POLG

DNA polymerase gamma, catalytic subunit
OMIM: 174763, Gene2Phenotype

32 panels

Panel Reviews Mode of inheritance Details
32 panels

Green POLG in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.13

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700

Green POLG in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.24

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
Phenotypes
  • Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700

Green POLG in Primary ovarian insufficiency

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.67

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Progressive external ophthalmoplegia, autosomal dominant 1 157640
  • Progressive external ophthalmoplegia, autosomal recessive 1 258450

Green POLG in Gastrointestinal neuromuscular disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.21

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662

Green POLG 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
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Literature
    Phenotypes
    • Progressive external ophthalmoplegia, autosomal dominant 1, OMIM:157640
    • Progressive external ophthalmoplegia, autosomal recessive 1, OMIM:258450

    Green POLG 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
    • Mitochondrial DNA depletion syndrome 4A (Alpers type)

    Green POLG 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
    • Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700
    • Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662

    Green POLG in Ataxia and cerebellar anomalies - narrow panel


    Version 2.300
    Latest signed off version: v2.23 (8 Oct 2020)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)

    Green POLG in Cholestasis


    Version 1.110
    Latest signed off version: v1.21 (20 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mitochondrial DNA depletion syndrome 4A (Alpers type), OMIM:203700, MONDO:0008758

    Green POLG in Cataracts

    Level 3: Anterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.110
    Latest signed off version: v2.76 (5 Aug 2021)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • POLG-related disorders

    Green POLG in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.303

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)

    Green POLG 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
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700
    • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459
    • Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662
    • Progressive external ophthalmoplegia, autosomal dominant 1, 157640
    • Progressive external ophthalmoplegia, autosomal recessive 1, 258450

    Green POLG in Inherited white matter disorders

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

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Expert list
    Phenotypes
    • Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700
    • Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662
    • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459

    Green POLG 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 4A (Alpers type), 203700
    • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459
    • Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662
    • Progressive external ophthalmoplegia, autosomal dominant 1, 157640
    • Progressive external ophthalmoplegia, autosomal recessive 1, 258450

    Amber POLG in Optic neuropathy

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.72
    Latest signed off version: v2.2 (19 Feb 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • London North GLH
    Phenotypes
    • PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1, 157640
    • PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1, 258450

    Red POLG in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.161
    Latest signed off version: v3.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list

    Red POLG in Limb girdle muscular dystrophy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.44
    Latest signed off version: v2.4 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review
    Phenotypes
    • Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700

    Red POLG in Neurodegenerative disorders - adult onset


    Version 2.275
    Latest signed off version: v2.178 (5 Aug 2021)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)

    Green POLG 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))
    • Mitochondrial DNA depletion syndrome 4A (Alpers type)
    • Progressive external ophthalmoplegia, autosomal recessive, 258450
    • Progressive external ophthalmoplegia, autosomal dominant, 157640
    • Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662
    • Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700
    • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459
    • Mitochondrial DNA Depletion Syndrome
    • Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions

    Green POLG 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
    Phenotypes
    • Progressive external ophthalmoplegia, autosomal dominant, 157640
    • Progressive external ophthalmoplegia, autosomal recessive, 258450
    • Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700
    • Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
    • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
    • Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662
    • Mitochondrial DNA depletion syndrome 4A (Alpers type)
    • Mitochondrial DNA Depletion Syndrome
    • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459

    Green POLG 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 4A (Alpers type), 203700
    • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459
    • Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662
    • Progressive external ophthalmoplegia, autosomal dominant 1, 157640
    • Progressive external ophthalmoplegia, autosomal recessive 1, 258450

    Red POLG in Fetal anomalies


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

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • MITOCHONDRIAL DNA DEPLETION SYNDROME 4A

    Green POLG in DDG2P


    Version 2.76
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MITOCHONDRIAL DNA DEPLETION SYNDROME 4A 203700

    Green POLG in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.454

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Emory Genetics Laboratory
    • Expert list
    Phenotypes
    • Cardiomyopathy
    • sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO)
    • Mitochondrial DNA depletion syndrome 4A (Alpers type)
    • Mitochondrial DNA depletion syndrome 4B (MNGIE type)
    • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
    • Progressive external ophthalmoplegia, autosomal dominant 1
    • Progressive external ophthalmoplegia, autosomal recessive 1

    Green POLG 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    • UKGTN
    • Expert
    • Expert Review Green
    Phenotypes
    • Mitochondrial DNA depletion syndrome 4A (Alpers type)
    • Mitochondrial DNA depletion syndrome 4B (MNGIE type)
    • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)

    Green POLG in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1659
    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
    Phenotypes
    • MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)

    Green POLG 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
    • Expert Review Green
    • Eligibility statement exclusion criteria
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert
    Phenotypes
    • Progressive external ophthalmoplegia, autosomal recessive, 258450
    • Progressive external ophthalmoplegia, autosomal dominant, 157640
    • Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662
    • Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700
    • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459
    • Mitochondrial DNA Depletion Syndrome
    • Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions

    Green POLG in Hereditary ataxia - adult onset


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

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
    • Mitochondrial recessive ataxia syndrome, 607459
    • autosomal recessive progressive external opthalmoplegia, 258450
    • autosomal dominant progressive external ophthalmoplegia, 157640
    • Mitochondrial DNA depletion types 4A, 203700 and 4B, 613662

    Amber POLG in Hereditary neuropathy NOT PMP22 copy number


    Version 1.103
    Latest signed off version: v1.36 (5 Aug 2021)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Emory Genetics Laboratory
    • Expert list
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO)
    • Mitochondrial DNA depletion syndrome 4A (Alpers type)
    • Cardiomyopathy
    • Progressive external ophthalmoplegia, autosomal recessive 1
    • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
    • Progressive external ophthalmoplegia, autosomal dominant 1
    • Mitochondrial DNA depletion syndrome 4B (MNGIE type)

    Red POLG 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 POLG 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
    • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459
    • Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662
    • Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700
    • Progressive external ophthalmoplegia, autosomal recessive 1, 258450
    • Progressive external ophthalmoplegia, autosomal dominant 1, 157640

    Green POLG 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, autosomal recessive 1, OMIM:258450
    • Progressive external ophthalmoplegia, autosomal dominant 1, OMIM:157640