POLG

DNA polymerase gamma, catalytic subunit
OMIM: 174763, Gene2Phenotype

33 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 33 panels
Green POLG in Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Version 1.21	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 1.26	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 1.68	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 1.23	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 4.4 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Literature Phenotypes Progressive external ophthalmoplegia, autosomal dominant 1, OMIM:157640 Progressive external ophthalmoplegia, autosomal recessive 1, OMIM:258450
Green POLG in White matter disorders and cerebral calcification - narrow panel Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy	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 5.3 Latest signed off version: v5.0 (1 May 2024) 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 3.4 Latest signed off version: v3.0 (22 Mar 2023)	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 Bilateral congenital or childhood onset cataracts Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 4.14 Latest signed off version: v4.0 (22 Mar 2023)	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 1.332	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, including transient infantile liver failure Version 1.12 Latest signed off version: v1.9 (22 Mar 2023)	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 1.180	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services 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 3.6 Latest signed off version: v3.0 (22 Mar 2023)	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 4.30 Latest signed off version: v4.0 (22 Mar 2023)	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 6.3 Latest signed off version: v6.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list
Red POLG in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.33 Latest signed off version: v4.32 (1 May 2024) Component of the following Super Panels: Hypotonic infant Other rare 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 Adult onset neurodegenerative disorder Version 5.3 Latest signed off version: v5.0 (1 May 2024)	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 1.617	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 Likely inborn error of metabolism - targeted testing not possible Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	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 3.106 Latest signed off version: v3.105 (1 May 2024)	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 Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), OMIM:607459 Mitochondrial DNA depletion syndrome 4A (Alpers type), OMIM:203700 Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662
Green POLG in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) 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 1.478	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 Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 5.10 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	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 6.13 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	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 6.4 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy	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 with onset in adulthood Version 5.3 Latest signed off version: v5.0 (1 May 2024)	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 or pain disorder Version 4.11 Latest signed off version: v4.0 (1 May 2024)	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, chorea or related movement disorder Version 4.3 Latest signed off version: v4.0 (1 May 2024)	review	Not set	Sources Expert Review Red London North GLH
Green POLG in Severe Paediatric Disorders Version 1.184	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 1.18 Latest signed off version: v1.7 (31 May 2023)	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
Green POLG in Paediatric pseudo-obstruction syndrome Version 1.5 Latest signed off version: v1.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662
Green POLG in POLG-related disorder Version 1.1 Latest signed off version: v1.0 (14 Sep 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green

POLG

33 panels

Green POLG in Hyperammonaemia

Sources

Phenotypes

Green POLG in Neonatal cholestasis

Sources

Phenotypes

Green POLG in Primary ovarian insufficiency

Sources

Phenotypes

Green POLG in Gastrointestinal neuromuscular disorders

Sources

Phenotypes

Green POLG in Rhabdomyolysis and metabolic muscle disorders

Sources

Phenotypes

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

Sources

Phenotypes

Green POLG in Ataxia and cerebellar anomalies - narrow panel

Sources

Phenotypes

Green POLG in Cholestasis

Sources

Phenotypes

Green POLG in Bilateral congenital or childhood onset cataracts

Sources

Phenotypes

Green POLG in Hereditary ataxia

Sources

Phenotypes

Green POLG in Mitochondrial liver disease, including transient infantile liver failure

Sources

Phenotypes

Green POLG in Inherited white matter disorders

Sources

Phenotypes

Green POLG in Mitochondrial DNA maintenance disorder

Sources

Phenotypes

Amber POLG in Optic neuropathy

Sources

Phenotypes

Red POLG in Arthrogryposis

Sources

Red POLG in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

Sources

Phenotypes

Red POLG in Adult onset neurodegenerative disorder

Sources

Phenotypes

Green POLG in Undiagnosed metabolic disorders

Sources

Phenotypes

Green POLG in Likely inborn error of metabolism - targeted testing not possible

Sources

Phenotypes

Green POLG in Possible mitochondrial disorder - nuclear genes

Sources

Phenotypes

Amber POLG in Fetal anomalies

Sources

Phenotypes

Green POLG in DDG2P

Sources

Phenotypes

Green POLG in Hereditary neuropathy

Sources

Phenotypes

Green POLG in Early onset or syndromic epilepsy

Sources

Phenotypes

Green POLG in Intellectual disability

Sources

Phenotypes

Green POLG in Mitochondrial disorders

Sources

Phenotypes

Green POLG in Hereditary ataxia with onset in adulthood