Activity
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7 actions
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| Pain syndromes v0.6 | MPV17 | Bryony Thompson Marked gene: MPV17 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pain syndromes v0.6 | MPV17 | Bryony Thompson Gene: mpv17 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pain syndromes v0.6 | MPV17 | Bryony Thompson Classified gene: MPV17 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pain syndromes v0.6 | MPV17 | Bryony Thompson Gene: mpv17 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pain syndromes v0.5 | MPV17 | Bryony Thompson reviewed gene: MPV17: Rating: RED; Mode of pathogenicity: None; Publications: 22508010, 29282788; Phenotypes: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MIM#256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pain syndromes v0.3 | MPV17 |
Zornitza Stark Source Expert Review Amber was added to MPV17. Added phenotypes Navajo neurohepatopathy; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810; Pain insensitivity for gene: MPV17 Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Pain syndromes v0.0 | MPV17 |
Zornitza Stark gene: MPV17 was added gene: MPV17 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPV17 were set to 16582910; 16909392; 23714749; 22508010; 185990; 11431741 Phenotypes for gene: MPV17 were set to Navajo neurohepatopathy; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810; Pain insensitivity |
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