POLG2

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

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 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