We are studying a larger cohort of patients with pathogenic SPOP variants and have established this website to further collect detailed clinical and molecular information of additional individuals with NSDVS1 and NSDVS2. We aim to delineate the clinical spectrum and natural history of these rare genetic disorders and are currently performing functional validation of the pathogenicity of novel variants.
Clinicians who identify a patient with a (likely) pathogenic variant in the SPOP gene are invited to contact us and to submit the clinical and molecular information to the website’s database.
Thank you in advance for your collaboration.
SPOP LoF