CTSF

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset neurodegenerative disorder

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  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

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Retinal disorders

  BIALLELIC, autosomal or pseudoautosomal

• Severe microcephaly

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• neuronal ceroid lipofuscinosis 13

  0.79

• CLN13 disease

  0.67

• adult neuronal ceroid lipofuscinosis

  0.62

• neuronal ceroid lipofuscinosis

  0.51

• Abnormality of the skeletal system

  0.50

• hereditary disease

  0.47

• bipolar disorder

  0.40

• CLN4A disease

  0.38

• asthma

  0.35

• ulcerative colitis

  0.34

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

Protein function (UniProt)