RRM2B

ribonucleotide reductase regulatory TP53 inducible subunit M2B
OMIM: 604712, Gene2Phenotype

21 panels

Panel Reviews Mode of inheritance Details
21 panels

Green RRM2B in Gastrointestinal neuromuscular disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.14

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075
  • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)

Green RRM2B in Rhabdomyolysis and metabolic muscle disorders

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.46
Latest signed off version: v1.34 (4 Mar 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Literature
    Phenotypes
    • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075
    • Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 613077

    Green RRM2B in Neuromuscular disorders


    Version 5.167
    Latest signed off version: v5.43 (4 Mar 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)

    Green RRM2B in White matter disorders and cerebral calcification - narrow panel


    Version 1.181
    Latest signed off version: v1.12 (2 Mar 2020)

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)

    Red RRM2B in Mitochondrial liver disease


    Version 1.4
    Latest signed off version: v1.2 (17 Feb 2020)

    review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • 612075
    • Mitochondrial DNA depletion syndrome 8B (MNGIE type)
    • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077

    Green RRM2B in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.126

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075
    • Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075

    Green RRM2B in Unexplained kidney failure in young people

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 1.92

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075
    • Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075

    Green RRM2B in Mitochondrial DNA maintenance disorder


    Version 1.4
    Latest signed off version: v1.2 (17 Feb 2020)

    review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • 612075
    • Mitochondrial DNA depletion syndrome 8B (MNGIE type)
    • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077

    Red RRM2B in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.104
    Latest signed off version: v3.2 (13 Feb 2020)

    review Not set
    Sources
    • Expert Review Red
    • Expert list

    Red RRM2B in CAKUT

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 1.162

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic,renal tubulopathy), 612075
    • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)

    Green RRM2B in Unexplained paediatric onset end-stage renal disease


    Version 1.18
    Latest signed off version: v1.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075
    • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic,renal tubulopathy), 612075
    • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075

    Green RRM2B in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.460

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
    • Mitochondrial Ribonucelotide Reductase subunit 2 deficiency (Disorders of purine metabolism)
    • Disorders of mitochondrial DNA maintenance and integrity
    • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077
    • Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075
    • Mitochondrial DNA Depletion Syndrome (recessive)

    Green RRM2B in Inborn errors of metabolism


    Version 2.141
    Latest signed off version: v2.3 (17 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077
    • Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075
    • Mitochondrial DNA Depletion Syndrome (recessive)
    • Mitochondrial Ribonucelotide Reductase subunit 2 deficiency (Disorders of purine metabolism)
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions (autosomal dominant)
    • Disorders of mitochondrial DNA maintenance and integrity
    • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
    • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075

    Green RRM2B in Possible mitochondrial disorder - nuclear genes


    Version 1.46
    Latest signed off version: v1.17 (11 Nov 2020)

    review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • 612075
    • Mitochondrial DNA depletion syndrome 8B (MNGIE type)
    • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077

    Green RRM2B in Fetal anomalies


    Version 1.678
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Mitochondrial depletion syndrome

    Green RRM2B in DDG2P


    Version 2.28
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Mitochondrial depletion syndrome

    Amber RRM2B in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.374
    Latest signed off version: v2.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075
    • seizures
    • status epilepticus

    Green RRM2B in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1136
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075
    • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075
    • Mitochondrial depletion syndrome
    • Intellectual disability

    Green RRM2B in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.42
    Latest signed off version: v2.4 (17 Feb 2020)

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Expert
    Phenotypes
    • Disorders of mitochondrial DNA maintenance and integrity
    • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077
    • Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075
    • Mitochondrial DNA Depletion Syndrome (recessive)

    Red RRM2B in Childhood onset dystonia or chorea or related movement disorder


    Version 1.130
    Latest signed off version: v1.58 (6 Oct 2020)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green RRM2B in Severe Paediatric Disorders


    Version 1.78

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075
    • Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077