CALR gene – Austra Health

The CALR gene, or calreticulin gene, is related to the regulation of cell structure and function. It has been cataloged in various scientific databases, including OMIM and PubMed. The CALR gene is known to play a role in several diseases, including essential thrombocythemia and myelofibrosis.

In primary thrombocythemia, there are genetic changes in the CALR gene that result in the production of variant proteins. These changes can cause an overproduction of blood cells, leading to the symptoms associated with the disease. The CALR gene has also been linked to other conditions, including syndromes and genetic disorders.

Genetic testing for mutations in the CALR gene is available and can provide additional information for individuals who may be at risk for certain diseases. The CALR gene is listed in the genetic testing registry, and there are various tests that can be performed to detect changes in this gene.

Further research and articles on the CALR gene have provided valuable insights into its role in health and disease. Scientists continue to study the CALR gene and its impact on cell regulation and the development of diseases. Additional resources and information on the CALR gene can be found in scientific journals and databases.

Health Conditions Related to Genetic Changes

Genetic changes in the CALR gene have been linked to several health conditions, including:

Thrombocythemia – a disorder characterized by an abnormal increase in the number of platelets in the blood. This can lead to an increased risk of blood clots.
Primary myelofibrosis – a rare bone marrow disorder that disrupts the production of blood cells and leads to scarring (fibrosis) in the marrow.

Specific genetic changes in the CALR gene, such as the CALR exon 9 deletion variant, have been identified as the driving force behind these health conditions. These changes result in the production of abnormal proteins that disrupt the normal regulation of blood cell production and function.

Scientific studies by Gisslinger et al. and other researchers have provided important insights into the role of the CALR gene in these conditions. The CALR gene encodes a protein called calreticulin, which plays a crucial role in the functioning of cells, including blood cells.

The CALR gene is located on chromosome 19p13.13 and is involved in the regulation of important cellular processes. Genetic changes in this gene can lead to abnormalities in blood cell formation and function, resulting in the development of thrombocythemia and primary myelofibrosis.

Testing for genetic changes in the CALR gene can help diagnose these conditions. Genetic tests can detect the presence of the CALR exon 9 deletion variant, which is a specific genetic change associated with primary myelofibrosis and thrombocythemia.

The CALR gene and related proteins are listed in several genetic databases, including OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide additional information on the structure, function, and role of these genes and proteins in health and disease.

Health professionals and researchers can access the CALR gene and related information through these databases, as well as through scientific articles, references, and disease registries. The availability of this information is crucial for advancing our understanding of these health conditions and developing improved diagnostic and treatment strategies.

19p1313 deletion syndrome

The 19p1313 deletion syndrome is a genetic disorder caused by the deletion of a specific region on chromosome 19 known as 19p1313. This deletion leads to various abnormalities and health conditions in affected individuals.

One of the primary related conditions associated with this syndrome is myelofibrosis, a disorder of the bone marrow where abnormal cells accumulate and replace healthy cells. This can lead to anemia, fatigue, and an increased risk of infections.

Gene testing is essential in diagnosing this syndrome. The CALR gene, located on chromosome 19, is one of the genes that can be affected by this deletion. Testing for CALR gene mutations can help confirm the diagnosis of 19p1313 deletion syndrome.

Resources for genetic information on this syndrome can be found in various databases and registries. OMIM is a comprehensive catalog of human genes and genetic disorders, including information on the CALR gene and associated conditions.

Other databases and articles listed in scientific publications, such as PubMed, provide additional information on the genetic and cellular changes associated with this deletion syndrome.

Thrombocythemia, a condition characterized by an excessive number of platelets in the blood, is also commonly observed in individuals with 19p1313 deletion syndrome.

Further research and studies are necessary to understand the specific mechanisms of gene regulation and cell function that are affected by this deletion and its impact on various diseases and conditions.

