Cholestasis
Gene: POLGEnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 31 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Liver cirrhosis and failure rather than specifically cholestasis.Created: 9 Aug 2020, 10:52 a.m. | Last Modified: 9 Aug 2020, 10:52 a.m.
Panel Version: 0.154
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700
- OMIM
- 174763
- Clinvar variants
- Variants in POLG
- Penetrance
- None
- 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 Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: POLG were changed from to Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: POLG was changed from Unknown 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 Red List (Low Evidence).
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 Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POLG was set to Unknown