POLG

DNA polymerase gamma, catalytic subunit
OMIM: 174763
PanelMode of inheritanceDetails
12 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MITOCHONDRIAL DNA DEPLETION SYNDROME 4A 203700
R-numbers: R59
Signed-off version 2.2
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)
R-numbers: R54
Signed-off version 2.13
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
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
R-numbers: R352
Signed-off version 1.2
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
R-numbers: R317
Signed-off version 1.2
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
R-numbers: R63
Signed-off version 1.17
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 1.34
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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, Progressive external ophthalmoplegia, autosomal dominant 1 157640, Progressive external ophthalmoplegia, autosomal recessive 1 258450
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
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