CRB1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Retinal disorders

  BIALLELIC, autosomal or pseudoautosomal

• Structural eye disease

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Cerebral vascular malformations

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Glaucoma (developmental)

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Ophthalmological ciliopathies

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Disease associations (Open Targets)

• Leber congenital amaurosis 8

  0.84

• retinitis pigmentosa 12

  0.84

• Leber congenital amaurosis

  0.74

• pigmented paravenous retinochoroidal atrophy

  0.74

• retinitis pigmentosa

  0.72

• Macular dystrophy

  0.60

• Retinal dystrophy

  0.58

• hereditary macular dystrophy

  0.55

• Leber congenital amaurosis 1

  0.55

• autosomal recessive retinitis pigmentosa

  0.52

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

Protein function (UniProt)

Diseases associated with CRB1

Curated MONDO disease pages that list CRB1 among their top associated genes.

• Leber congenital amaurosisRare