Genomics England

POLG2

DNA polymerase gamma 2, accessory subunit

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Acute rhabdomyolysis R-numbers: R419 Signed-off version 1.7	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 3.0	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528, Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131
Green in Likely inborn error of metabolism - targeted testing not possible Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 4.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528, Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 4.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528, Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131
Green in Mitochondrial DNA maintenance disorder R-numbers: R352 Signed-off version 3.0	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528, Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.0	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528, Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131
Green in Rhabdomyolysis and metabolic muscle disorders Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 3.0	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: - Childhood onset leukodystrophy Signed-off version 3.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4