Pharmacogenomics_Paediatric

Gene: POLG

Amber List (moderate evidence)

POLG (DNA polymerase gamma, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 31 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Four individuals reported with previously undiagnosed Alpers syndrome and valproate toxicity, esp liver.
Created: 14 Aug 2020, 8:52 a.m. | Last Modified: 14 Aug 2020, 8:52 a.m.
Panel Version: 0.40

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alpers syndrome

David Metz (Royal Children's Hospital)

"POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders"
Sources: Other
Created: 14 Aug 2020, 4:25 a.m.

Mode of inheritance
Other

Publications

Mode of pathogenicity
Other

History Filter Activity

14 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: polg has been classified as Amber List (Moderate Evidence).

14 Aug 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: POLG were changed from to Alpers syndrome

14 Aug 2020, Gel status: 2

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: POLG was changed from Other to None

14 Aug 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: POLG was changed from Other to BIALLELIC, autosomal or pseudoautosomal

14 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: polg has been classified as Amber List (Moderate Evidence).

14 Aug 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set mode of pathogenicity

David Metz (Royal Children's Hospital)

gene: POLG was added gene: POLG was added to Pharmacogenomics_Paediatric. Sources: Other Mode of inheritance for gene: POLG was set to Other Publications for gene: POLG were set to 20138553 Mode of pathogenicity for gene: POLG was set to Other