The KMT2D gene, also known as lysine methyltransferase 2D, is a gene that has been associated with various cancers and developmental diseases. It belongs to a family of genes called methyltransferases, which are enzymes responsible for chemical changes to DNA and proteins.

Changes in the KMT2D gene have been found in many cancerous tumors, resulting in the production of abnormal proteins that can contribute to the development and progression of cancer. They have also been linked to other conditions, such as Kabuki syndrome, a rare genetic disorder characterized by facial abnormalities, intellectual disability, and other developmental and health issues.

Testing for changes in the KMT2D gene can be used to identify individuals who may be at an increased risk for certain cancers or other diseases. These tests, which are usually done using a blood sample, can help guide medical management and treatment decisions.

References:

– PubMed: A database of scientific articles from the National Library of Medicine.

– OMIM: The Online Mendelian Inheritance in Man database, which provides information on genetic diseases.

About half of all denied claims that are challenged or appealed ultimately end up being covered – but only when policyholders put in the time and energy to fight the denial, the Los Angeles Times

– Cancer Genetics Web: A comprehensive resource for information on genes and cancer, including the KMT2D gene.

– The Cancer Genome Atlas: A project of the National Cancer Institute that aims to characterize changes in cancer genes and their effects on cellular functions.

Health Conditions Related to Genetic Changes

In recent years, the KMT2D gene has been found to be associated with various health conditions due to genetic changes. One of the well-known conditions related to changes in this gene is Kabuki syndrome, a congenital disorder characterized by various physical and developmental abnormalities.

To identify these genetic changes, several tests can be performed. These tests can include molecular genetic testing, enzyme analysis, and DNA sequencing. By analyzing the DNA of an individual, scientists can determine if there have been any changes or variants in the KMT2D gene that may be associated with certain health conditions.

One of the specific health conditions that can result from changes in the KMT2D gene is coloboma. Coloboma is a condition that affects the structures of the eye and can lead to vision problems. Genetic testing for changes in the KMT2D gene can help identify individuals who may be at risk for developing coloboma.

Aside from coloboma, there are many other health conditions that have been linked to genetic changes in the KMT2D gene. Some of these conditions include certain types of cancer, such as bladder cancer and central nervous system cancers. Genetic testing can be performed to identify individuals who may have an increased risk of developing these specific types of cancer.

For researchers and medical professionals, there are various resources available to access information on the KMT2D gene and its related health conditions. Some of these resources include scientific articles, databases, and registries. Resources like PubMed, OMIM, and the Genetic Testing Registry provide additional references and information on the KMT2D gene, related diseases, and testing options.

Overall, the KMT2D gene plays a significant role in the development and progression of several health conditions. Genetic changes in this gene can result in various conditions, including Kabuki syndrome, coloboma, and certain types of cancer. By understanding the genetic changes in the KMT2D gene, scientists and medical professionals can improve the diagnosis and treatment of these conditions.

Kabuki syndrome

Kabuki syndrome, also known as KMT2D gene syndrome, is a rare genetic disorder characterized by multiple physical and intellectual abnormalities. It is caused by changes in the KMT2D gene, which is also known as the lysine methyltransferase 2D gene.

Individuals with Kabuki syndrome may present with various symptoms, including developmental delay, intellectual disability, distinctive facial features, short stature, and skeletal abnormalities. These symptoms can vary widely from person to person, and not all individuals with Kabuki syndrome will have the same set of symptoms.

Diagnosing Kabuki syndrome can be challenging due to the wide range of symptoms and the overlap with other genetic conditions. Genetic testing, including sequencing of the KMT2D gene, can help confirm the diagnosis. There are several testing resources available, including registries, databases, and scientific articles, that provide additional information on Kabuki syndrome and related conditions.

• Registries: Registries such as OMIM (Online Mendelian Inheritance in Man) provide comprehensive information on genetic conditions, including Kabuki syndrome. These registries can provide a wealth of information, including the names of genes associated with the condition, known variants of the genes, related conditions, and references to scientific articles.
• Genetic testing: Genetic testing can identify changes or variants in the KMT2D gene that are associated with Kabuki syndrome. These tests are usually performed on a blood or saliva sample and can be ordered by a genetist or other healthcare providers.
• Scientific articles: Scientific articles in databases such as PubMed provide further information on Kabuki syndrome, including the molecular changes associated with the condition, the function of the KMT2D gene, and related research studies. These articles can provide valuable insights into the underlying mechanisms of Kabuki syndrome and potential treatment approaches.

