| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.438 | GMPR | Zornitza Stark Marked gene: GMPR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.438 | GMPR | Zornitza Stark Gene: gmpr has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.436 | GMPR | Bryony Thompson Classified gene: GMPR as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.436 | GMPR | Bryony Thompson Added comment: Comment on list classification: Insufficient evidence currently. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.436 | GMPR | Bryony Thompson Gene: gmpr has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.435 | GMPR |
Bryony Thompson gene: GMPR was added gene: GMPR was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: GMPR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GMPR were set to 31600844 Phenotypes for gene: GMPR were set to progressive external ophthalmoplegia Review for gene: GMPR was set to AMBER Added comment: A heterozygous missense was identified in a case with late-onset adPEO and multiple mtDNA deletions in the cases skeletal muscle. GMPR deficiency was confirmed, but marked defects of mtDNA replication or nucleotide homeostasis was not demonstrated in patient cells. No other functional assays conducted. Sources: Literature |
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