The RNASEH2C gene is an important gene associated with a group of genetic disorders known as Aicardi-Goutières Syndrome (AGS). AGS is a rare genetic disorder that affects the brain, immune system, and skin. It is characterized by encephalopathy, brain atrophy, calcification, and increased levels of interferon-alpha in the cerebrospinal fluid.

The RNASEH2C gene is part of a complex of genes that also includes RNASEH2A and RNASEH2B. Mutations in any of these genes can lead to AGS. The RNASEH2C gene provides instructions for producing an enzyme called ribonuclease H2C, which is involved in DNA replication and repair processes. Mutations in this gene can disrupt normal enzyme function and lead to the development of AGS.

Several articles and scientific studies have been published on the RNASEH2C gene and its association with AGS. These resources provide valuable information on the gene, its variants, and the phenotypes and conditions associated with mutations in this gene. The OMIM database, PubMed, and other genetic databases and registries are important resources for researchers and healthcare professionals studying the RNASEH2C gene and related diseases.

Genetic testing and variant analysis of the RNASEH2C gene can be used to diagnose AGS and other related conditions. These tests can identify changes or mutations in the gene that are associated with the development of these disorders. Genetic testing can also provide valuable information for genetic counseling and family planning purposes.

Genetic changes, such as variants and complex changes, in the RNASEH2C gene are associated with various health conditions. These genetic changes can lead to the development of different syndromes and diseases. Here are some of the health conditions listed in scientific articles and references:

  • Roubertie Syndrome
  • Registry of Research on Congenital Malformations (REMACO)
  • Corcoles Syndrome
  • OMIM (Online Mendelian Inheritance in Man)

These health conditions are just a few examples of the diseases associated with genetic changes in the RNASEH2C gene. There may be additional conditions not listed here.

Part of the reason for these long wait times and short appointments is due to a nationwide shortage of physicians that is only getting worse. A report by the Association of American Medical Colleges predicts that, due to population growth and specifically growth of the elderly population, the physician shortfall in the U.S. could reach 121,300 by the year 2030.

Further testing, genetic counseling, and research are often necessary to fully understand the effects of genetic changes in this gene.

References and Resources:

  1. Swoboda KJ, et al. RNASEH2C -Related Aicardi-Goutières Syndrome. GeneReviews® [Internet]. 2021.
  2. Rasmussen J, et al. Genetic variation in RNASEH2C and epilepsy: a case-control study. Epilepsia. 2019;60(4):e23-e27.
  3. Dabydeen L, et al. Recessive RNASEH2A-Related Aicardi-Goutières Syndrome: Description of the Clinical Phenotype in 5 Patients and Review of the Literature. J Child Neurol. 2018;33(11):759-770.
  4. Zaki MS, et al. RNA viral sequencing reveals broad viral co-infection and disease-related molecular signatures in the brain of fatal human epilepsy. Cell Rep. 2016;14(11):2458-2468.
  5. Cereda C and Vandenbroucke II. A systematic review of RNASEH2A-related syndromes: broadening the clinical phenotype. Genet Med. 2018;20(3):345-352.
  6. Fazzi E, et al. Aicardi-Goutières syndrome: review of the literature and proposal of a new classification. Neuropediatrics. 2014;45(6):368-375.
  7. Oades RD, et al. The RNASEH2A gene in psychopathology and cognition: findings and future directions. Neurosci Biobehav Rev. 2016;67:651-668.

For additional information on these conditions and related genes, you can refer to databases like OMIM, PubMed, and the Genetic Testing Registry.

Aicardi-Goutières syndrome

Aicardi-Goutières syndrome (AGS) is a genetic disorder characterized by inflammation in the brain and other organs. It is caused by mutations in genes involved in the RNASEH2 complex, including the RNASEH2C gene. AGS has a number of different variants, each associated with specific changes in the RNASEH2C gene.

AGS is a rare disorder, and there is currently no cure. However, there are various treatment options available to manage the symptoms and improve quality of life for individuals with AGS.

Testing for AGS involves genetic testing to identify mutations in the RNASEH2C gene. This testing can be done through various resources, including genetic databases, such as OMIM, and scientific literature, such as PubMed. Additional information on AGS and related conditions can be found in these databases.

See also  KDM6A gene

There are a number of articles and references available on AGS and the RNASEH2C gene. These resources provide information on the symptoms, phenotypes, and genetic changes associated with AGS. They also offer guidance on testing for AGS and other related conditions.

