This Panel is marked as Retired
Epilepsy Plus
Gene: POLG
POLG (DNA polymerase gamma, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 32 panels
EnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 32 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Expert
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 4A (Alpers type)
- Mitochondrial DNA depletion syndrome 4B (MNGIE type)
- Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
- OMIM
- 174763
- Clinvar variants
- Variants in POLG
- Penetrance
- Complete
- Publications
-
- Naviaux & Nguyen (2004) Ann Neurol 55: 706-712
- Goethem et al (2003) Eur J Hum Genet 11: 547-549
- Goethen et al (2004) Neurology 63: 1251-1257
- Panels with this gene
-
- Cholestasis
- Primary ovarian insufficiency
- Gastrointestinal neuromuscular disorders
- Inherited white matter disorders
- DDG2P
- Fetal anomalies
- Neurodegenerative disorders, adult onset
- Early onset or syndromic epilepsy
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy
- Bilateral congenital or childhood onset cataracts
- Mitochondrial DNA maintenance disorder
- Arthrogryposis
- Mitochondrial disorders
- Paediatric pseudo-obstruction syndrome
- Ataxia and cerebellar anomalies - childhood onset
- Undiagnosed metabolic disorders
- POLG-related disorder
- Hyperammonaemia
- Hereditary ataxia
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Rhabdomyolysis and metabolic muscle disorders
- Intellectual disability
- Possible mitochondrial disorder, nuclear genes
- Optic neuropathy
- Neonatal cholestasis
- Hereditary ataxia, adult onset
- Acute rhabdomyolysis
- Mitochondrial liver disease
- White matter disorders and cerebral calcification - childhood onset
- Hereditary neuropathy or pain disorder
History Filter Activity
8 Sep 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)POLG was created by ellenmcdonagh
8 Sep 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)POLG was added to Epilepsy Pluspanel. Sources: UKGTN,Expert,Expert Review Green