RTN4IP1

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

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Optic neuropathy

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• Retinal disorders

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Disease associations (Open Targets)

• Autosomal recessive isolated optic atrophy

  0.67

• neurodegenerative disease

  0.52

• hereditary disease

  0.45

• optic atrophy

  0.39

• Retinal dystrophy

  0.38

• dermatophytosis

  0.22

• facial morphology

  0.16

• Abnormality of the gastrointestinal tract

  0.16

• placenta praevia

  0.16

• Global developmental delay

  0.15

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

Protein function (UniProt)