Gastrointestinal neuromuscular disease
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
3 unrelated cases have been reported with gastrointestinal symptoms and 3 different heterozygous missense (L153V, R369G, S423Y). All 3 missense are too common in gnomAD v2.1 for a dominant disease and biochemical assays demonstrated normal function for all expect R369G variants had reduced stimulation of processivity and decreased affinity for the catalytic subunit.
Sources: Expert listCreated: 15 Jul 2020, 1:38 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 MIM#610131
Publications
Gene: polg2 has been classified as Red List (Low Evidence).
gene: POLG2 was added gene: POLG2 was added to Gastrointestinal neuromuscular disease. Sources: Expert list Mode of inheritance for gene: POLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POLG2 were set to 21555342; 27775730 Phenotypes for gene: POLG2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 MIM#610131 Review for gene: POLG2 was set to RED