CTSD

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

• Fetal anomalies

  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

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Disease associations (Open Targets)

• neuronal ceroid lipofuscinosis 10

  0.76

• CLN10 disease

  0.73

• neuronal ceroid lipofuscinosis

  0.70

• CLN1 disease

  0.58

• Congenital neuronal ceroid lipofuscinosis

  0.57

• neurodegenerative disease

  0.50

• infantile neuronal ceroid lipofuscinosis

  0.47

• lysosomal storage disease

  0.37

• juvenile neuronal ceroid lipofuscinosis 10

  0.37

• late infantile neuronal ceroid lipofuscinosis 10

  0.37

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

Protein function (UniProt)