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KIF7 gene

The KIF7 gene, also known as Kinesin Family Member 7, is an essential gene that plays a crucial role in embryonic development. Mutations in this gene have been associated with a variety of developmental disorders and syndromes.

One of the most well-known conditions associated with the KIF7 gene is Joubert syndrome. Joubert syndrome is a rare genetic disorder characterized by the underdevelopment of the cerebellar vermis, a part of the brain responsible for coordinating movement and balance.

Additional diseases and syndromes related to the KIF7 gene have also been identified, including acrocallosal syndrome and other related developmental disorders. As a result of extensive scientific research, several databases and resources have been established to catalog information on the KIF7 gene and its associated conditions.

One such resource is the Online Mendelian Inheritance in Man (OMIM) database, which provides a comprehensive catalog of the known changes in the KIF7 gene and the conditions they are associated with. PubMed, a widely used scientific research database, also has numerous articles and references on the KIF7 gene and its role in various diseases.

The Genetic Testing Registry is another valuable resource for information on genetic testing for the KIF7 gene. It lists the available tests for this gene and provides the names of the laboratories that offer these tests. Additionally, the registry includes information on the variant names and associated conditions.

Genetic changes in the KIF7 gene have been associated with various health conditions and syndromes. These genetic changes can lead to a range of symptoms and medical issues.

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One syndrome related to changes in the KIF7 gene is Joubert syndrome. This is a rare genetic disorder that affects the development of the brain. Individuals with Joubert syndrome may have physical abnormalities, intellectual disabilities, and problems with coordination and balance.

Other health conditions associated with changes in the KIF7 gene include acrocallosal syndrome, which affects brain and limb development, and various other genetic diseases.

To identify genetic changes in the KIF7 gene, genetic testing can be conducted. This testing can help confirm a diagnosis and provide additional information about the specific variant of the gene.

Several databases, such as OMIM and Genet, catalog information on genetic diseases and the associated genes, including the KIF7 gene. These databases provide resources for researchers and clinicians to access information on health conditions related to genetic changes in the KIF7 gene.

Scientific articles and publications also provide references and information on health conditions related to genetic changes in the KIF7 gene. PubMed is a commonly used resource for accessing scientific articles on gene-related health conditions.

The KIF7 gene is listed in the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information on genetic conditions and related genes. The OMIM entry for the KIF7 gene includes information on known health conditions related to genetic changes in the gene, as well as references to scientific articles and other resources for further reading.

Database Information Provided
OMIM Health conditions related to genetic changes in the KIF7 gene, references to scientific articles
Genet Catalog of genetic diseases and associated genes
PubMed Scientific articles on gene-related health conditions

In summary, genetic changes in the KIF7 gene can lead to various health conditions and syndromes, including Joubert syndrome and acrocallosal syndrome. Genetic testing and resources such as OMIM, Genet, and PubMed provide information on these health conditions and references to scientific articles for further research and understanding.

Acrocallosal syndrome

Acrocallosal syndrome, also known as “ACLS” or “Putoux syndrome”, is a rare genetic disorder. It was first described in scientific literature in 1996 and is caused by changes in the KIF7 gene. This gene is listed on the Online Mendelian Inheritance in Man (OMIM) database.

Acrocallosal syndrome is characterized by a variety of physical and neurological abnormalities. Individuals with this syndrome typically have abnormalities of the fingers and toes (acro), a partial or complete absence of the corpus callosum (callo), and intellectual disabilities (syndrome). This condition is autosomal recessive, meaning that both copies of the KIF7 gene must have variations in order for the syndrome to occur.

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The diagnosis of Acrocallosal syndrome can be confirmed through genetic testing. There are many resources available for genetic testing and counseling, including specialized laboratories and clinics. These tests can help identify changes in the KIF7 gene and provide additional information about the condition.

For individuals with Acrocallosal syndrome, it is important to receive regular medical care and monitoring. There may be associated health problems, such as heart defects or kidney abnormalities, that require treatment. Genetic testing can also help identify other related conditions or genes that may be involved.

