HESX1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital hypothyroidism

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• DDG2P

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Intellectual disability

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• IUGR and IGF abnormalities

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Pituitary hormone deficiency

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Hypogonadotropic hypogonadism

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Monogenic short stature

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

+1 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• septooptic dysplasia

  0.82

• Combined pituitary hormone deficiencies, genetic forms

  0.81

• Septo-optic dysplasia

  0.76

• pituitary hormone deficiency, combined, 1

  0.48

• combined pituitary hormone deficiencies, genetic form

  0.47

• hereditary disease

  0.47

• Kallmann syndrome

  0.38

• pituitary stalk interruption syndrome

  0.38

• hypothyroidism due to deficient transcription factors involved in pituitary development or function

  0.38

• Male infertility with spermatogenesis disorder

  0.27

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

Protein function (UniProt)