LCA5

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Retinal disorders

  BIALLELIC, autosomal or pseudoautosomal

• Glaucoma (developmental)

• Non-syndromic familial congenital anorectal malformations

• Ophthalmological ciliopathies

• Primary ciliary disorders

• Rare multisystem ciliopathy disorders

• Skeletal dysplasia

• Structural eye disease

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Leber congenital amaurosis

  0.74

• Leber congenital amaurosis 5

  0.71

• Retinal dystrophy

  0.54

• retinitis pigmentosa

  0.51

• hereditary disease

  0.47

• LCA5-related retinopathy

  0.40

• Stargardt disease

  0.39

• severe early-childhood-onset retinal dystrophy

  0.38

• eye disorder

  0.37

• response to xenobiotic stimulus

  0.35

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

Protein function (UniProt)

Diseases associated with LCA5

Curated MONDO disease pages that list LCA5 among their top associated genes.

• Leber congenital amaurosisRare
• Stargardt diseaseRare