POLG2

DNA polymerase gamma 2, accessory subunit
OMIM: 604983, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Green POLG2 in Rhabdomyolysis and metabolic muscle disorders

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.78
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
    • Expert Review Green
    • Literature
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131

    Green POLG2 in Neuromuscular disorders


    Version 5.352
    Latest signed off version: v5.43 (4 Mar 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4

    Green POLG2 in White matter disorders and cerebral calcification - narrow panel


    Version 1.240
    Latest signed off version: v1.12 (2 Mar 2020)

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4

    Red POLG2 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
    • Mitochondrial DNA depletion syndrome, NA
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131

    Green POLG2 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.159

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    • UKGTN
    • Expert list
    Phenotypes
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131

    Green POLG2 in Mitochondrial DNA maintenance disorder


    Version 1.10
    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
    • Mitochondrial DNA depletion syndrome, NA
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131

    Green POLG2 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.542

    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))
    • Disorders of mitochondrial DNA maintenance and integrity
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4,610131
    • Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions

    Green POLG2 in Inborn errors of metabolism


    Version 2.263
    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
    • Victorian Clinical Genetics Services
    Phenotypes
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4,610131
    • Disorders of mitochondrial DNA maintenance and integrity
    • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
    • Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions

    Green POLG2 in Possible mitochondrial disorder - nuclear genes


    Version 1.94
    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
    • Mitochondrial DNA depletion syndrome, NA
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131

    Green POLG2 in Fetal anomalies


    Version 1.900
    Latest signed off version: v1.92 (21 Aug 2020)

    review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mitochondrial DNA depletion syndrome 16 (hepatic type), OMIM:618528
    • Mitochondrial DNA depletion syndrome 16 (hepatic type), MONDO:0032799
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MONDO:0012415

    Amber POLG2 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.563
    Latest signed off version: v2.2 (13 Feb 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Mitochondrial DNA depletion syndrome 16 (hepatic type), 618528
    • Autosomal Recessive Epilepsy Family Without Ophthalmoplegia
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131

    Green POLG2 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.117
    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
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Expert
    Phenotypes
    • Disorders of mitochondrial DNA maintenance and integrity
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4,610131
    • Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions

    Red POLG2 in Hereditary ataxia - adult onset


    Version 2.158
    Latest signed off version: v2.13 (6 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 610131

    Red POLG2 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.241
    Latest signed off version: v1.137 (5 Aug 2021)

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

    Green POLG2 in Severe Paediatric Disorders


    Version 1.127

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131
    • Mitochondrial DNA depletion syndrome 16 (hepatic type), 618528

    Green POLG2 in Acute rhabdomyolysis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 0.10

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131