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Severe Paediatric Disorders

Gene: POLG

Green List (high evidence)

POLG (DNA polymerase gamma, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 32 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: POLG; Recommended initial gene rating: Green List (high evidence); Phenotypes: Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3) | Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 (3) | Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3) | Progressive external ophthalmoplegia, autosomal dominant 1, 157640 (3) | Progressive external ophthalmoplegia, autosomal recessive 1, 258450 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive | Autosomal recessive | Autosomal dominant | Autosomal recessive
Created: 20 Feb 2020, 5:24 p.m. | Last Modified: 20 Feb 2020, 5:24 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459
  • Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662
  • Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700
  • Progressive external ophthalmoplegia, autosomal recessive 1, 258450
  • Progressive external ophthalmoplegia, autosomal dominant 1, 157640
OMIM
174763
Clinvar variants
Variants in POLG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene POLG were updated from to 30847515

20 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene POLG was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662; Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700; Progressive external ophthalmoplegia, autosomal recessive 1, 258450; Progressive external ophthalmoplegia, autosomal dominant 1, 157640 for gene: POLG

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662; Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700; Progressive external ophthalmoplegia, autosomal recessive 1, 258450; Progressive external ophthalmoplegia, autosomal dominant 1, 157640 for gene: POLG

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662; Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700; Progressive external ophthalmoplegia, autosomal recessive 1, 258450; Progressive external ophthalmoplegia, autosomal dominant 1, 157640 for gene: POLG

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Progressive external ophthalmoplegia, autosomal recessive 1, 258450; Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700; Progressive external ophthalmoplegia, autosomal dominant 1, 157640; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 for gene: POLG

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to POLG.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to POLG. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: POLG was added gene: POLG was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: POLG was set to