RRM2B

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Gastrointestinal neuromuscular disorders

  BIALLELIC, autosomal or pseudoautosomal

• Inherited white matter disorders

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Mitochondrial disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Mitochondrial DNA maintenance disorder

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

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Disease associations (Open Targets)

• mitochondrial DNA depletion syndrome 8a

  0.84

• Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy

  0.82

• mitochondrial dna depletion syndrome 8b (mngie type)

  0.78

• progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5

  0.73

• rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction

  0.69

• mitochondrial DNA depletion syndrome, encephalomyopathic form

  0.67

• autosomal dominant progressive external ophthalmoplegia

  0.65

• non-small cell lung carcinoma

  0.60

• sickle cell disease

  0.59

• B-cell chronic lymphocytic leukemia

  0.59

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

Protein function (UniProt)

Diseases associated with RRM2B

Curated MONDO disease pages that list RRM2B among their top associated genes.

• ovarian carcinomaRare
• nasopharyngeal carcinomaRare