PEX12

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset leukodystrophy

  BIALLELIC, autosomal or pseudoautosomal

• Arthrogryposis

  BIALLELIC, autosomal or pseudoautosomal

• Bilateral congenital or childhood onset cataracts

  BIALLELIC, autosomal or pseudoautosomal

• Cholestasis

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Fetal hydrops

  BIALLELIC, autosomal or pseudoautosomal

• Inherited white matter disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Peroxisome biogenesis disorder-Zellweger syndrome spectrum

  0.83

• peroxisome biogenesis disorder 3A (Zellweger)

  0.82

• Zellweger syndrome

  0.79

• peroxisome biogenesis disorder type 3B

  0.79

• peroxisome biogenesis disorder

  0.72

• peroxisomal disease

  0.62

• neurodegenerative disease

  0.43

• hereditary disease

  0.41

• Zellweger spectrum disorders

  0.37

• peroxisome biogenesis disorder 1A (Zellweger)

  0.37

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

Protein function (UniProt)