MDH2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• 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

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

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Disease associations (Open Targets)

• developmental and epileptic encephalopathy, 51

  0.77

• hereditary disease

  0.49

• Infantile encephalopathy

  0.46

• hereditary pheochromocytoma-paraganglioma

  0.40

• atrial fibrillation

  0.28

• developmental and epileptic encephalopathy, 1

  0.27

• Spasticity - intellectual disability - X-linked epilepsy

  0.27

• substance-related disorder

  0.23

• opioid use disorder

  0.17

• hepatocellular carcinoma

  0.10

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

Protein function (UniProt)