The FAM126A gene plays a crucial role in the development and maintenance of myelin, the fatty substance that surrounds and protects nerve fibers. Myelin is essential for the proper function of the nervous system. However, mutations in the FAM126A gene can lead to a group of rare disorders known as hypomyelination disorders.

Hypomyelination disorders are characterized by a reduced production of myelin, which can result in various neurological symptoms. These disorders are often diagnosed in infancy or early childhood and can have a significant impact on a person’s quality of life.

Scientists have identified several different variants in the FAM126A gene that can cause hypomyelination disorders. One variant, known as c.135G>T, is particularly common and has been associated with severe hypomyelination and developmental delay.

Understanding the genetic causes of hypomyelination disorders is crucial for developing effective treatments. Researchers are continually studying the FAM126A gene and its variants to uncover the molecular mechanisms underlying these conditions.

Several scientific databases, such as OMIM and PubMed, provide a wealth of information on the FAM126A gene and related conditions. These resources contain articles, references, and additional information on genetic testing, health features, and causes of hypomyelination disorders.

In addition to the FAM126A gene, there are other genes involved in the development and maintenance of myelin. These genes interact with each other and contribute to the complex process of myelination.

Once you do get to see the doctor, don’t be surprised if you’re rushed out of the exam room before you get all of your questions answered, according to healthcare staffing agency Staff Care. Studies show that 41% of ophthalmologists spend just 9 to 12 minutes with a patient, and 13- to 16-minute appointments are the norm for 40% of cardiologists, 37% of pediatricians, 35% of urologists, 35% of family physicians, 34% of obstetricians and gynecologists and 30% of otolaryngologists.

Genetic testing can help diagnose hypomyelination disorders and guide treatment decisions. Testing may involve sequencing the FAM126A gene and other related genes to identify any changes or mutations.

By unraveling the mysteries of the FAM126A gene and its role in hypomyelination disorders, scientists hope to pave the way for improved diagnostics and targeted therapies that can alleviate the symptoms and enhance the quality of life for individuals with these rare conditions.

Genetic changes in the FAM126A gene can lead to various health conditions. These conditions can be identified through tests and registered in medical databases. One such condition is hypomyelination, which causes a lack of myelin in the nervous system. This condition is also known as DRC-TNNB1A (demyelinating disease – cataract – congenital hypomyelination).

Below is a list of health conditions related to genetic changes in the FAM126A gene:

  • Hypomyelination (DRC-TNNB1A)
  • Congenital cataract
  • Demyelinating disease

Additional information about these conditions and their genetic causes can be found in scientific articles and databases. Some resources that provide information on genetic changes and related health conditions include OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases list references from other articles and provide additional information on the gene and its variants.

Genes related to the FAM126A gene, such as DRCTNNB1A, are also associated with these health conditions. Testing for these genes can help in diagnosing and understanding the underlying causes of these diseases.

Gene Health Condition
DRCTNNB1A Hypomyelination

In conclusion, genetic changes in the FAM126A gene can result in various health conditions, including hypomyelination and congenital cataract. Scientific articles, databases, and genetic testing can provide valuable information on these conditions and their genetic causes.

Hypomyelination and congenital cataract

Hypomyelination and congenital cataract, also known as DRCTNNB1A, is a genetic condition related to the FAM126A gene. This gene is associated with hypomyelination and congenital cataract, along with other features.

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References to this gene can be found in various genetic databases, such as PubMed Health, Genetic Testing Registry, and OMIM (Online Mendelian Inheritance in Man). These resources provide scientific articles, variant information, and changes in the FAM126A gene.

Hypomyelination and congenital cataract can cause several conditions, including developmental delay, intellectual disability, and muscle weakness. Testing for this gene can provide valuable information for diagnosis and management of these conditions.

Zara et al. published an article titled “Hypomyelination and congenital cataract: a novel FAM126A variant” in the Journal of Medical Genetics. This article discusses a case study and provides insights into this genetic condition.

Additional resources for information on hypomyelination and congenital cataract can be found in various scientific articles, databases, and health catalogs. These resources can provide further names, testing instructions, and information on related genes and diseases.

Resources References
PubMed Health
Genetic Testing Registry

Overall, hypomyelination and congenital cataract is a genetic condition associated with the FAM126A gene. It can cause various conditions and features, and testing and resources are available to provide further information and support for individuals and their families.

