Acute rhabdomyolysis
Gene: POLG
POLG (DNA polymerase gamma, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 32 panels
EnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 32 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, autosomal recessive 1, OMIM:258450
- Progressive external ophthalmoplegia, autosomal dominant 1, OMIM:157640
- OMIM
- 174763
- Clinvar variants
- Variants in POLG
- Penetrance
- None
- Publications
- Panels with this gene
-
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Bilateral congenital or childhood onset cataracts
- White matter disorders and cerebral calcification - narrow panel
- Undiagnosed metabolic disorders
- Mitochondrial DNA maintenance disorder
- Early onset or syndromic epilepsy
- Primary ovarian insufficiency
- Gastrointestinal neuromuscular disorders
- Inherited white matter disorders
- Ataxia and cerebellar anomalies - narrow panel
- Adult onset neurodegenerative disorder
- Intellectual disability
- Hereditary ataxia with onset in adulthood
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- DDG2P
- Hereditary neuropathy
- Fetal anomalies
- POLG-related disorder
- Cholestasis
- Mitochondrial liver disease, including transient infantile liver failure
- Optic neuropathy
- Likely inborn error of metabolism
- Hyperammonaemia
- Paediatric pseudo-obstruction syndrome
- Mitochondrial disorders
- Rhabdomyolysis and metabolic muscle disorders
- Arthrogryposis
- Hereditary neuropathy or pain disorder
- Neonatal cholestasis
- Possible mitochondrial disorder - nuclear genes
- Acute rhabdomyolysis
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: POLG was added gene: POLG was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: POLG were set to 25929793; 23873972; 9443501 Phenotypes for gene: POLG were set to Progressive external ophthalmoplegia, autosomal recessive 1, OMIM:258450; Progressive external ophthalmoplegia, autosomal dominant 1, OMIM:157640