PRPF8

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, NOT imprinted

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Retinal disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Glaucoma (developmental)

• Structural eye disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• retinitis pigmentosa

  0.81

• Retinal dystrophy

  0.56

• autosomal dominant retinitis pigmentosa

  0.46

• retinal disorder

  0.41

• hereditary disease

  0.41

• eye disorder

  0.37

• complex neurodevelopmental disorder

  0.37

• dengue disease

  0.37

• neurodegenerative disease

  0.34

• clonal hematopoiesis

  0.32

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

Protein function (UniProt)