GCDH

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset leukodystrophy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Diagnostic testing for Glutaric acidaemia I

  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

• Structural basal ganglia disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• glutaryl-CoA dehydrogenase deficiency

  0.86

• hereditary disease

  0.51

• Dystonia

  0.42

• Abnormality of metabolism/homeostasis

  0.41

• Congenital dyserythropoietic anemia type IV

  0.34

• congenital dyserythropoietic anemia type 4

  0.34

• hypomyelinating leukodystrophy 2

  0.34

• Hereditary persistence of fetal hemoglobin - beta-thalassemia

  0.34

• hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

  0.34

• primary ciliary dyskinesia

  0.34

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

Protein function (UniProt)