CLN6

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset neurodegenerative disorder

  BIALLELIC, autosomal or pseudoautosomal

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  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

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Disease associations (Open Targets)

• ceroid lipofuscinosis, neuronal, 6B (Kufs type)

  0.83

• CLN4A disease

  0.81

• CLN6 disease

  0.78

• ceroid lipofuscinosis, neuronal, 6A

  0.77

• neuronal ceroid lipofuscinosis

  0.71

• infantile neuronal ceroid lipofuscinosis

  0.46

• hereditary disease

  0.45

• Abnormality of the nervous system

  0.44

• adult neuronal ceroid lipofuscinosis

  0.38

• juvenile neuronal ceroid lipofuscinosis 6

  0.37

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