GUSB

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Fetal hydrops

  BIALLELIC, autosomal or pseudoautosomal

• Hydrocephalus

  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

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Disease associations (Open Targets)

• mucopolysaccharidosis type 7

  0.88

• mucopolysaccharidosis type 6

  0.44

• hereditary disease

  0.41

• Non-immune hydrops fetalis

  0.39

• mucopolysaccharidosis

  0.37

• hydrops fetalis

  0.37

• Alzheimer disease

  0.23

• gastritis

  0.16

• neurodegenerative disease

  0.13

• prostate cancer

  0.11

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

Protein function (UniProt)