HGSNAT

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

• Retinal disorders

  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 3C

  0.85

• retinitis pigmentosa 73

  0.78

• mucopolysaccharidosis type 3

  0.75

• retinitis pigmentosa

  0.68

• Retinal dystrophy

  0.55

• neurodegenerative disease

  0.47

• hereditary disease

  0.47

• inherited retinal dystrophy

  0.37

• synovial plica syndrome

  0.27

• retinal disorder

  0.12

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

Protein function (UniProt)