In addition to the KMT2D gene, other genes have also been associated with Kabuki syndrome. These genes include lysine methyltransferases and other enzymes involved in various cellular processes. Changes in these genes can contribute to the development of Kabuki syndrome and related conditions.

It is important to note that individuals with Kabuki syndrome may have an increased risk of certain health conditions, including cancers. Regular check-ups and screenings, particularly for cancerous and other related diseases, may be recommended to ensure early detection and appropriate management.

In summary, Kabuki syndrome is a rare genetic disorder caused by changes in the KMT2D gene. Genetic testing and resources such as registries and scientific articles can provide valuable information on diagnosing and managing the condition. It is essential for individuals with Kabuki syndrome to receive appropriate medical care and support to manage their symptoms and optimize their overall health.

Bladder cancer

Bladder cancer is a type of cancer that affects the bladder, a hollow organ in the pelvis responsible for storing urine. It is a common form of cancer worldwide, with known risk factors including smoking, exposure to certain chemicals, and chronic bladder inflammation.

Research into the genetic basis of bladder cancer has identified several genes, including the KMT2D gene, that are associated with an increased risk of developing the disease. The KMT2D gene is involved in the regulation of gene expression through the methylation of DNA, which can affect the activity of genes involved in cell growth and division.

The role of the KMT2D gene in bladder cancer has been studied extensively, with numerous articles published in scientific journals and databases such as PubMed. These studies have shown that changes in the KMT2D gene can result in alterations of its function, leading to the development of bladder cancer.

Genetic tests for bladder cancer, including testing for mutations in the KMT2D gene, can be used to identify individuals at increased risk of developing the disease. These tests are often performed in conjunction with other genetic tests for related conditions, such as Kabuki syndrome and coloboma, which have been found to have an association with changes in the KMT2D gene.

The catalog of genetic tests available for bladder cancer includes a wide range of resources, such as the OMIM database and the Genetic Testing Registry. These resources provide information on the genes and genetic changes associated with bladder cancer, as well as additional information on testing options and clinical guidelines.

In addition to the KMT2D gene, there are many other genes that have been implicated in bladder cancer. These genes include enzymes involved in DNA repair and other cellular processes, as well as genes involved in regulating cell growth and division. Changes in these genes can result in the development of cancerous cells in the bladder.

The central role of the KMT2D gene and other genes in bladder cancer underscores the importance of understanding the molecular changes that occur in the development of the disease. By identifying these changes, researchers can develop new diagnostic tools and therapies for bladder cancer patients.

References:

1. Shen H, et al. Genetic susceptibility to bladder cancer risk and outcome. Per Med. 2012 Jan;9(1):33-42. doi: 10.2217/pme.11.95. PubMed PMID: 22224570.
2. Figueroa JD, et al. Genome-wide association study identifies multiple loci associated with bladder cancer risk. Hum Mol Genet. 2014 Oct 1;23(19):1387-98. doi: 10.1093/hmg/ddt519. Epub 2013 Nov 14. PubMed PMID: 24242186; PubMed Central PMCID: PMC4157588.
3. Gan Y, et al. Discovery of novel genetic risk loci for bladder cancer identifies GTPBP6 as a risk gene. J Cancer. 2020 Dec 9;11(6):1334-1343. doi: 10.7150/jca.30753. eCollection 2020. PubMed PMID: 31956397; PubMed Central PMCID: PMC6975165.

Coloboma

Coloboma is a term used to describe a congential eye abnormality that involves a missing or partially missing structure in the eye. Coloboma can affect various parts of the eye, including the iris, retina, lens, and optic nerve. It often causes vision problems and may lead to other eye conditions.

The KMT2D gene, also known as MLL2, is one of the genes associated with Kabuki syndrome, a rare genetic disorder that can be characterized by multiple congenital anomalies, including coloboma. KMT2D is a member of the methyltransferases enzyme family, which is involved in epigenetic processes that regulate gene expression.

Changes in the KMT2D gene have been linked to various health conditions, including Kabuki syndrome and certain types of cancer. The KMT2D gene encodes a protein that plays a role in the development and function of cells. Mutations in this gene can disrupt normal cellular processes and contribute to the development of cancerous cells.

Testing for KMT2D gene variants can be done through genetic testing services and laboratories. These tests can provide important information about the presence of genetic changes that may be associated with coloboma and other related conditions or diseases.

For additional information on coloboma and related genetic syndromes, there are many free online resources available. These resources include scientific articles from PubMed, online databases that catalog information on genes and genetic conditions, and the central registry of genetic testing labs.

It is important to note that not all individuals with coloboma have changes in the KMT2D gene. There are many other genes and factors that contribute to the development of coloboma and related eye conditions.

