Stroke
Gene: POLG
POLG (DNA polymerase gamma, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 31 panels
EnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 31 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Stroke-like episodes reported.Created: 17 Mar 2021, 3:58 a.m. | Last Modified: 17 Mar 2021, 3:58 a.m.
Panel Version: 0.96
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
POLG-related MELAS
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- POLG-related MELAS
- 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
17 Mar 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: polg has been classified as Green List (High Evidence).
17 Mar 2021, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: POLG were changed from to POLG-related MELAS
17 Mar 2021, Gel status: 3
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: POLG were set to
22 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)gene: POLG was added gene: POLG was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal