GLYCTK

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

• D-glyceric aciduria

  0.72

• bipolar disorder

  0.15

• diverticular disease

  0.10

• schizophrenia

  0.09

• Fuchs endothelial corneal dystrophy

  0.08

• posterior polymorphous corneal dystrophy

  0.08

• Peters anomaly

  0.08

• Familial ocular anterior segment mesenchymal dysgenesis

  0.08

• early-onset non-syndromic cataract

  0.07

• lattice corneal dystrophy type I

  0.07

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