PROP1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital hypothyroidism

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Hypogonadotropic hypogonadism

  BIALLELIC, autosomal or pseudoautosomal

• Hypogonadotropic hypogonadism (GMS)

  BIALLELIC, autosomal or pseudoautosomal

• IUGR and IGF abnormalities

  BIALLELIC, autosomal or pseudoautosomal

• Pituitary hormone deficiency

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Combined pituitary hormone deficiencies, genetic forms

  0.82

• combined pituitary hormone deficiencies, genetic form

  0.60

• neurodegenerative disease

  0.50

• hypopituitarism

  0.49

• hereditary disease

  0.41

• panhypopituitarism

  0.39

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

  0.38

• autosominal recessive combined pituitary hormone deficiency

  0.37

• 46,XY partial gonadal dysgenesis

  0.35

• disorder of sexual differentiation

  0.11

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

Protein function (UniProt)