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| Hereditary neuropathy or pain disorder v3.83 | PDYN | Alexander Rossor commented on gene: PDYN: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.86 | PDYN | Louise Daugherty commented on gene: PDYN: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - minor feature / Broader phenotype: SCA with mild neuropathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.84 | PDYN | Louise Daugherty commented on gene: PDYN: 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 v0.83 | PDYN |
Louise Daugherty Source Expert Review Amber was added to PDYN. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Hereditary neuropathy or pain disorder v0.1 | PDYN |
Ellen McDonagh gene: PDYN was added gene: PDYN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: PDYN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PDYN were set to 21035104 Phenotypes for gene: PDYN were set to Spinocerebellar ataxia 23, 610245; Cerebellar ataxia, sensory-motor axonal neuropathy |
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