POU1F1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital hypothyroidism

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  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

• Intellectual disability

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Monogenic hearing loss

• Monogenic short stature

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• pituitary hormone deficiency, combined, 1

  0.82

• Combined pituitary hormone deficiencies, genetic forms

  0.74

• combined pituitary hormone deficiencies, genetic form

  0.60

• hereditary disease

  0.41

• isolated growth hormone deficiency type II

  0.38

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

  0.38

• prostate carcinoma

  0.38

• congenital hypothyroidism

  0.37

• prostate cancer

  0.34

• intestinal disorder

  0.28

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

Protein function (UniProt)