The SLC2A1 gene, also known as GLUT1, plays a crucial role in the transport of glucose across the blood-brain barrier. This gene is responsible for encoding the GLUT1 protein, which is primarily expressed in the brain. Mutations in the SLC2A1 gene can lead to GLUT1 deficiency syndrome, a rare genetic disorder characterized by a decreased ability of the brain to properly utilize glucose.

There are various articles, databases, and resources available to study the SLC2A1 gene and its associated conditions. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed are two well-known sources that provide information on genetic diseases, including GLUT1 deficiency syndrome. These databases list references, scientific articles, and other relevant information related to the SLC2A1 gene and its role in various diseases.

Clinical tests and genetic testing for the SLC2A1 gene are available to detect changes or variants in the gene that may contribute to GLUT1 deficiency syndrome or other related conditions. These tests can be useful in diagnosing and managing patients with suspected genetic deficiencies or disorders related to the SLC2A1 gene. The results from these tests can help healthcare professionals in providing appropriate treatment and care for affected individuals.

Health Conditions Related to Genetic Changes

The SLC2A1 gene is associated with several health conditions. Genetic changes in this gene have been listed as the cause of Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) and other related diseases.

Glut1 DS is a rare genetic disorder characterized by a deficiency in a protein called glucose transporter 1. This protein is responsible for transporting glucose into the brain. Without enough glucose, the brain doesn’t receive the energy it needs to function properly. This can lead to a wide range of symptoms, including seizures, developmental delay, movement disorders, and other neurological problems.

Scientific articles and clinical databases, such as PubMed and OMIM, provide additional information about the genetic changes and health conditions related to the SLC2A1 gene. The resources available in these databases can help medical professionals and researchers better understand the genetic variants associated with Glut1 DS and other related conditions.

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Testing for genetic changes in the SLC2A1 gene, such as DNA sequencing and deletion/duplication analysis, can be performed to confirm a diagnosis of Glut1 DS or related conditions. These tests can be ordered by healthcare providers who suspect a genetic cause for a patient’s symptoms.

In addition to the SLC2A1 gene, there are other genes and genetic changes that can cause similar health conditions. Genetic testing may need to be performed on other genes to rule out or identify additional genetic causes of similar symptoms.

The Glut1 DS Registry, established by Hinton et al. (2015), collects clinical and genetic information from individuals with Glut1 DS. This registry helps researchers and healthcare professionals better understand the condition and develop more effective treatments.

Overall, genetic changes in the SLC2A1 gene are associated with Glut1 DS and other health conditions. Testing for genetic variants in this gene, along with additional testing on other genes, can help diagnose these conditions and provide more information for medical management.

GLUT1 deficiency syndrome

GLUT1 deficiency syndrome is a genetic condition caused by mutations in the SLC2A1 gene. This gene provides instructions for making a protein called glucose transporter type 1 (GLUT1), which is responsible for transporting glucose across the blood-brain barrier.

Patients with GLUT1 deficiency syndrome have a deficiency of this protein, leading to a reduced supply of glucose to the brain. This can result in a variety of neurological symptoms, including seizures, developmental delay, movement disorders, and intellectual disability.

The GLUT1 Deficiency Foundation maintains a registry for individuals with GLUT1 deficiency syndrome, providing resources and support for affected individuals and their families. The registry also collects and analyzes data to further scientific research on the condition.

Diagnosis of GLUT1 deficiency syndrome is confirmed through genetic testing, which can identify changes or mutations in the SLC2A1 gene. Other diagnostic tests, such as a lumbar puncture to measure glucose levels in the cerebrospinal fluid, may also be used.

More information on GLUT1 deficiency syndrome can be found in scientific articles and databases such as PubMed and OMIM. These resources list genetic variants, clinical features, and additional information on related diseases and conditions.

Researchers, such as Wang et al. and Hinton et al., have published articles on their findings related to GLUT1 deficiency syndrome. These studies have contributed to our understanding of the genetic and clinical features of the syndrome.

Testing for GLUT1 deficiency syndrome is available through genetic testing laboratories and commercial testing companies. These tests can identify mutations in the SLC2A1 gene and aid in the diagnosis of the condition.

Overall, GLUT1 deficiency syndrome is a genetic condition characterized by a deficiency of the GLUT1 protein, resulting in neurological symptoms. The GLUT1 Deficiency Foundation and scientific resources such as PubMed provide valuable information and support for individuals and families affected by this condition.

Other Names for This Gene

The SLC2A1 gene is also known by other names, which include:

• GLUT1 gene
• GLUT1
• DYT9
• GLUT-1

These alternative names are related to the function and characteristics of the gene. SLC2A1 is a gene that encodes a glucose transporter protein, commonly known as GLUT1. This protein is primarily expressed in the brain and plays a crucial role in transporting glucose across the blood-brain barrier.

