Hereditary neuropathy or pain disorder
Gene: POLG
Comment on list classification: Gene included in a list of complex neuropathy syndrome genes recommended to be downgraded for R78 panel (list submitted by Alex Rossor 15th July 2019)Created: 6 Dec 2019, 8:26 p.m. | Last Modified: 6 Dec 2019, 8:26 p.m.
Panel Version: 0.64
This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) 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, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.Created: 6 Dec 2019, 8:25 p.m. | Last Modified: 6 Dec 2019, 8:25 p.m.
Panel Version: 0.63
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.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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.
SANDO is a typical presentationCreated: 9 Dec 2015, 4:48 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Gene: polg has been classified as Amber List (Moderate Evidence).
gene: POLG was added gene: POLG was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,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 sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO); Mitochondrial DNA depletion syndrome 4A (Alpers type); Cardiomyopathy; Progressive external ophthalmoplegia, autosomal recessive 1; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Progressive external ophthalmoplegia, autosomal dominant 1; Mitochondrial DNA depletion syndrome 4B (MNGIE type)