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
-
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Mitochondrial DNA maintenance disorder
- Acute rhabdomyolysis
- Primary ovarian insufficiency
- Gastrointestinal neuromuscular disorders
- Inherited white matter disorders
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary ataxia with onset in adulthood
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Cholestasis
- Bilateral congenital or childhood onset cataracts
- Hereditary neuropathy
- Arthrogryposis
- Early onset or syndromic epilepsy
- POLG-related disorder
- Fetal anomalies
- Mitochondrial liver disease, including transient infantile liver failure
- Hereditary neuropathy or pain disorder
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Hyperammonaemia
- Hereditary ataxia
- Paediatric pseudo-obstruction syndrome
- Optic neuropathy
- Intellectual disability
- Adult onset neurodegenerative disorder
- Mitochondrial disorders
- Rhabdomyolysis and metabolic muscle disorders
- Neonatal cholestasis
- White matter disorders and cerebral calcification - narrow panel
- Possible mitochondrial disorder - nuclear genes
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]