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| Gastrointestinal neuromuscular disease v0.28 | POLG2 | Bryony Thompson Marked gene: POLG2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disease v0.28 | POLG2 | Bryony Thompson Gene: polg2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disease v0.28 | POLG2 |
Bryony Thompson 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 Added comment: 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 list |
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