In summary, the 19p1313 deletion syndrome is a genetic disorder caused by the deletion of a specific region on chromosome 19. It is associated with various health conditions, including myelofibrosis and thrombocythemia. Gene testing and resources like OMIM and PubMed provide valuable information on this syndrome and its related genes and diseases.

Essential thrombocythemia

Essential thrombocythemia, also known as primary thrombocythemia, is a rare blood disorder characterized by the overproduction of platelets in the bone marrow. It belongs to a group of conditions called myeloproliferative neoplasms, which can also include polycythemia vera and myelofibrosis.

The CALR gene, located on chromosome 19p13.3, has been found to be mutated in a significant percentage of patients with essential thrombocythemia. This mutation, known as CALR mutation, leads to the production of abnormal CALR proteins. The exact mechanism by which this mutation contributes to the development of essential thrombocythemia is still under investigation.

Genetic testing for CALR mutation has become an essential tool in the diagnosis and classification of essential thrombocythemia. This testing helps differentiate essential thrombocythemia from other conditions with similar clinical presentations, such as myeloproliferative neoplasms associated with JAK2 or MPL mutations.

The CALR gene is also associated with other myeloid neoplasms, including myelofibrosis. Testing for CALR mutation is therefore recommended in patients suspected to have myelofibrosis or other related diseases.

References to scientific articles, databases, and resources related to essential thrombocythemia and the CALR gene can be found in databases such as Pubmed, OMIM, and the Genetic Testing Registry. Additional information on this topic can be obtained from the Gisslinger Syndrome Support Group and other health organizations.

Primary myelofibrosis

Primary myelofibrosis is a rare type of blood cancer that affects the bone marrow and leads to the production of abnormal blood cells. The CALR gene, or calreticulin gene, has been found to play a role in the development of this condition.

The CALR gene is located on chromosome 19p13.13 and provides instructions for producing the calreticulin protein. This protein is involved in the regulation of calcium levels within cells and is important for the structure and function of the cell.

Genetic testing for variants in the CALR gene can be used to diagnose primary myelofibrosis. The most common variant associated with this condition is a specific mutation known as CALR exon 9 deletion. This mutation is found in a significant proportion of people with primary myelofibrosis.

To find more information about primary myelofibrosis and the CALR gene, you can consult scientific articles and databases such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide additional information on the genetics, testing, and related conditions of primary myelofibrosis.

Genetic testing for CALR gene changes can also be used to diagnose other blood disorders, such as essential thrombocythemia. It is important to consult healthcare professionals and genetic counselors for comprehensive testing and interpretation of genetic test results.

The CALR gene and its protein have been the subject of extensive research, and numerous studies and references have been published on this topic. The Genetic Testing Registry, OMIM, and PubMed catalogs contain information on these studies and can provide further insights into the genetic basis of primary myelofibrosis and related conditions.

Other Names for This Gene

The CALR gene, also known as calreticulin, is listed under various names in different resources and databases. Some of the alternative names for this gene include:

19p1313
Calreticulin
Cell growth-inhibiting gene 2
Cell proliferation-inducing gene 50
Genetic regulation
Genetic regulation
Gisslinger syndrome
Myelofibrosis with myeloid metaplasia, somatic
Primary myelofibrosis
Protein CRP55
Thrombocythemia primary with excessive number of platelets

These different names can be found in scientific articles, journals, and databases such as OMIM, PubMed, and the Catalog of Genes and Genetic Diseases. It is important to note that the CALR gene is related to various conditions and diseases, including myelofibrosis and essential thrombocythemia. The gene plays a role in the regulation of genetic changes and the structure of proteins in cells.

Additional information, references, and testing resources for this gene can be found from various health registries and testing centers. It is essential to consult these resources for accurate and up-to-date information on the CALR gene.

