CRYBB2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Bilateral congenital or childhood onset cataracts

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Structural eye disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• Cataract-microcornea syndrome

  0.78

• Total congenital cataract

  0.61

• Cataract with Y-shaped suture opacities

  0.61

• pulverulent cataract

  0.57

• Developmental cataract

  0.45

• cataract

  0.42

• early-onset nuclear cataract

  0.40

• cataract - microcornea syndrome

  0.39

• cerulean cataract

  0.37

• total early-onset cataract

  0.37

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

Protein function (UniProt)

Diseases associated with CRYBB2

Curated MONDO disease pages that list CRYBB2 among their top associated genes.

• early-onset zonular cataractRare