar symptoms.

Treatment for autosomal recessive cerebellar ataxia type 1 is currently supportive and focuses on managing the symptoms. Physical therapy, speech therapy, and occupational therapy can help improve mobility and communication skills. Assistive devices may also be used to aid in walking and other daily activities.

For more detailed information on autosomal recessive cerebellar ataxia type 1, you can refer to relevant articles on OMIM, the Online Mendelian Inheritance in Man database. OMIM provides a comprehensive catalog of genetic diseases and their associated genes, including information on inheritance patterns, clinical features, and genetic variants.

See also  Duane-radial ray syndrome

References:

Emery-Dreifuss Muscular Dystrophy

Emery-Dreifuss muscular dystrophy (EDMD) is an autosomal recessive genetic condition characterized by changes in the SYNE1 gene. It is a rare form of muscular dystrophy that primarily affects the muscles involved in movement and muscle contractions.

EDMD is named after Alan Emery and Fritz Dreifuss, the two physicians who first described the condition in 1966. It is also known as Emery-Dreifuss syndrome.

Genetic information about EDMD can be found on various health databases and resources like OMIM (Online Mendelian Inheritance in Man) and gene testing companies’ catalogs. SYNE1 is one of the genes associated with EDMD. Additional genes related to this condition can be found in scientific articles and references listed on databases like PubMed.

Common symptoms of EDMD include muscle weakness and wasting, joint contractures (limited range of motion), and heart problems. Some individuals with EDMD may also experience ataxia (loss of muscle coordination) and have a variant form of the condition known as cerebellar variant of EDMD.

Diagnosis of EDMD usually involves genetic testing to identify mutations in the SYNE1 gene or other genes associated with the condition. Other tests may include muscle biopsy and electrocardiograms (ECGs) to assess heart function.

Treatment options for EDMD are currently limited and focus mainly on managing symptoms and preventing complications. Physical and occupational therapy may help with maintaining muscle function and joint mobility. Regular cardio

Other Names for This Gene

  • SYNE1 gene
  • Spectrin repeat containing, nuclear envelope 1
  • KIAA0796
  • Autosomal recessive cerebellar ataxia 1
  • Emery-Dreifuss muscular dystrophy 4, autosomal recessive
  • Purkinje cell protein 4
  • Syne-1
  • Syne-1A
  • Syne-1C

The scientific name for this gene is SYNE1. It is also known by several other names, including Spectrin repeat containing, nuclear envelope 1 and KIAA0796. This gene is associated with several health conditions and diseases, including autosomal recessive cerebellar ataxia 1 and Emery-Dreifuss muscular dystrophy 4, autosomal recessive.

SYNE1 is a gene that provides instructions for making a protein called spectrin repeat-containing nuclear envelope protein 1. This protein is found in the nuclear envelope, which surrounds the nucleus of a cell. It plays a role in maintaining the structure and function of the nuclear envelope, as well as in the movement and positioning of the nucleus within the cell.

Changes in the SYNE1 gene can cause various genetic conditions, including muscular dystrophy and cerebellar ataxia. There are different types of genetic tests available to detect changes in this gene, and testing can be helpful in diagnosing these conditions and providing information about their prognosis and treatment options.

Information on the SYNE1 gene can be found in scientific articles and databases, such as PubMed and OMIM. These resources provide additional references and catalogs of genetic changes associated with this gene and related conditions.

Additional Information Resources

This article provides additional information and resources on the SYNE1 gene and related genetic conditions.

Articles and References

  • PubMed – a scientific database with articles on genetics and related topics
  • OMIM – a catalog of human genes and genetic diseases

Genetic Testing and Registries

  • PubMed – provides information on genetic testing for the SYNE1 gene and related genes
  • OMIM – a catalog of human genes and genetic diseases

Other Resources

  • PubMed – a scientific database with articles on genetics and related topics
  • OMIM – a catalog of human genes and genetic diseases
  • PubMed – provides information on genetic testing for the SYNE1 gene and related genes
  • OMIM – a catalog of human genes and genetic diseases

Genes and Diseases

  • OMIM – a catalog of human genes and genetic diseases
  • PubMed – provides information on genetic testing for the SYNE1 gene and related genes
  • OMIM – a catalog of human genes and genetic diseases

Health Conditions

  • OMIM – a catalog of human genes and genetic diseases
  • PubMed – provides information on genetic testing for the SYNE1 gene and related genes
  • OMIM – a catalog of human genes and genetic diseases
  • PubMed – provides information on genetic testing for the SYNE1 gene and related genes

