CTSA

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset leukodystrophy

  BIALLELIC, autosomal or pseudoautosomal

• Adult onset neurodegenerative disorder

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Fetal hydrops

  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)

• galactosialidosis

  0.84

• cathepsin a-related arteriopathy-strokes-leukoencephalopathy

  0.46

• hereditary disease

  0.45

• Lysosomal disease

  0.37

• Lynch syndrome

  0.34

• Non-immune hydrops fetalis

  0.27

• Abnormality of prenatal development or birth

  0.27

• coronary artery disorder

  0.17

• prostate carcinoma

  0.13

• breast carcinoma

  0.12

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

Protein function (UniProt)