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| Hereditary neuropathy or pain disorder v1.90 | ELP1 | Arina Puzriakova Phenotypes for gene: ELP1 were changed from Dysautonomia, familial, 223900 to Dysautonomia, familial, OMIM:223900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.49 | ELP1 | Louise Daugherty changed review comment from: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Familial dysautonomia - appropriate for panel Keep green; to: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Familial dysautonomia - appropriate for panel. autonomic neuropathy - relevant to both panels (narrow and broad). Keep green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.49 | ELP1 | Louise Daugherty commented on gene: ELP1: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Familial dysautonomia - appropriate for panel Keep green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.49 | ELP1 | Louise Daugherty edited their review of gene: ELP1: Added comment: 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/.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.1 | ELP1 |
Ellen McDonagh gene: ELP1 was added gene: ELP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH Mode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ELP1 were set to 26392352 Phenotypes for gene: ELP1 were set to Dysautonomia, familial, 223900 |
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