POLG2

DNA polymerase gamma 2, accessory subunit
OMIM: 604983
PanelMode of inheritanceDetails
8 panels
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
R-numbers: R21, R412
Signed-off version 4.0
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
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 5.6
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
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.4
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
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
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 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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 4.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4