CRYBB3

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

  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

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Anterior polar cataract

  0.74

• early-onset non-syndromic cataract

  0.61

• cataract

  0.50

• Developmental cataract

  0.40

• early-onset anterior polar cataract

  0.37

• early-onset nuclear cataract

  0.37

• microphthalmia

  0.34

• hereditary disease

  0.19

• COVID-19

  0.09

• response to antihypertensive drug

  0.07

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

Protein function (UniProt)