Hereditary ataxia with onset in adulthood
Gene: POLGEnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 32 panels
3 reviews
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
On Oxford and Sheffield panels. Causative of several disorders but ataxia is a strong component.Created: 27 Apr 2019, 7:39 p.m.
Louise Daugherty (Genomics England Curator)
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.
Tracy Lester (Genetics laboratory, Oxford UK)
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
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
- Phenotypes
-
- Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
- 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
- OMIM
- 174763
- Clinvar variants
- Variants in POLG
- Penetrance
- None
- 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 London North GMS was added to POLG.
Set Phenotypes
Louise Daugherty (Genomics England Curator)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
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to POLG.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to POLG.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked panel against panel constituents. Ready to promote to version 1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)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)