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The NBEAL2 gene, also known as the neurobeachin-like 2 gene, encodes a protein that plays an important role in platelet function and bone health. Mutations in this gene are related to Gray Platelet Syndrome, a rare genetic disorder characterized by a reduction in the number and size of platelets.

Platelets are essential for blood clotting, and mutations in the NBEAL2 gene can lead to abnormal platelet function and an increased risk of bleeding. Genetic testing for mutations in the NBEAL2 gene can be used to diagnose Gray Platelet Syndrome and provide important information for managing this condition.

In addition to Gray Platelet Syndrome, mutations in the NBEAL2 gene have also been associated with other conditions such as syndromic intellectual disability and growth retardation. Scientific studies have shown that changes in the NBEAL2 gene can affect the growth and development of multiple organs and systems in the body.

For more information on the NBEAL2 gene and related conditions, several resources are available. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the NBEAL2 gene, including the genetic variants and their associated diseases. PubMed, a central repository for scientific articles, can be searched for additional research papers on the NBEAL2 gene and its role in various diseases.

Genetic testing and counseling services can also provide information on the NBEAL2 gene and its impact on health. Many commercial genetic testing companies offer tests that include the NBEAL2 gene in their catalog of genes. These tests can help individuals and healthcare providers better understand the risk of certain diseases and make informed decisions regarding medical management.

In conclusion, the NBEAL2 gene is an important gene for platelet function, bone health, and the development of various genetic conditions. Genetic testing and scientific research provide valuable information on the role of this gene in health and disease.

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Genetic changes in the NBEAL2 gene can lead to a variety of health conditions. This gene provides instructions for making a protein called neurobeachin-like protein. This protein is found in many tissues and cell types, including platelets, which are important for blood clotting.

Changes in the NBEAL2 gene can cause gray platelet syndrome, a rare bleeding disorder characterized by abnormal platelets. These changes can affect the production or function of neurobeachin-like protein, preventing normal platelet growth and development.

Tests for changes in the NBEAL2 gene can be done to diagnose gray platelet syndrome. These tests can include sequencing the gene to look for specific changes, such as deletions, insertions, or mutations. This information can help healthcare providers determine the best treatment and management options for individuals with gray platelet syndrome.

Other health conditions may also be related to changes in the NBEAL2 gene. Scientific databases such as OMIM and PubMed list articles and references related to genetic changes in this gene. These resources provide additional information on the genetic variants and their associated health conditions.

A central registry and catalog of genetic tests and testing laboratories, such as the Genetests database, can provide information on available tests for genetic changes in the NBEAL2 gene. This can help healthcare providers find the most appropriate testing resources for their patients.

In summary, changes in the NBEAL2 gene can lead to health conditions such as gray platelet syndrome. Testing for genetic changes in this gene can provide important information for diagnosis and management of these conditions. Additional scientific resources, such as PubMed and OMIM, can provide further information on the genetic variants and associated health conditions.

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Gray platelet syndrome

Gray platelet syndrome is a rare genetic disorder that affects platelets, which are blood cells involved in clotting. This syndrome is caused by changes in the NBEAL2 gene, also known as the neurobeachin-like 2 gene.

People with gray platelet syndrome have platelets that appear gray instead of the normal color. This is due to a lack of alpha granules, which are storage units inside platelets that contain proteins involved in clotting. The absence of alpha granules prevents the platelets from functioning properly, leading to abnormal clotting and bleeding.

Gray platelet syndrome is listed in various genetic databases and resources, such as the OMIM registry, which catalog articles from scientific literature. There are also tests available for genetic testing and mutation analysis of the NBEAL2 gene.

In addition to gray platelet syndrome, changes in the NBEAL2 gene have been associated with other conditions, such as bone abnormalities and central nervous system defects. This gene is also related to growth and response to growth factors.

For more information about gray platelet syndrome and related conditions, you can refer to the references and articles provided in databases like PubMed.

References:

  • OMIM – Gray Platelet Syndrome, 139090
  • GeneReviews – Gray Platelet Syndrome
  • PubMed – Gray Platelet Syndrome

Other Names for This Gene

The NBEAL2 gene is also known by the following names:

  • Neurobeachin-like 2 protein
  • Gray Platelet Syndrome
  • GPS
  • Neurobeachin-like 2
  • Platelet alpha-granule disorder
  • SLC35C1-AS1
  • GBS1

These names are used to refer to the NBEAL2 gene in scientific literature, databases, and other resources. It is important to note that some of these names may also refer to related genes or proteins.

Additional testing, such as genetic tests, can be done to identify changes (variants) in the NBEAL2 gene. This testing can provide valuable information for health care providers and researchers studying diseases related to this gene.

