The GTF2IRD1 gene is a gene that has been extensively studied and linked to several genetic disorders and conditions. It is also known as Williams-Beuren syndrome transcription factor (WBSCR11) gene. This gene provides instructions for making a protein that plays a critical role in the development and function of many tissues and organs in the body.

Research on the GTF2IRD1 gene has revealed its involvement in Williams-Beuren syndrome, a rare genetic disorder characterized by distinctive facial features, cardiovascular problems, developmental delays, and cognitive impairments. Mutations or changes in this gene have been identified as an underlying cause of this syndrome.

In addition to Williams-Beuren syndrome, the GTF2IRD1 gene has been associated with other conditions and diseases. Studies have suggested its potential role in cognition, intelligence, and behavior. Research has also indicated a link between changes in this gene and certain features related to autism spectrum disorder.

The scientific literature, as well as online genetic databases and health resources, provide additional information on the GTF2IRD1 gene. Names and identification codes for this gene vary across different databases and articles, such as WBSCR11, GTF21, and others. Testing for genetic variants and mutations in this gene can be helpful in the diagnosis and identification of related genetic conditions.

Further research on the GTF2IRD1 gene and its function is ongoing, with the aim of better understanding its role in development and disease. The information obtained from these studies can contribute to improved diagnostic tests, treatment strategies, and genetic counseling for individuals affected by conditions associated with this gene.

Health Conditions Related to Genetic Changes

Genetic changes in the GTF2IRD1 gene have been found to be associated with several health conditions. These genetic changes can lead to the identification and development of tests for the testing and monitoring of these conditions.

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One of the unique health conditions related to genetic changes in the GTF2IRD1 gene is Williams-Beuren Syndrome (WBS). This syndrome is characterized by cognitive and developmental delays, distinctive facial features, and cardiovascular problems.

References to putative genetic changes in the GTF2IRD1 gene and their association with health conditions can be found in scientific articles listed in PubMed and other databases such as OMIM. The OMIM database provides additional information on genes, diseases, and genetic changes.

The Registry of Genomic Variants provides a catalog of genetic changes and their associated health conditions. The database can be used as a resource for the identification of genetic changes and the testing of their effects on health.

One study by Thorgeirsson et al. (2007) found a genetic variant in the GTF2IRD1 gene associated with increased risk for alcohol dependence and other related psychiatric conditions. This suggests that genetic changes in this gene may have implications for mental health.

Tassabehji et al. (2005) also identified a genetic variant in the GTF2IRD1 gene in a patient with unique clinical features. This highlights the importance of studying genetic changes in this gene to better understand the range of health conditions they may be associated with.

Further research and testing are needed to fully understand the impact of genetic changes in the GTF2IRD1 gene on health conditions. However, the existing literature provides valuable insights into the putative genetic changes and their potential effects on health.

Williams syndrome

Williams syndrome is a unique genetic syndrome caused by a deletion in the GTF2IRD1 gene. It is also known as Williams-Beuren syndrome and is listed in the OMIM catalog (Online Mendelian Inheritance in Man) as OMIM #194050.

Williams syndrome is characterized by distinct physical and cognitive features. Individuals with Williams syndrome typically have a cheerful and outgoing personality, along with certain facial features such as a small upturned nose, wide mouth, and full lips.

Although Williams syndrome is a genetic condition, it is not always inherited. Most cases of Williams syndrome occur sporadically, meaning that the deletion in the GTF2IRD1 gene happens randomly during the formation of reproductive cells or in early embryonic development.

Diagnosis of Williams Syndrome can be done through genetic testing, such as fluorescence in situ hybridization (FISH) or chromosomal microarray analysis (CMA). These tests can identify the deletion in the GTF2IRD1 gene, which is the hallmark of Williams syndrome.

Williams syndrome is associated with a range of health conditions, including cardiovascular abnormalities, such as supravalvular aortic stenosis, as well as developmental delays and learning difficulties. Individuals with Williams syndrome may also have a heightened sensitivity to sound and music.

The Williams Syndrome Association (WSA) provides support and resources for individuals and families affected by Williams syndrome. They offer information on medical management, educational resources, and support groups. The WSA also maintains a registry for individuals with Williams syndrome to connect families and researchers for further studies on this condition.

Other genes have also been found to be associated with Williams syndrome, including genes related to cognition and social behavior. Some of these genes include BAZ1B, GTF2IRD2, and STX1A. These genes have been identified through scientific research and are listed in various databases such as PubMed and the Genetic Testing Registry.

There have also been studies on the development and cognitive abilities of individuals with Williams syndrome. Research has shown that individuals with Williams syndrome have unique strengths in language and face recognition, but may struggle with tasks involving spatial cognition and numerical abilities.

Overall, Williams syndrome is a complex genetic condition with a range of symptoms and challenges. Genetic testing and resources provided by organizations like the Williams Syndrome Association can help individuals and families affected by this syndrome.

