MTHFR

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset leukodystrophy

  BIALLELIC, autosomal or pseudoautosomal

• Cerebral folate deficiency

  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

• Childhood onset dystonia, chorea or related movement disorder

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Disease associations (Open Targets)

• homocystinuria due to methylene tetrahydrofolate reductase deficiency

  0.86

• schizophrenia

  0.66

• neural tube defects, folate-sensitive

  0.57

• thrombophilia due to thrombin defect

  0.54

• Global developmental delay

  0.42

• Bilateral tonic-clonic seizure

  0.42

• ischemic stroke

  0.40

• isolated spina bifida

  0.38

• Seizure

  0.37

• Abnormality of metabolism/homeostasis

  0.34

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

Protein function (UniProt)

Diseases associated with MTHFR

Curated MONDO disease pages that list MTHFR among their top associated genes.

• schizophreniaRare