| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary neuropathy or pain disorder v0.40 | VRK1 |
Louise Daugherty changed review comment from: Gene rated Green: From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) New evidence/re-evaluation of evidence - promotion to Green / Additional evidence: PMID:30847374 cites 2 other cases with neuropathy & unpublished evidence; to: Gene rated Amber: From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) New evidence/re-evaluation of evidence - promotion to Green / Additional evidence: PMID:30847374 cites 2 other cases with neuropathy & unpublished evidence. |
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| Hereditary neuropathy or pain disorder v0.40 | VRK1 | Louise Daugherty Classified gene: VRK1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.40 | VRK1 | Louise Daugherty Gene: vrk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.39 | VRK1 |
Louise Daugherty commented on gene: VRK1: Gene rated Green: From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) New evidence/re-evaluation of evidence - promotion to Green / Additional evidence: PMID:30847374 cites 2 other cases with neuropathy & unpublished evidence |
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| Hereditary neuropathy or pain disorder v0.21 | VRK1 | Louise Daugherty commented on gene: VRK1: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.1 | VRK1 |
Ellen McDonagh gene: VRK1 was added gene: VRK1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Expert Review Amber,London North GLH,Expert list Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VRK1 were set to 30847374 Phenotypes for gene: VRK1 were set to Distal hereditary motor neuropathy |
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