POLG-related disorder
Gene: POLGEnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 32 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #157640, #203700, #258450, #607459 & #613662) and the OMIM records were last accessed on 29 December 2025.Created: 29 Dec 2025, 11:44 a.m. | Last Modified: 29 Dec 2025, 11:44 a.m.
Panel Version: 1.2
POLG has been added to the panel for R315 POLG-related disorder with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 3:23 p.m. | Last Modified: 30 Jun 2023, 3:23 p.m.
Panel Version: 0.1
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Progressive external ophthalmoplegia, autosomal dominant 1, OMIM:157640
- Progressive external ophthalmoplegia, autosomal recessive 1, OMIM:258450
- Mitochondrial DNA depletion syndrome 4A (Alpers type), OMIM:203700
- Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), OMIM:607459
- Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662
- progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, MONDO:0024528
- progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, MONDO:0009783
- sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, MONDO:0011835
- mitochondrial DNA depletion syndrome 4a, MONDO:0008758
- mitochondrial DNA depletion syndrome 4b, MONDO:0013350
- OMIM
- 174763
- Clinvar variants
- Variants in POLG
- Penetrance
- None
- Panels with this gene
-
- Rhabdomyolysis and metabolic muscle disorders
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Mitochondrial DNA maintenance disorder
- Primary ovarian insufficiency
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Gastrointestinal neuromuscular disorders
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Acute rhabdomyolysis
- Arthrogryposis
- Hereditary ataxia
- Fetal anomalies
- Undiagnosed metabolic disorders
- POLG-related disorder
- Childhood onset dystonia, chorea or related movement disorder
- Cholestasis
- Mitochondrial liver disease, including transient infantile liver failure
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- DDG2P
- Optic neuropathy
- Intellectual disability
- Hyperammonaemia
- Paediatric pseudo-obstruction syndrome
- Bilateral congenital or childhood onset cataracts
- Ataxia and cerebellar anomalies - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Neonatal cholestasis
- Hereditary neuropathy or pain disorder
History Filter Activity
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: POLG were changed from to Progressive external ophthalmoplegia, autosomal dominant 1, OMIM:157640; Progressive external ophthalmoplegia, autosomal recessive 1, OMIM:258450; Mitochondrial DNA depletion syndrome 4A (Alpers type), OMIM:203700; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), OMIM:607459; Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662; progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, MONDO:0024528; progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, MONDO:0009783; sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, MONDO:0011835; mitochondrial DNA depletion syndrome 4a, MONDO:0008758; mitochondrial DNA depletion syndrome 4b, MONDO:0013350
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: POLG was added gene: POLG was added to POLG-related disorder. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal