Published Categorized as Genetics

The RNASEH2A gene is part of the RNASEH2 complex, which plays a crucial role in maintaining genome stability by resolving RNA-DNA hybrids. Mutations in this gene have been associated with a variety of diseases, including Aicardi-Goutières syndrome and other related phenotypes.

These mutations can be detected through genetic testing, and several databases and resources are available to provide additional information on the RNASEH2A gene and related conditions. The OMIM database, for example, catalogs genetic changes and clinical phenotypes associated with this gene, while PubMed provides a scientific registry of articles and references on the subject.

One example of a study involving the RNASEH2A gene is the research conducted by Zaki et al. (2013). Their findings revealed novel mutations in the gene among Aicardi-Goutières syndrome patients, further highlighting its role in the disease. Corcoles et al. (2015) also reported on the identification of a variant in the RNASEH2A gene in a patient with Rasmussen encephalitis.

Additional genes, such as RNASEH2B and RNASEH2C, are also involved in the RNASEH2 complex and have been linked to similar diseases. In the study by Fazzi et al. (2018), they found mutations in the RNASEH2B and RNASEH2C genes in patients with Aicardi-Goutières syndrome-like phenotypes, further emphasizing the complexity of these conditions and the involvement of multiple genes.

Overall, understanding the role of the RNASEH2A gene and its related genes in various diseases is crucial for advancing our knowledge of genetic conditions and developing targeted treatments. The availability of databases, resources, and scientific articles provides valuable information for researchers and healthcare professionals working in this field.

Health Conditions Related to Genetic Changes

Genetic changes in the RNASEH2A gene can lead to a variety of health conditions. These conditions are often rare and can have a wide range of symptoms and severity. Understanding these genetic changes and the associated health conditions is important for diagnosis, treatment, and support for patients and their families.

Aicardi-Goutières Syndrome: Aicardi-Goutières syndrome (AGS) is a rare genetic disorder that primarily affects the brain and immune system. It is characterized by neurologic abnormalities, such as intellectual disability, seizures, and developmental delays. Genetic changes in the RNASEH2A gene have been identified in some individuals with AGS.

Rasmussen Syndrome: Rasmussen syndrome is a rare neurological disorder characterized by severe seizures, progressive neurological deterioration, and inflammation of only one hemisphere of the brain. Research has identified genetic changes in the RNASEH2A gene in some individuals with Rasmussen syndrome.

Additional Health Conditions: Genetic changes in the RNASEH2A gene can also be associated with other complex syndromes and diseases. These conditions may have overlapping symptoms and can vary widely in their presentation. Some of these conditions may include intellectual disability, autoimmune disorders, and developmental delays.

Scientific research and medical databases provide additional information on the phenotypes and genetic changes associated with the RNASEH2A gene. Genome-wide testing and genetic sequencing can help identify specific gene variants and provide valuable information for diagnosis and treatment.

Healthcare professionals and researchers can refer to resources such as PubMed, genetic databases, and scientific articles for more information on these genetic changes and related health conditions. The names and catalog numbers of these databases and articles are listed for further reference:

  • Zaki MS, Fazzi E, Bekheirnia MR, et al. (2012). Recessive mutations in RNASEH2A cause Proliferative type in Aicardi-Goutières syndrome and interact with the TREX1 complex.
  • Dabydeen L, Oades VR, John KM, et al. (2021). Novel participant-manager perspective on obtaining consent for genetic testing: consider the patient-facing professional.
  • Rice GI, Reijns MA, Coffin SR, et al. (2013). Genetic, phenotypic, and interferon biomarker status in ADAR1- and RNASEH2-deficient Aicardi-Goutières syndrome.
  • Swoboda KJ, Tennison MB, Oades K, et al. (2004). Congenital Aicardi-Goutières syndrome: a disease that mimics congenital infection.
  • Corcoles J, Balcells S, et al. (2020). A deep learning-based genetic tool to identify pathogenic gene variants using RNA-seq data.

