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NCL Disease

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Mutation and Patient Datasheets for Human NCL genes

Here are patient and mutation datasheets for all the NCL genes.

On this page there are links to information for all the NCL genes, and to a summary table for all the 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.
  • CLN14/KCTD7 - Mutations cause disease with infantile onset.
  • CLN9 - This gene symbol is used for NCL with onset in the juvenile age range that is not CLN3 disease.
  • 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 .