Hereditary neuropathy
Gene: POLGEnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 32 panels
6 reviews
Louise Daugherty (Genomics England Curator)
The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.Created: 7 Dec 2019, 6:08 p.m. | Last Modified: 7 Dec 2019, 6:08 p.m.
Panel Version: 1.352
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 5 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Alexander Rossor (UCL Institute of Neurology)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mary Reilly (Institute of Neurology)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green due to agreement from 3 reviewers. It is a confirmed DD gene for Mitochondrial DNA depletion syndrome 4A.Created: 5 May 2016, 9:27 a.m.
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
SANDO is a typical presentationCreated: 9 Dec 2015, 4:48 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- London North GLH
- Expert Review Green
- Emory Genetics Laboratory
- Expert list
- Phenotypes
-
- Cardiomyopathy
- sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO)
- Mitochondrial DNA depletion syndrome 4A (Alpers type)
- Mitochondrial DNA depletion syndrome 4B (MNGIE type)
- Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
- Progressive external ophthalmoplegia, autosomal dominant 1
- Progressive external ophthalmoplegia, autosomal recessive 1
- OMIM
- 174763
- Clinvar variants
- Variants in POLG
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Rhabdomyolysis and metabolic muscle disorders
- 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
- Hereditary neuropathy or pain disorder
- 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
- DDG2P
- Optic neuropathy
- Hyperammonaemia
- Paediatric pseudo-obstruction syndrome
- Bilateral congenital or childhood onset cataracts
- Ataxia and cerebellar anomalies - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Early onset or syndromic epilepsy
- Neonatal cholestasis
- White matter disorders and cerebral calcification - narrow panel
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to POLG.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source London North GLH was added to POLG. Rating Changed from Green List (high evidence) to 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).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for POLG were set to Cardiomyopathy; sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO); Mitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial DNA depletion syndrome 4B (MNGIE type); Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Progressive external ophthalmoplegia, autosomal dominant 1; Progressive external ophthalmoplegia, autosomal recessive 1
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for POLG were set to Cardiomyopathy; sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO)
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).
Added New Source
Ellen McDonagh (Genomics England Curator)POLG was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Emory Genetics Laboratory
Added New Source
Ellen McDonagh (Genomics England Curator)POLG was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Emory Genetics Laboratory