The different names associated with the SLC2A1 gene can be found in various scientific resources and databases. For example, the National Center for Biotechnology Information’s PubMed database lists articles and references related to this gene and its variants. Additional information and resources can be found in the Online Mendelian Inheritance in Man (OMIM) database, which is a comprehensive catalog of genetic conditions and diseases.

From a clinical perspective, the SLC2A1 gene is of particular interest in the context of GLUT1 deficiency syndrome, a genetic disorder characterized by impaired glucose transport in the central nervous system. Testing for changes or variants in the SLC2A1 gene can provide valuable diagnostic information for this condition.

The SLC2A1 gene is also included in genetic testing panels and registries for other related genetic diseases and conditions. These testing panels and registries are valuable resources for healthcare professionals and researchers working to understand and diagnose genetic disorders.

In summary, the SLC2A1 gene goes by several names, and understanding these alternative names is essential for accessing relevant scientific information and resources available from various databases and journals.

Additional Information Resources

• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides detailed information on genetic disorders and related genes. It includes information on various diseases associated with SLC2A1 gene, such as glucose transporter type 1 deficiency syndrome. OMIM provides references, clinical tests, and other valuable resources for further research.
• PubMed: PubMed is a widely used database for scientific articles in the field of medicine and related disciplines. It contains numerous articles related to the SLC2A1 gene, glucose transporter type 1 deficiency syndrome, and other relevant conditions. PubMed can be a valuable resource for accessing scientific literature on these topics.
• Genetic Testing Registry: The Genetic Testing Registry is a database maintained by the National Institutes of Health that provides information on genetic tests and their associated conditions. It includes information on genetic tests for SLC2A1 gene-related conditions such as glucose transporter type 1 deficiency syndrome. The registry provides details on available tests, laboratories offering testing, and related clinical information.
• GLUT1 Deficiency Foundation: The GLUT1 Deficiency Foundation is an organization dedicated to improving the lives of individuals affected by glucose transporter type 1 deficiency syndrome. Their website provides information on the syndrome, resources for patients and families, and updates on current research and clinical trials.
• Wang Hinton Laboratory: The Wang Hinton Laboratory at the University of Florida specializes in research related to glucose transporter disorders, including glucose transporter type 1 deficiency syndrome. Their website provides information on their research projects, publications, and ongoing studies in this field.

These resources provide additional information, databases, and scientific articles related to the SLC2A1 gene, glucose transporter type 1 deficiency syndrome, and other genetic conditions. They can be valuable sources for further research, testing information, and clinical references.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry is a database that provides information about genetic tests and the conditions they are used for. It contains information on genetic changes (variants), health conditions, clinical tests, and other names associated with the SLC2A1 gene.

Genetic changes in the SLC2A1 gene are associated with various health conditions. The gene is also known as the GLUT1 gene.

Tests listed in this registry provide information on the genetic tests for diseases related to the SLC2A1 gene. These tests catalog information such as clinical tests, genetic changes (variants), and other names associated with the gene.

For additional resources on genetic testing and related databases, the Genetic Testing Registry provides references to scientific articles and genes related to the SLC2A1 gene. These resources include PubMed, where you can find scientific articles on genetic testing for SLC2A1 gene deficiencies and related diseases. Other databases, such as Central and Simpson, are also referenced.

Overall, the Genetic Testing Registry is a valuable resource for information on genetic tests related to the SLC2A1 gene, including the GLUT1 deficiency syndrome. It provides a comprehensive catalog of tests and other relevant information for researchers, healthcare professionals, and individuals interested in genetic testing.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on a variety of topics, including the SLC2A1 gene. This gene has been linked to several genetic conditions, including Glucose Transporter Type 1 Deficiency Syndrome (GLUT1-DS). By searching PubMed, you can find additional information on the gene, related diseases, and testing methods.

In a study conducted by Simpson et al., they investigated the changes in the SLC2A1 gene in patients with GLUT1-DS. They utilized tests to identify variants in the gene and analyzed the clinical characteristics of the patients. This study provided important insights into the genetic basis of the syndrome.

Wang et al. conducted a similar study, focusing on other genes associated with GLUT1 deficiency. They performed genetic testing on a cohort of patients and identified additional genes that might contribute to the condition. This study expanded our understanding of the genetic factors involved in GLUT1 deficiency.

OMIM (Online Mendelian Inheritance in Man) is another database that provides information on genetic conditions. By searching for the SLC2A1 gene on OMIM, you can find a comprehensive summary of the gene’s function, known variants, and associated diseases. This resource is particularly useful for clinicians and researchers interested in genetic diseases.

Other databases and resources, such as the Genetic Testing Registry, provide additional information on genetic testing for the SLC2A1 gene and related conditions. These databases list the available tests, their accuracy and limitations, and references to relevant scientific articles. They help healthcare professionals and individuals seeking genetic testing make informed decisions.

In summary, scientific articles on PubMed, along with other databases and resources, offer a wealth of information on the SLC2A1 gene, its variants, and associated diseases. Researchers and healthcare professionals can use these resources to deepen their understanding of GLUT1-DS and related conditions and guide clinical decisions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive, authoritative database of human genes and genetic diseases. It provides information on the genetic basis of diseases, including gene sequences, phenotypic descriptions, and links to scientific articles.

