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| Hereditary neuropathy or pain disorder v0.92 | FBXO38 | Louise Daugherty changed review comment from: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope but limited evidence / SMA - limited evidence, some functional work but not strong - Amber? 2 families one very large segregating gene, possibly green if test Group supports rating?; to: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope but limited evidence / SMA - limited evidence, some functional work but not strong - Amber? 2 families one very large segregating gene, possibly green if test Group supports rating? | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.55 | FBXO38 | Louise Daugherty commented on gene: FBXO38: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope but limited evidence / SMA - limited evidence, some functional work but not strong - Amber? 2 families one very large segregating gene, possibly green if test Group supports rating? | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.55 | FBXO38 | Louise Daugherty Classified gene: FBXO38 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.55 | FBXO38 | Louise Daugherty Added comment: Comment on list classification: 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 v0.55 | FBXO38 | Louise Daugherty Gene: fbxo38 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.1 | FBXO38 |
Ellen McDonagh gene: FBXO38 was added gene: FBXO38 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review Mode of inheritance for gene: FBXO38 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBXO38 were set to 24207122 Phenotypes for gene: FBXO38 were set to Neuronopathy, distal hereditary motor, type IID, 615575 |
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