ST3GAL3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• 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

• Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

• infantile spasms

  0.71

• autosomal recessive non-syndromic intellectual disability

  0.67

• genetic developmental and epileptic encephalopathy

  0.52

• early-infantile DEE

  0.52

• COVID-19

  0.46

• neurodegenerative disease

  0.44

• hereditary disease

  0.41

• developmental and epileptic encephalopathy

  0.38

• attention deficit-hyperactivity disorder

  0.38

• severe acute respiratory syndrome

  0.37

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

Protein function (UniProt)