The Mutation and Patient Database since 2018

Find out about changes to the database

Since 2018, we have taken a different approach to collating patient and mutation information. During the preparation of a research paper (submitted Dec18), the contents of the cln2 sheets were analysed in detail. We found duplicate entries of both patient and mutation information, which we have corrected. We also decided that normal genetic variants (polymorphisms) would not be captured in the mutation database; there are hundreds of these recorded in other online sources (e.g. dbSNP, ClinVar) and there did not seem to be a compelling reason to retain these in our records. For the patient database, we are now focussing on atypical disease presentation, novel mutations, and reports from countries with low representation.

In 2019, the contents of the database were migrated to a new platform at UCL.

Summaries can be found on the datasheet for each gene. For patient data, these are at the top of the datasheet. For mutation data, these are on a separate tab.