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
-
- Mitochondrial DNA maintenance disorder
- Acute rhabdomyolysis
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- DDG2P
- Primary ovarian insufficiency
- Gastrointestinal neuromuscular disorders
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Adult onset neurodegenerative disorder
- Hereditary neuropathy
- Arthrogryposis
- Fetal anomalies
- Ataxia and cerebellar anomalies - narrow panel
- 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
- Undiagnosed metabolic disorders
- Hyperammonaemia
- Hereditary ataxia
- Rhabdomyolysis and metabolic muscle disorders
- Cholestasis
- Early onset or syndromic epilepsy
- Hereditary neuropathy or pain disorder
- Possible mitochondrial disorder - nuclear genes
- Mitochondrial disorders
- Neonatal cholestasis
- Likely inborn error of metabolism
- Optic neuropathy
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