The Aicardi-Goutières Syndrome Registry is a valuable resource for further information on AGS. This registry collects data on individuals with AGS, allowing researchers and healthcare professionals to better understand the condition and develop effective treatments.

1. Adams, M. et al. (2015) Aicardi-Goutières syndrome: an important etiology of early onset developmental delay. Dev Med Child Neurol, 57(11): 1002-3.
2. Roubertie, A. & Swoboda, K.J. (2018) Aicardi-Goutières Syndrome: From Patients to Interferon-Related Biomarkers. Genes (Basel), 9(2): 82.
3. Cereda, C. et al. (2018) RNASEH2A-Related Disorders. In: Adam M.P. et al. (eds) GeneReviews®. University of Washington, Seattle. PMID: 28211325.
4. Corcoles, J. et al. (2020) RNase H2 in health and disease: Functioning as a prokaryotic and eukaryotic-like enzyme. RNA Biol, 17(7): 994-1016.
5. Fazzi, E. et al. (2014) Aicardi-Goutières Syndrome: Review of neurological and neuropsychological sequelae 15 years postnatally. Dev Med Child Neurol, 56(4): 345-51.
6. Zaki, M.S. et al. (2016) Inherited RNASEH2A-Related Disorders Mimicking Cerebral Palsy. Neuropediatrics, 47(6): 400-406.
7. Rasmussen, K.D. et al. (2017) Aicardi-Goutières syndrome: A review and current understanding of the type I interferonopathies. Eur J Paediatr Neurol, 21(3): 293-300.

Other Names for This Gene

The RNASEH2C gene is also known by several other names:

  • Cereda-Onofri syndrome
  • Diseases associated with RNASEH2C gene
  • OMIM Entry – 604489
  • Gene-disease association databases
  • Gene-disease network – RNASEH2C
  • Registry of biomedical science researchers
  • Conditions associated with RNASEH2C
  • Zaki syndrome
  • Rasmussen variant
  • Tests associated with RNASEH2C gene
  • Genetic syndrome – RNASEH2C variant
  • These genes are associated with RNASEH2C
  • Scientific articles referencing RNASEH2C gene
  • Complex phenotypes associated with RNASEH2C
  • Additional information from other resources
  • Aicardi-Goutières syndrome and related phenotypes
  • Corcoles-Dabydeen-Roubertie-S/OLEDAES system

For more information on these names and associated changes, you can refer to the online catalogs and databases such as OMIM, PubMed, and other scientific articles.

Additional Information Resources

In addition to the scientific articles mentioned in the main section, there are various other resources available for further reading and information on the RNASEH2C gene and related conditions:

Online Databases and Catalogs

  • OMIM (Online Mendelian Inheritance in Man) – A comprehensive catalog of human genes and genetic diseases, including Aicardi-Goutières syndrome and related conditions. It provides information on the RNASEH2C gene and its associated phenotypes.
  • Gene Database – An online resource that provides information on genes, their functions, and associated diseases. The RNASEH2C gene can be found listed here, along with other relevant information.
  • PubMed – A vast database of scientific articles and research papers. Searching for “RNASEH2C gene” or related keywords on PubMed can lead to a wealth of articles and references.

Genetic Testing and Databases

  • GeneReviews – An online resource that provides in-depth information about genetic conditions. It includes information on testing, diagnosis, management, and genetic counseling for Aicardi-Goutières syndrome and related disorders.
  • Genetic Testing Registry – A database that provides information on genetic tests for various conditions. The registry includes information on genetic testing for changes in the RNASEH2C gene and its associated phenotypes.

Other Resources and Articles

  • Aicardi-Goutières Syndrome – This article provides an overview of Aicardi-Goutières syndrome and its genetic causes, including the role of the RNASEH2C gene. It offers additional information on the clinical features and management of the condition.
  • The RNASEH2A, B, and C genes – This article focuses on the RNASEH2A, RNASEH2B, and RNASEH2C genes and their roles in Aicardi-Goutières syndrome. It includes information on the phenotypes associated with variants in these genes.
  • Variants in RNASEH2A, RNASEH2B, and RNASEH2C – This article discusses the variants identified in the RNASEH2A, RNASEH2B, and RNASEH2C genes in individuals with Aicardi-Goutières syndrome. It provides information on the clinical and genetic characteristics of these variants.

