Genomics England

POLG

DNA polymerase gamma, catalytic subunit

Panel	Mode of inheritance	Details
Filter panels17 panels
Green in Acute rhabdomyolysis R-numbers: R419 Signed-off version 1.7	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Progressive external ophthalmoplegia, autosomal recessive 1, OMIM:258450, Progressive external ophthalmoplegia, autosomal dominant 1, OMIM:157640
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 6.3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 5.4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes POLG-related disorders
Green in Cholestasis R-numbers: R171 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 4A (Alpers type), OMIM:203700, MONDO:0008758
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MITOCHONDRIAL DNA DEPLETION SYNDROME 4A 203700
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 6.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 4A (Alpers type), Mitochondrial DNA depletion syndrome 4B (MNGIE type), Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 6.7	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)
Green in Likely inborn error of metabolism 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 6.14	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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 in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 7.4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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 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 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 in Mitochondrial liver disease, including transient infantile liver failure R-numbers: R317 Signed-off version 1.9	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	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 in Paediatric pseudo-obstruction syndrome R-numbers: R438 Signed-off version 1.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662
Green in POLG-related disorder R-numbers: R315 Signed-off version 1.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	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 in Rhabdomyolysis and metabolic muscle disorders Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 5.1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Progressive external ophthalmoplegia, autosomal dominant 1, OMIM:157640, Progressive external ophthalmoplegia, autosomal recessive 1, OMIM:258450
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	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