The pathogenicity of LZTR1 variants can be difficult to determine, due to the presence of a large number of apparent loss-of-function LZTR1 variants in the general population and the incomplete penetrance of disease in affected families.
Our ongoing research studies aim to improve the accuracy of genetic diagnosis and risk prediction by characterising disease-associated LZTR1 variants and assessing genotype-phenotype correlations. We also aim to differentiate the mechanism of action of variants that cause schwannomatosis versus other LZTR1-associated disorder.
LZTR1