OAT

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Hyperammonaemia

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Retinal disorders

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

• Glaucoma (developmental)

• Skeletal dysplasia

• Structural eye disease

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• ornithine aminotransferase deficiency

  0.84

• Gyrate atrophy of choroid and retina

  0.84

• Hyperornithinemia

  0.53

• Retinal dystrophy

  0.52

• eye disorder

  0.37

• glomerulonephritis

  0.29

• Pain

  0.27

• optic atrophy

  0.27

• Abnormal choroid morphology

  0.27

• Visual field defect

  0.27

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

Protein function (UniProt)