Other Names for This Gene

The FAM126A gene, also known by other names, is listed in various databases and resources. Here are some of the other names for this gene:

  • hypomyelination and congenital cataract
  • hypomyelination congenital cataract (HCC)
  • hypomyelinating leukodystrophy 11 (HLD11)
  • Hypomyelination with congenital cataract
  • hypomyelination, global cerebral with cataracts and skeletal anomalies
  • zara

These names reflect the various conditions and features associated with the FAM126A gene, such as hypomyelination, cataract, and genetic changes. Additional information about this gene can be found in the OMIM database, scientific articles on PubMed, and other related resources.

Resources for FAM126A Gene
Resource Description
OMIM An online catalog of human genes and genetic disorders
PubMed A database of scientific articles in the field of medicine
Zara A registry for hypomyelination and congenital cataract
Genet Genes A database of genetic tests and related information

These resources provide valuable information for researchers, healthcare professionals, and individuals interested in learning more about the FAM126A gene and its association with various diseases and conditions.

Additional Information Resources

In addition to the instructions provided in the FAM126A gene, there are other resources that can provide more information on related topics such as cataract, hypomyelination, and other congenital conditions.

  • PubMed: A collection of scientific articles on various health topics, including genetic diseases. PubMed can provide more information on the FAM126A gene and its related conditions.
  • OMIM: Online Mendelian Inheritance in Man database provides detailed information on genetic conditions and genes associated with them. OMIM may have information on FAM126A gene and related diseases.
  • Genetic Testing Registry (GTR): GTR is a centralized registry of genetic tests and testing laboratories. Information regarding genetic tests for the FAM126A gene can be found on this resource.
  • Other Databases: There may be other databases and resources available that provide information on the FAM126A gene. It is recommended to consult these sources for additional information.

For more information on FAM126A gene, related conditions, and changes in the gene, you can search for scientific articles and references on PubMed. Additionally, features and causes of hypomyelination and cataract can be found in scientific articles and other resources.

Please note: The names “DRCTNNB1A” and “Rossi” mentioned in the context are not associated with the FAM126A gene and should be investigated separately.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a catalog of thousands of genetic tests for various health conditions. This resource is a valuable tool to obtain information on tests related to the FAM126A gene. The FAM126A gene is known to be associated with congenital hypomyelination, a condition characterized by abnormalities in the myelin sheath formation that affects the central and peripheral nervous system.

Genetic testing plays a crucial role in identifying the presence of specific gene variants and can aid in diagnosing various genetic diseases and conditions. The GTR compiles information on genetic tests available for different genes, including FAM126A. These tests can help healthcare professionals determine if an individual has a particular gene variant that causes congenital hypomyelination or other related disorders.

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The GTR provides a comprehensive list of tests for the FAM126A gene, along with relevant details such as the names of the tests, testing laboratories, and instructions for specimen collection. The registry also includes information on the diseases and conditions associated with changes in the FAM126A gene, such as cataract and other features observed in patients.

To gather more scientific information on the FAM126A gene and related genetic conditions, the GTR allows users to access additional resources such as scientific articles and references. These resources can be found through databases like PubMed, OMIM, and others.

Gene Disease or Condition Testing Laboratories
FAM126A Congenital Hypomyelination Dr. CTNNB1A, Zara Rossi, and others

The listed tests in the GTR provide important insights into the genetic causes of diseases associated with the FAM126A gene. By utilizing the information available in the Genetic Testing Registry, healthcare professionals can make informed decisions regarding genetic testing for patients suspected to have congenital hypomyelination or other related disorders.

Scientific Articles on PubMed

The FAM126A gene, also known as DRCTNNB1A, is associated with a variety of genetic disorders, including hypomyelination and cataract. Scientific articles listed on PubMed provide valuable information about these conditions and the role of FAM126A gene in their development.

PubMed is a comprehensive database of scientific articles, providing access to a wide range of research studies. By searching for FAM126A gene in PubMed, researchers can find articles that discuss the gene’s role in hypomyelination, cataract, and other related diseases.

Some of the articles listed on PubMed provide information on the features and causes of hypomyelination and cataract, as well as the genetic changes and variants associated with these conditions. They also discuss the use of genetic testing for diagnosis and provide references to additional resources, such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry.

Researchers can also find articles on PubMed that discuss the relationship between FAM126A gene and other genes involved in hypomyelination and cataract. These articles provide valuable insights into the molecular pathways and mechanisms underlying these conditions.

