GNPTAB

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

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Lysosomal storage disorder

  BIALLELIC, autosomal or pseudoautosomal

• Mucolipidosis II and III Alpha or Beta

  BIALLELIC, autosomal or pseudoautosomal

• Mucopolysaccharideosis, Gaucher, Fabry

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• mucolipidosis type III, alpha/beta

  0.85

• mucolipidosis type II

  0.84

• GNPTAB-mucolipidosis

  0.58

• mucolipidosis

  0.56

• Joubert syndrome and related disorders

  0.53

• hereditary disease

  0.51

• neurodegenerative disease

  0.50

• mucopolysaccharidosis type 3A

  0.50

• Abnormality of metabolism/homeostasis

  0.41

• lysosomal storage disease

  0.37

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

Protein function (UniProt)