Rhabdomyolysis and Metabolic Myopathy

Gene: POLG

Green List (high evidence)

POLG (DNA polymerase gamma, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 31 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Reviewed in PMID 30451971
Created: 24 Apr 2022, 8:04 a.m. | Last Modified: 24 Apr 2022, 8:04 a.m.
Panel Version: 0.13234

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Progressive external ophthalmoplegia, autosomal dominant 1, MIM# 157640

Publications

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Variable age of onset, including infancy and early childhood.
Sources: Expert list
Created: 17 Apr 2020, 12:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 4A (Alpers type) MIM#203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459; Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662
  • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459
  • Progressive external ophthalmoplegia, autosomal dominant 1 157640
  • Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700
  • Progressive external ophthalmoplegia, autosomal recessive 1 258450
OMIM
174763
Clinvar variants
Variants in POLG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: polg has been classified as Green List (High Evidence).

15 Apr 2023, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: POLG were set to

14 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: POLG was added gene: POLG was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459; Progressive external ophthalmoplegia, autosomal dominant 1 157640; Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700; Progressive external ophthalmoplegia, autosomal recessive 1 258450