COL6A3

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

  BIALLELIC, autosomal or pseudoautosomal

• 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

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Congenital muscular dystrophy, Ullrich type

  0.77

• dystonia 27

  0.76

• Bethlem myopathy

  0.76

• Bethlem myopathy 1C

  0.75

• Bethlem myopathy 1A

  0.72

• Ullrich congenital muscular dystrophy 1A

  0.70

• Ullrich congenital muscular dystrophy

  0.68

• Ullrich congenital muscular dystrophy 1C

  0.68

• collagen 6-related myopathy

  0.61

• Dupuytren Contracture

  0.59

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

Protein function (UniProt)