Cataract
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)
Cataracts are described in individuals with bi-allelic and mono-allelic POLG variants.Created: 7 Jul 2020, 3:14 a.m. | Last Modified: 7 Jul 2020, 3:14 a.m.
Panel Version: 0.159
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
POLG-related disorders
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- POLG-related disorders
- 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
7 Jul 2020, 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).
7 Jul 2020, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: POLG were changed from to POLG-related disorders
7 Jul 2020, Gel status: 3
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: POLG were set to
7 Jul 2020, Gel status: 3
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: POLG was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: POLG was added gene: POLG was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POLG was set to Unknown