IDH2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Dilated Cardiomyopathy and conduction defects

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Likely inborn error of metabolism

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Mosaic skin disorders - deep sequencing

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Paediatric or syndromic cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Undiagnosed metabolic disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Childhood onset dystonia, chorea or related movement disorder

• Cytopenias and congenital anaemias

  Unknown

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Disease associations (Open Targets)

• D-2-hydroxyglutaric aciduria

  0.75

• glioma

  0.73

• acute myeloid leukemia

  0.69

• astrocytoma (excluding glioblastoma)

  0.55

• 2-hydroxyglutaric aciduria

  0.54

• oligodendroglioma

  0.50

• myeloid neoplasm

  0.49

• myeloid leukemia

  0.46

• myelodysplastic syndrome

  0.46

• Maffucci syndrome

  0.44

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

Protein function (UniProt)

Diseases associated with IDH2

Curated MONDO disease pages that list IDH2 among their top associated genes.

• gliomaRare
• osteosarcomaRare