NGLY1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• Congenital disorders of glycosylation

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• congenital disorder of deglycosylation 1

  0.78

• congenital disorder of deglycosylation

  0.75

• Alacrimia-choreoathetosis-liver dysfunction syndrome

  0.73

• hereditary disease

  0.53

• neurodegenerative disease

  0.46

• Intellectual disability

  0.46

• epilepsy

  0.43

• Neurodevelopmental delay

  0.43

• Alzheimer disease

  0.38

• Parkinson disease

  0.37

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

Protein function (UniProt)