CPAMD8

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Glaucoma (developmental)

  BIALLELIC, autosomal or pseudoautosomal

• Structural eye disease

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Familial ocular anterior segment mesenchymal dysgenesis

  0.74

• anterior segment dysgenesis

  0.53

• cataract

  0.46

• Ocular anterior segment dysgenesis

  0.40

• glaucoma

  0.38

• retinal detachment

  0.37

• Juvenile glaucoma

  0.35

• lens disorder

  0.34

• eye disorder

  0.31

• Abnormal anterior eye segment morphology

  0.27

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