OTX2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Anophthalmia or microphthalmia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Congenital hypothyroidism

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Deafness and congenital structural abnormalities

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• IUGR and IGF abnormalities

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Ocular coloboma

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

• syndromic microphthalmia type 5

  0.82

• pituitary hormone deficiency, combined, 6

  0.65

• Combined pituitary hormone deficiencies, genetic forms

  0.56

• anophthalmia-microphthalmia syndrome

  0.55

• agnathia-otocephaly complex

  0.47

• Anophthalmia

  0.47

• major depressive disorder

  0.42

• mathematical ability

  0.41

• Retinal dystrophy

  0.41

• hereditary disease

  0.41

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

Protein function (UniProt)