COL12A1

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

• 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

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Osteogenesis imperfecta

• Skeletal dysplasia

Disease associations (Open Targets)

• Bethlem myopathy 2

  0.79

• Ullrich congenital muscular dystrophy 2

  0.71

• Bethlem myopathy

  0.62

• Abnormality of the skeletal system

  0.54

• Congenital muscular dystrophy, Ullrich type

  0.47

• Ullrich congenital muscular dystrophy

  0.46

• keratoconus

  0.44

• hereditary disease

  0.34

• stroke disorder

  0.29

• alcohol drinking

  0.29

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

Protein function (UniProt)