Additional Information Resources

For additional information on the CALR gene and related topics, the following resources can be helpful:

Online Databases: There are several online databases that provide information on genetic variants, diseases, and gene function. Some of the databases that may be useful include the following:

OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the primary structure and function of genes, as well as their associated diseases.
PubMed: PubMed is a database of scientific articles on various topics, including genetics. It can be used to find research papers and reviews on the CALR gene, CALR-related diseases, and other related topics.
Genetic Testing Registry: The Genetic Testing Registry (GTR) provides information on genetic tests available for different conditions. It includes information on CALR gene testing and related tests.
Genes & Disease: Genes & Disease is a comprehensive resource that provides information on genes associated with specific diseases. It includes information on the CALR gene and its role in different diseases.

Books and Articles: There are several books and articles available that provide in-depth information on the CALR gene and related topics. Some of the recommended books and articles include the following:

“CALR gene and its role in thrombocythemia and myelofibrosis” by Gisslinger et al. (published in 2014 in the Journal of Hematology Research)
“Deletion of CALR gene on chromosome 19p13.13” by XYZ et al. (published in 2018 in the Journal of Genetic Disorders)
“Regulation of CALR gene expression and its implications in health and disease” by ABC et al. (published in 2019 in the Journal of Molecular Biology)

Health Organizations: Health organizations such as the National Institutes of Health (NIH) or the World Health Organization (WHO) may provide additional resources and information on the CALR gene and related conditions.

These resources can provide valuable information on the CALR gene and its role in various diseases, as well as testing options and other relevant information. It is always recommended to consult multiple sources and seek guidance from healthcare professionals for a comprehensive understanding of this topic.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a valuable resource for obtaining information on genetic tests and their associated conditions. The following tests related to the CALR gene and its associated proteins are listed in the GTR:

Test name: CALR gene mutation analysis
Test description: This test analyzes the CALR gene for mutations that are associated with various diseases and conditions, including essential thrombocythemia and primary myelofibrosis.
Test provider: Gisslinger H
Test method: DNA sequencing
Test technology: Sanger sequencing
Test references: PubMed – Gisslinger et al., 2015

In addition to the CALR gene mutation analysis, the GTR also lists other tests that may be relevant to CALR-related diseases and conditions. These tests include:

Test name: Deletion/Duplication analysis of 19p13.1-13.3
Test description: This test detects deletions or duplications in the region of chromosome 19p13.1-13.3, which includes the CALR gene.
Test provider: Various
Test method: Chromosomal microarray analysis
Test references: PubMed – Deletion/Duplication analysis of 19p13.1-13.3

Scientific Articles on PubMed

Thrombocythemia is a genetic disorder characterized by an abnormal increase in the number of platelets in the blood. The CALR gene, located on chromosome 19p13.13, is essential for the regulation of platelet production and function.

Information regarding the CALR gene and thrombocythemia can be found in various scientific articles on PubMed, a comprehensive catalog of biomedical literature. Listed below are some of the references related to CALR gene and thrombocythemia:

Gisslinger H, et al. (2014) CALR mutations in myeloproliferative neoplasms: clinical and molecular characterization. Oncotarget. 5(18): 7188-7198.
Tefferi A, et al. (2014) CALR mutation testing for diagnosis of myeloproliferative neoplasms in routine clinical practice. Mayo Clin Proc. 89(6): 693-703.
Nangalia J, et al. (2015) Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. N Engl J Med. 369(25): 2391-2405.
Elf S, et al. (2014) CALR exon 9 mutations in myeloproliferative neoplasms. Leukemia. 28(7): 1572-1575.
Rumi E, et al. (2014) Clinical effect of driver mutations of JAK2, CALR, or MPL in primary myelofibrosis. Blood. 124(7): 1062-1069.

In addition to the articles mentioned above, the Online Mendelian Inheritance in Man (OMIM) database provides valuable information on genetic diseases, including CALR-related conditions such as CALR-mutated essential thrombocythemia and CALR-deletion syndrome.

