Hereditary ataxia with onset in adulthood

Gene: 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

Red List (low evidence)

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.

I don't know

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.

I don't know

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

Phenotypes
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 610131

Variants in this GENE are reported as part of current diagnostic practice