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Epileptic encephalopathy

Gene: POLG

Green List (high evidence)

POLG (DNA polymerase gamma, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 29 panels

5 reviews

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.
21 Jan 2016, 11:36 a.m.

History Filter Activity

21 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

21 Jan 2016, Gel status: 4

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)

21 Jan 2016, Gel status: 4

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

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

POLG was added to Epileptic encephalopathypanel. Source: Expert Review Green

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

1 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene POLG was changed to BIALLELIC, autosomal or pseudoautosomal

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

POLG was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

POLG was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert