Genomics England

POLG2

DNA polymerase gamma 2, accessory subunit

Panel	Mode of inheritance	Details
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Green in Acute rhabdomyolysis R-numbers: R419 Signed-off version 1.1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 2.4	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	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
Green in Inborn errors of metabolism Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R98 Signed-off version 3.2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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 in Mitochondrial disorders Component of the following Super Panels: - White matter disorders - childhood onset Signed-off version 3.1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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
Green in Mitochondrial DNA maintenance disorder R-numbers: R352 Signed-off version 2.1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome, NA, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 2.2	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome, NA, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131
Green in Rhabdomyolysis and metabolic muscle disorders Component of the following Super Panels: - Hypotonic infant - Neuromuscular disorders Signed-off version 2.1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - White matter disorders - childhood onset Signed-off version 2.1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4