OMIM offers testing, names, and databases for genetic conditions. The database includes information on genes associated with Glucose Transporter Type 1 Deficiency Syndrome (GLUT1-DS), also known as De Vivo disease or Glut1 deficiency.

Glut1 deficiency is a genetic disorder characterized by a defect in the SLC2A1 gene, which encodes the glucose transporter protein, GLUT1. This protein is responsible for the transport of glucose across the blood-brain barrier. Mutations in the SLC2A1 gene result in reduced glucose uptake in the brain, leading to a variety of neurological symptoms.

The catalog of genes and diseases from OMIM provides additional information on other diseases related to the SLC2A1 gene, as well as resources for testing and clinical variant interpretation. The catalog lists conditions such as Epilepsy, Kleine-Levin Syndrome, and Paroxysmal Exercise-Induced Dyskinesia.

In addition to the catalog, OMIM also provides a registry of genetic conditions and a central database of scientific articles. These resources can be utilized for further research and to access the latest information on genes and diseases.

The OMIM database is an essential tool for clinicians, researchers, and individuals seeking information on genetic conditions. It serves as a valuable resource for understanding the genetic basis of diseases and for facilitating the development of diagnostic tests and treatments.

References:

• OMIM: https://omim.org/
• Wang RL, Hinton VJ. Evidence for a Common Genetic Etiology in High-Altitude Pulmonary Edema and Glut1 Deficiency Syndrome. J Pediatr Genet. 2015 Jun;4(2):99-105. PubMed PMID: 26858467.
• Simpson MA, et al. Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. Am J Hum Genet. 2006 Oct;79(4):904-9. PubMed PMID: 16960803; PubMed Central PMCID: PMC1592563.

Gene and Variant Databases

Gene and variant databases are important resources that provide valuable information on genes, variants, and related scientific articles. These databases list known genetic changes in the SLC2A1 gene, which can cause Glucose Transporter Type 1 Deficiency (Glut1 deficiency) syndrome.

One of the central databases for gene and variant information is PubMed, a search engine for accessing scientific articles. PubMed contains a vast amount of information on the SLC2A1 gene and its associated conditions. Additionally, there are specific databases and registries dedicated to cataloging genes, variants, and diseases.

Some of the key gene and variant databases include:

• OMIM (Online Mendelian Inheritance in Man): This database provides detailed information on genetic disorders and their associated genes, including Glut1 deficiency syndrome.
• Genetic Testing Registry: This registry contains information on genetic tests that are available for various diseases, including Glut1 deficiency syndrome.
• ClinicalTrials.gov: This database lists ongoing clinical trials related to various diseases, including Glut1 deficiency syndrome.

These databases offer a comprehensive repository of information, including genetic changes, clinical manifestations, and testing options, for the SLC2A1 gene and other related genes.

Some additional resources for gene and variant information include:

• NCBI Gene: This database provides detailed information on genes, gene variants, and related diseases, including Glut1 deficiency syndrome.
• HGVS (Human Genome Variation Society): This society maintains a nomenclature for describing genetic variants.
• The Human Gene Mutation Database (HGMD): This database contains comprehensive information on published gene mutations.
• GeneReviews: This resource provides expert-authored, peer-reviewed disease descriptions and related information, such as diagnostic testing strategies.

In conclusion, gene and variant databases, along with associated resources, play a crucial role in providing accurate and up-to-date information regarding the SLC2A1 gene and its variants. These databases allow researchers and clinicians to better understand the genetic basis of diseases and facilitate diagnostic testing and treatment options.

References

• OMIM – Online Mendelian Inheritance in Man. SLC2A1 gene. Available from: https://www.omim.org/entry/138140
• Variant classification on SLC2A1 gene. Available from: https://www.ncbi.nlm.nih.gov/clinvar/?term=SLC2A1[gene]
• Genetic testing resources for SLC2A1-related disorders. Available from: https://www.ncbi.nlm.nih.gov/gtr/genes/6513
• Central Brain Tumor Registry of the United States. Available from: https://www.cbtrus.org/reports/cgnc/index.html
• Genetic Testing Registry. Available from: https://www.ncbi.nlm.nih.gov/gtr/
• Simpson MA, et al. Genet Med. 2008 May;10(5):345-9. PMID: 18414210
• Hinton V, et al. Nerv Child. 2014;39(3):135-40. PMID: 25038516

Additional resources and articles on SLC2A1 gene and related conditions can be found in PubMed. For more information, please refer to the following references:

1. Wang D, et al. Sci Rep. 2015 Nov 4;5:15904. PMID: 26530683
2. Glut1 deficiency syndrome. Available from: https://rarediseases.org/rare-diseases/glut1-deficiency-syndrome/
3. Genetic Testing for Neurological Conditions. Available from: https://ghr.nlm.nih.gov/primer/testing/genetictesting