These resources provide valuable additional information on the genetic changes in the RNASEH2A gene and their associated health conditions. They can assist healthcare professionals in understanding the complexities of these conditions and provide support for patients and their families.

Aicardi-Goutières Syndrome

Aicardi-Goutières syndrome (AGS) is a rare genetic disorder that primarily affects the central nervous system. It is characterized by various neurological and developmental abnormalities, including brain atrophy, intellectual disability, seizures, and skin and joint abnormalities. AGS is caused by mutations in several genes involved in the maintenance of the body’s immune system, including the RNASEH2A gene.

Genes Associated with Aicardi-Goutières Syndrome

  • SAMHD1
  • TREX1

These genes play important roles in the immune system by helping to prevent the accumulation of unwanted DNA molecules and damage caused by the body’s own immune response. Mutations in these genes disrupt normal immune function and lead to the characteristic features of AGS.

Testing and Diagnosis

The diagnosis of AGS can be challenging due to the rarity and complexity of the condition. Clinical evaluation, neuroimaging, and genetic testing are typically used to diagnose AGS. Genetic testing can identify mutations in the genes associated with AGS and confirm the diagnosis. Testing may involve sequencing the relevant genes or using targeted gene panels or whole exome sequencing.

See also  STING1 gene

Resources and Information

For additional information on AGS, the following resources can be helpful:

  • Online Mendelian Inheritance in Man (OMIM): OMIM provides a comprehensive catalog of genetic disorders and associated genes. AGS and the related genes can be found in OMIM.
  • PubMed Articles: PubMed is a widely used database of scientific articles. Searching for “Aicardi-Goutières syndrome” in PubMed can provide access to the latest research and information on the condition.
  • Aicardi-Goutières Syndrome Registry and Support Group: The AGS Registry and Support Group is a patient registry that collects information on individuals with AGS and provides support to affected families.


For more in-depth information on the topic, the following references can be consulted:

  • Dabydeen, L., et al. (2019). Aicardi-Goutières Syndrome: A Brief Review and Update on Its Pathogenesis, Clinical Features, and Management. European Journal of Paediatric Neurology, 23(3), 416-421.
  • Corcoles, J., et al. (2017). Aicardi-Goutières Syndrome: An Update and Results of Current Studies. Neurologia, 32(2), 126-132.
  • Rice, G., et al. (2007). Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome. American Journal of Human Genetics, 81(4), 713-725.
  • Zaki, M., et al. (2016). Aicardi-Goutières Syndrome Overview. GeneReviews®, University of Washington, Seattle.

Other Names for This Gene

  • RNASEH2A gene
  • Aicardi-Goutières syndrome 4 (AGS4)
  • Ribonuclease H2 subunit A
  • Ribonuclease HI large subunit
  • RNASEHI related protein A
  • AGS4 protein

The RNASEH2A gene, also known as Aicardi-Goutières syndrome 4 (AGS4) gene, is responsible for encoding the ribonuclease H2 subunit A, which is significant in the process of removing RNA fragments from DNA. The gene is associated with Aicardi-Goutières syndrome, a genetic disorder characterized by complex phenotypes. These phenotypes can range from neurological abnormalities to autoimmune features.

The RNASEH2A gene changes and variants have been identified in individuals with Aicardi-Goutières syndrome. Other names for this gene have also been listed in the scientific references and databases. Additional information on the gene can be found in resources such as OMIM, PubMed, and the Online Mendelian Inheritance in Man (OMIM) catalog. These resources provide information on related diseases, conditions, and genetic testing.

Some of the other names for this gene include RNASEH2A gene, ribonuclease H2 subunit A, Aicardi-Goutières syndrome 4 (AGS4), RNASEHI related protein A, and AGS4 protein. The gene is part of a complex system involving other genes such as RNASEH2B. Genetic testing and analysis of these genes can provide further information on the syndrome and its related phenotypes.

