Hereditary ataxia - adult onsetGene: POLG2
Comment on mode of inheritance: Reporting and characterization of a homozygous POLG2 variant in mitochondrial DNA depletion syndrome and in an autosomal recessive epilepsy family without ophthalmoplegia (PMID 27592148; 30157269; 31286721).
Created: 12 Aug 2019, 10:20 a.m. | Last Modified: 12 Aug 2019, 10:20 a.m.
Panel Version: 1.195
1 Belgian family with ataxia as part of phenotype. Otherwise PEO and other symptoms. Not on Ox or Shef.
Created: 27 Apr 2019, 7:39 p.m.
Downgraded rating from Amber to Red. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Created: 1 Aug 2019, 3:43 p.m. | Last Modified: 1 Aug 2019, 3:43 p.m.
Panel Version: 1.188
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.
Report as part of our disorders of mitochondrial DNA maintenance panel. Ataxia does not seem to be a frequent feature of this disorder - single family reported with a splice variant segregating with adult-onset syndromic sensory neuropathy, ataxia and Parkinsonism (PMID 28078310). I don't think sufficient link to relevant phenotype for this panel
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 610131
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: POLG2 were set to
Mode of inheritance for gene: POLG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Source Expert Review Red was added to POLG2. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Mode of inheritance for gene: POLG2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: polg2 has been classified as Amber List (Moderate Evidence).
Source London North GMS was added to POLG2.
Added phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 610131 for gene: POLG2
Source NHS GMS was added to POLG2.
gene: POLG2 was added gene: POLG2 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: POLG2 was set to