The PHF21A gene, also known as PHD finger protein 21A, is a human gene that is listed in various genetic databases such as OMIM, Genetests, and the Human Gene Mutation Database. It is located within a region of chromosome 11.
This gene codes for a protein that has a PHD finger domain. The PHD finger domain is a common motif found in many proteins that is known to interact with histones and other proteins involved in epigenetic regulation.
Scientific articles and references related to the PHF21A gene can be found in PubMed, a comprehensive database of scientific publications. Additional information on this gene can also be found in resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, which provides information on genes and genetic conditions.
Testing for changes or variants in the PHF21A gene can be done through genetic testing labs and services. Genetic tests can provide important information about the health and risk of certain conditions or diseases. One notable condition associated with the PHF21A gene is Potocki-Shaffer syndrome, a rare genetic disorder.
Overall, the PHF21A gene and its protein product play a role in epigenetic regulation and have been linked to various health conditions. The study of this gene and its variants continues to be an active area of research in the scientific community.
Health Conditions Related to Genetic Changes
Genetic changes within the PHF21A gene have been found to be related to various health conditions. These genetic changes can be inherited from parents or occur spontaneously.
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- Potocki-Shaffer Syndrome: A condition caused by a deletion of genetic material in the 11p11.2 region, which includes the PHF21A gene. This syndrome is characterized by intellectual disabilities, developmental delays, and other clinical features.
- Other Diseases: Genetic changes in the PHF21A gene may also be associated with other diseases or conditions, although more research is needed to fully understand these connections.
Researchers and healthcare professionals can access additional information on these health conditions through various resources:
- PubMed: A database of scientific articles that provides information on the latest research studies, including those related to the PHF21A gene and its associated health conditions.
- OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the genetic changes, clinical features, and inheritance patterns associated with various disorders.
- Genetic Testing Databases: There are several genetic testing databases that include information on genetic changes in the PHF21A gene and their association with health conditions. These databases can be used by healthcare professionals to interpret genetic test results and provide accurate diagnoses.
- Registries and Patient Resources: Registries and patient resources specific to certain health conditions, such as Potocki-Shaffer Syndrome, provide valuable information and support for individuals and families affected by these conditions.
It is important for healthcare providers to stay updated on the latest research and resources related to genetic changes in the PHF21A gene and their impact on health. This knowledge can help guide diagnostic testing and appropriate management strategies for individuals with these genetic changes.
Potocki-Shaffer syndrome
Potocki-Shaffer syndrome is a genetic condition that is characterized by changes in the PHF21A gene. This gene is located in a region of the genome called the 6p21.3 deletion region, and it plays a role in the regulation of other genes. The PHF21A gene is involved in the modification of histones, which are proteins that help package DNA. Changes in this gene can lead to a demethylated region of the genome, which can affect the expression of nearby genes.
Potocki-Shaffer syndrome is related to other conditions that are caused by changes in the 6p21.3 deletion region. These conditions include diseases such as 6p21 microdeletion syndrome and 6p21.3 microdeletion syndrome. The specific genetic changes in the PHF21A gene that are associated with Potocki-Shaffer syndrome can vary among affected individuals.
Diagnosis of Potocki-Shaffer syndrome can be confirmed through genetic testing. A genetic test can determine if there are changes in the PHF21A gene that are associated with the syndrome. This testing can also help differentiate Potocki-Shaffer syndrome from other conditions with similar features.
Additional information on Potocki-Shaffer syndrome can be found in scientific articles and resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and other genetic databases. These resources provide references to published articles, as well as information on genes, variants, and tests associated with the syndrome.
The Potocki-Shaffer syndrome Registry is an additional resource that collects and maintains information on individuals with the syndrome. This registry can be a valuable source of information for individuals and families affected by Potocki-Shaffer syndrome.
