Epileptic encephalopathy
Gene: POLGEnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 32 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial DNA depletion syndrome 4B (MNGIE type); Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
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
Variants in this GENE are reported as part of current diagnostic practice
Natalie Trump (NHS - Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial DNA depletion syndrome 4B (MNGIE type); Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
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
Variants in this GENE are reported as part of current diagnostic practice
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial DNA depletion syndrome 4B (MNGIE type); Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
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
Variants in this GENE are reported as part of current diagnostic practice
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial DNA depletion syndrome 4B (MNGIE type); Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
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
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment when marking as ready: Confirmed DD gene and all 4 reviewers agree this should be green. Biallelic mode of inheritance and loss-of-function mechanism confirmed.Created: 21 Jan 2016, 11:36 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert
- UKGTN
- 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
-
- Likely inborn error of metabolism
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Mitochondrial DNA maintenance disorder
- Primary ovarian insufficiency
- Gastrointestinal neuromuscular disorders
- Adult onset neurodegenerative disorder
- Inherited white matter disorders
- Arthrogryposis
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Possible mitochondrial disorder - nuclear genes
- Early onset or syndromic epilepsy
- Hereditary ataxia
- Fetal anomalies
- DDG2P
- Hereditary neuropathy
- POLG-related disorder
- Cholestasis
- Mitochondrial liver disease, including transient infantile liver failure
- Undiagnosed metabolic disorders
- Hyperammonaemia
- Paediatric pseudo-obstruction syndrome
- Ataxia and cerebellar anomalies - narrow panel
- Optic neuropathy
- Mitochondrial disorders
- Rhabdomyolysis and metabolic muscle disorders
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Hereditary neuropathy or pain disorder
- Neonatal cholestasis
- White matter disorders and cerebral calcification - narrow panel
- Acute rhabdomyolysis
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial DNA depletion syndrome 4B (MNGIE type); Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
Set publications
Ellen McDonagh (Genomics England Curator)Publications for POLG were set to 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
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)POLG was added to Epileptic encephalopathypanel. Source: Expert Review Green
gel status update
GEL ()The Gel status was updated for this whole panel
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene POLG was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)POLG was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)POLG was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert