This website provides information on the IQSEC2 gene, changes that can alter the gene’s function and IQSEC2-related disorders, including management advice and possible research options.

The IQSEC2 gene is an important gene contributing to the development and function of neurons (brain cells) in the brain.

IQSEC2-related disorders are a range of neurocognitive disorders that develop when the IQSEC2 gene is unable to function properly.

A number of different gene changes have been found to cause IQSEC2-related disorder. Changes which affect the gene’s ability to function are sometimes referred to as mutations or pathogenic variants. The specific gene change identified is usually recorded on the report from the testing laboratory.

IQSEC2-related disorder is characterised by intellectual disability, autism, behavioural problems, mental health problems and seizures. Not all people with a change in the IQSEC2 gene have all these features. Some gene changes seem to cause more significant disability than others. IQSEC2-related disorders can affect both males and females; however, some females can inherit the gene change, but have no symptoms.

This website was created to collect and share information about the IQSEC2 gene between family members, clinicians and researchers. The aim is to increase knowledge about the gene, features of IQSEC2-related disorders over the lifespan, and optimal management of this condition, in order to better support affected individuals, their families and clinicians.

Dr. Tracy Dudding-Byth, Clinical Geneticist, NSW Genetics of Learning Disability Service Australia, Grow Up Well Priority Research Centre, University of Newcastle, Hunter Medical Research Centre, Newcastle, Australia,

Cheryl Shoubridge, Associate Professor, Human Genetics Researcher, Intellectual Disability Research Group, Robinson Research Institute at the University of Adelaide, Australia,

Jackie Boyle, Genetic Counsellor / Clinical Nurse Consultant, NSW Genetics of Learning Disability Service, Australia,

Dr. Emma Palmer, Clinical Geneticist, NSW Genetics of Learning Disability Service Australia,

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