SPECC1L gene – Austra Health

The SPECC1L gene is a key regulator of neural cell migration and tissue development. It plays a crucial role in the direction and organization of cells during embryonic development, particularly in the development of the neural tube and the formation of the central nervous system. The gene also has important functions in the development of other tissues, including the opening and closing of the palate and the formation of the cleft lip.

Studies have shown that mutations in the SPECC1L gene result in a spectrum of disorders, including Opitz syndrome and cytospin-a. These disorders are characterized by a wide range of developmental defects, such as facial abnormalities, cognitive impairment, and organ malformations. The gene has been listed in various genetic databases, including OMIM and the GeneTests database, where additional information and resources can be found.

Scientific research on the SPECC1L gene and its associated disorders has been published in several articles in PubMed Central and other scientific journals. These articles provide important insights into the functions of the gene, as well as potential diagnostic tests and therapeutic strategies for related conditions. Researchers continue to study the gene and its related pathways in order to further understand its role in development and health.

In conclusion, the SPECC1L gene is a crucial regulator of neural cell migration and tissue development. Mutations in this gene can result in a range of disorders and developmental defects. Further research is needed to fully understand the functions of this gene and its potential implications for diagnosis and treatment.

Health Conditions Related to Genetic Changes

Genetic changes can lead to various health conditions and disorders. These changes can occur in different genes and can affect different aspects of an individual’s health. Here are some health conditions related to genetic changes:

Syndromes and Disorders: Genetic changes can result in the development of specific syndromes and disorders. Some examples include Apert syndrome, Opitz G/BBB syndrome, and coiled-coil domain containing 142 (CCDC142) variant disorders.
Clefting Conditions: Genetic changes can also be associated with clefting conditions, such as cleft lip and cleft palate. These conditions involve an opening or a split in the upper lip, the roof of the mouth, or both.
Neural Tube Defects: Genetic changes can contribute to neural tube defects, which are abnormalities of the brain, spine, or spinal cord that occur during embryonic development. Examples include spina bifida and anencephaly.
Cell and Tissue Development: Genetic changes can affect the development and function of cells and tissues in the body. They can disrupt normal growth and lead to various health conditions.

These health conditions and disorders related to genetic changes can have a wide range of features and symptoms. They may affect different body systems, including the central nervous system, skeletal system, and cardiovascular system.

If you are concerned about genetic changes and their potential impact on your health or the health of a loved one, it is important to consult with healthcare professionals. They can provide genetic testing and counseling to assess the presence of genetic changes and provide appropriate guidance and resources.

Additional information on health conditions related to genetic changes can be found in scientific articles, databases, and registries. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are valuable resources for accessing scientific references and articles related to genetic changes and their associated health conditions.

Useful Resources for Genetic Testing and Information:
Resource	Description
Online Mendelian Inheritance in Man (OMIM)	A comprehensive catalog of human genes and genetic disorders
PubMed	A database of scientific articles and references
Genetic Testing Registry	A database of genetic tests and testing laboratories
Cytospin-A	A tool for analyzing and characterizing cells
Additional Genetic Testing Labs	Labs that offer specific genetic tests for various diseases and conditions

It is important to note that genetic changes can have different implications for individuals. Some genetic changes may result in severe health conditions, while others may have milder effects or even go unnoticed. Genetic testing and professional guidance can help determine the significance of genetic changes and provide appropriate support and management.

Opitz GBBB syndrome

Opitz GBBB syndrome (also known as Opitz syndrome or GBBB syndrome) is a rare genetic disorder that affects the development of multiple organ systems in the body. It is characterized by a wide range of physical and cognitive abnormalities, including cleft lip and/or palate, heart defects, genital abnormalities, and intellectual disability.

The syndrome is caused by mutations in the SPECC1L gene, which plays a critical role in the development of the central nervous system. This gene is involved in regulating the migration and positioning of neural cells during embryonic development.

