COL4A2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset leukodystrophy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Adult onset neurodegenerative disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Early onset or syndromic epilepsy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Familial cerebral small vessel disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Malformations of cortical development

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

• porencephaly 2

  0.73

• familial porencephaly

  0.65

• intracerebral hemorrhage

  0.62

• porencephaly

  0.61

• Dupuytren Contracture

  0.59

• brain small vessel disease 1 with or without ocular anomalies

  0.54

• coronary artery disorder

  0.52

• coronary atherosclerosis

  0.49

• myocardial infarction

  0.49

• stroke disorder

  0.47

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

Protein function (UniProt)

Diseases associated with COL4A2

Curated MONDO disease pages that list COL4A2 among their top associated genes.

• coronary atherosclerosisRare
• ischemic strokeRare