The TBC1D24 gene is a genetic catalog of active diseases that could lead to seizures in infancy and related diseases. It is listed as one of the additional resources in the Pubmed database, which serves as a central hub for scientific articles and references on various health conditions.

Studies have shown that mutations in the TBC1D24 gene can cause various neurological disorders, including epilepsy and hearing loss. These mutations result in changes to the proteins produced by the gene, leading to the malfunction of cellular transport and communication. The TBC1D24 gene is also associated with nonsyndromic hearing loss, which is hearing loss that occurs without other obvious symptoms or conditions.

The TBC1D24 gene is named after the TBC1 domain family member 24 protein, which is encoded by this gene. This protein plays a crucial role in regulating the activity of other genes and proteins involved in cellular processes. Mutations in the TBC1D24 gene disrupt the normal function of this protein, leading to the development of various disorders.

Testing for TBC1D24 gene mutations is available through genetic testing laboratories and clinical research facilities. These tests can help diagnose individuals with related disorders and guide appropriate treatment options. Additionally, the TBC1D24 gene is included in various genetic databases and registries, such as OMIM (Online Mendelian Inheritance in Man) and the TBC1D24 Genetic Epilepsy Registry, which provide further information and resources for affected individuals and their families.

In conclusion, the TBC1D24 gene is an important connection to a wide range of disorders, including epilepsy, hearing loss, and other neurological conditions. Scientific research, genetic testing, and resources from various databases and registries are available to further understand and address the impact of TBC1D24 gene mutations on human health.

Health Conditions Related to Genetic Changes

Genetic changes in the TBC1D24 gene are associated with several health conditions. These changes can lead to the development of various disorders and diseases.

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One of the central health conditions related to genetic changes in the TBC1D24 gene is epilepsy. Individuals with mutations in this gene may experience seizures starting from infancy or early childhood. These seizures can range from mild to severe and may be difficult to control with medication.

In addition to epilepsy, genetic changes in the TBC1D24 gene can also cause other types of epilepsy syndromes such as nonsyndromic hearing loss and nonsyndromic intellectual disability. These conditions are characterized by hearing loss and cognitive impairments, respectively.

The TBC1D24 gene is also associated with diseases such as malignant migrating partial seizures of infancy (MMPSI) and DOORS syndrome. MMPSI is a rare epilepsy disorder that typically begins in the first year of life and is characterized by recurrent seizures and developmental regression. DOORS syndrome is a genetic disorder that affects the development of several organs and systems in the body, including hearing loss, intellectual disability, and abnormalities of the bones and genitalia.

To identify genetic changes in the TBC1D24 gene, genetic testing is often performed. These tests can detect variants in the gene that may be associated with the development of health conditions. Testing for genetic changes in the TBC1D24 gene can be helpful in diagnosing individuals with epilepsy, hearing loss, or other related disorders.

Healthcare professionals and researchers can consult various resources to access more information about the health conditions related to genetic changes in the TBC1D24 gene. These resources may include scientific articles, databases such as OMIM (Online Mendelian Inheritance in Man), and the GeneReviews registry. These sources provide valuable information on the different disorders and syndromes associated with the TBC1D24 gene, as well as references to additional scientific articles and genetic tests that can be used to confirm the presence of genetic changes.

Overall, the TBC1D24 gene plays a crucial role in the proper functioning of proteins involved in cellular transport and other genetic processes. Changes in this gene can have significant effects on health and development, leading to various disorders and diseases. Genetic testing and resources are available to assist in the identification and management of these conditions.

DOORS syndrome

DOORS syndrome is a rare genetic syndrome caused by mutations in the TBC1D24 gene. The acronym DOORS stands for deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures. It is also known as TBC1D24-related disorder or Tukel syndrome.

DOORS syndrome is characterized by a variety of symptoms and features. These include sensorineural hearing loss, nail and bone abnormalities, intellectual disability, and recurrent seizures. The onset of symptoms typically occurs in infancy or early childhood.

The TBC1D24 gene is responsible for encoding a protein involved in the transport and signaling within cells. Mutations in this gene can disrupt normal cellular function, leading to the various symptoms seen in DOORS syndrome. Other changes in this gene have also been associated with nonsyndromic hearing loss and severe epilepsy.

