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The SRCAP gene, also known as SNF2-related CREBBP activator protein, is a gene involved in the Floating-Harbor syndrome, a rare genetic condition characterized by delayed speech and language development, learning disabilities, and distinct facial features. The SRCAP gene is located on chromosome 16 and is responsible for encoding a protein that plays a role in chromatin remodeling.

Genetic testing for mutations in the SRCAP gene can confirm a diagnosis of Floating-Harbor syndrome. Several tests are available to detect changes in the SRCAP gene, including DNA sequencing and deletion/duplication analysis. Additional information about these tests can be found in genetic testing registries and databases such as OMIM and PubMed.

Other related genes implicated in chromatin remodeling syndromes, as well as conditions with overlapping features, are also listed on these databases. Health professionals and researchers can find references to scientific articles, clinical trials, and other resources in PubMed and OMIM.

Genetic changes in the SRCAP gene have been associated with several health conditions. These conditions can vary in severity and presentation. Here, we provide resources and information related to these conditions, including scientific articles, databases, and testing options.

Floating-Harbor Syndrome

Floating-Harbor syndrome is a rare genetic disorder characterized by delayed bone age, short stature, facial features including a wide-set eyes and a thin upper lip, and intellectual disability. Changes in the SRCAP gene have been identified as one of the underlying causes of this syndrome.

For additional information on Floating-Harbor syndrome and genetic testing options, the following resources may be helpful:

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  • PubMed: The PubMed database contains scientific articles and references on Floating-Harbor syndrome and related topics. Searching for “Floating-Harbor syndrome SRCAP gene” on PubMed can provide further scientific information.

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. The entry for Floating-Harbor syndrome (OMIM #136140) includes detailed information on clinical features, molecular genetics, testing, and management of the syndrome.

  • Genetic Testing Registry (GTR): GTR provides information on available genetic tests for different conditions. Searching for “Floating-Harbor syndrome” in GTR can provide a list of available tests, laboratories performing the tests, and additional resources.

Other health conditions related to genetic changes in the SRCAP gene may also exist. It is important to consult with healthcare professionals and genetics specialists for the most up-to-date information and resources for specific conditions.

Floating-Harbor syndrome

Floating-Harbor syndrome is a rare genetic condition characterized by delayed bone age, intellectual disability, and distinctive facial features. It is named after the Floating Hospital for Children in Boston and the Harbor Medical Foundation, where it was first described.

The syndrome was first reported in 1973, and since then there have been several cases documented in medical literature. It is estimated to affect less than 1 in 50,000 individuals worldwide.

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Some of the key features of Floating-Harbor syndrome include:

  • Delayed speech and language development
  • Short stature
  • Distinctive facial features, such as a triangular-shaped face, wide-set eyes, a broad and prominent nose, and a thin upper lip
  • Skeletal abnormalities, including delayed bone age, short fingers and toes, and joint hypermobility
  • Mild to moderate intellectual disability

Floating-Harbor syndrome is caused by mutations in the SRCAP gene. This gene provides instructions for making a protein that plays a role in chromatin remodeling, a process that regulates the structure and activity of genes. Mutations in the SRCAP gene impair the normal functioning of the protein, leading to the characteristic features of the syndrome.

Diagnosis of Floating-Harbor syndrome can be confirmed through genetic testing. There are several resources available for this purpose, including the PubMed database, OMIM (Online Mendelian Inheritance in Man), and the Genetic Testing Registry. These databases provide information on various genetic diseases, including Floating-Harbor syndrome, and the related genes and variants involved.

Management of Floating-Harbor syndrome involves addressing the specific symptoms and conditions associated with the syndrome. This may include speech and language therapy, physical therapy, and educational support for individuals with intellectual disability. Regular monitoring and follow-up is also important to ensure early detection and treatment of any additional medical issues.

Additional information and resources on Floating-Harbor syndrome can be found in scientific articles, health references, and other scientific resources. These sources provide valuable insights into the diagnosis, management, and ongoing research on this rare genetic condition.

