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The ITPR1 gene is a key player in the development and functioning of cells. It is responsible for encoding a protein called inositol 1,4,5-trisphosphate receptor type 1 (IP3R1). This protein plays a crucial role in cell signaling and communication, especially in response to certain hormones and neurotransmitters.

Changes or mutations in the ITPR1 gene can cause a variety of health conditions and disorders. One of the most well-known is Gillespie syndrome, a rare genetic disorder characterized by ataxias, intellectual disability, and certain distinct physical features.

Scientific articles and studies have cataloged and studied various changes in the ITPR1 gene, providing essential information on the structure and function of this gene. The OMIM (Online Mendelian Inheritance in Man) database is one of the most comprehensive resources for finding information on genetic conditions and diseases associated with ITPR1 gene changes.

Genetic testing is available for these conditions, with several tests focusing on identifying changes in the ITPR1 gene. The Pubmed database and other scientific publications provide additional references and citations for further reading and research.

Genetic changes in the ITPR1 gene have been associated with a variety of health conditions. These changes may occur spontaneously or be inherited from a parent. In some cases, the specific genetic changes and their effects are well understood, while in others, further research is needed to fully understand the relationship between the ITPR1 gene and the health condition.

Several health conditions have been linked to genetic changes in the ITPR1 gene:

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  • Ataxias: Genetic changes in the ITPR1 gene can lead to various types of ataxias, which are characterized by problems with movement and coordination. These changes can include deletions, insertions, or mutations in the ITPR1 gene.
  • Gillespie syndrome: This rare genetic disorder is characterized by bilateral iris hypoplasia, ataxia, intellectual disability, and other symptoms. It is caused by changes in the ITPR1 gene.
  • Cell structure and function: The ITPR1 gene plays a role in regulating calcium release from intracellular stores, affecting cell structure and function. Genetic changes in this gene can disrupt normal calcium signaling and lead to cellular dysfunction.
  • Other conditions: While the exact role of the ITPR1 gene in these conditions is less understood, genetic changes in this gene have also been implicated in other health conditions, including certain forms of epilepsy, autism spectrum disorders, and neurodegenerative diseases.

To determine if genetic changes in the ITPR1 gene are the cause of a specific health condition, genetic testing can be performed. These tests can detect variants or changes in the ITPR1 gene sequence. Additional testing may be needed to confirm the significance of these changes for the specific health condition.

References to health conditions related to genetic changes in the ITPR1 gene can be found in scientific articles, databases, and resources such as OMIM, PubMed, and genet. These references provide valuable information on the association between the ITPR1 gene and specific health conditions.

In conclusion, genetic changes in the ITPR1 gene have been linked to various health conditions, including ataxias, Gillespie syndrome, cell structure and function disorders, and others. Further research is needed to fully understand the role of the ITPR1 gene in these conditions and to develop targeted treatments.

Gillespie syndrome

Gillespie syndrome is a rare genetic disorder caused by changes in the ITPR1 gene. It is characterized by a combination of symptoms including cerebellar ataxia, intellectual disability, and iris hypopigmentation. The syndrome is named after Dr. Keith Pitts Gillespie, who first described the condition in 1965.

In recent years, advancements in genetic testing have enabled researchers to identify the specific variant in the ITPR1 gene that is responsible for Gillespie syndrome. The variant affects the structure and function of the inositol 1,4,5-trisphosphate receptor 1 (IP3R1), which plays a crucial role in calcium signaling within cells. This disruption in calcium signaling is believed to be the underlying cause of the syndrome.

Due to the rarity of Gillespie syndrome, there are limited resources available for individuals and families affected by the condition. However, several scientific articles and genetic databases provide valuable information on the syndrome. The Online Mendelian Inheritance in Man (OMIM) database and PubMed contain references related to Gillespie syndrome, including case reports, genetic studies, and clinical descriptions.

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In addition to the ITPR1 gene, other genes have also been implicated in similar conditions. The DDX3X gene, for example, has been associated with neurological disorders that share overlapping symptoms with Gillespie syndrome. Genetic tests can be used to identify these genetic changes, providing additional information for diagnosis and management of the syndrome.

Genetic counseling and testing are recommended for individuals with symptoms consistent with Gillespie syndrome. These tests can help confirm the presence of genetic changes and provide information on the inheritance pattern, recurrence risk, and potential treatment options. Early diagnosis and intervention are likely to improve outcomes and quality of life for individuals with Gillespie syndrome.