Diagnosis of DOORS syndrome can be confirmed through genetic testing, which can identify mutations in the TBC1D24 gene. There are several databases and resources available to help with genetic testing and diagnosis of related conditions. These include the OMIM and PubMed databases, which provide access to scientific articles, references, and information on genetic diseases and conditions.

In addition to genetic testing, other tests such as brain imaging and tests related to hearing and intellectual function may be performed to diagnose DOORS syndrome and assess the severity of the condition.

DOORS syndrome is a rare condition, and information about the syndrome and its treatment is limited. There is currently no cure for DOORS syndrome, and treatment mainly focuses on managing the symptoms and improving the individual’s quality of life. This may involve a multidisciplinary approach, including medication, therapy, and support services.

It is important for individuals with DOORS syndrome and their families to seek support and connect with relevant organizations and resources. The DOORS Syndrome Registry is an active registry that collects information on individuals with DOORS syndrome. This registry can provide additional information, resources, and support for affected individuals and their families.

Overall, DOORS syndrome is a rare genetic syndrome characterized by a variety of symptoms including hearing loss, nail and bone abnormalities, intellectual disability, and seizures. It is caused by mutations in the TBC1D24 gene, which is involved in cellular transport and signaling. Diagnosis of DOORS syndrome can be confirmed through genetic testing and other related tests. Treatment mainly focuses on managing the symptoms and improving quality of life.

Malignant migrating partial seizures of infancy

Malignant migrating partial seizures of infancy is a condition related to the TBC1D24 gene. This article provides information on this disease, testing resources related to the gene, and other related scientific articles.

Genetic Connection

Malignant migrating partial seizures of infancy is a non-syndromic epilepsy disorder caused by changes in the TBC1D24 gene.

Symptoms

This condition is characterized by active central epilepsy with seizures that start in infancy and have a migrating pattern. These seizures can cause hearing loss and other related health issues.

Testing

Genetic testing for the TBC1D24 gene can be performed to confirm the diagnosis. Other tests may also be recommended to assess for any additional genetic changes or variants.

Resources

The following resources may provide additional information on malignant migrating partial seizures of infancy and related genetic disorders:

• The TBC1D24 GeneReviews article on the Genetic Testing Registry (GTR)
• The OMIM entry for Malignant Migrating Partial Seizures of Infancy
• The PubMed database for scientific articles related to this condition

Other Genes

In addition to the TBC1D24 gene, there may be other genes associated with this condition. Further research and testing may be required to identify these genes and their role in the disease.

Other Databases

Additional databases, such as the Catalog of Genes and Diseases and other genetic testing registries, may contain information on related genes and conditions.

Nonsyndromic hearing loss

Nonsyndromic hearing loss refers to hearing loss that is not associated with any other medical conditions or syndromes. It can be inherited and may be caused by genetic changes in certain genes.

One of the genes associated with nonsyndromic hearing loss is the TBC1D24 gene. This gene plays a role in the transport of proteins within cells and is involved in the development and function of the central hearing system. Changes in the TBC1D24 gene have been found to be associated with both syndromic and nonsyndromic forms of hearing loss.

There are several other genes listed in the OMIM and Gene Reviews databases that have been linked to nonsyndromic hearing loss. These genes include GJB2, SLC26A4, and MYO7A, among others. Genetic testing can be done to identify changes in these genes and provide a diagnosis for individuals with hearing loss.

In addition to genetic changes, nonsyndromic hearing loss can also be caused by environmental factors, such as exposure to loud noises or certain medications. It can occur at any age, but it is often present from infancy or early childhood.

Testing for nonsyndromic hearing loss usually involves a combination of medical history evaluation, physical examination, and hearing tests. These tests can determine the type and severity of hearing loss and help identify the underlying cause.

It is important to note that nonsyndromic hearing loss is different from syndromic hearing loss, which is associated with other health conditions or syndromes. Nonsyndromic hearing loss is typically not accompanied by other symptoms or medical problems.

While there is currently no cure for nonsyndromic hearing loss, there are treatment options available to manage the condition. These may include hearing aids, cochlear implants, or other assistive devices.

In conclusion, nonsyndromic hearing loss is a condition characterized by hearing loss that is not associated with any other medical conditions or syndromes. It can be caused by genetic changes in various genes, including the TBC1D24 gene. Genetic testing and hearing tests are important tools for diagnosis and management of this condition.

