Leukodystrophy - adult onset
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)
Variable age of onset, including in adolescence. White matter changes in some affected individuals.Created: 11 May 2020, 3:49 a.m. | Last Modified: 11 May 2020, 3:49 a.m.
Panel Version: 0.59
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 4B (MNGIE type), MIM# 613662
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Royal Melbourne Hospital
- Expert Review Green
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662
- Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459
- 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
30 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: POLG was added gene: POLG was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459