CRYGS

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Bilateral congenital or childhood onset cataracts

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Structural eye disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• Total congenital cataract

  0.72

• Cataract with Y-shaped suture opacities

  0.64

• early-onset non-syndromic cataract

  0.61

• early-onset sutural cataract

  0.37

• retinitis pigmentosa

  0.37

• Developmental cataract

  0.33

• hereditary disease

  0.19

• Posterior polar cataract

  0.12

• early-onset zonular cataract

  0.12

• Partial congenital cataract

  0.12

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

Protein function (UniProt)