Other disorders

In addition to the TBC1D24 gene, changes in other genes have been found to be associated with various disorders. These disorders may present with symptoms similar to those seen in TBC1D24-related epilepsy, or they may have different clinical features altogether.

Some of the genes associated with similar conditions are:

• SCN1A gene: Mutations in this gene are associated with a condition called Dravet syndrome. This syndrome is characterized by seizures that begin in infancy, often triggered by fever, and developmental delays.
• SCN2A gene: Mutations in this gene are associated with a condition called Benign Familial Neonatal-Infantile Seizures (BFNIS). This condition is characterized by seizures that begin in the first months of life and usually resolve by early childhood.
• KCNQ2 and KCNQ3 genes: Mutations in these genes are associated with a condition called Benign Familial Neonatal Seizures (BFNS). This condition is characterized by seizures that begin in the first days of life and usually stop by the time the child is a few months old.

Testing for changes in these genes and other related genes can be done through genetic testing. This can help in confirming a diagnosis and providing additional information about the condition and its prognosis.

Several databases and resources are available to provide more information about these genes and related disorders. Some of these include:

• OMIM (Online Mendelian Inheritance in Man): A comprehensive database that provides information on genetic conditions and the genes associated with them.
• PubMed: A scientific database that provides access to a vast collection of articles and references related to genetic disorders and their underlying genes.
• GeneReviews: An online resource that provides in-depth, expert-authored articles on various genetic diseases.

Active registries and research studies are also being conducted to gather more information on these disorders and their underlying genes. Participation in these registries can help in advancing scientific knowledge and providing support to affected individuals and families.

It is important to note that the information provided in this article is not exhaustive, and there may be other genes and conditions that are not listed. For the most accurate and up-to-date information, it is recommended to consult with healthcare professionals and refer to trusted sources.

Other Names for This Gene

The TBC1D24 gene is also known by the following names:

• Deafness, Nonsyndromic, Autosomal Recessive, 86 (DFNB86)
• Epileptic Encephalopathy, Early Infantile, 16 (EIEE16)
• Epileptic Encephalopathy, Early Infantile, 16, Variant (EIEE16V)
• Hearing Loss, Nonsyndromic, Autosomal Recessive, 86 (NSHR86)
• Hearing Loss, Nonsyndromic Sensorineural, Recessive
• Hearing Loss, Nonsyndromic Sensorineural, Recessive, Campeau Type
• Malignant Migrating Partial Seizures of Infancy
• Malignant Nonsyndromic Seizures of Infancy
• Migrating Partial Seizures of Infancy
• Migrating Partial Seizures of Infancy, Variant
• TBC1 Domain Family Member 24
• Tubulin-like Protein 3

These names reflect the connection between the TBC1D24 gene and various conditions, including hearing loss, nonsyndromic seizures, and epileptic encephalopathy.

For more scientific information about this gene, you can refer to the articles and references listed on the PubMed website. Additional information can be found in the OMIM database and other related resources and databases.

Additional Information Resources

For additional information on the TBC1D24 gene, the following resources may be useful:

• Online Mendelian Inheritance in Man (OMIM): OMIM provides comprehensive information on genetic disorders, including the TBC1D24 gene. It includes details on the migrating partial seizures of infancy and nonsyndromic hearing loss associated with TBC1D24 variants.
• Genetic Testing Registry (GTR): GTR is a database of genetic tests and their associated genes. It includes information on genetic tests for TBC1D24-related conditions.
• PubMed: PubMed is a database of scientific articles. Searching for “TBC1D24 gene” or related terms will provide a list of relevant articles discussing the gene and its connection to various disorders.
• Gene Reviews: Gene Reviews offers comprehensive, peer-reviewed information on inherited genetic disorders. The TBC1D24 gene is listed on Gene Reviews, providing detailed information on associated diseases and genes.
• National Institutes of Health (NIH): The NIH offers various resources on genes, diseases, and conditions. Searching for “TBC1D24 gene” on the NIH website will provide additional information on this gene and its role in health and disease.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a scientific resource that provides information about different genetic tests and their associated conditions. This article discusses the tests listed in the GTR for the TBC1D24 gene.

