OCLN

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Intracerebral calcification disorders

  BIALLELIC, autosomal or pseudoautosomal

• Malformations of cortical development

  BIALLELIC, autosomal or pseudoautosomal

• Structural basal ganglia disorders

  BIALLELIC, autosomal or pseudoautosomal

• White matter disorders and cerebral calcification - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

+4 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• Congenital intrauterine infection-like syndrome

  0.79

• hypertensive disorder

  0.41

• Increased blood pressure

  0.35

• neurodegenerative disease

  0.34

• nodular goiter

  0.33

• Primary microcephaly

  0.26

• Global developmental delay

  0.26

• Cerebral calcification

  0.26

• nephrolithiasis

  0.21

• cervical carcinoma

  0.21

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

Protein function (UniProt)