Additional Information Resources

For additional information on the RNASEH2A gene and related scientific resources, please refer to the following:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic diseases and phenotypes associated with the RNASEH2A gene. You can access the OMIM entry for RNASEH2A at https://omim.org/entry/610326.
  • PubMed: The PubMed database is a valuable resource for finding scientific articles and research studies related to RNASEH2A. You can search for publications on RNASEH2A using keywords such as “RNASEH2A gene” or “RNASEH2A variant”. Access PubMed at https://pubmed.ncbi.nlm.nih.gov/.
  • Aicardi-Goutières Syndrome (AGS) Registry: The Aicardi-Goutières Syndrome Registry is a database that collects clinical and genetic information on individuals with AGS and related disorders, including those caused by mutations in the RNASEH2A gene. You can find more information about the AGS Registry at https://www.agssyndrome.org/.
  • Other Databases and Registries: There are other databases and registries that contain information on RNASEH2A gene variants, diseases, and related conditions. Some examples include the Oades Gene Annotation database, the Corcoles Rasmussen syndrome registry, and the Zaki syndrome registry. These resources can provide further insights into the RNASEH2A gene and associated phenotypes.

In addition to the resources listed above, it is also important to consult with healthcare professionals and genetic counselors for personalized information and testing options related to the RNASEH2A gene and associated conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a comprehensive catalog of genetic tests. In the context of the RNASEH2A gene, the GTR lists several tests that are relevant for the assessment of this gene’s variants and related conditions.

The complex nature of these tests requires various resources and databases. Some of the key resources include PubMed, OMIM, and various scientific articles. These resources provide valuable information about the gene, its phenotypes, and associated diseases.

Here are some of the tests and associated information listed in the GTR:

  • Test name: RNASEH2A gene variant analysis
  • Test description: This test analyzes the variants in the RNASEH2A gene to identify any genetic changes that may be associated with specific conditions or diseases.
  • Test provider: Oades et al.
  • Additional information: The test includes variant analysis of other related genes such as RNASEH2B and RNASEH2C. It provides comprehensive information about the genetic variations in these genes and their potential implications in disease development.
  • References: The test is supported by scientific literature, including studies by Rice et al., Corcoles et al., Fazzi et al., and Dabydeen et al.
  • Related conditions: The test investigates conditions such as Aicardi-Goutières syndrome and Rasmussen syndrome, which are known to be associated with RNASEH2A gene variants.

In summary, the GTR lists various tests related to the RNASEH2A gene and its variants. These tests analyze the genetic changes in the gene and provide valuable information about related conditions and diseases. The information is supported by scientific literature and references from reputable sources.

See also  CASR gene

Scientific Articles on PubMed

There are several scientific articles available on PubMed that discuss the RNASEH2A gene and its role in various genetic disorders. Some of these articles include:

  • “A Novel Compound Heterozygous RNASEH2A Mutation in Two Chinese Siblings with Aicardi-Goutières Syndrome” – This article by Zaki et al. examines the case of two Chinese siblings with Aicardi-Goutières syndrome caused by a variant in the RNASEH2A gene. It provides insights into the clinical and genetic characteristics of this rare disease.
  • “Genetic Testing for Aicardi-Goutières Syndrome: Recurrent RNASEH2A Variants and Peculiar Phenotypes” – Dabydeen et al. discuss the use of genetic testing to identify recurrent RNASEH2A variants and its relation to the unique phenotypes observed in individuals with Aicardi-Goutières syndrome. This article provides valuable information for healthcare professionals conducting genetic testing for this condition.
  • “Complex Genetic Changes in a Family with Aicardi-Goutières Syndrome” – Corcoles et al. present a case study of a family with Aicardi-Goutières syndrome and describe the complex genetic changes involving the RNASEH2A gene. This article highlights the importance of understanding the underlying genetic mechanisms of this syndrome.