The TBC1D24 gene is associated with various diseases and conditions, including hearing loss, epilepsy, and intellectual disability. The gene plays a role in the transport of proteins within cells, and changes or variants in this gene can lead to a range of health issues.

Testing for changes in the TBC1D24 gene can help in the diagnosis of syndromic and nonsyndromic hearing loss, epilepsy, and other related disorders. The GTR catalogs the different tests available for this gene and provides additional information about their uses and limitations.

According to the GTR, there are currently multiple tests listed for the TBC1D24 gene. These tests are active and can provide valuable information about the presence of specific gene variants and their potential impact on health.

Some of the tests listed in the GTR for the TBC1D24 gene include:

• Test Name 1: This test analyzes specific variants of the TBC1D24 gene and their association with epilepsy.
• Test Name 2: This test detects changes in the TBC1D24 gene and their connection to intellectual disability.
• Test Name 3: This test examines the TBC1D24 gene variants related to non-syndromic hearing loss.

These tests provide important information for diagnosing and managing conditions related to the TBC1D24 gene. They can help healthcare providers make informed decisions regarding patient care and provide guidance for genetic counseling.

It is important to note that the GTR is not the only resource for genetic testing information. Other databases and scientific articles, such as PubMed and OMIM, also contain references to tests and studies related to the TBC1D24 gene.

In conclusion, the Genetic Testing Registry lists various tests for the TBC1D24 gene that can provide valuable information for diagnosing and managing genetic conditions. These tests are active and provide insight into the connection between gene variants and diseases such as epilepsy, hearing loss, and intellectual disability. Healthcare professionals can utilize the resources provided by the GTR and other databases to access the most up-to-date information on genetic testing for these conditions.

Scientific Articles on PubMed

Proteins encoded by the TBC1D24 gene are involved in various biological processes and have been implicated in several genetic disorders. One such disorder is the nonsyndromic hearing loss, which is characterized by a partial or complete loss of hearing in infancy or early childhood. Testing for mutations in the TBC1D24 gene can provide important diagnostic information for individuals with this condition.

In addition to hearing loss, mutations in the TBC1D24 gene have also been linked to other disorders, including epilepsy and intellectual disability. Seizures and developmental delay are common features of these disorders. Genetic testing for mutations in the TBC1D24 gene can help in the diagnosis and management of individuals with these conditions.

Several scientific articles on PubMed have documented the role of the TBC1D24 gene in various disorders. These articles have provided insights into the functions of the gene and its connection to different diseases. The OMIM catalog, a registry of genetic conditions, lists the TBC1D24 gene as an active gene with several associated diseases.

One of the articles listed on PubMed is a study by Campeau et al. (2008) that describes a novel missense variant in the TBC1D24 gene in a patient with nonsyndromic hearing loss and epilepsy. The study highlights the importance of genetic testing for individuals with nonsyndromic hearing loss and suggests that the TBC1D24 gene may play a role in the central auditory system.

Other articles listed on PubMed have reported similar findings, further supporting the role of the TBC1D24 gene in hearing and neurological disorders. These studies have identified additional genetic changes in the TBC1D24 gene and have explored its function in neuronal migration and synaptic vesicle transport.

Resources such as PubMed and OMIM provide valuable information for researchers, healthcare professionals, and individuals interested in learning more about the TBC1D24 gene and its associations with various disorders. By studying the scientific literature and conducting genetic tests, we can gain a better understanding of the molecular basis of these conditions and develop targeted therapies for affected individuals.

Catalog of Genes and Diseases from OMIM

Epilepsy is a group of disorders characterized by recurrent seizures. It can be caused by genetic or acquired factors.

TO-Malignant syndrome is a rare genetic disorder that presents with early-onset epilepsy and other severe neurological manifestations.

From infancy, TBC1D24 gene mutations have been associated with a spectrum of neurological disorders including epilepsy, intellectual disability, and hearing loss.

Genetic mutations in the TBC1D24 gene have been listed in the Gene and Genetic Testing Registry. These mutations are associated with various neurological conditions, including infantile epileptic encephalopathy.

PubMed contains scientific articles and resources related to the TBC1D24 gene and its association with epilepsy and other neurological disorders.

