This website provides information on patients with mutations in the THOC2 gene, including clinical data, molecular data, management and research options.

THOC2 is an important gene contributing to the development and function of neurons (brain cells). THOC2-related disorders are a range of neurocognitive disorders that develop when the THOC2 gene is unable to function properly.

A number of different gene changes have been found to cause THOC2-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.

THOC2-related disorders are characterised by developmental delay/intellectual disability. Variable additional features can be present for example neurological conditions and growth disorders. Not all individuals with a mutation in the THOC2 gene have all these features.

THOC2-related disorder typically affects males. Most females who inherit a THOC2 gene change have no symptoms.

This website was created to share and collect information about clinical, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the THOC2 gene.

Dr. Raman Kumar, PhD, School of Medicine, The Robinson Research Institute, The University of Adelaide, North Adelaide, SA 5005, Australia, raman.sharma@adelaide.edu.au

Professor Jozef Gecz, PhD, School of Medicine, The Robinson Research Institute, The University of Adelaide, North Adelaide, SA 5005, Australia, jozef.gecz@adelaide.edu.au

Dr. (Elizabeth) Emma Palmer, MD, Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Sydney, Australia, Elizabeth.palmer1@health.nsw.gov.au

Dr. Michael Field, PhD, Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia, Sydney, Australia, Mike.field@health.nsw.gov.au

Ms. Jackie Boyle, Genetic Counsellor and Clinical Nurse Consultant, Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Sydney, Australia, Jackie.Boyle@hnehealth.nsw.gov.au