PEX11B

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

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• peroxisome biogenesis disorder 14B

  0.77

• Zellweger spectrum disorders

  0.70

• peroxisome biogenesis disorder

  0.49

• neurodegenerative disease

  0.49

• peroxisomal disease

  0.46

• Peroxisome biogenesis disorder-Zellweger syndrome spectrum

  0.46

• Zellweger syndrome

  0.37

• Intellectual disability

  0.37

• Thrombocytopenia - absent radius

  0.26

• thrombocytopenia-absent radius syndrome

  0.26

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

Protein function (UniProt)