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Here are patient and mutation datasheets for all the NCL genes.
On this page there are links to information for all the NCL genes
- CLN1/PPT - Mutations generally cause NCL with onset in infancy, or any age up to adulthood.
- CLN2/TPP1 - Mutations generally cause NCL with onset in late infancy, or at later ages.
- CLN3 - Mutations cause NCL with juvenile onset, and occasionally disease of slower progression.
- CLN4/DNAJC5 - Three mutations cause autosomal dominant adult onset NCL, also known as Parry disease.
- CLN5 - Mutations generally cause NCL with onset in late infancy, or at later ages up to adulthood.
- CLN6 - Mutations generally cause NCL with onset in late infancy, or at later ages up to adulthood including Kufs type A.
- CLN7/MFSD8 - Mutations generally cause NCL with onset in late infancy, or at later ages.
- CLN8 - Mutations generally cause NCL with onset in late infancy, or a very different disease, Northern epilepsy.
- CLN10/CTSD - Mutations cause NCL with onset around birth or in early childhood, or at later ages.
- CLN11/GRN - Mutations cause disease with adult onset.
- CLN12/ATP13A2 - Mutations cause disease with juvenile onset.
- CLN13/CTSF - Mutations cause disease with adult onset, including some Kufs type B.
Mutation summary sheets have been prepared for all genes except CLN04 (too few mutations) and CLN12 (only one mutation). These can be found as a second tab on each mutation spreadsheet. These summaries contain information about the number of mutations; the type of mutation; the exon/intron location; the predicted functional effect; clinvar classification, where these data exist.
In advance of NCL 2023, a spreadsheet of each summary page can be downloaded below.
Other phenotypes described:
- CLN9 - This gene symbol is defunct, as patients described with this disease were later found to have CLN5.
- CLN14/KCTD7 - Mutations cause disease with infantile onset, however Metz et al. (2018) contend that disease caused by mutations in this gene does not have the defining features of NCL.
- CLCN6 - Single mutations have been described in two late onset NCL patients.
- SGSH - Two heterozygous mutations have been described in a single patient who was diagnosed with adult onset NCL. Mutations in this gene usually cause the more severe and unrelated disorder MPSIIIA.