D2HGDH

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Inherited white matter disorders

  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

• White matter disorders and cerebral calcification - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• D-2-hydroxyglutaric aciduria

  0.84

• asthma

  0.53

• allergic rhinitis

  0.48

• allergic disease

  0.47

• L-2-hydroxyglutaric aciduria

  0.46

• Bilateral tonic-clonic seizure

  0.46

• Eczematoid dermatitis

  0.45

• childhood onset asthma

  0.44

• adult onset asthma

  0.44

• atopic eczema

  0.43

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

Protein function (UniProt)