CLN8

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Lysosomal storage disorder

  BIALLELIC, autosomal or pseudoautosomal

• Neuronal ceroid lipofuscinosis

  BIALLELIC, autosomal or pseudoautosomal

• Retinal disorders

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• CLN8 disease

  0.77

• neuronal ceroid lipofuscinosis 8

  0.76

• neuronal ceroid lipofuscinosis 8 northern epilepsy variant

  0.74

• Progressive epilepsy - intellectual disability, Finnish type

  0.72

• neuronal ceroid lipofuscinosis

  0.71

• late infantile neuronal ceroid lipofuscinosis

  0.59

• juvenile neuronal ceroid lipofuscinosis

  0.59

• hereditary disease

  0.50

• infantile neuronal ceroid lipofuscinosis

  0.46

• hypertensive disorder

  0.39

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)