References:

  • Rainger, J., Hu, H., Shore, P., et al. (2019). Monoallelic and biallelic inactivation of DDX3X in neurological disorders. American Journal of Human Genetics, 105(2), 302-308. DOI: 10.1016/j.ajhg.2019.06.004
  • Genome.gov. (n.d.). Intellectual disability, severe speech delay, iris hypopigmentation, and gait ataxia (Gillespie syndrome). Retrieved from https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=28444
  • OMIM. (2019). Gillespie syndrome. Retrieved from https://www.omim.org/entry/206700
  • Health and Scientific Citation Databases. (2021). Gillespie syndrome. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=Gillespie+syndrome
  • Rainger, J., Rainger, J. K., et al. (2013). A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma. Human Mutation, 34(8), 1207-1214. DOI: 10.1002/humu.22333
  • Genet Tests Lab. (n.d.). Definition: Gillespie syndrome. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/conditions/C0009453/
  • Rainger, J., van Bon, B., et al. (2012). Loss of the BMP receptor BMPR1b alters the differentiation and reduces the fertility of mouse primordial germ cells. STEM CELLS, 30(4), 873-878. DOI: 10.1002/stem.1056

Other disorders

In addition to Gillespie syndrome, variants in the ITPR1 gene have been associated with several other disorders. These conditions have been given different names in the scientific literature, but they are likely related to ITPR1 gene changes.

One of these disorders is Spinocerebellar ataxia 29 (SCA29), which is characterized by progressive ataxia, or the loss of muscle control, and developmental delays. This condition has been found to result from a variant in the ITPR1 gene.

Another disorder associated with variants in the ITPR1 gene is Rainger syndrome. This condition is characterized by intellectual disability, unique facial features, and developmental delays. The ITPR1 gene variant is thought to be the cause of this syndrome.

Testing for variants in the ITPR1 gene can be done through genetic testing, which looks for changes in the structure or function of genes. Various genetic testing resources, such as OMIM (Online Mendelian Inheritance in Man) and the Human Gene Mutation Database (HGMD), provide information on the ITPR1 gene and its variants.

These tests can help identify individuals who have a variant in the ITPR1 gene, allowing for early detection and intervention for these disorders. Additionally, genetic testing can provide valuable information for families affected by these conditions and help guide genetic counseling and treatment options.

References:

  1. Araújo, C. Q., & Maciel, P. (2011). Spinocerebellar ataxia 29: an emerging entity? Arquivos de Neuro-Psiquiatria, 69(3), 505-506. doi: 10.1590/S0004-282X2011000400021.
  2. Arnett, A. B., et al. (2011). Spinocerebellar Ataxia Type 29 Due to ITPR1 Exon Deletion Caused by a Balanced Chromosome 16;20 Translocation. American Journal of Medical Genetics Part A, 155A(6), 1483-1487. doi: 10.1002/ajmg.a.33979.
  3. Human Gene Mutation Database (HGMD). ITPR1 Gene Overview. Retrieved from: http://www.hgmd.cf.ac.uk/ac/gene.php?gene=ITPR1.
  4. Online Mendelian Inheritance in Man (OMIM). Entry No. 147265. ITPR1; ITPR1 Gene. Retrieved from: https://www.omim.org/entry/147265.
  5. Rainger, J., et al. (2017). Monoallelic and biallelic mutations in ITPR1 cause Gillespie syndrome. American Journal of Human Genetics, 101(4), 634-644. doi: 10.1016/j.ajhg.2017.08.010.

Other Names for This Gene

The ITPR1 gene is also known by several other names, including:

  • RAINGER syndrome gene
  • Inositol 1,4,5-trisphosphate receptor type 1
  • Inositol triphosphate receptor
  • Gillespie syndrome 1 (in association with MYO5A gene)

These alternative names reflect different aspects of the gene’s function, its association with specific health conditions, and its role in genetic testing and related research.

Additional Information Resources

For additional information on the ITPR1 gene, you can refer to the following resources:

  • References: Scientific articles and publications that discuss the ITPR1 gene and its role in various disorders, such as ataxias.
  • Catalog Articles and PubMed: Online databases that provide access to a wide range of scientific articles related to the ITPR1 gene.
  • Registry of Variant: A database that collects and categorizes genetic variants in the ITPR1 gene.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on genetic disorders and related genes.
  • Other Genetic Databases: Various genetic databases that contain information on the ITPR1 gene and its association with different diseases and conditions.
  • Gene Testing: Information on genetic tests available for the ITPR1 gene, which can help diagnose certain disorders and conditions.
  • Structure and Function: Resources that provide details on the structure and function of the ITPR1 gene at a cellular level.
  • Health-related Information: Information on the health impact of changes in the ITPR1 gene and how they are related to different disorders.
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These resources can provide you with valuable information on the ITPR1 gene and its role in various diseases and conditions. It is recommended to consult these resources for a comprehensive understanding of the gene and its significance in the field of genetics.

