NAGLU

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Lysosomal storage disorder

  BIALLELIC, autosomal or pseudoautosomal

• Mucopolysaccharideosis, Gaucher, Fabry

  BIALLELIC, autosomal or pseudoautosomal

• Mucopolysaccharidosis type IIIB

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• mucopolysaccharidosis type 3B

  0.87

• Charcot-Marie-Tooth disease axonal type 2V

  0.73

• mucopolysaccharidosis type 3

  0.72

• hereditary disease

  0.53

• Abnormality of metabolism/homeostasis

  0.45

• Thick eyebrow

  0.43

• Hepatosplenomegaly

  0.43

• Abnormal facial shape

  0.43

• hypertrichosis

  0.43

• Coarse facial features

  0.43

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

Protein function (UniProt)