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