Pharmacogenomics_Paediatric
Gene: POLGEnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 31 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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: OtherCreated: 14 Aug 2020, 4:25 a.m.
Mode of inheritance
Other
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Alpers syndrome
- OMIM
- 174763
- Clinvar variants
- Variants in POLG
- Penetrance
- None
- Publications
- Panels with this gene
-
- Stroke
- Prepair 1000+
- Liver Failure_Paediatric
- Hereditary Neuropathy - complex
- Optic Atrophy
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Early-onset Parkinson disease
- Leukodystrophy - paediatric
- Mendeliome
- Pharmacogenomics_Paediatric
- Prepair 500+
- Ataxia - paediatric
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Cholestasis
- Gastrointestinal neuromuscular disease
- Mitochondrial disease
- Congenital ophthalmoplegia
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Regression
- Progressive Myoclonic Epilepsy
- Early-onset Dementia
- Fetal anomalies
- Additional findings_Paediatric
- Ataxia - adult onset
- Hyperammonaemia
- Cataract
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: polg has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: POLG were changed from to Alpers syndrome
Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of pathogenicity for gene: POLG was changed from Other to None
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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: polg has been classified as Amber List (Moderate Evidence).
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