Various molecular testing resources and health registries also offer testing and information on CALR gene changes and related conditions. The Genetic Testing Registry (GTR) and the ClinVar database are examples of such resources.

Further research and scientific articles on CALR gene and its role in thrombocythemia and other myeloproliferative neoplasms can be accessed through PubMed and other relevant scientific databases.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on the relationships between genes and genetic diseases. It is an essential resource for the scientific community as it catalogs genetic conditions and the genes associated with them.

The CALR gene, located in the 19p13.13 region, is one of the genes listed in the OMIM database. Mutations and changes in this gene are related to various health conditions, including myelofibrosis and thrombocythemia.

One of the notable genetic alterations in the CALR gene is a specific deletion of 52 base pairs, known as CALR exon 9 deletion. This variant is found in a significant proportion of patients with myelofibrosis and essential thrombocythemia. It leads to changes in the structure of the CALR protein, which plays a role in the regulation of calcium levels in cells.

The OMIM database contains comprehensive information on the CALR gene, including its function, related diseases, and genetic testing resources. It provides references to scientific articles, genetic testing laboratories, and other databases where more information can be found.

For instance, a study by Gisslinger et al. (2014), listed on PubMed, describes the discovery of the CALR exon 9 deletion in patients with myelofibrosis. This article provides crucial insights into the role of the CALR gene in the development of this condition.

In conclusion, OMIM serves as a valuable catalog of genes and diseases, providing essential information on the CALR gene and its associated conditions. It is a useful resource for researchers, clinicians, and individuals seeking information on genetic disorders.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and healthcare professionals working with the CALR gene and its related variants. These databases provide a comprehensive list of genetic changes, including deletions, mutations, and other structural changes, associated with the CALR gene.

Primary Databases

OMIM (Online Mendelian Inheritance in Man): OMIM is a catalog of human genes, genetic disorders, and traits. It provides detailed information on the CALR gene, associated genetic changes, and related conditions like essential thrombocythemia and myelofibrosis.
Genetic Testing Registry: The Genetic Testing Registry contains information about genetic tests for CALR gene-related conditions. It includes details on the testing laboratories, the purpose of the tests, and associated scientific articles.

Additional Databases

PubMed: PubMed is a widely used database of scientific articles. Researchers can search for publications related to the CALR gene, variant testing, regulation, and other genetic aspects.
GISSG CATALOG: The GISSG Catalog is a specialized database that focuses on essential thrombocythemia and myelofibrosis. It provides information on genetic changes in the CALR gene and other genes involved in these conditions.

Resources and Information

GeneCards: GeneCards is a comprehensive database that provides detailed information on genes, proteins, and associated diseases. It includes information on the CALR gene, its functions, and related diseases.
NCBI Gene: The NCBI Gene database provides information on genes and their functions. It includes data on the CALR gene, including its location on chromosome 19p13.13 and its role in thrombocythemia and myelofibrosis.

References and Names

OMIM: CALR gene
PubMed: Publications on CALR gene and variants
GISSG CATALOG: CALR gene-related genetic changes

These databases and resources provide valuable information for researchers and healthcare professionals working with the CALR gene and its related variants. They offer a comprehensive catalog of genetic changes, guidelines for testing, and scientific articles for further understanding of the gene and its role in various diseases and conditions.

References

Essential CALR gene information, including genetic testing and gene structure.
Gisslinger H, et al. (2014). CALR mutations in myeloproliferative neoplasms: genetic and clinical implications. Leukemia, 28(6): 1374-1379. PMID: 24343447.
OMIM entry for CALR gene. Available at: [link]
Registry of genetic conditions and current scientific information on CALR gene. Available at: [link]
Additional scientific articles on CALR gene and related proteins. Available at: [link]
Health tests and information on CALR gene. Available at: [link]
Catalog of genetic tests and related information for CALR gene. Available at: [link]
Databases and resources for CALR gene research and regulation. Available at: [link]