Other Names for This Gene
The PHF21A gene is also known by several other names, including:
- potocki-shaffer syndrome
- potocki shaffer syndrome
- phf21 gene
- putative phd finger protein 21a
These additional names for the PHF21A gene can be found within scientific literature, databases, and health resources. It is important to note that the listed names may refer to different aspects of the gene, such as specific protein variants or changes in the gene region.
| Variant | OMIM | Genetic Testing Registry | PubMed Articles | Other Resources |
|---|---|---|---|---|
| PHF21A gene | Yes | Yes | Yes | – |
| Demethylated PHF21A protein | – | – | Yes | – |
These names can be further explored through additional research and references provided in scientific articles and databases. The PHF21A gene is related to various diseases and conditions, including Potocki-Shaffer syndrome. Testing for changes or variants in this gene can be done through genetic testing and can provide important information for diagnosis and treatment.
Additional Information Resources
A variety of resources are available to find additional information about the PHF21A gene and related conditions:
- PubMed: A database of scientific articles that provides access to information on the PHF21A gene, demethylated changes, and related genes and conditions. Available at pubmed.
- Genetic Testing Registry: A database that provides information about genetic tests for the PHF21A gene and related conditions. Available at Genetic Testing Registry.
- OMIM: A database that provides information on the PHF21A gene, related genes, and associated conditions. Available at OMIM.
- Health-Related Databases: Various health-related databases may contain information on the PHF21A gene and related conditions. It is recommended to search within databases such as Genet, Genet, and others.
Tests Listed in the Genetic Testing Registry
The PHF21A gene is associated with various genetic conditions and syndromes, including Potocki-Shaffer syndrome. The genetic testing registry provides a catalog of tests related to this gene, along with information about changes and variants in the gene.
Genetic testing is an important health tool that can help identify individuals who may be at risk for certain conditions. The registry lists tests that can detect changes or variants in the PHF21A gene, which is involved in the Potocki-Shaffer syndrome and other related conditions.
Within the registry, there are multiple resources available that provide additional information about the PHF21A gene and related testing. These resources include scientific articles from PubMed, references from OMIM (Online Mendelian Inheritance in Man), and databases that contain information on genetic conditions and genes.
The genetic testing registry categorizes these tests based on the specific gene or gene region they target. For the PHF21A gene, the registry lists tests that identify changes or variants within the gene, as well as tests that demethylated histones associated with the gene.
Some of the tests listed in the registry include:
- Targeted sequencing of the PHF21A gene
- Whole exome sequencing to identify variants in the PHF21A gene
- Testing for demethylated histones associated with the PHF21A gene
It is important to note that this is not an exhaustive list, and there may be additional testing options available for the PHF21A gene.
By providing a centralized catalog of tests related to the PHF21A gene, the genetic testing registry aims to facilitate access to information and resources for individuals and healthcare professionals involved in genetic testing.
Scientific Articles on PubMed
PubMed is a valuable resource for finding scientific articles related to the PHF21A gene. Researchers can find articles on various topics such as genetic conditions, diseases, and genes.
Additional information on the PHF21A gene can be found on PubMed. This gene is associated with the Potocki-Shaffer syndrome, a genetic condition characterized by intellectual disability, speech delays, and distinct facial features.
In PubMed, there are articles that discuss the function and role of the PHF21A gene. Some studies focus on how changes or variants within this gene can lead to the development of Potocki-Shaffer syndrome. Researchers have also examined how changes in this gene can affect protein function and histone demethylated status.
PubMed provides a catalog of scientific articles that can be useful for researchers, healthcare professionals, and individuals interested in learning more about the PHF21A gene. It is important to note that PubMed does not offer genetic testing services but serves as a database of scientific articles.
For comprehensive information on genetic conditions, researchers and healthcare professionals can refer to Online Mendelian Inheritance in Man (OMIM). OMIM provides a comprehensive resource on genetic diseases, related genes, and references to scientific articles.
In summary, PubMed is a valuable resource for finding scientific articles related to the PHF21A gene and its association with Potocki-Shaffer syndrome. It provides information on the function of this gene, changes within the gene, and their effects on protein function and histone demethylation. For additional information on genetic conditions, researchers can refer to the OMIM database.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive database that provides information on various genes and the diseases associated with them. It serves as a valuable resource for researchers and healthcare professionals in the field of genetics and genomics.
