COL3A1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Bleeding and platelet disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Cerebral vascular malformations

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Ehlers Danlos syndrome with a likely monogenic cause

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Familial cerebral small vessel disease

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Malformations of cortical development

  BIALLELIC, autosomal or pseudoautosomal

• Pneumothorax - familial

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Thoracic aortic aneurysm or dissection

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Ehlers-Danlos syndrome, vascular type

  0.86

• polymicrogyria with or without vascular-type Ehlers-Danlos syndrome

  0.79

• autosomal dominant Ehlers-Danlos syndrome, vascular type

  0.71

• familial thoracic aortic aneurysm and aortic dissection

  0.60

• Ehlers-Danlos syndrome

  0.59

• Dupuytren Contracture

  0.59

• Rare disease with thoracic aortic aneurysm and aortic dissection

  0.56

• Familial hemophagocytic lymphohistiocytosis

  0.53

• Abnormality of the cardiovascular system

  0.52

• Skin ulcer

  0.46

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

Protein function (UniProt)