GHR

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• IUGR and IGF abnormalities

  BIALLELIC, autosomal or pseudoautosomal

• Monogenic short stature

  BIALLELIC, autosomal or pseudoautosomal

• Pituitary hormone deficiency

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Familial hypercholesterolaemia

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Laron syndrome

  0.83

• short stature due to partial GHR deficiency

  0.76

• Turner syndrome

  0.60

• acromegaly

  0.60

• pituitary dwarfism

  0.60

• Growth delay

  0.59

• Prader-Willi syndrome

  0.57

• chronic kidney disease

  0.55

• gonadal dysgenesis

  0.53

• growth hormone insensitivity syndrome

  0.52

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

Protein function (UniProt)