PEX10

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

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Fetal hydrops

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• peroxisome biogenesis disorder 6B

  0.81

• Zellweger syndrome

  0.79

• Peroxisome biogenesis disorder-Zellweger syndrome spectrum

  0.79

• peroxisome biogenesis disorder 6A (Zellweger)

  0.78

• peroxisome biogenesis disorder

  0.72

• peroxisome biogenesis disorder, complementation group 7

  0.69

• peroxisomal disease

  0.62

• Zellweger spectrum disorders

  0.61

• hereditary disease

  0.47

• autosomal recessive ataxia due to PEX10 deficiency

  0.38

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

Protein function (UniProt)