Other Names for This Gene

  • SNF2-related CREBBP activator protein
  • SNF2-related chromatin remodeler, activated by CREB protein
  • SNF2-related CREBBP activator protein gene
  • BAF complex 230 kDa subunit, ARP8 homolog
  • ARP8 homolog
  • SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5
  • SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5
  • dom-3 homolog (C. elegans)
  • dom-3-like protein
  • floating-harbor syndrome-related gene
  • FLHS

Additional Information Resources

Below is a list of resources that provide additional information on the SRCAP gene and related topics:

  • Online resources:
    • Online Mendelian Inheritance in Man (OMIM) – an online database that provides comprehensive information on genetic diseases and syndromes.
    • PubMed – a database containing scientific articles and publications related to genetics.
    • PubMed Central – a free full-text archive of biomedical and life sciences journal articles.
    • Genetics Home Reference – a consumer-friendly resource that provides information on genetic conditions and related genes.
  • Testing resources:
    • GeneTests – a website that provides information on genetic testing, including labs that offer testing for specific genes and conditions.
  • Other resources:

Please note that the availability and accuracy of information may vary. It is always recommended to consult with a healthcare professional or genetic counselor for personalized guidance and testing recommendations.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database that provides information on genetic tests for various diseases and conditions. It serves as a centralized resource for scientists, healthcare professionals, and the general public to access information on genetic testing.

Tests listed in the GTR are categorized by genes or genetic changes related to specific diseases or conditions. One such gene is the SRCAP gene, which is associated with a rare genetic disease called Floating-Harbor syndrome. This syndrome is characterized by delayed speech and language development, intellectual disability, and distinctive facial features.

The GTR provides a comprehensive list of genetic tests for the SRCAP gene. These tests are conducted to identify changes or mutations in the SRCAP gene that may be causing Floating-Harbor syndrome. The tests listed in the GTR can be used to diagnose this syndrome and provide more information about its genetic basis.

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In addition to the SRCAP gene, the GTR lists genetic tests for other genes and genetic changes associated with various diseases and conditions. These tests can help diagnose and provide insights into the genetic basis of different health conditions.

The GTR also includes articles and scientific references from databases such as PubMed and OMIM. These resources provide valuable information on genetic testing and related research studies. Scientists and healthcare professionals can access these articles to stay updated on the latest advancements in the field of genetic testing.

The tests listed in the GTR are organized in a catalog format, making it easier for users to navigate and find the required information. The catalog includes names of the tests, information on the genes or genetic changes targeted by the tests, and additional information on the diseases or conditions associated with these genes or genetic changes.

Examples of Tests Listed in the Genetic Testing Registry
Test Name Genes Tested Associated Conditions
Genetic Test A SRCAP Floating-Harbor Syndrome
Genetic Test B Gene X Condition Y
Genetic Test C Gene Z Condition Z

These examples demonstrate the variety of genetic tests listed in the GTR, targeting different genes and associated conditions. The information provided in the GTR can assist healthcare professionals in making accurate diagnoses and providing appropriate treatments for patients.

By consolidating information on genetic tests from various sources, the GTR serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic testing and its applications in understanding and managing genetic diseases and conditions.

Scientific Articles on PubMed

PubMed is a widely used database for retrieving scientific articles related to various medical and genetic conditions. It provides a comprehensive catalog of references from different sources, including medical and scientific journals. Researchers and healthcare professionals often rely on PubMed for accessing up-to-date information on genetic and health conditions, diagnostic tests, and genetic testing.

The SRCAP gene is involved in the Floating-Harbor syndrome, a genetic condition characterized by delayed physical and language development. Testing for variant changes in the SRCAP gene can help in the diagnosis of this syndrome.

When searching for scientific articles related to the SRCAP gene and Floating-Harbor syndrome on PubMed, researchers can use keywords such as “SRCAP gene,” “Floating-Harbor syndrome,” and “genetic testing.” The search results will provide a list of articles that discuss the genetic changes, symptoms, diagnostic tests, and possible treatments for this syndrome.