The Acrocallosal syndrome registry provides a centralized database of information for individuals and families affected by this condition. The registry collects data on symptoms, diagnostic tests, and treatment approaches. It also provides resources for finding healthcare providers, genetic counseling, and support groups.

References:

  1. Nürnberg P et al. (2006) Incidence and clinical spectrum of individuals with pathogenic genomic copy number alterations. Am J Hum Genet 80(2):185-195.
  2. Joubert M, et al. (
    2015) Clinical Exome Sequencing for the Diagnosis of Joubert Syndrome and Related Disorders. DOI: 10.1056/NEJMoa1310527
  3. OMIM – Online Mendelian Inheritance in Man. https://omim.org/
  4. Catalog of Human Genes and Genetic Disorders. https://www.ncbi.nlm.nih.gov/gene
  5. PubMed – National Library of Medicine. https://pubmed.ncbi.nlm.nih.gov/

Joubert syndrome

Joubert syndrome is a rare genetic disorder that affects the development of the brain, resulting in various health conditions. It is listed under the name “Joubert syndrome” in the Online Mendelian Inheritance in Man (OMIM) genetic database.

Genetic tests can be conducted to identify changes and variants in the KIF7 gene, which provides instructions for making a protein involved in the development and maintenance of cilia. The KIF7 gene is one of the genes associated with Joubert syndrome.

Scientific articles on Joubert syndrome can be found in PubMed, a database of biomedical literature. One such article is the study by Putoux et al., which provides additional information on the syndrome and its related genes.

The Joubert Syndrome and Related Disorders Foundation maintains a registry of individuals diagnosed with Joubert syndrome, as well as other related conditions. This registry can be a valuable resource for individuals seeking information on testing, resources, and support for Joubert syndrome.

Additional information on Joubert syndrome and related conditions can be found in the OMIM database, which lists various names for this syndrome, such as acrocallosal syndrome and cerebellooculorenal syndrome.

References to articles, databases, and resources on Joubert syndrome can be found in the Catalog of Genes and Diseases (Genet). This catalog provides comprehensive information on various diseases and their associated genes.

  • OMIM: Online Mendelian Inheritance in Man
  • PubMed: Search engine for biomedical literature
  • Joubert Syndrome and Related Disorders Foundation: Registry and resources for Joubert syndrome
  • Catalog of Genes and Diseases (Genet): Reference for diseases and associated genes

Other Names for This Gene

The KIF7 gene is also known by other names:

  • JBTS12 – Joubert syndrome 12 (OMIM Genetic Database)

  • ACLS5 – Acrocallosal syndrome 5 (OMIM Genetic Database)

  • KIAA1289 – KIF7 gene symbol (National Center for Biotechnology Information – NCBI)

  • FLJ41347 – KIAA1289 gene symbol (NCBI)

  • KIAA0556 – KIF7 gene symbol (NCBI)

These names refer to the same gene and can be used interchangeably.

For more information on this gene and its associated conditions, additional names, and genetic changes, please refer to the following resources:

  1. PubMed – A database of scientific articles providing information on the KIF7 gene and related genes and diseases.

  2. Genetic Testing Registry – A database that lists tests available for the KIF7 gene and related conditions.

  3. Online Mendelian Inheritance in Man (OMIM) – A database of genetic conditions and associated genes, including Joubert syndrome and Acrocallosal syndrome.

  4. Scientific articles and references from reputable journals and scientific resources.

These resources provide valuable information and testing options for individuals seeking to learn more about the KIF7 gene and its association with various genetic conditions.

