C1QTNF5

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Retinal disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Glaucoma (developmental)

• Structural eye disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• late-onset retinal degeneration

  0.70

• Retinal dystrophy

  0.51

• retinitis pigmentosa

  0.41

• retinal degeneration

  0.37

• inherited retinal dystrophy

  0.37

• eye disorder

  0.37

• neurodegenerative disease

  0.26

• isolated microphthalmia 5

  0.21

• hereditary disease

  0.19

• gout

  0.16

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