COL4A4

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Haematuria

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Proteinuric renal disease

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Unexplained kidney failure in young people

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Cystic kidney disease

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Monogenic hearing loss

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Disease associations (Open Targets)

• autosomal recessive Alport syndrome

  0.82

• hematuria, benign familial, 1

  0.79

• Hematuria

  0.78

• Alport syndrome

  0.77

• Benign familial neonatal seizures

  0.70

• autosomal dominant Alport syndrome

  0.65

• Dupuytren Contracture

  0.59

• Abnormality of the urinary system

  0.57

• hereditary disease

  0.54

• hematuria, benign familial

  0.51

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

Protein function (UniProt)

Diseases associated with COL4A4

Curated MONDO disease pages that list COL4A4 among their top associated genes.

• glomerulonephritisRare