Changes and Variant Names

  • OMIM – a catalog of human genes and genetic diseases
  • PubMed – provides information on genetic testing for the SYNE1 gene and related genes
  • OMIM – a catalog of human genes and genetic diseases
  • PubMed – provides information on genetic testing for the SYNE1 gene and related genes

Additional Tests

  • OMIM – a catalog of human genes and genetic diseases
  • PubMed – provides information on genetic testing for the SYNE1 gene and related genes
  • OMIM – a catalog of human genes and genetic diseases
  • PubMed – provides information on genetic testing for the SYNE1 gene and related genes
See also  NPC2 gene

Cerebellar Ataxia

Syne1 is a gene associated with autosomal recessive cerebellar ataxia. For more information on this condition and related genes, refer to the following resources:

  • OMIM – a catalog of human genes and genetic diseases
  • PubMed – provides information on genetic testing for the SYNE1 gene and related genes
  • OMIM – a catalog of human genes and genetic diseases

Muscular Dystrophy and Emery-Dreifuss Muscular Dystrophy

Syne1 is also associated with muscular dystrophy, specifically Emery-Dreifuss muscular dystrophy. For more information on this condition and related genes, refer to the following resources:

  • OMIM – a catalog of human genes and genetic diseases
  • PubMed – provides information on genetic testing for the SYNE1 gene and related genes
  • OMIM – a catalog of human genes and genetic diseases

Purkinje Cell

Purkinje cells are a type of neuron found in the cerebellum. The SYNE1 gene plays a role in the development and function of Purkinje cells. For more information on this topic, refer to the following resources:

  • OMIM – a catalog of human genes and genetic diseases
  • PubMed – provides information on genetic testing for the SYNE1 gene and related genes
  • OMIM – a catalog of human genes and genetic diseases

Tests Listed in the Genetic Testing Registry

The SYNE1 gene is associated with various genetic conditions, including Emery-Dreifuss muscular dystrophy, autosomal recessive cerebellar ataxia, and Purkinje cell degeneration. Genetic testing for variants in the SYNE1 gene can provide valuable information on the presence of these conditions.

The Genetic Testing Registry (GTR) is a resource that provides information on genetic tests for a wide range of diseases and genes. This registry lists the different tests available for the SYNE1 gene, along with their associated conditions and genetic variations.

The GTR lists a variety of tests for the SYNE1 gene, including both diagnostic and predictive tests. Diagnostic tests are used to confirm or exclude a diagnosis of a specific genetic condition, while predictive tests assess the risk of developing a particular condition in individuals without symptoms.

Some of the tests listed in the GTR include:

  • SYNE1 Gene Testing for Emery-Dreifuss Muscular Dystrophy
  • SYNE1 Variant Analysis for Autosomal Recessive Cerebellar Ataxia
  • SYNE1 Gene Sequencing for Purkinje Cell Degeneration

Each test listed in the GTR has a specific test code and name, which can be used to refer to the test in scientific articles and other resources. The GTR also provides additional information on the specific changes in the SYNE1 gene that are associated with each condition.

In addition to the GTR, there are other databases and resources available that provide further information on the SYNE1 gene and related conditions. The Online Mendelian Inheritance in Man (OMIM), for example, is a comprehensive catalog of genes, genetic conditions, and their associated phenotypes. OMIM provides detailed information on the SYNE1 gene, including references to scientific articles and other resources.

Overall, the tests listed in the GTR provide valuable information on the SYNE1 gene and its association with various genetic conditions. Genetic testing for variants in the SYNE1 gene can help in the diagnosis and management of Emery-Dreifuss muscular dystrophy, autosomal recessive cerebellar ataxia, and Purkinje cell degeneration.

Scientific Articles on PubMed

PubMed is a widely used resource for accessing scientific articles related to genetic diseases and other health conditions. It provides a comprehensive database of research articles, including those focused on the SYNE1 gene, which is known to be associated with various genetic disorders.

Genetic diseases related to SYNE1 gene include autosomal recessive cerebellar ataxia type 8, muscular dystrophy, and Emery-Dreifuss muscular dystrophy. These conditions are caused by changes or mutations in the SYNE1 gene, which is responsible for encoding proteins that play a role in various cellular processes.

The PubMed database includes a catalog of scientific articles related to the SYNE1 gene, which provides valuable information on the genetic changes associated with these conditions. Additional information on testing and variant names for the SYNE1 gene can also be found on PubMed.

Scientists and researchers can utilize PubMed to access references and scientific articles related to the SYNE1 gene, aiding them in their studies and research on genetic diseases. The information listed on PubMed can help in understanding the underlying mechanisms and potential treatment options for these conditions.

