CRYBB1

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)

• early-onset non-syndromic cataract

  0.68

• early-onset nuclear cataract

  0.56

• Cataract-microcornea syndrome

  0.38

• cataract - microcornea syndrome

  0.38

• pulverulent cataract

  0.37

• alcohol drinking

  0.36

• neurodegenerative disease

  0.35

• Developmental cataract

  0.29

• bacterial arthritis

  0.21

• adverse effect

  0.21

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

Protein function (UniProt)

Diseases associated with CRYBB1

Curated MONDO disease pages that list CRYBB1 among their top associated genes.

• early-onset non-syndromic cataractRare