The WDR24 gene helps cells sense nutrient levels and switch on signals that support normal growth and energy balance. If it does not work properly, cells may have trouble coordinating growth and cleanup processes. This gene plays an important role in a pathway called mTOR, which helps guide brain and body development. Rare pathogenic variants in both copies of the WDR24 gene can cause a neurodevelopmental condition that may include developmental delay, seizures, and other nervous system features.
What is a gene?
Genes are stretches of DNA that provide information your cells use to make molecules or regulate processes in the body. Some genes hold the instructions for making proteins, which are the working parts of cells. Other genes mainly help control when certain processes happen, where they happen, and how strongly they occur. Together, genes affect how the body develops and works, and they can influence how you respond to food, stress, or medications. For a deeper look at this topic, you can find more in LearnHub.
Overview
WDR24Gene function
What if the gene works
The WDR24 gene helps cells sense nutrient levels and adjust growth signals through the mTOR pathway. This supports protein production, energy use, and the recycling process cells use to stay balanced.
Risk
What if the gene does not work
Milder to more severe variants in the WDR24 gene can reduce how well cells sense amino acids and switch on mTORC1, a pathway that helps control cell growth. This may weaken signaling at the lysosome and disrupt normal cell recycling.
Treatment
What does that mean for your treatment
No WDR24-specific treatment or drug choice is currently established for people with pathogenic or loss-of-function variants in the WDR24 gene. The WDR24 gene is being studied in the mTOR cell growth pathway, but this has not yet led to guideline-based, gene-directed care.
Gene function
What if the gene works
Your cells use the WDR24 gene to link nutrient supply with everyday growth and internal recycling. It helps a protein group relay amino acid signals to mTORC1, a key control system for cell activity. This core WDR24 gene function supports steady day to day cell function across many tissues.
WDR24 helps relay signals about amino acid supply. As part of a protein group called GATOR2, it helps mTORC1 respond when nutrients are available.
When nutrients are present, WDR24 supports mTORC1 activity that helps cells make proteins and grow at an appropriate pace. This helps match cell work to available energy and building materials.
WDR24 also helps coordinate autophagy (the cell’s recycling process) with nutrient conditions. This lets cells shift between building new material and reusing older parts in a controlled way.
What is a variant?
A genetic variant is a slight difference in the DNA sequence of a gene. These differences are common and are part of normal human diversity, including variation in appearance, metabolism, and how the body responds to environmental influences. Many variants do not have any noticeable effect and simply represent natural genetic variation. In some cases, though, a variant can change how a gene works more substantially and may contribute to or directly cause a genetic condition.
Genetic variants
What if the gene does not work
Variants in the WDR24 gene can change the protein’s shape, stability, or ability to join a protein group that helps cells sense nutrients, which helps explain how WDR24 gene variants affect cell signaling. Milder variants may leave some activity in place, while more severe variants can cause almost complete loss of function. This can weaken mTORC1 signaling (a pathway that helps control cell growth) and disrupt lysosomes and autophagy (the cell’s cleanup and recycling system).
How variants are linked to conditions
At this point, the WDR24 gene does not yet have a broadly confirmed link to a specific health condition, although research on WDR24 gene variants and health conditions is still developing. Some reported findings are still being clarified and have not led to a widely accepted gene-condition pairing used in routine care. Anyone with a confirmed variant in the WDR24 gene should rely on guidance from their doctor or genetic counselor for interpretation.
A variant is not necessarily a diagnosis
Variants in genes are a normal part of human biology and are widely seen in the general population. Most do not have a direct effect on health and simply reflect natural human diversity. For many genes, carrying a variant associated with a condition suggests a possible link rather than a definite diagnosis, especially when several genes and environmental factors both contribute. In some situations, though, one well understood variant in a particular gene is enough to confirm a diagnosis.
Are there things that can increase or change my risk?
There is not yet broadly confirmed evidence on specific factors that increase or reduce health risk related to the WDR24 gene. If a change in WDR24 has been found in you or your family, a doctor or genetic counselor can help explain what it may mean for your personal risk.
Inheritance of WDR24 variants
For the rare conditions linked to the WDR24 gene, the inheritance pattern is autosomal recessive. This means a child usually inherits one WDR24 gene variant from each parent. Parents who each carry one variant are often unaffected themselves. With each pregnancy, there is a 25% chance the child will inherit both variants, a 50% chance the child will carry one variant, and a 25% chance the child will inherit neither. This is the main pattern described for how WDR24 gene variants are inherited.
What does my WDR24 result mean for my family?
There is not yet a broadly confirmed inheritance pattern tied to a specific well-established condition for WDR24, and this picture may become clearer as research grows. If you have a specific WDR24 result, the meaning for parents, children, brothers, sisters, and other relatives depends on the exact change found and the health issue being considered.
Genetic information
Genetic testing
How you find out about variants
To find out whether you carry a change in the WDR24 gene, doctors use genetic testing with a blood or saliva sample. WDR24 genetic testing works by reading your DNA and checking for variants, often through a broader gene panel or exome test. Results may show a benign variant, a variant of uncertain significance, or a disease-causing variant.
When should I consider getting a genetic test?
There is not yet a broadly established reason to test the WDR24 gene on its own in routine care. Decisions about genetic testing are usually based on the full picture, such as unexplained symptoms, developmental concerns, or family history, and are best made with a doctor or genetic counselor.
A genetic result is only one part of your health story
Genetic test findings can provide useful insight, but how much they reveal depends on the condition and the type of variant involved. Many factors, including lifestyle, environment, age, and medical history, influence how the body functions over time. For some conditions, especially those affected by many genes, genetic information provides context rather than certainty and is best considered alongside other parts of care. In other situations, a genetic result may offer a clear answer. In areas such as medication response, genetic results can also help place personal experiences in context.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how people respond to medicines. Small differences in genes can change how the body absorbs, breaks down, transports, or responds to a drug. This helps explain why the same treatment works well for one person, seems weaker for another, or causes more side effects in someone else. These differences are common and are one part of why medication response varies from person to person.
What is Pharmacogenetics?
Pharmacogenetics examines how genetic differences can shape a person’s response to medicines. It studies links between genes and medications to clarify why the same treatment may work differently from one person to another. For many drugs, genes influence how the body handles a medicine or how strong its effects are. This information can support more informed and more individualized treatment decisions. More detail on this topic is available in the LearnHub.
Drugs influenced by the WDR24 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in how medicines work, so general concerns about treatment, side effects, or new symptoms are best discussed with your doctor. If a medicine is making you feel unwell or is not helping as expected, your doctor can look at the full picture and decide what to do next.