PCDH15

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

  0.77

• Usher syndrome type 1

  0.75

• Usher syndrome type 1F

  0.74

• autosomal recessive nonsyndromic hearing loss 23

  0.67

• hearing loss, autosomal recessive

  0.61

• Rare genetic deafness

  0.53

• deafness

  0.52

• Retinal dystrophy

  0.52

• nonsyndromic deafness

  0.44

• alcohol drinking

  0.43

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

Protein function (UniProt)

Diseases associated with PCDH15

Curated MONDO disease pages that list PCDH15 among their top associated genes.

• ovarian neoplasmRare
• ovarian dysfunctionRare
• Usher syndromeRare
• Usher syndrome type 1Rare