LHX4

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital hypothyroidism

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hypogonadotropic hypogonadism

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• IUGR and IGF abnormalities

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Pituitary hormone deficiency

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hypogonadotropic hypogonadism (GMS)

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

Disease associations (Open Targets)

• Short stature - pituitary and cerebellar defects - small sella turcica

  0.72

• short stature-pituitary and cerebellar defects-small sella turcica syndrome

  0.71

• Combined pituitary hormone deficiencies, genetic forms

  0.64

• neurodegenerative disease

  0.53

• combined pituitary hormone deficiencies, genetic form

  0.38

• hypopituitarism

  0.38

• pituitary stalk interruption syndrome

  0.37

• Abnormal cerebellum morphology

  0.37

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

  0.37

• hereditary disease

  0.34

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

Protein function (UniProt)