Acute rhabdomyolysis
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
1 review
Arina Puzriakova (Genomics England Curator)
This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.Created: 16 Feb 2022, 2:32 p.m. | Last Modified: 16 Feb 2022, 2:32 p.m.
Panel Version: 0.6
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131
- OMIM
- 604983
- Clinvar variants
- Variants in POLG2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Possible mitochondrial disorder - nuclear genes
- Acute rhabdomyolysis
- Fetal anomalies
- White matter disorders and cerebral calcification - narrow panel
- Undiagnosed metabolic disorders
- Mitochondrial liver disease, including transient infantile liver failure
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- Mitochondrial DNA maintenance disorder
- Hereditary ataxia with onset in adulthood
- Rhabdomyolysis and metabolic muscle disorders
- Likely inborn error of metabolism
History Filter Activity
19 Jan 2022, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: POLG2 was added gene: POLG2 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: POLG2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: POLG2 were set to 21555342; 16685652 Phenotypes for gene: POLG2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131