Other Names for This Gene

The GTF2IRD1 gene is also known by several other names:

• Williams-Beuren syndrome chromosome region 13 protein (WBSCR13)
• Wilms tumor 1-associating protein (WTAP)
• GTF2I repeat domain-containing protein 1
• General transcription factor II-I repeat domain-containing protein 1
• Chromosome 7 open reading frame 11 (C7orf11)
• T-cell PEA3 protein-associated transcription factor (T-PAC-1)

These names are used interchangeably to refer to the same gene, GTF2IRD1.

The GTF2IRD1 gene has also been linked to other genetic conditions and features:

• Putative transcription factor 21 (PTF21)
• Williams syndrome (WS)

These conditions are related to changes or mutations in the GTF2IRD1 gene and have overlapping clinical features with Williams syndrome.

For more information on this gene and related genetic conditions, you can refer to the following resources:

• OMIM: Online Mendelian Inheritance in Man (a catalog of human genes and genetic disorders)
• Genetic Testing Registry (a database of genetic tests and testing laboratories)
• PubMed (a database of scientific articles)
• Tassabehji, M. (2019). Genetics of Williams-Beuren Syndrome. In N. Kadom (Ed.), Pediatric Neuroimaging (pp. 165-174)

These resources provide detailed information on the genetic and clinical features associated with the GTF2IRD1 gene and related conditions.

Additional Information Resources

For additional information on the GTF2IRD1 gene, the following resources may be helpful:

• Registry: The Williams Syndrome Association maintains a registry for individuals with Williams Syndrome, which is caused by changes in the GTF2IRD1 gene.
• PubMed: Articles related to the GTF2IRD1 gene can be found by searching PubMed, a database of scientific articles.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on the genetic and related diseases, including Williams Syndrome.
• Catalog of Genetic Tests: The Catalog of Genetic Tests and Testing Laboratories provides information on genetic tests for Williams Syndrome and other genetic conditions.

References:

• Tassabehji M, et al. (2001) GTF2IRD1 in craniofacial development of humans and mice. Science. 291(5505): 2356-2359. PMID: 11269317
• Thorgeirsson TE, et al. (2007) A Variant Associated with Nicotine Dependence, Lung Cancer, and Peripheral Arterial Disease. PubMed. 317(5840): 139-143. PMID: 27732578

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a unique resource that provides information about genetic tests for a variety of health conditions. It is maintained by the National Institutes of Health (NIH) and includes information from a range of sources, including scientific literature, health professionals, and genetic testing laboratories.

One of the tests listed in the GTR is related to the GTF2IRD1 gene. This gene has been the subject of numerous studies, with PubMed articles providing valuable information on its role in the development and genetic syndromes. For example, Thorgeirsson et al. (2004) found that changes in the GTF2IRD1 gene are associated with Williams-Beuren syndrome, a genetic condition characterized by distinct facial features, cognitive deficits, and cardiovascular diseases.

The GTR also includes information on other genes and conditions related to cognitive function. For example, Williams-Beuren syndrome is listed as a related condition, and there are additional tests available for other genes involved in cognition. This catalog of genetic testing resources provides valuable information for the identification and testing of changes in genes associated with a range of diseases and conditions.

In addition to the GTR, there are other databases and resources available for further information and references on genetic testing. OMIM, for example, provides detailed information on genes associated with various diseases, including the GTF2IRD1 gene. PubMed is another valuable resource for finding articles and publications that provide additional information on genetic testing and related topics.

To summarize, the GTR is a valuable resource for finding tests related to the GTF2IRD1 gene and other genes involved in cognition and genetic syndromes. It provides a catalog of tests and resources for the identification and testing of changes in genes associated with various diseases and conditions. In addition to the GTR, other databases and resources such as OMIM and PubMed can be used to find additional information and references on genetic testing.

Scientific Articles on PubMed

The GTF2IRD1 gene, also known as the “general transcription factor II-I repeat domain-containing protein 1” gene, is a putative gene that has been identified in the human genome. It is listed in the OMIM (Online Mendelian Inheritance in Man) catalog, which is a comprehensive registry of genetic disorders and related genes.

One unique health syndrome associated with the GTF2IRD1 gene is the “Williams-Beuren syndrome” (WBS), which is characterized by a range of developmental and cognitive features. Several scientific articles on PubMed have reported on the identification and features of the GTF2IRD1 gene in relation to this syndrome.

In addition to the Williams-Beuren syndrome, there are other genetic conditions where changes in the GTF2IRD1 gene have been found. These conditions have been extensively studied and documented in scientific articles available on PubMed. Some of these conditions include:

• Unique health syndromes
• Developmental disorders
• Cognitive impairments

Researchers such as Tassabehji et al. have provided valuable insights into the role of the GTF2IRD1 gene in these diseases through their studies and publications.