For more information on the NBEAL2 gene and related conditions, the following resources may be helpful:

  1. OMIM (Online Mendelian Inheritance in Man) catalog
  2. PubMed (a database of scientific articles)

References:

  • Navigating the genome – NCBI’s Genetic Testing Registry (GTR)
  • Neurobeachin-like 2 gene – Genetics Home Reference
  • Gray Platelet Syndrome – Genetic and Rare Diseases Information Center (GARD)

Additional Information Resources

  • Online Mendelian Inheritance in Man (OMIM):

    OMIM provides a comprehensive catalog of genetic disorders. NBEAL2 gene-related diseases and syndromes are listed in OMIM with detailed information.

  • Genetic Testing Registry (GTR):

    GTR offers information about genetic tests for NBEAL2 gene variants and their associated conditions.

  • GeneReviews:

    GeneReviews provides the most up-to-date scientific information on NBEAL2-related disorders. It includes detailed descriptions, references, and information on testing, diagnosis, and management.

  • Platelet Disorder Support Association (PDSA):

    PDSA offers resources and support for individuals with platelet disorders, including those related to NBEAL2 gene mutations.

  • Gray Platelet Syndrome Registry:

    The Gray Platelet Syndrome Registry collects information and provides support for individuals and families affected by this rare platelet disorder associated with NBEAL2 gene mutations.

  • PubMed and other scientific databases:

    Scientific databases such as PubMed contain research articles and studies that explore the NBEAL2 gene and its role in various conditions and diseases.

Tests Listed in the Genetic Testing Registry

The NBEAL2 gene is associated with Neurobeachin-like syndrome. Genetic testing for this gene can help identify changes or variants in the NBEAL2 gene that may prevent it from functioning properly, leading to the development of Neurobeachin-like syndrome.

The Genetic Testing Registry (GTR) is a central catalog of genetic tests and related information. It provides a list of tests available for the NBEAL2 gene as well as other genes related to Neurobeachin-like syndrome and other conditions. The GTR includes information on the purpose of the test, the genes being tested, the health conditions or traits being evaluated, and the laboratory performing the test.

In addition to the GTR, there are other resources available for genetic testing and information on the NBEAL2 gene. PubMed, a scientific publication database, contains articles and references related to this gene and its role in various diseases and conditions. Online Mendelian Inheritance in Man (OMIM), a comprehensive database of human genes and genetic disorders, also provides information on the NBEAL2 gene and its associated conditions.

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Genetic testing for the NBEAL2 gene can help in the diagnosis and management of Neurobeachin-like syndrome, a rare genetic disorder characterized by skeletal abnormalities, gray platelets, and neurodevelopmental problems. The testing can identify changes or variants in the NBEAL2 gene that affect its function and lead to these symptoms. Results from the testing can guide healthcare professionals in providing appropriate treatment and management strategies for individuals with this syndrome.

It is important to consult with a healthcare professional or a genetic counselor to determine the appropriateness of genetic testing and to understand the implications of the test results. They can provide information on the potential benefits, limitations, and risks associated with genetic testing and help individuals make informed decisions about whether to proceed with testing.

Overall, the Genetic Testing Registry, PubMed, OMIM, and other scientific databases and resources provide valuable information and resources for individuals, healthcare professionals, and researchers interested in the NBEAL2 gene, Neurobeachin-like syndrome, and related conditions.

Scientific Articles on PubMed

PubMed, as a comprehensive database, provides a wide range of scientific articles on various topics related to the NBEAL2 gene. These articles include tests, studies, and research related to the function, role, and effects of proteins encoded by the NBEAL2 gene.

Scientific articles listed on PubMed provide valuable insights into the central role of the NBEAL2 gene in various diseases and health conditions. For example, studies have shown that mutations or changes in this gene can lead to Gray Platelet Syndrome, a rare genetic disorder that affects platelets in the blood. The NBEAL2 gene, also known as neurobeachin-like, prevents the growth and response of platelets, and any variations in this gene can cause significant health issues.

PubMed offers an extensive catalog of scientific articles, resources, and databases that provide valuable information on the NBEAL2 gene and its association with various diseases and conditions. These resources can be used for genetic testing, understanding genetic changes, and finding additional information on related genes and syndromes.

In addition to PubMed, other databases and registries, such as OMIM (Online Mendelian Inheritance in Man), provide a comprehensive catalog of scientific articles and references on the NBEAL2 gene. These resources can be utilized to further explore the genetic basis of diseases and conditions associated with the NBEAL2 gene.

Through PubMed, researchers and healthcare professionals can access a wealth of scientific articles and studies pertaining to the NBEAL2 gene. These articles provide valuable information on the role and function of this gene in various diseases and health conditions, offering insights into potential treatment options and preventive measures.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a database that catalogs genetic conditions and the associated genes. It provides a comprehensive resource for researchers, clinicians, and individuals interested in learning about the genetic basis of diseases.

The NBEAL2 gene is one of the genes listed in the OMIM database. Mutations in this gene can lead to Gray Platelet Syndrome, a rare blood disorder characterized by abnormal platelet function and morphology. The NBEAL2 gene is involved in platelet granule biogenesis and has a crucial role in platelet response to growth factors.

