PEX16

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset leukodystrophy

  BIALLELIC, autosomal or pseudoautosomal

• Arthrogryposis

  BIALLELIC, autosomal or pseudoautosomal

• Ataxia and cerebellar anomalies - narrow panel

  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 ataxia

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Peroxisome biogenesis disorder-Zellweger syndrome spectrum

  0.81

• Zellweger syndrome

  0.80

• peroxisome biogenesis disorder 8A (Zellweger)

  0.78

• peroxisome biogenesis disorder

  0.75

• peroxisomal disease

  0.66

• Zellweger spectrum disorders

  0.65

• neurodegenerative disease

  0.46

• peroxisome biogenesis disorder 1A (Zellweger)

  0.37

• SAPHO syndrome

  0.26

• hereditary disease

  0.19

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

Protein function (UniProt)