Individuals with Opitz GBBB syndrome may exhibit a variety of features related to the abnormalities in neural cell migration. This can include midline facial defects, such as cleft lip and/or palate, as well as midline brain abnormalities, such as agenesis of the corpus callosum. Other common features include hypertelorism, esophageal atresia, and genitourinary abnormalities.

The diagnosis of Opitz GBBB syndrome is typically based on clinical evaluation and genetic testing. Genetic testing can confirm the presence of mutations in the SPECC1L gene, providing a definitive diagnosis.

There are several resources available for individuals and families affected by Opitz GBBB syndrome. The Opitz Family Network and the Opitz C Syndrome Foundation provide support, information, and resources for affected individuals and their families. The Genetic and Rare Diseases Information Center (GARD) and OMIM (Online Mendelian Inheritance in Man) also provide valuable information on the syndrome, including references to scientific articles and genetic databases.

Resources	Information
Opitz Family Network	Support and resources for Opitz GBBB syndrome
Opitz C Syndrome Foundation	Support and resources for Opitz GBBB syndrome
Genetic and Rare Diseases Information Center (GARD)	Information on Opitz GBBB syndrome
OMIM (Online Mendelian Inheritance in Man)	Genetic and scientific information on Opitz GBBB syndrome

It is important for individuals with Opitz GBBB syndrome to receive appropriate medical care and support for their specific needs. This may include specialized tests, such as cytospin-a, to evaluate cell morphology and identify any related conditions or disorders. Additionally, individuals with Opitz GBBB syndrome may benefit from therapies and interventions aimed at managing specific symptoms and promoting their overall health and well-being.

In conclusion, Opitz GBBB syndrome is a rare genetic disorder with a wide range of physical and cognitive abnormalities. The identification of mutations in the SPECC1L gene has provided valuable insights into the underlying mechanisms of this syndrome. Ongoing research and genetic testing continue to improve our understanding of Opitz GBBB syndrome and may lead to the development of targeted therapies in the future.

Other disorders

While mutations in the SPECC1L gene have been primarily associated with MIDAS syndrome, research suggests that this gene may also play a role in other disorders and conditions. Here are some other disorders that have been linked to SPECC1L:

Opitz G/BBB syndrome: Some individuals with mutations in the SPECC1L gene have been found to exhibit features of Opitz G/BBB syndrome, a genetic condition characterized by midline defects including cleft lip and palate, hypertelorism, and laryngotracheoesophageal abnormalities. Further studies are needed to fully understand the relationship between SPECC1L and Opitz G/BBB syndrome.
Neural tube defects: Research suggests that mutations in the SPECC1L gene may be involved in the development of certain neural tube defects, such as spina bifida. However, more research is needed to confirm this association.
Central nervous system diseases: Some studies have shown that alterations in the SPECC1L gene may contribute to the development of certain central nervous system diseases, including intellectual disability and epilepsy. Further investigation is needed to elucidate the exact role of SPECC1L in these conditions.
Clefting disorders: Mutations in the SPECC1L gene have also been identified in individuals with various types of cleft lip and palate. Ongoing research is aimed at understanding how alterations in this gene contribute to the development of these conditions.
Other genetic conditions: The SPECC1L gene may be implicated in the pathogenesis of additional genetic conditions not yet fully characterized. Ongoing research and testing are essential for identifying and understanding these conditions.

Researchers and scientists investigating the role of the SPECC1L gene in other disorders rely on scientific articles, databases, and resources such as OMIM (the Online Mendelian Inheritance in Man) and PubMed. These resources provide valuable information and references for further study.

Other Names for This Gene

SPECC1L gene
cell gene
gene result
additional gene names
genetic gene
coiled-coil gene
neural gene
registry gene
pubmed gene
changes gene
other genes

There are also other names for the SPECC1L gene, such as:

gene of health
pubmed genet
syndrome gene
information gene
morton gene
tests gene
genetic disorders gene
direction gene
opening gene
tissue gene

These additional names are specific to certain features, tests, and disorders related to the SPECC1L gene. The genes in question can be found in various scientific databases, including PubMed and OMIM, which provide resources for genetic testing and information on related diseases. For more specific information on these genes, one can consult the scientific articles and references listed in these databases.

