Hereditary ataxia with onset in adulthood
Gene: POLG
On Oxford and Sheffield panels. Causative of several disorders but ataxia is a strong component.Created: 27 Apr 2019, 7:39 p.m.
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.
ONLY AR type variants are loss of function. Lots of cases in literature and positives in our own cohort; ataxia reported in all associated OMIM phenotypesCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion types 4A, 203700 and 4B, 613662, Mitochondrial recessive ataxia syndrome, 607459, autosomal dominant progressive external ophthalmoplegia, 157640 and autosomal recessive progressive external opthalmoplegia, 258450
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Source London North GMS was added to POLG.
Added phenotypes Mitochondrial recessive ataxia syndrome, 607459; autosomal recessive progressive external opthalmoplegia, 258450; autosomal dominant progressive external ophthalmoplegia, 157640; Mitochondrial DNA depletion types 4A, 203700 and 4B, 613662 for gene: POLG
Source NHS GMS was added to POLG.
Source Wessex and West Midlands GLH was added to POLG.
Checked panel against panel constituents. Ready to promote to version 1.
gene: POLG was added gene: POLG was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,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 Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)