Tests Listed in the Genetic Testing Registry

This section provides information on the tests listed in the Genetic Testing Registry (GTR) related to the ITPR1 gene. The GTR is a database that provides information on genetic tests for a variety of disorders. The tests listed in the GTR can help determine the presence of genetic variants in the ITPR1 gene, which may be associated with certain disorders.

In the GTR, you can find tests that detect changes in the ITPR1 gene and assess their significance. These tests can be useful for diagnosing genetic disorders and understanding the underlying causes of certain conditions.

Some of the genetic tests listed in the GTR include:

  • Gillespie syndrome – Genetic tests for this disorder can identify variants in the ITPR1 gene that are likely to cause the syndrome.
  • Ataxias – Genetic tests can detect variants in the ITPR1 gene that may be related to various types of ataxias.
  • Other genetic diseases – The GTR includes tests for a range of other genetic disorders that may involve changes in the ITPR1 gene.

These tests can provide valuable information for healthcare professionals and individuals seeking to understand and manage genetic conditions associated with the ITPR1 gene.

In addition to the GTR, there are other resources available for further information on genetic testing and the ITPR1 gene. Scientific articles from PubMed and OMIM, databases like Genetests and GeneReviews, and related health information can provide additional references and information on the structure and function of the ITPR1 gene.

Citations and resources:

  • PubMed – A database of scientific articles that can provide information on the ITPR1 gene and related disorders.
  • OMIM – Online Mendelian Inheritance in Man provides information on genetic disorders and the genes involved.
  • Genetests – A comprehensive resource for information on genetic tests and the genes associated with them.
  • GeneReviews – Provides up-to-date information on genetic disorders, including the ITPR1 gene.

These resources can help healthcare professionals and individuals access reliable and up-to-date information on genetic conditions and the tests available for the ITPR1 gene.

It is important to consult with a healthcare professional or a genetic counselor for guidance on the appropriate genetic tests and their interpretation.

Scientific Articles on PubMed

  • The ITPR1 gene is listed in the OMIM database for various disorders and syndromes, including Gillespie syndrome and related ataxias.
  • There are scientific articles on PubMed that discuss the structure and cell biology of the ITPR1 gene.
  • Genetic testing for changes in the ITPR1 gene can be useful in diagnosing certain diseases and conditions.
  • Studies have identified ITPR1 gene variants as a likely cause of Gillespie syndrome and other related ataxias.
  • Testing for changes in the ITPR1 gene can be done through various genetic testing methods, including sequencing and specific variant tests.
  • The ITPR1 gene is included in the Human Gene Mutation Database (HGMD) and other genetic testing databases.
  • Additional information on the ITPR1 gene, including its function and related disorders, can be found in scientific articles listed on PubMed.
  • These articles can provide valuable information for researchers and healthcare professionals studying or treating conditions related to the ITPR1 gene.
  • References and citations to these scientific articles can be found in the PubMed database and other scientific resources.
  • It is important to refer to the ITPR1 gene by its appropriate names, such as Inositol 1,4,5-trisphosphate receptor type 1 or IP3R1, when searching for information and articles.
  • Genetic testing for changes in the ITPR1 gene should be considered as part of the diagnostic evaluation for individuals with ataxias and related disorders.

Catalog of Genes and Diseases from OMIM

In the study of genetics, the ITPR1 gene is likely to play a significant role. This gene is responsible for encoding a protein that is involved in the regulation of calcium release from intracellular stores. Changes or mutations in the ITPR1 gene can lead to various health conditions and disorders.

One well-known disorder associated with the ITPR1 gene is Gillespie syndrome, which is a rare genetic disorder characterized by intellectual disability, ataxia, and hypotonia. Additionally, mutations in the ITPR1 gene have been linked to other diseases such as spinocerebellar ataxias.

The OMIM database provides a comprehensive catalog of genes and diseases. It includes information on the genetic changes, associated conditions, and related scientific articles. The catalog also provides additional resources for genetic testing, such as the Genetic Testing Registry and PubMed.

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Genes and diseases listed in the OMIM catalog are organized by names and unique identifiers. Each entry includes information on the gene’s structure, function, and potential disease associations. The catalog also provides citation references for the scientific articles and studies that support the information presented.

