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Genetic epilepsy syndromes

Gene: POLG

Green List (high evidence)

POLG (DNA polymerase gamma, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 28 panels

8 reviews

Helen Lord (Oxford Medical Genetics Laboratories)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Rebecca Foulger (Genomics England curator)

I don't know

Kept rating as Green based on Green post-Webex review from Helen Lord.
Created: 9 Sep 2019, 10:38 a.m. | Last Modified: 9 Sep 2019, 10:38 a.m.
Panel Version: 1.320
Review and rating collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene was re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy.
Created: 5 Sep 2019, 2:26 p.m. | Last Modified: 9 Sep 2019, 10:38 a.m.
Panel Version: 1.320
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AD and AR PEO and AR mitochondrial DNA depletion syndrome. Epilepsy/seizures are a feature of mitochondrial DNA depletion syndrome.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 4A (Alpers type),203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type),613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE),607459; Progressive external ophthalmoplegia,157640; Progressive external ophthalmoplegia,258450

Publications

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

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)

Green List (high evidence)

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)

Green List (high evidence)

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)

Green List (high evidence)

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.

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to POLG.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to POLG.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: Comment when marking as ready:

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to POLG. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

POLG was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert,UKGTN

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

POLG was created by Sarah Leigh