PEX6

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset leukodystrophy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Amelogenesis imperfecta

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Arthrogryposis

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Ataxia and cerebellar anomalies - narrow panel

  BOTH monoallelic and 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

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Zellweger syndrome

  0.84

• peroxisome biogenesis disorder 4A (Zellweger)

  0.84

• peroxisome biogenesis disorder

  0.82

• peroxisome biogenesis disorder 4B

  0.81

• Zellweger spectrum disorders

  0.78

• Autosomal recessive cerebellar ataxia - blindness - deafness

  0.72

• peroxisome biogenesis disorder due to PEX6 defect

  0.61

• hereditary disease

  0.51

• glycine N-methyltransferase deficiency

  0.46

• neurodegenerative disease

  0.44

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

Protein function (UniProt)