PRKAR1A

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Carney complex

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Childhood solid tumours

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Childhood solid tumours cancer susceptibility

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Congenital hypothyroidism

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Endocrine neoplasia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

+12 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• Carney complex, type 1

  0.81

• Acrodysostosis 1 with or without hormone resistance

  0.80

• Carney complex

  0.76

• acrodysostosis

  0.68

• pigmented nodular adrenocortical disease, primary, 1

  0.66

• familial atrial myxoma

  0.63

• amelogenesis imperfecta type 1G

  0.56

• hereditary neoplastic syndrome

  0.54

• Inherited cancer-predisposing syndrome

  0.54

• cancer

  0.52

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

Protein function (UniProt)