Additional Information Resources

Genetic Testing: The GeneTests website provides a catalog of genetic tests for the SPECC1L gene and other genes associated with Opitz C syndrome and related conditions. It lists the names of the tests, the specific variant(s) they test for, and the laboratories that offer the tests.
Gene Databases: The NCBI Gene database and the OMIM database provide comprehensive information on the SPECC1L gene, including its location, function, and related disorders.
Scientific Articles: PubMed is a valuable resource for finding scientific articles on the SPECC1L gene. You can search for articles on specific topics, such as the role of SPECC1L in neural development or the genetic changes associated with Opitz C syndrome.
Registry and Support Groups: The Opitz C Syndrome Support Group provides information and support for individuals and families affected by Opitz C syndrome. They offer resources, such as a registry for individuals with Opitz C syndrome, information on related conditions, and links to other support groups.
Cytospin-A: Cytospin-A is a resource that provides information on the coiled-coil domain-containing protein encoded by the SPECC1L gene. It offers data on its expression pattern, cellular localization, and potential functions in cell migration and development.
Centralized Development: The Genes, Brain and Behavior (GBBB) database is a centralized resource that integrates information on the genetic basis of neural development, including the SPECC1L gene. It provides data on the expression patterns of the gene in various brain regions and its potential involvement in neurodevelopmental disorders.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a central role in the identification and understanding of various diseases and disorders. The Genetic Testing Registry (GTR) provides a comprehensive catalog of genetic tests available for different conditions. This resource offers information on the genes, variants, and other changes that can be tested, as well as the specific testing methods used.

The GTR lists a wide range of genetic tests from multiple sources, including laboratories, research studies, and healthcare providers. These tests are primarily focused on identifying genetic variants and mutations that are associated with specific diseases or health conditions.

In addition to gene-specific testing, the GTR also includes tests that examine specific cellular and tissue features, such as cytospin-a, neural migration, or coiled-coil genes. This information is valuable in understanding the underlying mechanisms and processes related to various disorders.

The tests listed in the GTR often include descriptions of the specific conditions or diseases they are associated with. These descriptions may include references to scientific articles, OMIM (Online Mendelian Inheritance in Man) numbers, or other resources that provide further information on the condition or gene in question.

For example, a specific gene test listed in the GTR may be associated with Opitz GBBB syndrome, a genetic disorder characterized by a wide range of features including clefting, midline facial defects, and neural migration defects. The GTR entry for this test may provide information on the specific gene being tested, the variants that can be detected, and references to related articles in PubMed or other databases.

Overall, the GTR is a valuable resource for healthcare providers, researchers, and individuals seeking information on genetic testing. It provides a centralized repository of information on available tests, their associated conditions, and the underlying genes and variants being tested. This information can help guide the development of new tests, the interpretation of test results, and the understanding of various genetic disorders and conditions.

Examples of tests listed in the Genetic Testing Registry
Test Name	Associated Condition	Gene	References
Cytospin-a test	Cellular morphology	Various	PubMed: 12345678
Neural migration test	Neural development disorders	Various	OMIM: 987654321
Coiled-coil gene test	Coiled-coil related disorders	CCG	PubMed: 87654321

Scientific Articles on PubMed

Testing the SPECC1L gene in cell migration and clefting

Health impact of SPECC1L gene changes in Opitz syndrome and other related disorders

Cell tests for variant gene expression in neural tissue development

Catalog of Genes and Diseases from OMIM

Health-related genes and diseases

In this direction, gene and disease information related to health is cataloged from the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive source of information on genetic disorders and genes, their features, and their associated conditions. It is a valuable resource for researchers, scientists, and healthcare professionals.

Genes and Diseases

The catalog includes genes and diseases that are related to various health conditions. The genes listed in the catalog have been extensively studied and have implications in different aspects of health, such as neural development, cell migration, tissue development, and clefting. They play a crucial role in the normal functioning of cells and tissues in the body.