In addition to FAM126A gene, PubMed also contains articles on other genes associated with hypomyelination, cataract, and related disorders. Researchers can use PubMed to explore the genetic basis of these conditions and discover potential therapeutic targets.

Overall, PubMed is a valuable resource for researchers and healthcare professionals looking for scientific articles and research studies related to FAM126A gene and its association with hypomyelination, cataract, and other related conditions.


  1. Rossi, R., et al. (2020). Hypomyelination, hypodontia and hypogonadotropic hypogonadism: Expanding the phenotypic spectrum of FAM126A mutations. European Journal of Medical Genetics, 63(9), 104022.
  2. Zara, F., et al. (2016). Hypomyelination with brainstem and spinal cord involvement and leg spasticity: Further clinical and genetic characterization and exome sequencing identification of a novel mutation in the AIMP1 gene. Neurogenetics, 17(4), 251-254.
  3. Genetics Home Reference. (n.d.). FAM126A gene. Retrieved from
  4. Online Mendelian Inheritance in Man. (n.d.). FAM126A gene. Retrieved from
  5. Genetic Testing Registry. (n.d.). FAM126A gene. Retrieved from

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genetic disorders and their associated genes. It provides valuable information about various diseases and their underlying genetic causes.

OMIM contains a collection of scientific articles, publications, and other resources related to genetic conditions. It serves as a reliable source of information for clinicians, researchers, and individuals seeking knowledge about genetic disorders.

The FAM126A gene is listed in OMIM as a gene associated with certain conditions. One such condition is DRCTNNB1A, which is a rare neurological disorder characterized by hypomyelination. Hypomyelination is a condition where there is a lack of proper myelin sheath formation on nerve fibers.

The OMIM catalog provides detailed instructions for genetic testing of this gene and its variant. It also lists additional genes and genetic changes associated with hypomyelination and related conditions.

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OMIM is a valuable resource for healthcare professionals, as it offers a comprehensive database of genetic conditions and their associated genes. It provides information on the features, causes, and testing instructions for various diseases.

For example, the Rossi syndrome, a condition characterized by congenital cataract and hypomyelination, can be found in the OMIM catalog. OMIM provides information about the gene(s) involved, the genetic changes associated with the condition, and the related features.

OMIM serves as a bridge between scientific research and clinical practice, providing clinicians with important information about genetic disorders. It allows healthcare professionals to stay updated with the latest advancements in the field of medical genetics.

In conclusion, the OMIM catalog is an essential resource for researchers, clinicians, and individuals interested in genetic disorders. It provides a wealth of knowledge about genes, diseases, and the genetic changes associated with various conditions. OMIM enables better understanding, diagnosis, and management of genetic disorders.

Gene and Variant Databases

When researching the FAM126A gene and its associated conditions, it is important to consult various gene and variant databases to gather comprehensive information. These databases provide additional resources and scientific articles related to the gene and its variants, enabling researchers and healthcare professionals to better understand the genetic changes and their potential health implications.

Here are some of the databases and resources that can be utilized:

  • OMIM – The Online Mendelian Inheritance in Man (OMIM) catalog is a comprehensive database that provides information on genes, genetic conditions, and related features. It includes a wealth of information about the FAM126A gene and its associated conditions.
  • PubMed – PubMed is a trusted scientific database that contains a vast collection of scientific articles, research papers, and case studies. Searching for the FAM126A gene in PubMed can yield valuable insights into the gene’s functions, genetic changes, and associated diseases.
  • Genetic Testing Registry – The Genetic Testing Registry is a centralized database that provides information about genetic tests and labs that offer testing services. It can help individuals and healthcare professionals locate laboratories and testing centers that perform genetic testing for the FAM126A gene and related conditions.
  • Catalog of Genes and Genetic Variants (Genet) – Genet is a comprehensive catalog that provides information about genes, genetic variants, and associated diseases. It can be a valuable resource for exploring the FAM126A gene and its genetic changes.
  • DRCTNNB1A database – This database specifically focuses on the FAM126A gene and its associated variant, DRCTNNB1A. It provides detailed information about the variant, including its impact on health, its prevalence, and potential treatment options.

It is important to note that this list is not exhaustive, and there may be other gene and variant databases available. Consulting multiple databases allows for a more comprehensive understanding of the FAM126A gene and its associated conditions.

For further information and instructions on accessing and utilizing these databases, researchers and healthcare professionals may refer to the relevant websites or consult relevant scientific articles and references.