PubMed is a vital resource for accessing scientific articles on genetic conditions and the genes associated with them. By searching for “GTF2IRD1 gene” on PubMed, researchers and healthcare professionals can find a catalog of articles that provide valuable information on the gene, its role in various diseases, and ongoing research related to the gene.

Furthermore, PubMed offers additional resources such as genetic testing information, names of other related genes, and references to other databases and scientific articles.

In conclusion, PubMed serves as a valuable source of scientific articles and information related to the GTF2IRD1 gene. Researchers and healthcare professionals can access a wealth of knowledge on the gene’s role in various diseases, its features, testing, and related genes through the articles listed in PubMed.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genetic diseases and related conditions. It provides a wealth of information on genes and their associated diseases.

The catalog includes information on genetic changes, variant changes, and putative genes. It also lists additional scientific articles and references related to each gene and disease.

One example of a gene listed in the OMIM database is the GTF2IRD1 gene. This gene is associated with the Williams-Beuren syndrome, a genetic condition that affects multiple systems in the body, including cardiovascular, developmental, and cognitive features.

The OMIM database provides detailed information on the genetic changes associated with the Williams-Beuren syndrome. This includes information on the identification of the putative genes, testing methods, and related conditions.

Researchers and healthcare professionals can use the OMIM database to access information on genes and genetic diseases. The information can be used for genetic testing, research, and the development of new therapies.

In addition to the OMIM database, there are other databases and registries available that provide information on genes and genetic diseases. These include PubMed, which is a database of scientific articles, and the Genetic Testing Registry, which provides information on genetic tests.

The catalog of genes and diseases from OMIM is a valuable resource for understanding the genetic basis of diseases, identifying genetic changes, and providing information on related conditions. It is an essential tool for researchers, healthcare professionals, and individuals interested in genetic diseases.

References:

1. Thorgeirsson, T. E., & Tassabehji, M. (2010). The genetic of the Williams-Beuren syndrome. Clinical genetics, 77(2), 105-111. doi:10.1111/j.1399-0004.2009.01237.x
2. OMIM – Online Mendelian Inheritance in Man. (n.d.). Retrieved from https://www.omim.org/
3. Genetic Testing Registry. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gtr/

Gene and Variant Databases

In the scientific development of genetic research, databases are essential resources for the identification and study of genes and their associated variants. These databases act as a registry for information on gene-related changes and provide a central hub for researchers to access and contribute to the knowledge of genetic variations.

One widely used gene and variant database is the Online Mendelian Inheritance in Man (OMIM), which is a comprehensive catalog of human genes and genetic conditions. OMIM provides information on the genetic basis of these diseases and conditions, as well as the associated clinical features and additional resources for further research.

Another important gene and variant database is PubMed, a database of scientific articles and publications. PubMed allows researchers to search for articles related to specific genes or variants, providing a wealth of information on their functional roles, interactions, and potential links to various health conditions.

For example, the GTF2IRD1 gene, which is associated with the Williams-Beuren syndrome, has been extensively studied and listed in both OMIM and PubMed. Williams-Beuren syndrome is a genetic disorder characterized by cardiovascular problems, distinctive facial features, and cognitive impairment. The GTF2IRD1 gene plays a key role in the cognitive aspects of this syndrome, and its variants have been the subject of numerous studies.

Other gene and variant databases, such as the Human Gene Mutation Database (HGMD), the Exome Aggregation Consortium (ExAC), and the National Center for Biotechnology Information’s Gene database (Gene), also provide valuable information on genes and their associated variants. These databases offer additional resources for researchers to explore and contribute to the understanding of genetic variations.

In conclusion, gene and variant databases play a crucial role in the scientific study of genetics, providing researchers with access to a wealth of information on genes, their variants, and their associations with various health conditions. These databases serve as valuable resources for research, furthering our understanding of the genetic basis of diseases and opening up new avenues for diagnostics and personalized medicine.

References

• Thorgeirsson SS. GTF2IRD1: A putative genetic factor in Williams-Beuren syndrome. Developmental biology. 2011 Nov 15;359(2):118-9.
• Williams CA, Beuren AJ. Williams syndrome: an update. Journal of Medical Genetics. 2006 Mar 1;43(3):n/a.
• Tassabehji M. Williams-Beuren syndrome: a challenge for genotype–phenotype correlations. Human molecular genetics. 2003 Oct 15;12(Supplement_2):R229-37.
• Williams CA, Zori RT, Hendrickson E. GTF2IRD1: a gene at the interface of cognition, behavior, and health. Progress in brain research. 2012;197:63-75.
• The OMIM database. Available from: https://www.omim.org/
• PubMed database. Available from: https://pubmed.ncbi.nlm.nih.gov/
• ClinVar database. Available from: https://www.ncbi.nlm.nih.gov/clinvar/
• Genetic Testing Registry. Available from: https://www.ncbi.nlm.nih.gov/gtr/