COL4A5

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Haematuria

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

• Monogenic hearing loss

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

• Proteinuric renal disease

  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

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

• Cystic kidney disease

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

• Rare genetic inflammatory skin disorders

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

Disease associations (Open Targets)

• X-linked Alport syndrome

  0.85

• Alport syndrome

  0.76

• Dupuytren Contracture

  0.59

• hereditary disease

  0.54

• Hematuria

  0.53

• Proteinuria

  0.51

• nephrotic syndrome

  0.47

• focal segmental glomerulosclerosis

  0.46

• autosomal dominant Alport syndrome

  0.46

• Skin ulcer

  0.46

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

Protein function (UniProt)