SOX3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Fetal anomalies

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• IUGR and IGF abnormalities

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Pituitary hormone deficiency

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Intellectual disability

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Congenital hypothyroidism

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Familial hypoparathyroidism

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Hypogonadotropic hypogonadism

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

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Disease associations (Open Targets)

• Non-acquired isolated growth hormone deficiency

  0.72

• panhypopituitarism, X-linked

  0.63

• panhypopituitarism

  0.62

• neurodegenerative disease

  0.55

• X-linked intellectual disability with isolated growth hormone deficiency

  0.48

• Septo-optic dysplasia

  0.38

• 46,XX testicular disorder of sex development

  0.38

• Sex reversal

  0.37

• X-linked congenital generalized hypertrichosis

  0.37

• familial isolated hypoparathyroidism due to agenesis of parathyroid gland

  0.19

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

Protein function (UniProt)