CLRN1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Monogenic hearing loss

  BIALLELIC, autosomal or pseudoautosomal

• Retinal disorders

  BIALLELIC, autosomal or pseudoautosomal

• Glaucoma (developmental)

• Primary ciliary disorders

• Rare multisystem ciliopathy disorders

• Skeletal dysplasia

• Structural eye disease

  BIALLELIC, autosomal or pseudoautosomal

• Thoracic dystrophies

Disease associations (Open Targets)

• Usher syndrome type 3A

  0.78

• retinitis pigmentosa

  0.78

• Usher syndrome type 3

  0.70

• Usher syndrome

  0.67

• Retinal dystrophy

  0.63

• Rare genetic deafness

  0.51

• neuronal ceroid lipofuscinosis

  0.48

• hearing loss disorder

  0.37

• eye disorder

  0.37

• Hearing impairment

  0.35

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

Protein function (UniProt)

Diseases associated with CLRN1

Curated MONDO disease pages that list CLRN1 among their top associated genes.

• Usher syndromeRare