This Panel is marked as Internal
DNA Repair Genes pertinent cancer susceptibility
Gene: POLG
POLG (DNA polymerase gamma, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 32 panels
EnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 32 panels
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Details
- Sources
-
- Human DNA Repair Genes Database
- Phenotypes
-
- Class: DNA polymerases (catalytic subunits)
- Activity: BER in mitochondrial DNA
- OMIM
- 174763
- Clinvar variants
- Variants in POLG
- Penetrance
- Complete
- Panels with this gene
-
- Neurodegenerative disorders, adult onset
- Ataxia and cerebellar anomalies - childhood onset
- Possible mitochondrial disorder, nuclear genes
- Cholestasis
- Primary ovarian insufficiency
- Gastrointestinal neuromuscular disorders
- Inherited white matter disorders
- DDG2P
- Early onset or syndromic epilepsy
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy
- Rhabdomyolysis and metabolic muscle disorders
- Mitochondrial DNA maintenance disorder
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Arthrogryposis
- Bilateral congenital or childhood onset cataracts
- Intellectual disability
- Paediatric pseudo-obstruction syndrome
- Fetal anomalies
- Undiagnosed metabolic disorders
- POLG-related disorder
- Hereditary neuropathy or pain disorder
- Hyperammonaemia
- Hereditary ataxia
- Hereditary ataxia, adult onset
- Optic neuropathy
- Acute rhabdomyolysis
- Mitochondrial disorders
- Neonatal cholestasis
- Mitochondrial liver disease
- White matter disorders and cerebral calcification - childhood onset
History Filter Activity
7 Sep 2018, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Louise Daugherty: changed gene symbol to approve
21 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)POLG was created by ellenmcdonagh
21 Jun 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)POLG was added to DNA Repair Genespanel. Sources: Human DNA Repair Genes Database