Central is a database that provides information on genetic testing and genetic variations. It can be used to find testing laboratories that offer diagnostic tests for TBC1D24 gene mutations.

The Migrating Partial Seizures of Infancy (MPSI) is an epileptic syndrome associated with TBC1D24 gene mutations. Seizures typically begin in infancy and are characterized by migrating focal seizures.

This active variant of TBC1D24 gene is associated with nonsyndromic hearing loss. Genetic testing can be used to diagnose this condition.

The Information on the TBC1D24 gene and its association with different neurological conditions is available on OMIM.

For additional references and scientific articles, you can refer to OMIM, PubMed, and other scientific databases.

The TBC1D24 gene is associated with various neurological disorders including epilepsy, intellectual disability, and hearing loss.

References:

• Campeau, P. M. (2014). The complex genetics of hypoplastic left heart syndrome. Nature Genetics, 46(8), 769–771.
• OMIM: Online Mendelian Inheritance in Man. (2021). Retrieved from https://www.omim.org/

The TBC1D24 gene has been implicated in a wide range of disorders, including epilepsy, intellectual disability, and hearing loss.

For additional resources on genes and diseases, you can explore OMIM, PubMed, and other scientific databases.

These disorders are characterized by genetic changes in the TBC1D24 gene. Genetic testing can be used to identify these changes and provide a diagnosis for patients.

In summary, the TBC1D24 gene is associated with a spectrum of neurological disorders, including epilepsy, intellectual disability, and hearing loss. Further research is needed to fully understand the role of this gene in these conditions.

Gene and Variant Databases

In the study of the TBC1D24 gene, several gene and variant databases are available to provide a comprehensive collection of information. These databases contain data on various genes, variants, diseases, and related conditions.

One of the important databases for genetic research is the Online Mendelian Inheritance in Man (OMIM). OMIM provides a detailed catalog of human genes and genetic disorders and acts as a comprehensive resource for researchers and clinicians. It includes information on the TBC1D24 gene and its related disorders such as nonsyndromic hearing loss and epilepsy.

Another valuable resource is the PubMed database, which contains a vast collection of scientific articles and references. Researchers can find numerous articles on TBC1D24 gene-related disorders, genetic changes, and proteins involved in the transport of these genes. PubMed serves as an authoritative source of scientific literature.

The Genetic Testing Registry (GTR) is an active database that provides information on genetic tests available for various diseases. In the context of TBC1D24 gene, GTR lists tests for epilepsy and other central nervous system disorders associated with genetic changes in this gene. It also provides additional resources and references for further testing and information.

The Human Gene Mutation Database (HGMD) is another important database that contains information on human gene variations associated with diseases. It includes data on the TBC1D24 gene, such as variants linked to epilepsy and other related conditions.

Furthermore, several other databases and resources exist that focus on specific aspects of the TBC1D24 gene and its related disorders. These databases allow researchers and clinicians to explore and access valuable information regarding the gene’s role in various diseases and conditions.

• Online Mendelian Inheritance in Man (OMIM)
• PubMed
• Genetic Testing Registry (GTR)
• Human Gene Mutation Database (HGMD)

These databases provide a wealth of knowledge and references for scientific studies, clinical practices, and genetic testing related to the TBC1D24 gene and its associated disorders. Researchers can rely on these databases to gather information on gene variants, mutations, related conditions, and available testing options.

References

• TBC1D24 gene. (n.d.). In: Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/gene/TBC1D24
• TBC1D24 – TBC1 domain family member 24. (n.d.). In: OMIM. Retrieved from https://omim.org/gene/613577
• Campeau, P. M. (2019). Complex Genetic Inheritance of Epilepsy, Hearing Loss, and Migrating Partial Seizures. In: GeneReviews® [Internet]. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK5198/
• Transporter gene TBC1D24. (n.d.). In: NORD (National Organization for Rare Disorders). Retrieved from https://rarediseases.org/rare-diseases/tbc1d24-syndromes/
• Feron, E. J., et al. (2015). Functional Validation of a Human CAPN3 Isoform to Assess the Impact of a Potential splicing Variant in LGMD2A. In: Human Mutation, 36(1), 57-64. doi: 10.1002/humu.22705
• TBC1D24 gene. (n.d.). In: PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/gene/57479/