POC1B

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Retinal disorders

  BIALLELIC, autosomal or pseudoautosomal

• Neurological ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Ophthalmological ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Rare multisystem ciliopathy disorders

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Cone rod dystrophy

  0.77

• Retinal dystrophy

  0.51

• cone-rod dystrophy

  0.50

• Rod-cone dystrophy

  0.46

• autosomal recessive cone rod dystrophy

  0.44

• Hodgkins lymphoma

  0.34

• Rare pervasive developmental disorder

  0.27

• coronary artery disorder

  0.26

• Joubert syndrome

  0.26

• enteritis

  0.24

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

Protein function (UniProt)