CRYAB

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

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Distal myopathies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Dilated and arrhythmogenic cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Dilated Cardiomyopathy and conduction defects

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Paediatric or syndromic cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Arthrogryposis

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

• fatal infantile hypertonic myofibrillar myopathy

  0.74

• myofibrillar myopathy 2

  0.74

• dilated cardiomyopathy 1II

  0.72

• Alpha-B crystallin-related late-onset distal myopathy

  0.63

• Posterior polar cataract

  0.62

• cataract 16 multiple types

  0.62

• Partial congenital cataract

  0.60

• familial isolated dilated cardiomyopathy

  0.44

• Developmental cataract

  0.42

• early-onset non-syndromic cataract

  0.40

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

Protein function (UniProt)

Diseases associated with CRYAB

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

• early-onset zonular cataractRare