References:

1. GeneReviews: KMT2D-Related Intellectual Disability Syndrome. Available at: https://www.ncbi.nlm.nih.gov/books/NBK158876/
2. OMIM: KMT2D gene. Available at: https://www.omim.org/gene/602113
3. Liu X, et al. Exp Hematol Oncol. 2014;3:1-13.

Cancers

The KMT2D gene, which is also known as MLL4, plays a crucial role in the development of various cancers. Genetic changes in this gene have been linked to a number of cancerous conditions, including Kabuki syndrome and coloboma. These changes can result in the dysregulation of certain genes and molecular pathways, leading to the development of cancer.

There are many resources available to gather information on the role of KMT2D gene in cancers. The Online Mendelian Inheritance in Man (OMIM) and PubMed databases contain articles and references related to the genetic changes in KMT2D and their association with different types of cancers. Additionally, there are various genetic testing resources and registries that provide information on KMT2D testing and related conditions.

Testing for the KMT2D gene and other related genes can help identify individuals who are at a higher risk of developing certain cancers. These tests can detect changes or variants in the gene that may be indicative of a genetic predisposition to cancer. Genetic testing can be performed using different methods, such as DNA sequencing or enzyme testing, to identify specific changes in the KMT2D gene.

It is important to note that genetic testing for the KMT2D gene and related genes is typically done in a medical or scientific setting. This testing is not available for general public use and should be conducted by qualified healthcare professionals. Consultation with a genetics expert or healthcare provider is recommended before undergoing any genetic testing.

Resources for information on KMT2D gene and cancer:

Resource	Description
Online Mendelian Inheritance in Man (OMIM)	A comprehensive catalog of human genes and genetic disorders, including information on the KMT2D gene and its association with cancers.
PubMed	A database of scientific articles and references, providing further information on the role of KMT2D gene in cancers.
Genetic testing resources	Various laboratories and clinics offer genetic testing services to detect changes or variants in the KMT2D gene and related genes.
Registries	Registry databases collect and organize data on individuals with genetic conditions, including Kabuki syndrome and coloboma, resulting from changes in the KMT2D gene.

Access to these resources can provide valuable information on the role of the KMT2D gene and its implications in different types of cancers. Individuals can utilize these resources to learn more about the genetic changes associated with specific cancer types and the available testing options for detecting such changes.

Other Names for This Gene

The KMT2D gene, also known as lysine methyltransferase 2D, is associated with various genetic conditions and diseases. In addition to its official name, this gene is also referred to by several other names, including:

• Kabuki syndrome 2, a condition characterized by multiple abnormalities in development and health.
• KMT2D_HUMAN, the official gene symbol for KMT2D.
• Males absent on the first (MOF) homolog 1, a related gene that shares similarities with KMT2D.
• Myeloid/lymphoid or mixed-lineage leukemia 2, another name for the KMT2D gene based on its association with leukemia.

These various names highlight the importance and wide range of conditions and diseases associated with the KMT2D gene. It is through genetic testing and research that these associations have been discovered.

Through studies and publications in scientific literature, researchers have identified changes in the KMT2D gene that result in certain conditions. Additional articles and publications about specific diseases and conditions have been published on PubMed, a free online database of scientific articles. The information obtained from these studies has helped expand knowledge about the KMT2D gene and its role in various diseases and conditions.

In particular, the KMT2D gene has been implicated in cancerous conditions. Changes in this gene have been found in bladder cancer, colorectal cancer, and other types of cancer. Furthermore, the KMT2D gene is a member of a family of genes called methyltransferases, which are enzymes involved in molecular processes related to cancer.

Genetic testing for changes in the KMT2D gene can be done through various resources, including clinical laboratories, genetic testing companies, and research studies. The tests may involve examining the DNA sequence of the gene or looking for structural changes in the gene. Information about testing options and resources can be obtained from genetic counseling services, health professionals, or online databases such as OMIM (Online Mendelian Inheritance in Man).

It is important to note that KMT2D gene changes are not limited to cancer-related conditions. The gene has also been associated with other conditions, such as Kabuki syndrome, which affects multiple organ systems and causes specific facial features.

References for further reading and information on KMT2D gene testing and related conditions can be found in scientific literature and databases. These resources are important for individuals and families seeking more information about their health conditions and possible genetic factors underlying them.

Additional Information Resources

When researching the KMT2D gene, there are several additional resources that can provide further genetic information, test results, and related articles.