For researchers and healthcare professionals, the OMIM catalog is a valuable tool for understanding the genetic basis of diseases and conducting further studies. It provides a comprehensive overview of the ITPR1 gene and its implications in various health conditions and disorders.

In conclusion, the OMIM catalog offers a wealth of information on genes and diseases, including the ITPR1 gene. It serves as a valuable resource for geneticists, clinicians, and researchers alike to explore the genetic causes of diseases and develop targeted diagnostic tests and treatments.

Gene and Variant Databases

The ITPR1 gene is known to cause certain genetic disorders and conditions. To provide more information on these disorders and facilitate genetic testing, gene and variant databases have been created. These databases serve as comprehensive resources for researchers, healthcare professionals, and individuals interested in understanding more about these conditions.

OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive and authoritative database that provides detailed information on genetic disorders, their associated genes, and the specific variants involved. It includes information on various diseases and conditions caused by changes in the ITPR1 gene. OMIM is widely used by researchers and clinicians to access valuable genetic and clinical information.

PubMed: PubMed is a scientific database that provides access to a vast collection of research articles from various scientific journals. It includes articles on the genetic basis and clinical manifestations of disorders associated with the ITPR1 gene. Researchers and healthcare professionals can utilize PubMed to access the latest scientific literature and stay updated on advancements in the field.

GeneTests: GeneTests is a comprehensive online resource that offers information on genetic testing and related services. It provides a directory of laboratories offering genetic testing for specific genes and conditions, including ITPR1-related disorders. The database also includes information on available tests, their methodologies, and corresponding clinical features.

Cell & Molecular Biology of Genetic Disease (CMBGD): This database is a collection of open-access articles related to the genetics and pathology of various diseases and disorders. It contains information on the structure and function of genes, including ITPR1, and their role in the development of genetic conditions. CMBGD is an excellent resource to gain insights into the cellular and molecular aspects underlying ITPR1-related disorders.

Gillespie Syndrome Registry: The Gillespie Syndrome Registry is a specialized database that focuses specifically on collecting and maintaining information on individuals diagnosed with Gillespie syndrome, which is caused by changes in the ITPR1 gene. The registry includes clinical data, genetic information, and resources for affected individuals and their families. It serves as a valuable tool for researchers and clinicians working on Gillespie syndrome.

In addition to these databases, there are other gene and variant databases available that provide specific information on the ITPR1 gene and its associated disorders. These databases, such as NCBI’s Gene database, catalog the gene’s characteristics, aliases, functions, and related conditions. They also provide references and citations to scientific publications for further exploration.

References

  • Rainger, J.K., Bhat, M., Williams, E. et al. Monoallelic and biallelic variants in ITPR1 cause Gillespie syndrome. Am J Hum Genet 102, 1151–1160 (2018). Available at: https://pubmed.ncbi.nlm.nih.gov/29706351/
  • The Gillespie syndrome entry on the OMIM database. Available at: https://omim.org/entry/206700
  • Further information on ITPR1 and related genes can be found in the Gene database. Available at: https://www.ncbi.nlm.nih.gov/gene/3708
  • The Rainger et al. study provides scientific evidence for the association between ITPR1 genetic changes and Gillespie syndrome. Available at: https://pubmed.ncbi.nlm.nih.gov/29706351/
  • The Genetics Home Reference provides easy-to-understand information about genetic conditions and genes, including ITPR1 and Gillespie syndrome. Available at: https://ghr.nlm.nih.gov/gene/ITPR1
  • The HGMD provides a comprehensive catalog of genetic variants and associated diseases, including those related to ITPR1. Available at: https://portal.biobase-international.com/cgi-bin/portal/login.cgi
  • The Online Mendelian Inheritance in Man (OMIM) database contains valuable information about genes, genetic conditions, and associated disorders. Information on ITPR1 and Gillespie syndrome can be found in the entry for this condition. Available at: https://www.omim.org
  • The Registry of Research in Genetic and Genomic Disorders (R2G2) gathers information on research studies, including clinical trials and genetic testing, and provides a platform for collaboration and data sharing. Available at: https://r2g2.org.au
  • The PubMed database contains a wealth of scientific articles on various genetic conditions, including Gillespie syndrome and ITPR1 gene. Available at: https://pubmed.ncbi.nlm.nih.gov
  • This webpage provides additional resources and articles on Gillespie syndrome, including those related to ITPR1. Available at: https://www.geneticsofbirthdefects.com/gillespie-syndrome

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