Possible mitochondrial disorder - nuclear genes
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.Created: 4 Feb 2019, 1:36 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
-
- 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
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: POLG was added gene: POLG was added to Possible mitochondrial disorder - nuclear genes. 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