GALNS

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

• 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 IVA

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

+5 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• mucopolysaccharidosis type 4A

  0.87

• mucopolysaccharidosis type 4

  0.74

• hereditary disease

  0.52

• skeletal dysplasia

  0.41

• mucopolysaccharidosis

  0.38

• Abnormality of the skeletal system

  0.27

• Abnormality of metabolism/homeostasis

  0.27

• sunburn

  0.17

• Vertigo

  0.16

• adenine phosphoribosyltransferase deficiency

  0.12

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

Protein function (UniProt)