CEP85L

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Early onset or syndromic epilepsy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Malformations of cortical development

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• lissencephaly 10

  0.78

• cardiomyopathy

  0.51

• atrial fibrillation

  0.50

• hypertrophic cardiomyopathy

  0.49

• Abnormality of the cardiovascular system

  0.48

• dilated cardiomyopathy

  0.47

• Lissencephaly

  0.47

• Tachycardia

  0.37

• lissencephaly 9 with complex brainstem malformation

  0.37

• Thick corpus callosum

  0.34

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

Protein function (UniProt)