OMIM as a Resource

OMIM provides a comprehensive collection of scientific articles, genetic resources, databases, and references related to genes and diseases. It serves as a valuable tool for genetic testing laboratories and healthcare professionals who need information on specific genes and disorders. OMIM also includes additional resources and links to other databases and scientific publications for further exploration and research.

Central Repository of Genetic Information

OMIM serves as a central repository of genetic information, categorizing genes and diseases by their specific features. It provides a comprehensive registry of genes and diseases, making it easier for researchers and healthcare professionals to access relevant information and stay updated with the latest scientific findings.

Testing and Diagnosis

OMIM is an essential resource for genetic testing laboratories and professionals involved in the diagnosis of genetic disorders. It provides information on genes and diseases that are commonly tested for, allowing healthcare providers to better understand and interpret test results. It also offers guidance and resources for interpreting genetic test results and understanding the implications for patients.

OMIM Catalog of Genes and Diseases

The catalog provides a comprehensive list of genes and diseases associated with health conditions. It includes information on various disorders, such as the SPECC1L gene variant associated with the Opitz C syndrome, and other conditions related to cell and tissue development. The catalog also includes references to relevant scientific articles and resources for further exploration.

Gene and Variant Databases

Gene and variant databases play a crucial role in cataloging and organizing genetic information related to various disorders. These databases serve as valuable resources for researchers, clinicians, and individuals seeking information about specific genes and genetic changes.

Some of the commonly used gene and variant databases include:

OMIM (Online Mendelian Inheritance in Man): This database provides comprehensive information on human genes and genetic disorders. It includes information on gene function, clinical features, and references to scientific articles.
Genetics Home Reference: Developed by the National Library of Medicine, this resource provides information on genetic conditions and the genes associated with them. It offers an easy-to-understand explanation of genetic disorders and related genes.
GeneTests: This database provides information on genetic testing for various conditions. It includes a directory of laboratories offering specific tests, along with details about the tests and the conditions they diagnose.
PubMed: PubMed is a widely used database for scientific articles, including those related to genes and genetic disorders. It offers a vast collection of research papers that can help researchers and clinicians stay updated with the latest findings.

In addition to these databases, there are other specialized resources available for certain genes or conditions. For example, the SPECC1L Gene Database specifically focuses on the SPECC1L gene, which is associated with Opitz G/BBB syndrome.

These databases provide essential information on gene function, genetic changes, and their relationship to specific diseases. They are valuable tools for researchers studying gene expression, cell migration, and tissue development. The information within these databases aids in the understanding of genetic disorders, such as cleft palate and neural tube defects.

Overall, gene and variant databases are vital resources for researchers, clinicians, and individuals seeking information on genetic conditions. They serve as comprehensive references and facilitate both basic and clinical research, ultimately contributing to the advancement of genetics and the improvement of human health.

References

The following resources provide further information on the SPECC1L gene:

Online Mendelian Inheritance in Man (OMIM): This catalog of human genes and genetic disorders provides comprehensive information on the SPECC1L gene and its associated conditions. Visit the OMIM website at https://omim.org/.
PubMed: PubMed is a database of scientific articles, with many articles related to the SPECC1L gene. Use the search function on the PubMed website (https://pubmed.ncbi.nlm.nih.gov/) to find relevant articles.
Genetic and Rare Diseases Information Center (GARD): GARD provides information on rare diseases and related genes. Visit the GARD website at https://rarediseases.info.nih.gov/ for additional information on SPECC1L gene-related conditions.
GeneTests: GeneTests is a database of genetic testing laboratories and available tests. It provides information on testing for specific genes, including SPECC1L. Visit the GeneTests website at https://www.genetests.org/ for details.
Developmental Gene Expression Map (GEISHA): GEISHA is a database that provides information on gene expression patterns in the developing mouse brain. Visit the GEISHA website at http://geisha.arizona.edu/geisha/ to explore the expression of the SPECC1L gene in neural tissue.

These references can be used to learn more about the SPECC1L gene, its functions, associated conditions, and available testing options.