COL2A1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Bilateral congenital or childhood onset cataracts

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Clefting

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Limb disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Monogenic hearing loss

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Retinal disorders

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Skeletal dysplasia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• spondyloepiphyseal dysplasia congenita

  0.83

• Stickler syndrome type 1

  0.83

• achondrogenesis type II

  0.82

• Kniest dysplasia

  0.79

• platyspondylic dysplasia, Torrance type

  0.79

• spondyloepimetaphyseal dysplasia, Strudwick type

  0.78

• Achondrogenesis type 2

  0.78

• spondyloperipheral dysplasia

  0.78

• familial avascular necrosis of femoral head

  0.76

• spondyloepiphyseal dysplasia, Stanescu type

  0.75

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

Protein function (UniProt)

Diseases associated with COL2A1

Curated MONDO disease pages that list COL2A1 among their top associated genes.

• connective tissue disorderRare