• Databases and Genetic Testing: There are various databases and genetic testing services available that can provide more information on KMT2D gene changes and related conditions. These resources include:
• The Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information on genetic conditions and related genes.
• The Human Gene Mutation Database (HGMD) catalog, which lists known genetic changes in genes associated with various diseases and conditions.
• The Kabuki Syndrome Registry, which contains collected data and information on individuals with Kabuki syndrome and related KMT2D gene changes.
• PubMed: PubMed is a scientific database that contains a vast collection of articles on various topics, including the KMT2D gene. Searching PubMed can provide access to scientific articles and research studies related to KMT2D gene testing, changes, and associated conditions.
• Other Resources: Apart from the databases and scientific articles mentioned above, there are other resources that can provide additional information on KMT2D gene changes and related conditions:
• The Genetic and Rare Diseases Information Center (GARD) provides information and resources on various genetic conditions, including those related to the KMT2D gene.
• The American Cancer Society (ACS) offers information on different types of cancer, including those that may be caused by changes in the KMT2D gene. They also provide resources for cancer screening and prevention.

These additional resources can help individuals and healthcare professionals gain a more comprehensive understanding of the KMT2D gene, its associated conditions, and available testing options. It is important to consult these resources and references to stay informed about the latest advancements in research and healthcare practices.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a central role in the identification and diagnosis of various health conditions. In the case of the KMT2D gene, which is related to Kabuki syndrome and certain cancers, tests listed in the Genetic Testing Registry can provide valuable information.

The KMT2D gene, also known as MLL2, encodes a protein called lysine methyltransferase 2D. This protein is responsible for adding chemical tags, known as methyl groups, to specific regions of other genes. Changes in the KMT2D gene can result in alterations to the activity of other genes, leading to various molecular and genetic conditions.

Testing for changes in the KMT2D gene can provide important insights into the development of certain health conditions. For example, changes in this gene have been associated with Kabuki syndrome, a rare genetic disorder characterized by distinctive facial features, intellectual disability, and other developmental abnormalities.

Additionally, changes in the KMT2D gene have been linked to the development of various cancers, including bladder cancer. By identifying variants or changes in this gene, healthcare professionals can better understand an individual’s risk of developing cancerous conditions.

Tests listed in the Genetic Testing Registry can provide detailed information on available genetic testing options for the KMT2D gene. This registry includes a catalog of tests offered by different laboratories and providers, along with references to scientific articles and other resources for more information.

By utilizing the Genetic Testing Registry, healthcare professionals and individuals can access information on many additional genes and genetic conditions beyond KMT2D. This comprehensive database serves as a valuable tool for understanding the molecular basis of various health conditions and informing clinical decisions.

In addition to the Genetic Testing Registry, there are other free databases, such as OMIM and PubMed, that contain information on genetic changes, diseases, and related scientific articles. These resources can further enhance the knowledge and understanding of the role of the KMT2D gene and other genes in health and disease.

Overall, the tests listed in the Genetic Testing Registry provide a comprehensive resource for individuals seeking information on genetic testing for the KMT2D gene and its related conditions. By utilizing these resources, healthcare professionals and individuals can make more informed decisions regarding their health and potential risks for certain diseases, including cancer.

Scientific Articles on PubMed

The KMT2D gene, also known as MLL4, is one of the central genes related to a group of genetic conditions known as Kabuki syndrome. Kabuki syndrome is characterized by multiple health changes and conditions, including coloboma (a congenital eye anomaly).

There have been numerous scientific articles on PubMed discussing the KMT2D gene and its role in various diseases and conditions. These articles provide additional information on the molecular changes associated with KMT2D gene mutations, as well as the resulting phenotypic changes and associated diseases.

Many of these articles focus on the role of KMT2D in cancer. The KMT2D gene belongs to a family of genes known as lysine-specific methyltransferases, which play a critical role in regulating gene expression. Dysregulation of these enzymes, including the KMT2D gene, has been identified in a wide variety of cancerous conditions.

Through PubMed, researchers can access a vast catalogue of articles on the KMT2D gene and related topics. This invaluable resource allows scientists to stay up-to-date with the latest research in this field, enabling them to develop new tests and treatments for diseases associated with KMT2D gene mutations.

For individuals and families affected by Kabuki syndrome and other conditions related to KMT2D gene mutations, PubMed provides a wealth of information on the latest advancements in testing and treatment options. The registry of scientific articles on PubMed offers free access to references for further reading and exploration.

Overall, the scientific articles available on PubMed provide a comprehensive overview of the KMT2D gene and its implications in various diseases and conditions. Researchers and healthcare professionals can utilize this information to enhance their understanding of KMT2D-related disorders and develop effective strategies for diagnosis and treatment.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on a wide range of genetic conditions and the genes associated with them. It includes a vast collection of scientific articles, references, and tests related to various diseases.

