Pharmacogenomics_Paediatric
Gene: POLG
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
"POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders"
Sources: OtherCreated: 14 Aug 2020, 4:25 a.m.
Mode of inheritance
Other
Publications
Mode of pathogenicity
Other
Gene: polg has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: POLG were changed from to Alpers syndrome
Mode of pathogenicity for gene: POLG was changed from Other to None
Mode of inheritance for gene: POLG was changed from Other to BIALLELIC, autosomal or pseudoautosomal
Gene: polg has been classified as Amber List (Moderate Evidence).
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