| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Paroxysmal central nervous system disorders v0.148 | MPV17 | Rebecca Foulger Marked gene: MPV17 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.148 | MPV17 | Rebecca Foulger Gene: mpv17 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.84 | MPV17 | Rebecca Foulger Classified gene: MPV17 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.84 | MPV17 | Rebecca Foulger Added comment: Comment on list classification: Demoted MPV17 from Amber to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.84 | MPV17 | Rebecca Foulger Gene: mpv17 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.27 | MPV17 | Rebecca Foulger Source NHS GMS was added to MPV17. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.26 | MPV17 | Rebecca Foulger commented on gene: MPV17: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.25 | MPV17 | James Polke reviewed gene: MPV17: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.24 | MPV17 | Rebecca Foulger Source London North GLH was added to MPV17. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.23 | MPV17 | Rebecca Foulger reviewed gene: MPV17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.22 | MPV17 | Tracy Lester reviewed gene: MPV17: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.21 | MPV17 | Rebecca Foulger Source Wessex and West Midlands GLH was added to MPV17. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.3 | MPV17 | Ellen McDonagh Added phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810; Navajo neurohepatopathy; Pain insensitivity for gene: MPV17 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.2 | MPV17 |
Ellen McDonagh gene: MPV17 was added gene: MPV17 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Amber Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPV17 were set to 16582910; 23714749; 185990; 11431741; 16909392; 22508010 Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810; Navajo neurohepatopathy; Pain insensitivity |
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