This Panel is marked as Deleted
Mitochondrial disorders Victorian Clinical Genetics Services
Gene: POLG2
POLG2 (DNA polymerase gamma 2, accessory subunit)
EnsemblGeneIds (GRCh38): ENSG00000256525
EnsemblGeneIds (GRCh37): ENSG00000256525
OMIM: 604983, Gene2Phenotype
POLG2 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000256525
EnsemblGeneIds (GRCh37): ENSG00000256525
OMIM: 604983, Gene2Phenotype
POLG2 is in 14 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 604983
- Clinvar variants
- Variants in POLG2
- Penetrance
- None
- Panels with this gene
-
- Mitochondrial liver disease, including transient infantile liver failure
- Fetal anomalies
- Mitochondrial DNA maintenance disorder
- Mitochondrial disorders
- Hereditary ataxia with onset in adulthood
- Rhabdomyolysis and metabolic muscle disorders
- Early onset or syndromic epilepsy
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Possible mitochondrial disorder - nuclear genes
- Likely inborn error of metabolism
- Acute rhabdomyolysis
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)POLG2 was added to Mitochondrial disorders Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)POLG2 was created by Sarah Leigh