TSHB

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital hypothyroidism

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• isolated thyroid-stimulating hormone deficiency

  0.75

• congenital hypothyroidism

  0.37

• Pituitary hypothyroidism

  0.33

• hereditary disease

  0.19

• Abnormality of the skeletal system

  0.14

• chronic intestinal vascular insufficiency

  0.08

• vein disorder

  0.07

• Headache

  0.07

• migraine disorder

  0.06

• hypothyroidism

  0.06

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

Protein function (UniProt)