Mitochondrial disorders
Gene: POLGEnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 32 panels
3 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
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
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Eligibility statement exclusion criteria
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert
- Phenotypes
-
- Progressive external ophthalmoplegia, autosomal recessive, 258450
- Progressive external ophthalmoplegia, autosomal dominant, 157640
- Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662
- Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700
- Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459
- Mitochondrial DNA Depletion Syndrome
- Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
- OMIM
- 174763
- Clinvar variants
- Variants in POLG
- Penetrance
- Complete
- Panels with this gene
-
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Bilateral congenital or childhood onset cataracts
- Undiagnosed metabolic disorders
- Hereditary neuropathy
- Mitochondrial DNA maintenance disorder
- Hereditary neuropathy or pain disorder
- Primary ovarian insufficiency
- Gastrointestinal neuromuscular disorders
- Inherited white matter disorders
- Ataxia and cerebellar anomalies - narrow panel
- Acute rhabdomyolysis
- Hereditary ataxia with onset in adulthood
- Arthrogryposis
- Hereditary ataxia
- POLG-related disorder
- Cholestasis
- Mitochondrial liver disease, including transient infantile liver failure
- Childhood onset dystonia, chorea or related movement disorder
- Optic neuropathy
- Hyperammonaemia
- Adult onset neurodegenerative disorder
- Paediatric pseudo-obstruction syndrome
- Intellectual disability
- Fetal anomalies
- DDG2P
- Likely inborn error of metabolism
- Mitochondrial disorders
- White matter disorders and cerebral calcification - narrow panel
- Rhabdomyolysis and metabolic muscle disorders
- Early onset or syndromic epilepsy
- Neonatal cholestasis
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to POLG. Panel: Mitochondrial disorders
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for POLG were set to Progressive external ophthalmoplegia, autosomal recessive, 258450; Progressive external ophthalmoplegia, autosomal dominant, 157640; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662; Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459; Mitochondrial DNA Depletion Syndrome; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for POLG was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)POLG was added to All recognised syndromes and those with suggestive featurespanel. Sources: Eligibility statement exclusion criteria
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene POLG was changed to Unknown
Added New Source
Ellen McDonagh (Genomics England Curator)POLG was added to All recognised syndromes and those with suggestive featurespanel. Sources: UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)POLG was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)POLG was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Radboud University Medical Center, Nijmegen