This website provides information on patients with changes in the POLR2A gene (OMIM # 180660), including clinical data, molecular data, and management options. The syndrome caused by changes in the POLR2A gene is a multisystem disorder characterized by muscular, neurological, and behavioural abnormalities as well as a range of other symptoms. Individuals who are heterozygous for de novo variants in the POLR2A gene have recently been associated with Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioural Abnormalities, abbreviated to NEDHIB.

Not all individuals with a change in the POLR2A gene have these features.

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 changes in the POLR2A gene.

Suzanne Lewis, MD, FCCMG, FRCPC, The University of British Columbia, BC Children’s and Women’s Health Center, British Columbia, Canada, Suzanne.Lewis@ubc.ca

Kristina Calli, Project Manager, Children's & Women's Health Centre of British Columbia, British Columbia, Canada, kcalli@mail.ubc.ca

Sydney Schulz, Research Assistant, MSc. Candidate Genetic Counselling, The University of British Columbia, Children's & Women's Health Centre of British Columbia, British Columbia, Canada, Sydney.schulz1@bcchr.ca