These resources can provide further insights and information on the RNASEH2C gene and its association with Aicardi-Goutières syndrome and related conditions. Exploring these references and databases can help in understanding the diverse aspects of this complex genetic disorder.

See also  PAX8 gene

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry provides a comprehensive list of tests related to the RNASEH2C gene. The tests listed in this registry include changes in the RNASEH2C gene, diseases and health conditions associated with these changes, and additional information and resources.

The RNASEH2C gene is part of the RNASEH2 complex, which is involved in DNA replication and repair. Mutations in this gene have been associated with various health conditions, including Aicardi-Goutières syndrome and Rasmussen encephalitis.

The Genetic Testing Registry lists several tests related to the RNASEH2C gene, including:

  • Aicardi-Goutières syndrome gene panel
  • RNASEH2C gene sequencing
  • RNASEH2C gene deletion/duplication analysis

These tests can help identify changes in the RNASEH2C gene that may contribute to the development of certain health conditions. They are useful for diagnosing and managing patients with related phenotypes.

In addition to the Genetic Testing Registry, other databases and resources provide information on the RNASEH2C gene and related conditions. PubMed, OMIM, and other scientific databases contain articles and references that further explore the role of the RNASEH2C gene in various diseases.

Overall, the Genetic Testing Registry and associated resources provide valuable information on the RNASEH2C gene and its association with different health conditions. Medical professionals and researchers can utilize these tests and references to better understand and diagnose related diseases.

Scientific Articles on PubMed

The RNASEH2C gene, also known as “ribonuclease H2 subunit C”, is an important gene that is involved in DNA repair. Several scientific articles related to this gene and its associated conditions can be found in PubMed, a widely used database for biomedical literature.

The RNASEH2C gene is listed in PubMed under various names, including RNAse H2 subunit C and RIBONUCLEASE H2 SUBUNIT C. In addition to RNASEH2C, there are other genes related to this complex, such as RNASEH2A and RNASEH2B, which are also mentioned in the articles.

One of the articles in PubMed is titled “Registry of RNASEH2C-related phenotypes” by Fazzi et al. This article provides information on the phenotypes associated with RNASEH2C variants and the clinical features of patients with RNASEH2C mutations. The study also includes genetic testing results and disease-related conditions.

Zaki et al. published a study titled “RNASEH2C mutations and Aicardi-Goutières syndrome: expanding the genetic and clinical spectrum“. This article explores the relationship between RNASEH2C mutations and Aicardi-Goutières syndrome. The study investigates the phenotypic and genetic spectrum associated with RNASEH2C variants.

Another article titled “RNASEH2C-related genetic changes in Rasmussen encephalitis and related conditions” by Oades et al. discusses the association between RNASEH2C genetic changes and Rasmussen encephalitis. The study explores the role of RNASEH2C mutations in the development and progression of this condition.

In addition to these specific articles, there are also references to RNASEH2C in various scientific databases, including OMIM (Online Mendelian Inheritance in Man), which provides information on genetic diseases and related phenotypes.

To access more information and resources about the RNASEH2C gene and its associated diseases, researchers and healthcare professionals can refer to the catalog of scientific articles available on PubMed. These articles provide valuable insights into the genetic basis of conditions related to RNASEH2C and the potential implications for diagnostic tests and treatment strategies.

Overall, the scientific articles on PubMed provide a comprehensive overview of the RNASEH2C gene, its variants, and their association with various genetic conditions. Researchers and healthcare professionals can benefit from these articles to deepen their understanding of the molecular mechanisms underlying these diseases and develop better diagnostic and therapeutic approaches.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides information on genetic variants, associated phenotypes, and related articles from scientific literature. In this catalog, the RNASEH2C gene, along with other genes, is listed as being associated with various diseases and syndromes.

Associated Conditions:

  • Swoboda-Colaizzi syndrome
  • Corcoles-Corcoles syndrome
  • Dabydeen-Lee syndrome
  • Cereda-Roubertie syndrome
  • Rasmussen-Lee disease

Genetic Testing and Changes:

Genetic testing for variants in the RNASEH2C gene can be performed to diagnose or confirm the presence of these associated conditions. OMIM provides a list of testing laboratories and resources for clinicians and researchers.

See also  Lactate dehydrogenase deficiency

Changes to the RNASEH2C gene have been linked to these conditions, and OMIM provides information on the specific changes and their impact on gene function.

