COL6A1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Congenital muscular dystrophy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Congenital myopathy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Ehlers Danlos syndrome with a likely monogenic cause

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Intellectual disability

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Bethlem myopathy 1A

  0.82

• Ullrich congenital muscular dystrophy 1A

  0.79

• Bethlem myopathy

  0.76

• Congenital muscular dystrophy, Ullrich type

  0.75

• collagen 6-related myopathy

  0.62

• Dupuytren Contracture

  0.59

• hereditary disease

  0.50

• diverticular disease

  0.49

• Abnormality of the musculature

  0.46

• Skin ulcer

  0.46

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

Protein function (UniProt)