Rhabdomyolysis and Metabolic Myopathy
Gene: POLG2
Mono-allelic disease: more than 10 individuals reported.
Bi-allelic disease: two reports only, one presenting with fulminant liver failure in infancy, and the other an adult with predominantly neurological phenotype. Both had missense variants. Limited evidence.Created: 18 Jul 2021, 11:20 p.m. | Last Modified: 18 Jul 2021, 11:20 p.m.
Panel Version: 0.8389
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131; Mitochondrial DNA depletion syndrome 16 , MIM# 618528
Publications
PMID: 21555342 - 11* patients with mitochondrial disease. Muscle weakness or hypotonia reported in 2/2 children.
*most patients in this study carried common polymorphisms, have been excluded from review.
PMID: 22155748 - 1 patient with adult onset (<40 years old) proximal muscle weakness
PMID: 20405137 - 1 patient with adult onset (>30 years old) muscle weakness, elevated CK levels and exercise intolerance. Variant also present in her asymptomatic brother.
PMID: 31286721;31778857 - patients with recessive mitochondrial disease do not display a myopathy phenotype.
Summary: few reports overall, no consistent age of onset.
Sources: Expert listCreated: 22 Jun 2020, 1:46 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131
Publications
Gene: polg2 has been classified as Green List (High Evidence).
Phenotypes for gene: POLG2 were changed from Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131 to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131
Publications for gene: POLG2 were set to
gene: POLG2 was added gene: POLG2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,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 610131