COL1A2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ehlers Danlos syndrome with a likely monogenic cause

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Osteogenesis imperfecta

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Skeletal dysplasia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Thoracic aortic aneurysm or dissection

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

• Rare genetic inflammatory skin disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Thoracic aortic aneurysm or dissection (GMS)

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

• osteogenesis imperfecta type 2

  0.85

• osteogenesis imperfecta type 3

  0.83

• osteogenesis imperfecta type 4

  0.82

• Ehlers-Danlos syndrome, cardiac valvular type

  0.78

• Ehlers-Danlos syndrome, arthrochalasic type

  0.77

• osteogenesis imperfecta type 1

  0.77

• osteogenesis imperfecta

  0.76

• combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2

  0.74

• osteoporosis

  0.65

• Ehlers-Danlos syndrome

  0.62

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

Protein function (UniProt)