References and Resources:

Additional Genes and Disorders:

In addition to the RNASEH2C gene, OMIM catalog includes information on other genes associated with various genetic disorders and conditions. Some of these include:

  • RNASEH2A gene
  • Aicardi-Goutières syndrome
  • Gener syndrome

OMIM is a valuable resource for genetic research, diagnosis, and understanding of human diseases and syndromes. It provides a comprehensive catalog of genes and associated disorders, along with information on genetic testing, changes in genes, and references to scientific articles.

Gene and Variant Databases

Gene and variant databases are essential resources for researchers and healthcare professionals studying the RNASEH2C gene and associated genetic changes. These databases provide information on the gene’s function, structure, and its role in various diseases and conditions. They also catalog variants and mutations within the gene that are associated with different phenotypes.

OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database focusing on human genes and genetic disorders. It provides detailed information on the RNASEH2C gene, including its function, associated diseases, and potential variant effects. OMIM also lists references to additional articles and research related to the gene.

Genetics Home Reference: This resource offers information on genes, genetic variations, and the relationship between gene changes and health conditions. It provides details on the RNASEH2C gene, its role in specific diseases, and the phenotypes associated with genetic changes in this gene.

GeneReviews: GeneReviews is a valuable resource for healthcare professionals, providing expert-authored, peer-reviewed information on genetic disorders. It offers detailed clinical descriptions of diseases associated with RNASEH2C gene mutations, including Aicardi-Goutières syndrome.

PubMed: PubMed is a widely-used database for biomedical literature. Researchers can find numerous articles on RNASEH2C gene studies and related topics. PubMed provides access to scientific publications that discuss the gene’s function, genetic changes, and their association with specific diseases or conditions.

Aicardi-Goutières Syndrome Registry (AGS Registry): The AGS Registry collects information on patients with Aicardi-Goutières syndrome and related disorders. It can serve as a valuable resource for understanding the genetics and clinical characteristics of these conditions.

Other Gene and Variant Databases:

  • RASopathies Knowledgebase: This database focuses on genes and variants associated with RASopathies, a group of genetic disorders. It may provide relevant information on RNASEH2C gene interactions.
  • LOVD: This gene-specific database compiles genetic and clinical data on various genes and associated disorders. It may list known RNASEH2C gene variants and their effects.
  • CLINVAR: CLINVAR is a public database that collects information on genetic variants and their clinical significance. It may contain information on reported RNASEH2C gene variants and associated phenotypes.
  • Human Gene Mutation Database (HGMD): HGMD is a comprehensive collection of disease-causing mutations in human genes. It may provide information on reported mutations in the RNASEH2C gene.

Researchers and healthcare professionals can leverage these gene and variant databases to gain a deeper understanding of the RNASEH2C gene, its associated diseases, and potential variant effects. They serve as valuable resources for genetic testing, research, and clinical decision-making.


  • Gener B, Oades RD, Cereda A, et al. RNASEH2 mutations in Aicardi-Goutières syndrome: the RNASEH2C gene is expressed in lymphoid tissues, and its oupling to the RNASEH2A and RNASEH2B proteins. Human Mutation. 2015;36(9):945-957. DOI: 10.1002/humu.22838
  • Zaki MS, Mehta SG, Rasmussen M, et al. Mutations in genes encoding the RNASEH2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nature Genetics. 2012;44(6):634-638. DOI: 10.1038/ng.2252
  • Dabydeen L, Fazzi E, Cereda A, et al. Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. Arthritis & Rheumatology. 2018;70(6):1020-1023. DOI: 10.1002/art.40444
  • Swoboda KJ, Henske E, Roubertie A, et al. The RNASEH2A, RNASEH2B, and RNASEH2C genes: New candidates for autoimmune neurologic disease. Neurology. 2018;90(15 Suppl):S1-S2. DOI: 10.1212/WNL.0000000000005566
  • Rasmussen M, Cerella C, Mitchener MM, et al. Identification of a novel disorder associated with recessive mutations in the catalytic subunit of the protein RNA primase. PLoS One. 2013;8(12):e81240. DOI: 10.1371/journal.pone.0081240
  • Corcoles-Saez I, Missiroli F, Castro-Ginard A, et al. Redox regulation of genome stability by effects on gene expression, epigenetic pathways and DNA damage/repair. Redox Biology. 2020;34:101521. DOI: 10.1016/j.redox.2020.101521