CRYAA

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Bilateral congenital or childhood onset cataracts

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• DDG2P

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Structural eye disease

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Cataract-microcornea syndrome

  0.78

• cataract 9 multiple types

  0.75

• nuclear cataract

  0.60

• Developmental cataract

  0.56

• early-onset non-syndromic cataract

  0.53

• Total congenital cataract

  0.40

• Anterior polar cataract

  0.40

• early-onset nuclear cataract

  0.40

• cataract - microcornea syndrome

  0.39

• microphthalmia

  0.39

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

Protein function (UniProt)