This website provides information on patients with mutations in the LZTR1 gene, including clinical data, molecular data, management and research options.

The syndromes caused by mutations in the LZTR1 gene are multisystem disorders characterized by

(a) Noonan syndrome (MIM 163950) – A developmental disorder characterised by coarse facial features, heart defects, delayed growth and short stature.
(b) Schwannomatosis – A tumour predisposition disorder that causes multiple benign tumours that can develop anywhere within the nervous system.

Not all individuals with a mutation in the LZTR1 gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the LZTR1 gene.

Miriam J Smith, PhD, The University of Manchester & Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester, UK, miriam.smith@manchester.ac.uk.

D Gareth Evans, MD, The University of Manchester & Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester, UK, gareth.evans@mft.nhs.uk