CRYBA1

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

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Structural eye disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• Cataract with Y-shaped suture opacities

  0.75

• Posterior polar cataract

  0.69

• early-onset non-syndromic cataract

  0.68

• hereditary disease

  0.41

• cataract

  0.40

• early-onset nuclear cataract

  0.40

• early-onset posterior polar cataract

  0.37

• early-onset sutural cataract

  0.37

• type 2 diabetes mellitus

  0.31

• major depressive disorder

  0.29

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

Protein function (UniProt)

Diseases associated with CRYBA1

Curated MONDO disease pages that list CRYBA1 among their top associated genes.

• early-onset non-syndromic cataractRare