COL4A6

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Monogenic hearing loss

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Haematuria

• Intellectual disability

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Unexplained kidney failure in young people

Disease associations (Open Targets)

• Dupuytren Contracture

  0.59

• X-linked nonsyndromic hearing loss

  0.51

• Skin ulcer

  0.46

• eye disorder

  0.43

• Peyronie disease

  0.38

• palmar fibromatosis

  0.37

• sarcoidosis

  0.37

• Abnormality of connective tissue

  0.37

• ulcer disease

  0.37

• bacterial infectious disease

  0.37

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

Protein function (UniProt)