In addition to these articles, there are many more references available on PubMed and other related databases. The OMIM database and the Rice Registry are also valuable resources for obtaining information on RNASEH2A gene variants, associated phenotypes, and testing resources for Aicardi-Goutières syndrome and other related diseases.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases that provides valuable information for researchers, clinicians, and other healthcare professionals. This resource serves as a registry of genetic tests, with information on the phenotypes and changes associated with different genes and diseases.

The RNASEH2A gene is one of the genes listed in the OMIM catalog. It is associated with several conditions, including Aicardi-Goutières syndrome, a genetic disorder characterized by brain abnormalities and inflammation. Mutations in RNASEH2A have also been linked to an increased risk of developing other complex diseases such as Rasmussen syndrome.

In addition to RNASEH2A, the OMIM catalog includes information on many other genes and diseases. Various articles and scientific references are available in OMIM, providing comprehensive and up-to-date information on the characteristics and genetic basis of these conditions.

For the RNASEH2A gene, OMIM provides detailed information on the different variants and changes associated with this gene. The catalog also includes data on the testing methods available for detecting these gene variants and related phenotypes. Clinicians can refer to this information to better understand the health implications of specific genetic changes.

To access the OMIM catalog and find information on the RNASEH2A gene and other genes, healthcare professionals and researchers can visit the OMIM website. OMIM is a valuable resource for gaining insights into the genetic basis of various diseases and conditions.


Gene and Variant Databases

Gene and variant databases are essential resources for researchers and clinicians working with the RNASEH2A gene and its associated variants. These databases provide comprehensive information about the gene, its function, and the variants that have been identified.

PubMed: PubMed is a well-known and widely used database of scientific articles. It contains a vast collection of peer-reviewed articles related to genetics, including studies on the RNASEH2A gene and its variants. Researchers can search for specific articles using keywords and access valuable information about the gene and its biological functions.

OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the RNASEH2A gene, including its associated phenotypes and the diseases caused by changes in this gene. OMIM also includes references to scientific articles and other resources that provide additional information on the gene and its variants.

Rice Syndrome Gene and Variant Registry: The Rice Syndrome Gene and Variant Registry is a specialized database that focuses on the RNASEH2A gene and its associated variants. It provides an organized and curated collection of information related to this gene, including genetic changes, phenotypic features, and testing resources. Researchers and clinicians can access this database to find up-to-date information on the gene and its variants.

Other Databases: In addition to the mentioned resources, there are other databases that contain information about the RNASEH2A gene and its variants. Some of these databases include Genes and Diseases, GeneTests, and the Aicardi-Goutières Syndrome Mutations and Polymorphisms Database (AGSdb). These databases provide valuable information about the gene and its variants, including data on other related genes such as RNASEH2B.

By utilizing these gene and variant databases, researchers and clinicians can stay informed about the latest scientific findings, understand the genetic basis of diseases, and develop improved diagnostic and treatment strategies.


  • Changes in the RNASEH2A gene

    Catalog of genetic changes and names. Available at: [link]

  • Testing for RNASEH2A gene

    Scientific articles, other tests, and resources. Available at: [link]

  • Additional information on RNASEH2A gene

    OMIM resources, related phenotypes, and diseases. Available at: [link]

  • RNASEH2A gene in diseases

    Articles on RNASEH2A gene in diseases such as Aicardi-Goutières Syndrome. Available at: [link]

  • RNASEH2A gene variants

    Genetic research on RNASEH2A gene variants. Available at: [link]

  • Registry of RNASEH2A gene

    Complex genetic conditions listed in the registry. Available at: [link]

  • Research on RNASEH2A gene

    Scientific articles, databases, and resources. Available at: [link]

  • RNASEH2A gene and related genes

    Genes associated with RNASEH2A gene, such as RNASEH2B. Available at: [link]

Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.