POLG2

DNA polymerase gamma 2, accessory subunit
OMIM: 604983
PanelMode of inheritanceDetails
6 panels
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 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
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
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
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, NA, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131
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, NA, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 1.34
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:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4