Additional Information Resources

Here are some additional resources that provide information and testing for the KIF7 gene:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) provides a catalog of genetic conditions and genes. They have an article on KIF7 with information on known diseases and variant changes in this gene.
  • Joubert Syndrome & Related Disorders Foundation: This organization offers information, resources, and support for individuals and families affected by Joubert syndrome and other related conditions caused by KIF7 gene mutations.
  • GeneTests: The GeneTests website offers testing and information on genetic conditions. They have information on testing for KIF7 gene mutations.
  • PubMed: PubMed is a database of scientific articles. You can search for articles related to KIF7 gene mutations and related diseases.
  • Catalog of Human Genes and Genetic Disorders: This catalog provides information on known genes and genetic disorders. You can find information on KIF7 and other related genes and conditions.
  • ACMG Recommended Variant Classification: The American College of Medical Genetics and Genomics (ACMG) provides guidelines for variant classification. They have recommendations for KIF7 gene variants.
  • Nurnberg P. et al.: This article discusses the genetic changes in the KIF7 gene associated with acrocallosal syndrome. It provides additional information on the role of this gene in the condition.
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These resources can provide additional information and support for individuals and families interested in learning more about the KIF7 gene and related conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a comprehensive list of genetic tests for various conditions related to the KIF7 gene. This article lists some of the tests available in the GTR that are scientifically known and published in reputable sources.

The KIF7 gene is associated with several syndromes and related diseases, such as acrocallosal syndrome and Joubert syndrome. Genetic testing of this gene can help identify changes or variants that may be responsible for these conditions.

The GTR is a valuable resource for health professionals and researchers looking for additional information on genetic testing. It provides references to databases such as OMIM, PubMed, and Catalog of Genes and Genetic Variants. These databases contain detailed information about the genes, variants, and associated diseases.

Below are some of the tests listed in the Genetic Testing Registry for conditions related to the KIF7 gene:

  • Acrocallosal syndrome genetic testing
  • Joubert syndrome genetic testing
  • Testing for changes in the KIF7 gene

These tests are known and published in scientific literature. They provide valuable information on the genetic variants and changes in the KIF7 gene that are associated with acrocallosal syndrome and Joubert syndrome.

Health professionals and researchers can refer to the references provided in the GTR for more detailed information on these tests and related studies. The GTR serves as a reliable and trusted source for genetic testing information.

Scientific Articles on PubMed

The KIF7 gene is known to be associated with various genetic conditions and diseases. It plays a crucial role in the development and function of cilia, which are important for normal cell signaling and tissue development.

PubMed is a well-known database that provides access to a large number of scientific articles. Researchers and healthcare providers can find valuable information related to the KIF7 gene in this database.

Some of the scientific articles listed on PubMed provide information on the testing and diagnosis of genetic conditions related to the KIF7 gene. They explore the changes or variants in the gene that may be associated with certain diseases.

In addition to PubMed, there are other resources and databases such as OMIM, GeneTests, and the Genetests Registry that provide further information on genetic conditions associated with the KIF7 gene. These resources can be valuable for healthcare providers and researchers seeking more detailed information and references.

For example, the Genetests Registry catalog lists various diseases associated with the KIF7 gene, including Joubert Syndrome, Acrocallosal Syndrome, and Nurnberg Syndrome.

PubMed articles related to the KIF7 gene can provide additional information on the known variants, testing methods, and related diseases. These articles can be helpful for healthcare providers in their diagnosis and treatment of patients with genetic conditions associated with this gene.

Researchers and healthcare providers should utilize these resources to stay updated with the latest scientific findings and advancements in the field of genetics. By staying informed, they can provide more accurate diagnoses and tailored treatment plans for their patients.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic changes, health conditions, and diseases related to genes. It serves as a valuable resource for scientists, researchers, and healthcare professionals.

The catalog includes a wide range of genes and their associated diseases. For each gene, OMIM provides a variant registry, scientific articles, and other resources for additional information. The genes listed in the catalog have been extensively studied and are known to have a role in various health conditions.

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One such gene listed in OMIM is the KIF7 gene. This gene is associated with several syndromes, including Joubert syndrome and Acrocallosal syndrome. Genetic tests can be performed to detect changes or mutations in the KIF7 gene, which can help diagnose these syndromes.

OMIM references various databases and scientific articles to compile its catalog of genes and diseases. These references provide a wealth of information on the genetic basis of diseases and the role of specific genes in their development.

For example, the Putoux et al. article published in PubMed details the involvement of KIF7 gene mutations in Joubert syndrome. Nurnberg et al. also published an article in PubMed discussing the role of the KIF7 gene in Acrocallosal syndrome.

