CAPN5

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Retinal disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• proliferative vitreoretinopathy

  0.65

• CAPN5-related vitreoretinopathy

  0.51

• hereditary disease

  0.42

• Retinal dystrophy

  0.19

• occult macular dystrophy

  0.12

• severe early-childhood-onset retinal dystrophy

  0.12

• chronic obstructive pulmonary disease

  0.03

• hepatocellular carcinoma

  0.03

• epilepsy

  0.03

• acquired thrombocytopenia

  0.03

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

Protein function (UniProt)