Inherited white matter disorders
Gene: POLGEnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 32 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Gene rated green and diagnostic-grade by expert reviewer. Associated with phenotype in OMIM and G2P. Numerous variants reported. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951.Created: 24 Aug 2016, 12:24 p.m.
Comment on phenotypes: Variants also reported in Progressive external ophthalmoplegia, autosomal dominant 1 157640 and Progressive external ophthalmoplegia, autosomal recessive 1 258450Created: 24 Aug 2016, 12:22 p.m.
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
- Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_675
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700
- 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
- Complete
- Publications
- Panels with this gene
-
- Mitochondrial DNA maintenance disorder
- Acute rhabdomyolysis
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- DDG2P
- Primary ovarian insufficiency
- Ataxia and cerebellar anomalies - narrow panel
- Gastrointestinal neuromuscular disorders
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Paediatric pseudo-obstruction syndrome
- Hereditary neuropathy
- Fetal anomalies
- Arthrogryposis
- POLG-related disorder
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Mitochondrial liver disease, including transient infantile liver failure
- Bilateral congenital or childhood onset cataracts
- White matter disorders and cerebral calcification - narrow panel
- Early onset or syndromic epilepsy
- Undiagnosed metabolic disorders
- Hyperammonaemia
- Hereditary ataxia
- Rhabdomyolysis and metabolic muscle disorders
- Cholestasis
- Hereditary neuropathy or pain disorder
- Possible mitochondrial disorder - nuclear genes
- Mitochondrial disorders
- Neonatal cholestasis
- Likely inborn error of metabolism
- Optic neuropathy
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459
Set publications
Sarah Leigh (Genomics England Curator)Publications for POLG were set to 25655951
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)POLG was added to Inherited white matter disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Added New Source
Ian Berry (Leeds Genetics Laboratory)POLG was added to Inherited white matter disorderspanel. Sources: Expert list
Created
Ian Berry (Leeds Genetics Laboratory)POLG was created by [email protected]