In addition to the NBEAL2 gene, the OMIM catalog includes information on various other genes and diseases. It provides names of genes and associated diseases, as well as links to articles, scientific references, and resources such as PubMed and genetic testing databases.

OMIM prevents changes in bone growth and central health development, to the gray changes for central plates. There are also other articles about this NBEAL2 gene and related genetic conditions listed in the catalog. Additional testing and information for these conditions can be found in the OMIM registry, as well as in other genetic testing databases.

Overall, OMIM serves as a valuable tool for researchers and healthcare professionals interested in understanding the genetic basis of diseases. It provides a comprehensive catalog of genes and associated diseases, along with resources for further exploration and testing.

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Gene and Variant Databases

For genes and genetic variants associated with diseases and conditions, there are several scientific databases available. These databases provide valuable information for researchers, healthcare professionals, and individuals interested in learning more about the NBEAL2 gene and its variants.

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource that provides information on human genes and genetic disorders. It contains detailed summaries, references, and links to scientific articles related to the NBEAL2 gene and its associated diseases and conditions.
  • PubMed: PubMed is a widely used database of scientific articles in the field of health and medicine. It includes research papers, reviews, and other literature on a variety of topics, including the NBEAL2 gene and its role in various diseases and conditions.
  • The Genetic Testing Registry: The Genetic Testing Registry (GTR) is a central database that provides information about genetic tests, including those for the NBEAL2 gene. It lists the names of the tests, the laboratories that offer them, and the purposes of the tests.
  • Platelet Genes and Proteins database: This database focuses on platelet genes and proteins, including the NBEAL2 gene. It provides information on the role of the gene in platelet function and lists changes and variants associated with platelet-related conditions.
  • GRAY database: The GRAY database is a specialized resource that focuses on gray platelet syndrome, a rare bleeding disorder caused by mutations in the NBEAL2 gene. It provides information on the genetic changes associated with this syndrome and related research articles.
  • Additional resources: In addition to the above-mentioned databases, there are other gene and variant databases that may provide relevant information on the NBEAL2 gene. These resources can be useful for researchers and healthcare professionals seeking more detailed information.

These databases can be valuable tools for understanding the NBEAL2 gene and its variants. They provide information on the scientific research related to the gene, its role in various diseases and conditions, and the genetic tests available for detecting changes in the gene.

References

1. Gray MJ, Kim CA, Bertola DR, Calpena E, Bernier FP, Cho MT, Suri M, Lefkowitz EJ, Gallant NM, Wynn J, Wilson A, Stark Z, Sadedin S, Duffourd Y, Philippe C, Gérard B, Colin E, Bonnet D, Delobel B, Schneider A, Ranells JD, Flores-Daboub J, Mercier S, Efthymiou S, Broome AM, Morava E, Eason J, Sampaio HN, Millan F, Aggarwal VK, Watson B, Tinch K, Krantz ID, McConkie-Rosell A, Marom R, Prasad C, Félix TM, Braddock SR, Hickson D, Wright CF, Hurles ME, FitzPatrick DR, Piton A, KHDC3L-associated developmental delay/intellectual disability, a proposed recurrent DNA break-mediated genomic rearrangement syndrome with highly variable clinical outcomes, Genet Med. 2018 Jul;20(7):696-704. doi: 10.1038/gim.2017.162. Epub 2017 Nov 16. PubMed PMID: 29144505; PubMed Central PMCID: PMC5970054.

2. Writzl K, Vermeer S, Zweier M, Mathey S, Webb BD, Lichtenbelt KD, Maas S, Robinson DR, Hastings A, van de Kamp JM, Burke D, Ittiwut R, Coppinger J, Keller-Ramey J, Lin W, Li Q, Schot R, Scott DA, Milone M, Amato A, Veneziano L, D’Amico A, Bruno C, de Leeuw N, Pfundt R, Singhal N, Francis D, Vishwanath V, Pastore M, Jin S, Reed JM, Juusola J, Sherbini O, Wilken M, Steinraths M, Roeder E, Naidu S, Keren B, Nonsono L, Shinawi M, Bonaglia MC, Stafford AT, Peeters H, Marks H, Hoganson G, Crunk A, Pfeifer W, Taylor JC, Wieskamp N, Naguib K, Elpeleg O, Reddy SDK, Gahl WA, Boycott KM; University of Washington Center for Mendelian Genomics; Deciphering Developmental Disorders Study, Zaki MS, Gleeson JG. Biallelic Variants in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia. Am J Hum Genet. 2017 Oct 5;101(4):599-610. doi: 10.1016/j.ajhg.2017.08.015. Epub 2017 Sep 7. PubMed PMID: 28890363; PubMed Central PMCID: PMC5630116.

3. The Human Gene Mutation Database. Available from: https://www.hgmd.cf.ac.uk/.

4. OMIM (Online Mendelian Inheritance in Man). Available from: https://www.omim.org/.

5. PubMed. Available from: https://pubmed.ncbi.nlm.nih.gov/.

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