Likely inborn error of metabolism
Gene: POLGEnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 32 panels
4 reviews
Carl Fratter (Oxford University Hospitals NHS Trust)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Arianna Tucci (Genomics England Curator)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Rhabdomyolysis and metabolic muscle disorders
Publications
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Sourced from reviewer. Biallelic on G2P for Mitochondrial DNA depletion syndrome 4A. From OMIM: Autosomal recessive for several disorders, but autosomal dominant for Progressive external ophthalmoplegia, autosomal dominant 1.Created: 10 Feb 2016, 9:29 a.m.
Comment on list classification: Both reviewers agree this should be promoted from amber. Confirmed DD gene in G2P.Created: 10 Feb 2016, 9:26 a.m.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- 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
- OMIM
- 174763
- Clinvar variants
- Variants in POLG
- Penetrance
- None
- Publications
- Panels with this gene
-
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Mitochondrial DNA maintenance disorder
- Primary ovarian insufficiency
- Gastrointestinal neuromuscular disorders
- Adult onset neurodegenerative disorder
- Inherited white matter disorders
- Arthrogryposis
- Hereditary ataxia with onset in adulthood
- Possible mitochondrial disorder - nuclear genes
- Hereditary ataxia
- Fetal anomalies
- DDG2P
- Hereditary neuropathy
- POLG-related disorder
- Cholestasis
- Mitochondrial liver disease, including transient infantile liver failure
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Hyperammonaemia
- Paediatric pseudo-obstruction syndrome
- Ataxia and cerebellar anomalies - narrow panel
- Optic neuropathy
- Early onset or syndromic epilepsy
- Mitochondrial disorders
- Likely inborn error of metabolism
- Rhabdomyolysis and metabolic muscle disorders
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Hereditary neuropathy or pain disorder
- Neonatal cholestasis
- White matter disorders and cerebral calcification - narrow panel
- Acute rhabdomyolysis
History Filter Activity
Added New Source, Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to POLG. Source London North GLH was added to POLG.
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ellen McDonagh: Comment on mode of pathogenici
Set Phenotypes, Set publications
Ellen McDonagh (Genomics England Curator)Added phenotypes Progressive external ophthalmoplegia, autosomal dominant, 157640; Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700; Progressive external ophthalmoplegia, autosomal recessive, 258450; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions; 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 for gene: POLG Publications for gene POLG were changed from to 27604308
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: POLG was added gene: POLG was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: POLG were set to 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; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662; Mitochondrial DNA Depletion Syndrome; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459