Mitochondrial DNA maintenance disorder
Gene: POLGEnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 32 panels
4 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: POLG; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.Created: 1 Feb 2019, 4:28 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459; Progressive external ophthalmoplegia, autosomal dominant 1, 157640; Progressive external ophthalmoplegia, autosomal recessive 1, 258450
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
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 (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700
- Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459
- Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662
- Progressive external ophthalmoplegia, autosomal dominant 1, 157640
- Progressive external ophthalmoplegia, autosomal recessive 1, 258450
- OMIM
- 174763
- Clinvar variants
- Variants in POLG
- Penetrance
- None
- Panels with this gene
-
- Possible mitochondrial disorder - nuclear genes
- Mitochondrial DNA maintenance disorder
- Acute rhabdomyolysis
- Hereditary ataxia with onset in adulthood
- DDG2P
- Primary ovarian insufficiency
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Gastrointestinal neuromuscular disorders
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Fetal anomalies
- Early onset or syndromic epilepsy
- Likely inborn error of metabolism
- Adult onset neurodegenerative disorder
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Paediatric pseudo-obstruction syndrome
- Optic neuropathy
- Hereditary neuropathy
- White matter disorders and cerebral calcification - narrow panel
- POLG-related disorder
- Mitochondrial liver disease, including transient infantile liver failure
- Undiagnosed metabolic disorders
- Hyperammonaemia
- Hereditary ataxia
- Mitochondrial disorders
- Rhabdomyolysis and metabolic muscle disorders
- Cholestasis
- Bilateral congenital or childhood onset cataracts
- Intellectual disability
- Arthrogryposis
- Neonatal cholestasis
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: POLG was added gene: POLG was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662; Progressive external ophthalmoplegia, autosomal dominant 1, 157640; Progressive external ophthalmoplegia, autosomal recessive 1, 258450