Hereditary ataxia
Gene: POLGEnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 32 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Mode of inheritance from reviewer.Created: 24 Aug 2016, 12:44 p.m.
Damian Smedley (Genomics England Curator)
Comment on list classification: Evidence from expert reviewer and OMIMCreated: 4 Feb 2016, 2:15 p.m.
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Fine. Lots of literature, positives in our cohort. Mode of inheritance: AD/AR. Autosomal dominant may be dominant negative mechanism.Created: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
- OMIM
- 174763
- Clinvar variants
- Variants in POLG
- Penetrance
- Complete
- Panels with this gene
-
- Mitochondrial DNA maintenance disorder
- Acute rhabdomyolysis
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- DDG2P
- Primary ovarian insufficiency
- Ataxia and cerebellar anomalies - narrow panel
- Gastrointestinal neuromuscular disorders
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Paediatric pseudo-obstruction syndrome
- Hereditary neuropathy
- Fetal anomalies
- Arthrogryposis
- POLG-related disorder
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Mitochondrial liver disease, including transient infantile liver failure
- Bilateral congenital or childhood onset cataracts
- White matter disorders and cerebral calcification - narrow panel
- Early onset or syndromic epilepsy
- Undiagnosed metabolic disorders
- Hyperammonaemia
- Hereditary ataxia
- Rhabdomyolysis and metabolic muscle disorders
- Cholestasis
- Hereditary neuropathy or pain disorder
- Possible mitochondrial disorder - nuclear genes
- Mitochondrial disorders
- Neonatal cholestasis
- Likely inborn error of metabolism
- Optic neuropathy
History Filter Activity
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for POLG was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)POLG was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)POLG was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN