SGSH

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  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 IIIA

  BIALLELIC, autosomal or pseudoautosomal

• Retinal disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• mucopolysaccharidosis type 3A

  0.87

• mucopolysaccharidosis type 3

  0.74

• hereditary disease

  0.54

• Retinal dystrophy

  0.51

• Cone rod dystrophy

  0.43

• cone-rod dystrophy

  0.43

• Diarrhea

  0.42

• Global developmental delay

  0.42

• Nystagmus

  0.42

• Developmental regression

  0.42

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

Protein function (UniProt)