NCL Disease


Mutation and Patient Database

This database set up in 1998 contains published mutations and sequence variations in genes that cause NCL together with unpublished data included with permission.

There are two tables for each human NCL disease gene - Patient Datasheets list all published or reported patients and families, and the Mutation Datasheets list all published or reported mutations, cross-referenced to the patient table. In the latest updates, we are no longer recording sequence variants that are benign polymorphisms. The datasheets are available to view or download as excel files for off-site use to aid local needs or interests (e.g. sorting according to occurrence in particular countries) and the date of their last update indicated. The database follows the mutation nomenclature recommendations of the Human Genome Variation Society.

Click here for the mutation and patient database.

The database is protected by copyright and database rights. It is freely accessible and can be reproduced if proper reference is made to the database and its contributors.

Many of the lesions present in this database are included in others, including the European Bioinformatics Institute Sequence Variation Database, the Cardiff-based Human Gene Mutation Database, the UK Diagnostic Mutation Database (DMuDB) and the Human Genome Variation Database. These are good sources of sequence variants but may not contain unpublished mutations.

To submit new mutations or family details or to correct existing entries please contact Sara Mole.

This new database format is possible due to the considerable efforts of Maria Kousi in 2011, Varun Warrier and Mariana Vieira in 2012, and Emily Gardner from 2017. Anne Polvi helped in expanding these further in 2012 and in establishing the LOVD-version of this gene variant database. Biomarin provides financial assistance to maintain this site and these databases.