GNPTG

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  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

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Disease associations (Open Targets)

• GNPTG-mucolipidosis

  0.83

• Retinal dystrophy

  0.45

• Rod-cone dystrophy

  0.43

• mucolipidosis type III, alpha/beta

  0.37

• mucolipidosis

  0.33

• hereditary disease

  0.19

• type 2 diabetes mellitus

  0.14

• diabetes mellitus

  0.12

• Leber congenital amaurosis

  0.06

• retinitis pigmentosa

  0.06

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

Protein function (UniProt)