The RERE gene helps guide early development, especially in the brain, eyes, ears, heart, and kidneys. This gene plays an important role in turning other genes on and off at the right time as a baby grows. If the RERE gene does not work properly, a person may have developmental delay, learning problems, changes in vision or hearing, and sometimes birth differences affecting organs such as the heart or kidneys. The effects can vary widely from one person to another.
What is a gene?
Genes are stretches of DNA that carry instructions your cells use to make molecules or regulate activities in the body. Some genes provide the code for proteins, which do much of the work inside cells. Others mainly control when, where, and how strongly certain activities happen. Together, genes affect how the body grows and works, and they can shape how you respond to food, stress, or medications. For a deeper look at this topic, you can find more in the LearnHub.
Overview
REREGene function
What if the gene works
The RERE gene helps control how other genes switch on and off during early development. This supports normal growth of the brain, eyes, heart, and other organs.
Risk
What if the gene does not work
Variants that reduce how well the RERE gene works can cause developmental delay or intellectual disability, often with speech and movement differences. Effects range from milder learning issues to broader developmental conditions, sometimes with eye, hearing, heart, or kidney differences.
Treatment
What does that mean for your treatment
No RERE-specific treatment or drug selection approach is currently established for pathogenic variants in the RERE gene. Care is supportive and guided by a person’s symptoms, while RERE is still mainly being studied in developmental pathways and some cancer research rather than used to guide current prescribing.
Conditions associated with RERE
Gene function
What if the gene works
During growth, cells use the RERE gene to follow important instructions in an orderly way. Rather than building tissues itself, it works like a control helper that adjusts how other genes are used. This is especially important early in life, when cells are choosing their roles and forming tissues.
The RERE gene helps control when other genes are turned on and how active they are. This keeps important growth programs coordinated inside the cell.
One of its main roles is to help cells respond to retinoic acid, a signal made from vitamin A. This supports the RERE gene’s role in early development and tissue formation.
The RERE gene supports the steps that help immature cells become more specialized. This helps developing tissues form with the right cell types in the right places.
Its protein helps coordinate body patterning, which means placing tissues and structures in an organized layout during early growth. This gives developing organs clear location signals.
What is a variant?
A genetic variant is a minor difference in the DNA sequence within a gene. These differences are common and are part of normal human diversity, including variation in appearance, metabolism, or the way the body reacts to environmental influences. Many do not have any noticeable effect and simply represent natural genetic variation. Sometimes, though, a variant changes how a gene works to a greater extent and may contribute to, or directly cause, a genetic condition.
Genetic variants
What if the gene does not work
Variants in the RERE gene often reduce how well the RERE protein can regulate other genes during early development, which is central to how RERE gene variants affect protein function. Some changes likely leave partial activity, while more disruptive variants can sharply lower protein stability or stop the protein from working at all. This range of effects can influence how strongly development is altered and, in some people, how early or noticeable related features appear.
How variants are linked to conditions
Pathogenic variants in the RERE gene cause a RERE-related neurodevelopmental condition, often described as neurodevelopmental disorder with or without brain, eye, or heart differences. Common features include developmental delay, learning difficulties, autism features, seizures, vision or hearing problems, and congenital heart differences. In discussions of conditions linked to RERE gene variants, this is the main well-established association, and a confirmed pathogenic variant can support the diagnosis.
A variant is not necessarily a diagnosis
Gene variants are a usual part of human biology and are common across the general population. Most do not have a direct effect on health and simply contribute to natural human diversity. For many genes, having a variant associated with a condition indicates a possible link rather than a definite diagnosis, especially when several genes and environmental factors play a role. In some situations, though, a single well characterized variant in a particular gene can be enough to confirm a diagnosis.
Are there things that can increase or change my risk?
There isn't broadly confirmed evidence on specific factors that increase or reduce health risk related to the RERE gene. For many living with a disease-causing change in RERE, the main factor is the genetic change itself rather than lifestyle or environment, and a doctor or genetic counselor can help explain personal and family risk.
Inheritance of RERE variants
RERE-related conditions are usually inherited in an autosomal dominant pattern, which means a child can be affected if they inherit one altered copy of the RERE gene. If a parent carries a disease-causing RERE variant, each child has a 50% chance of inheriting it. In many families, though, RERE gene inheritance does not come from either parent because the variant appears new (de novo) in the child. This means a person may have a RERE-related condition even with no family history.
What does my RERE result mean for my family?
A harmful change in the RERE gene is usually linked to a dominant condition, so close relatives such as parents, brothers, sisters, and children may also carry the same change and may want to discuss testing. In many families, the change happens for the first time in the affected person, so it is not always inherited from a parent. If a parent does carry the same RERE change, each child has a 50% chance of inheriting it.
Genetic information
Genetic testing
How you find out about variants
Genetic testing for RERE variants usually analyzes DNA from a blood sample or saliva. Labs often use sequencing, sometimes with deletion and duplication analysis, to look for changes linked to a person’s features or symptoms. Results may identify a pathogenic variant, a benign finding, or a variant of uncertain significance.
When should I consider getting a genetic test?
Consider RERE genetic testing if a child has unexplained developmental delay, low muscle tone, vision or hearing problems, or birth differences affecting the heart, brain, or kidneys. It can also help when a similar pattern runs in the family or a change in the RERE gene was already found in a relative.
A genetic result is only one part of your health story
Genetic test results can provide useful insight, but how much they explain varies based on the condition and the type of variant present. Lifestyle, environment, age, and medical history are also among the factors that shape how the body works over time. In some conditions, especially those influenced by many genes, genetic information gives context rather than certainty and is most useful when considered alongside other parts of care. In other situations, a genetic result can offer a clear answer. In areas like medication response, genetic results can also help make sense of individual experiences.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how people respond to medicines. Small differences in DNA can change how the body breaks down a drug, moves it through the bloodstream, or responds to it at its target. This helps explain why the same treatment works well for one person, works less well for another, or causes more side effects in someone else. These differences are common and are one part of the larger picture, along with age, liver and kidney function, other medicines, and overall health.
What is Pharmacogenetics?
Pharmacogenetics examines how inherited genetic differences can shape a person’s response to medications. It studies links between genes and drugs to help explain why the same treatment may work differently from one person to another. For many medicines, genes can affect how strongly a drug works or how the body handles it. 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 RERE gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding medicine choices, so any questions about symptoms, side effects, or treatment changes are best discussed with your doctor.
History
RERE entered medical genetics through research on early development and chromosome 1p36, a region already known to matter in birth differences and later health outcomes. In recent decades, awareness of this gene’s role has grown as sequencing studies connected RERE variants with a recognizable pattern of developmental and physical features. Initially understood only through visible traits, later recognized as tied to a specific gene, this shift helped doctors move from broad chromosome findings to a more precise diagnosis. Building on this early work, scientists uncovered more about the range of features linked to RERE. That history reflects a wider change in genetics, from describing patterns in children and families to identifying the exact gene involved.