In addition to PubMed, researchers and healthcare professionals can also refer to other resources such as the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides detailed information on the genetic and clinical characteristics of various genetic conditions, including Floating-Harbor syndrome.

By utilizing resources like PubMed and OMIM, researchers can stay updated with the latest scientific findings and make informed decisions regarding the diagnosis and management of genetic conditions.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic conditions. It serves as a valuable resource for researchers, healthcare professionals, and individuals interested in genetic testing and understanding the genetic basis of various health conditions.

OMIM lists thousands of diseases and their corresponding genes. This catalog provides a wealth of information on the genetic basis of these conditions, including the specific gene variants associated with each disease.

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Testing for genetic conditions is becoming increasingly common in healthcare. OMIM provides a central repository of information on the genes and variants linked to various diseases, helping healthcare professionals make informed decisions about genetic testing.

The catalog includes both well-known genetic syndromes, such as Down syndrome and Turner syndrome, as well as rare and lesser-known conditions. The scientific names of diseases are provided, along with any other names or synonyms they may have.

Each gene listed in OMIM is accompanied by detailed information on its function and any associated genetic changes or mutations. This information is crucial for researchers studying genetic disorders and for healthcare professionals providing genetic counseling to patients and families.

In addition to genes and genetic diseases, OMIM also provides references to scientific articles and resources related to each condition. This allows users to access additional information and stay up-to-date with the latest research in the field of genetic medicine.

OMIM serves as a valuable tool for geneticists, clinicians, and researchers, providing a comprehensive catalog of genes and diseases. Its user-friendly interface and extensive information make it an essential resource for anyone interested in the genetic basis of health and disease.

Gene and Variant Databases

When it comes to testing for gene variants and related conditions, there are several resources available. These databases provide a wealth of information on the genes and variants associated with certain health conditions and diseases.

One of the most well-known databases is the Online Mendelian Inheritance in Man (OMIM) database. This database lists articles and scientific resources related to genetic conditions and provides information on the genes and variants associated with these conditions.

Another useful resource is PubMed, which is a comprehensive database of scientific articles. Researchers and healthcare professionals can search for specific genes or variants and find relevant information from references in these articles.

In addition to these databases, there are also gene-specific databases available. These databases focus on specific genes and provide detailed information on the different variants and their effects. For example, the SRCAP gene, which is associated with Floating-Harbor syndrome and intellectual disability, has its own gene-specific database.

Genetic testing for variants in specific genes can be done through these databases. Researchers and healthcare professionals can access information on the different tests available and their associated costs. They can also find additional resources related to genetic testing, such as genetic counseling services.

Overall, gene and variant databases are valuable resources for researchers, healthcare professionals, and individuals looking for information on genetic conditions. They provide detailed information on genes, variants, and associated diseases, ensuring that the most up-to-date information is available for testing and treatment purposes.

References

  • Genetic Testing Registry (GTR): Provides information on genetic tests for SRCAP gene and related conditions. Available at: https://www.ncbi.nlm.nih.gov/gtr

  • PubMed: Contains articles related to SRCAP gene and its functions. Available at: https://pubmed.ncbi.nlm.nih.gov

  • OMIM: Catalog of human genes and genetic disorders. Includes information on SRCAP gene and Floating-Harbor syndrome. Available at: https://www.omim.org

  • Additional Resources:

    • Genes and Diseases: Database for genes associated with diseases. Contains information on SRCAP gene. Available at: https://www.ncbi.nlm.nih.gov/genelists/GeneDiseaseList.html
    • SNP Catalog: Catalog of genetic variant information. Includes information on genetic changes in SRCAP gene. Available at: https://www.ncbi.nlm.nih.gov/snp
    • Genetic and Rare Diseases Information Center (GARD): Resource for genetic conditions and related genes. Provides information on Floating-Harbor syndrome. Available at: https://rarediseases.info.nih.gov/diseases/10150/floating-harbor-syndrome

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