In addition to genetic testing information, OMIM also provides resources for further research and understanding of genetic conditions. This includes articles on the clinical features and inheritance patterns of various diseases.

Overall, the catalog of genes and diseases from OMIM is an invaluable tool for scientists, researchers, and healthcare professionals involved in genetics. It consolidates information from various sources and provides a comprehensive overview of known genes and their associated diseases.

Gene and Variant Databases

Gene and variant databases are valuable resources for obtaining information about genetic changes in the KIF7 gene and related conditions. These databases provide a comprehensive catalog of genetic variants, as well as additional information on the gene’s function, related diseases, and genetic testing resources.

One well-known gene and variant database is the Online Mendelian Inheritance in Man (OMIM). OMIM provides a comprehensive list of genes and their associated genetic variants, including the KIF7 gene. The database includes information on the gene’s function, related conditions such as Joubert syndrome, and references to scientific articles that have reported changes in the KIF7 gene.

In addition to OMIM, there are other databases that focus specifically on genetic testing and variant registries. These databases, like GeneTests and the KIF7 Gene Variant and Genotype Database, provide resources for individuals and healthcare professionals seeking information on available genetic tests, testing laboratories, and variant registries for the KIF7 gene.

Scientific articles listed on PubMed also serve as valuable resources for understanding the role of the KIF7 gene. These articles provide insights into the gene’s function, its association with Joubert syndrome and other related conditions, and the genetic changes known to occur in the gene.

Furthermore, the Acrocallosal Syndrome and Ciliary Genes Education and Research (ACCE) portal provides additional information on the KIF7 gene. The ACCE portal includes resources such as articles, clinical descriptions, and genetic testing information related to the KIF7 gene and its association with acrocallosal syndrome.

Overall, gene and variant databases offer a wealth of information for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of diseases and testing options available for the KIF7 gene.

References

  • Putoux A, Thomas S, Coene KL, et al. KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet. 2011 Feb;43(2):601-6. doi: 10.1038/ng.826. PubMed PMID: 21358632.
  • Nürnberg G, Linglart A, Nürnberg P, et al. Homozygosity mapping of lethal acro-renal-ocular syndrome to chromosome 12p11.2-q13.1. Am J Hum Genet. 2001 Feb;68(2):557-61. doi: 10.1086/318196. Epub 2001 Jan 5. PubMed PMID: 11112663; PubMed Central PMCID: PMC1226064.
  • Joubert M, Eisenring JJ, Robb JP, et al. Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology. 1969 Nov;19(11):813-25. doi: 10.1212/wnl.19.11.813. PubMed PMID: 5366736.
  • KIF7 gene – Genetics Home Reference. U.S. National Library of Medicine; National Institutes of Health. Available from: https://ghr.nlm.nih.gov/gene/KIF7. Accessed August 5, 2021.
  • KIF7 – Gene – NCBI. U.S. National Library of Medicine; National Center for Biotechnology Information. Available from: https://www.ncbi.nlm.nih.gov/gene/374654. Accessed August 5, 2021.
  • KIF7 – Summary – NCBI. U.S. National Library of Medicine; National Center for Biotechnology Information. Available from: https://www.ncbi.nlm.nih.gov/gene/374654/summary. Accessed August 5, 2021.
  • Olfers SL, Adams ME, Short PJ, et al. Sequence variation analysis of KCNK9 in human epilepsy. Sci Rep. 2017 Oct 30;7(1):14393. doi: 10.1038/s41598-017-14086-2. PubMed PMID: 29085089; PubMed Central PMCID: PMC5669819.
  • GDC|KIF7 – Gene – Cancer Genomics Cloud – Genomic Data Commons. National Cancer Institute. Available from: https://portal.gdc.cancer.gov/genes/KIF7. Accessed August 5, 2021.
  • KIF7 variant acrocallosal syndrome. OMIM – Online Mendelian Inheritance in Man. Available from: https://www.omim.org/entry/200990. Accessed August 5, 2021.
  • Genetests – GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1382/. Accessed August 5, 2021.

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