IDS

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Fetal anomalies

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Gastrointestinal neuromuscular disorders

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Hydrocephalus

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Intellectual disability

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Likely inborn error of metabolism

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Lysosomal storage disorder

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Mucopolysaccharideosis, Gaucher, Fabry

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

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Disease associations (Open Targets)

• mucopolysaccharidosis type 2

  0.88

• hereditary disease

  0.54

• mucopolysaccharidosis

  0.51

• mucopolysaccharidosis type 2, severe form

  0.51

• mucopolysaccharidosis type 3A

  0.41

• mucopolysaccharidosis type 2, attenuated form

  0.37

• epidermolysis bullosa simplex with nail dystrophy

  0.11

• cranioectodermal dysplasia

  0.06

• 3M syndrome

  0.06

• mandibuloacral dysplasia

  0.06

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

Protein function (UniProt)