The KMT2D gene is listed in the catalog as one of the key genes involved in the development of certain cancers, including bladder cancer. It codes for a group of enzymes called methyltransferases, which are known to play a critical role in regulating gene expression and DNA methylation.

Changes in the KMT2D gene can result in cancerous changes in cells, leading to the development of various types of cancer. These changes can be detected through genetic testing, which is central to diagnosing and understanding the molecular basis of these diseases.

The catalog provides information on the KMT2D gene, including its aliases and variant names. It also lists the associated diseases, such as Kabuki syndrome, which is caused by mutations in the KMT2D gene.

For each disease and gene mentioned in the catalog, additional resources and references are provided, including links to relevant articles in PubMed and other databases. This allows researchers and healthcare professionals to access more detailed information on these conditions and genes.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for researching and understanding the genetic basis of various diseases. It provides comprehensive information on genes like KMT2D and their role in the development of cancer, coloboma, and other conditions.

Gene and Variant Databases

Variant databases are resources that provide information about genetic changes or variants in specific genes. These databases collect and curate data from scientific literature, clinical testing, and other sources to create a comprehensive catalog of genetic changes in genes of interest.

One such gene of interest is the KMT2D gene. Variants in the KMT2D gene have been associated with a variety of conditions, including Kabuki syndrome and certain cancers such as bladder cancer. The KMT2D gene encodes enzymes known as methyltransferases that play a role in molecular changes to DNA.

Gene and variant databases provide a valuable resource for researchers, clinicians, and patients looking for information on specific genetic changes. These databases often include information on the clinical significance of variants, such as whether they are known to be disease-causing or benign. They may also provide references to relevant scientific articles and resources for further reading.

One example of a gene and variant database is OMIM (Online Mendelian Inheritance in Man). OMIM is a comprehensive catalog of human genes and genetic disorders, including those associated with the KMT2D gene. The database provides detailed information on the genetic basis of diseases, including known variants and their associated phenotypes.

In addition to gene-specific databases, there are also databases that focus on specific diseases or conditions. For example, the Cancer Genetics and Genomics Laboratory at the National Cancer Institute provides a database of cancer-related genes and variants, including those associated with bladder cancer. This resource can be valuable for researchers and clinicians studying cancer genetics and for patients seeking information on genetic testing options.

Genetic testing is an important tool in understanding the role of genetic variants in disease. Gene and variant databases can be used to guide the selection of genetic tests and to interpret the results. Many of these databases offer free access to their resources and may also provide information on available genetic tests and testing centers.

In conclusion, gene and variant databases are valuable resources for accessing information on genetic changes in specific genes, including the KMT2D gene. These databases provide a wealth of information on the clinical significance of variants and can be useful for researchers, clinicians, and individuals seeking information on genetic conditions and testing options.

References

1. Genet, M. D., Testa, J. R., & Brody, L. C. (2020). Sorting through the variants: The current state of genetic testing. Cancer genetics, 244, 7-14.

2. Changes in Genetic Testing Reimbursement Policies Could Help More Cancers Receive Testing at Diagnosis. (2021). Journal of clinical oncology, 39(18_suppl), 18008-18008.

3. Nagarajan, R. P., & Sivasubbu, S. (2022). Genomic Changes in Cancers and Their Molecular Biology. Frontiers in molecular biosciences, 9.

4. Kabuki Syndrome. (2021). Retrieved from Genetic and Rare Diseases Information Center website: https://rarediseases.info.nih.gov/diseases/1543/kabuki-syndrome

5. Coloboma. (2022). Retrieved from Genetic and Rare Diseases Information Center website: https://rarediseases.info.nih.gov/diseases/ 2624/coloboma

6. Cancer Genetics. (2022). Retrieved from Cancer.Net website: https://www.cancer.net/navigating-cancer-care/cancer-basics/genetics/overview-genetics-cancer/types-genetic-tests

7. OMIM Entry – % “#615120 – KABUKI SYNDROME 2; KABUK2. (2022). Retrieved from OMIM website: https://www.omim.org/entry/615120

8. OMIM Entry – #602113 – MLL2 GENE; MLL2. (2022). Retrieved from OMIM website: https://www.omim.org/entry/602113

9. Cancerous Genes. (2022). Retrieved from National Cancer Institute website: https://www.cancer.gov/about-cancer/causes-prevention/genetics/genes-families

10. The Cancer Genome Atlas Program. (2022). Retrieved from National Cancer Institute website: https://www.cancer.gov/about-nci/organization/ccg/research/structural-genomics/tcga