The database lists genes and their associated diseases, providing detailed information on the genetic changes and variant forms of the genes. It also includes additional information on related syndromes and conditions that may be caused by mutations in the gene.
Each gene and disease entry in the catalog provides references to scientific articles, PubMed IDs, and other resources for further reading and information. The database also lists genetic tests that can be used to detect changes in the gene and diagnose related diseases.
The OMIM catalog serves as a registry for genetic diseases and is constantly updated with new information from scientific publications and databases. It provides a centralized source of information for researchers and healthcare professionals working on specific genes and diseases.
In the case of the PHF21A gene, the catalog provides information on its role in health and disease. It lists the associated diseases such as the Potocki-Shaffer syndrome and provides references to articles and resources for further information on the gene and related conditions.
The catalog also provides information on the protein encoded by the PHF21A gene and its function. It includes data on the histones and their demethylated state, which are relevant to the gene’s role in gene expression and regulation.
In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers and healthcare professionals looking for information on specific genes and the diseases associated with them. It provides a comprehensive collection of genetic information, scientific references, and testing resources to aid in the understanding and diagnosis of genetic diseases.
Gene and Variant Databases
Genes are units of heredity that carry instructions for the production of proteins and play a vital role in the functioning of our cells. The PHF21A gene is one such gene that has been extensively studied in the field of genetics.
To organize and provide access to vast amounts of genetic information, various databases have been developed. These databases serve as valuable resources for researchers, clinicians, and patients alike. They contain information about genes, their variants, and their association with different health conditions.
Within these databases, genetic testing and variant analysis are performed to identify changes in genes and their impact on protein structure and function. This information is crucial for understanding the underlying causes of diseases and developing targeted treatments.
Some of the well-known gene and variant databases include but are not limited to:
- OMIM: Online Mendelian Inheritance in Man, a comprehensive catalog of human genes and genetic diseases.
- Genetests: A resource for comprehensive genetic testing information, including lists of available tests for specific genes and conditions.
- Genetic Testing Registry (GTR): A publicly accessible database that provides information on genetic tests and their purpose, methodology, and clinical validity.
- PubMed: A vast database of scientific articles, encompassing research on various aspects of genes, including their function, variants, and association with diseases.
These databases provide references to articles on the PHF21A gene and its related variants found in scientific publications. Researchers can access these references to gather additional information and stay updated with the latest findings.
In relation to the PHF21A gene, one specific health condition worth mentioning is the Potocki-Shaffer syndrome. This syndrome is caused by a deletion on chromosome 11 that encompasses the PHF21A gene. The gene’s association with this syndrome has been extensively studied and documented.
In summary, gene and variant databases play a pivotal role in consolidating and disseminating crucial genetic information. They provide researchers, clinicians, and patients with a wealth of resources to access information on genes, variants, related diseases, and testing methods.
References
- Potocki-Shaffer Syndrome – Genetics Home Reference. U.S. National Library of Medicine, National Institutes of Health. Available at: https://ghr.nlm.nih.gov/condition/potocki-shaffer-syndrome. Accessed February 25, 2022.
- PHF21A gene – Genetics Home Reference. U.S. National Library of Medicine, National Institutes of Health. Available at: https://ghr.nlm.nih.gov/gene/PHF21A. Accessed February 25, 2022.
- OMIM Entry – #616263 – POTOCKI-SCHAFFER SYNDROME; PSS. Available at: https://www.omim.org/entry/616263. Accessed February 25, 2022.
- Phelan-McDermid Syndrome Foundation. Available at: http://www.pmsf.org/. Accessed February 25, 2022.
- The Human Gene Mutation Database (HGMD). Available at: http://www.hgmd.cf.ac.uk/. Accessed February 25, 2022.
- Online Mendelian Inheritance in Man (OMIM). Available at: https://www.omim.org/. Accessed February 25, 2022.
- PubMed. Available at: https://pubmed.ncbi.nlm.nih.gov/. Accessed February 25, 2022.