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
-
- Neonatal cholestasis
- Possible mitochondrial disorder - nuclear genes
- Fetal anomalies
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Bilateral congenital or childhood onset cataracts
- Undiagnosed metabolic disorders
- Hereditary neuropathy
- Mitochondrial DNA maintenance disorder
- Hereditary neuropathy or pain disorder
- Intellectual disability
- Early onset or syndromic epilepsy
- DDG2P
- Primary ovarian insufficiency
- Gastrointestinal neuromuscular disorders
- Inherited white matter disorders
- Ataxia and cerebellar anomalies - narrow panel
- Acute rhabdomyolysis
- Hereditary ataxia with onset in adulthood
- Hereditary ataxia
- POLG-related disorder
- Cholestasis
- Mitochondrial liver disease, including transient infantile liver failure
- Childhood onset dystonia, chorea or related movement disorder
- Optic neuropathy
- Hyperammonaemia
- Adult onset neurodegenerative disorder
- Paediatric pseudo-obstruction syndrome
- Likely inborn error of metabolism
- Mitochondrial disorders
- White matter disorders and cerebral calcification - narrow panel
- Rhabdomyolysis and metabolic muscle disorders
- Arthrogryposis
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