White matter disorders and cerebral calcification - childhood onset
Gene: POLG2EnsemblGeneIds (GRCh38): ENSG00000256525
EnsemblGeneIds (GRCh37): ENSG00000256525
OMIM: 604983, Gene2Phenotype
POLG2 is in 14 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment on mode of inheritance: Reporting and characterization of a homozygous POLG2 variant in mitochondrial DNA depletion syndrome and in an autosomal recessive epilepsy family without ophthalmoplegia (PMID 27592148; 30157269; 31286721).Created: 8 Aug 2019, 11:56 a.m. | Last Modified: 8 Aug 2019, 11:56 a.m.
Panel Version: 1.8
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
- OMIM
- 604983
- Clinvar variants
- Variants in POLG2
- Penetrance
- None
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - childhood onset
- Early onset or syndromic epilepsy
- Possible mitochondrial disorder, nuclear genes
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Rhabdomyolysis and metabolic muscle disorders
- Acute rhabdomyolysis
- Undiagnosed metabolic disorders
- Mitochondrial DNA maintenance disorder
- Inherited white matter disorders
- Mitochondrial liver disease
- Hereditary ataxia, adult onset
- Mitochondrial disorders
- Fetal anomalies
History Filter Activity
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: POLG2 were set to
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: POLG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: POLG2 was added gene: POLG2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: POLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: POLG2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4