Furthermore, PubMed offers resources for genetic testing and information on genetic registries that are dedicated to studying and managing various genetic diseases. This can be particularly beneficial for individuals and families affected by these conditions, as it allows them to access relevant information and resources.

See also  FREM2 gene

In summary, PubMed is a vital resource for accessing scientific articles and information related to the SYNE1 gene and various genetic diseases. It provides a comprehensive catalog of references and research studies, aiding scientists, researchers, and individuals in gaining a better understanding of these conditions and exploring potential treatment options.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genetic conditions and the genes associated with them. It serves as a valuable resource for scientific research, genetic testing, and medical diagnosis.

OMIM classifies genes and diseases based on available information, including published articles, research studies, and clinical observations. The database contains extensive references and links to other resources, such as PubMed, for further reading.

One gene listed in OMIM is SYNE1, which is associated with various diseases, including cerebellar ataxia and muscular dystrophy. Mutations in the SYNE1 gene can lead to changes in the structure or function of Purkinje cells in the cerebellum, causing ataxia. SYNE1 gene variations have also been identified in other types of muscular dystrophy.

In addition to SYNE1, OMIM provides a catalog of many other genes associated with different genetic conditions. It includes both autosomal dominant and recessive diseases, with detailed information on their inheritance patterns, symptoms, and genetic testing recommendations.

The OMIM catalog is a valuable resource for healthcare professionals, researchers, and individuals interested in understanding genetic diseases. It offers a comprehensive overview of the genes involved in various conditions, helping in the diagnosis and management of genetic disorders.

Important Note: OMIM is a registry of genes and diseases, and it may not always include the most up-to-date information. Therefore, additional tests and consultations with healthcare professionals are essential for accurate diagnosis and treatment decisions.

References:

  1. OMIM – Catalog of Human Genes and Genetic Disorders: https://www.omim.org/
  2. PubMed – Scientific articles on SYNE1 gene: https://pubmed.ncbi.nlm.nih.gov

Gene and Variant Databases

The SYNE1 gene is a genetic variant that is associated with various health conditions, including muscular dystrophy, cerebellar ataxia, and Emery-Dreifuss muscular dystrophy. This gene is inherited in an autosomal recessive manner.

Gene and variant databases provide valuable information on the SYNE1 gene, including changes in the gene and additional variant names. These databases are essential for scientific research and for genetic testing purposes.

One of the well-known databases is PubMed, which is a comprehensive resource for scientific articles and references. PubMed provides information on the SYNE1 gene and related diseases such as muscular dystrophy and cerebellar ataxia.

OMIM is another resource that catalogues genetic information, including genes associated with different health conditions. OMIM lists the SYNE1 gene and provides information on the variant names and related diseases.

The GeneTests website is a registry of genetic testing laboratories and resources. This website provides information on the tests available for the SYNE1 gene and related conditions, as well as links to additional resources.

In summary, gene and variant databases are essential resources for researchers and healthcare professionals. They provide information on genes such as SYNE1, variant names, related diseases, and scientific articles. These databases play a crucial role in understanding genetic conditions and improving patient care.

References

  • Health-Related Information on SYNE1 Gene ChangesTesting:

For scientific articles on SYNE1 gene testing and related genetic conditions, visit the PubMed database. It provides a wealth of information on various diseases, including ataxia, cerebellar dystrophy, Emery-Dreifuss muscular dystrophy, and other recessive diseases. You can find additional information on SYNE1 gene changes and related conditions in the Online Mendelian Inheritance in Man (OMIM) database and the Genetic Testing Registry.

  • Genetic Resources:

OMIM and the Genetic Testing Registry are valuable resources for researching autosomal recessive genes, including SYNE1. They list known genetic variants and provide links to references and additional information.

  • Gene and Variant Databases:

Various databases catalog information on SYNE1 gene variants. These databases include OMIM, the Genetic Testing Registry, and others. They provide detailed information on the gene, associated variants, and their clinical implications.

  • Related Articles:

There are numerous scientific articles that discuss the role of SYNE1 gene mutations in different diseases. These articles explore the genetic basis, clinical manifestations, and potential treatment options for conditions related to SYNE1 gene changes. PubMed is an excellent resource for finding such articles.

Overall, the SYNE1 gene is associated with various recessive genetic conditions, including ataxia, cerebellar dystrophy, Emery-Dreifuss muscular dystrophy, and other related diseases. The PubMed database, OMIM, and the Genetic Testing Registry are all excellent sources for finding more information on SYNE1 gene changes and associated health conditions.

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