COL11A2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Clefting

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• DDG2P

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Monogenic hearing loss

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Skeletal dysplasia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Stickler syndrome

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Glaucoma (developmental)

• Intellectual disability

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• otospondylomegaepiphyseal dysplasia, autosomal dominant

  0.80

• otospondylomegaepiphyseal dysplasia, autosomal recessive

  0.77

• autosomal recessive nonsyndromic hearing loss 53

  0.76

• otospondylomegaepiphyseal dysplasia

  0.73

• autosomal dominant nonsyndromic hearing loss 13

  0.73

• fibrochondrogenesis 2

  0.71

• Stickler syndrome type 3

  0.66

• fibrochondrogenesis

  0.60

• Dupuytren Contracture

  0.59

• autosomal dominant nonsyndromic hearing loss

  0.57

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

Protein function (UniProt)