| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hereditary neuropathy or pain disorder v3.83 | APOA1 | Alexander Rossor commented on gene: APOA1: 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 v0.26 | APOA1 | Louise Daugherty Classified gene: APOA1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.26 | APOA1 | Louise Daugherty Gene: apoa1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.25 | APOA1 | Louise Daugherty commented on gene: APOA1: 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 v0.25 | APOA1 |
Louise Daugherty changed review comment from: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart).. Extension of panel scope - minor feature. Amyloidosis - most cases visceral amyloidosis but 1 family with neurological phenotype- rate Red. R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.; to: Gene remains rated as Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart).. Extension of panel scope - minor feature. Amyloidosis - most cases visceral amyloidosis but 1 family with neurological phenotype- rate Red. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.25 | APOA1 | Louise Daugherty edited their review of gene: APOA1: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.1 | APOA1 |
Ellen McDonagh gene: APOA1 was added gene: APOA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: APOA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: APOA1 were set to 23730806 Phenotypes for gene: APOA1 were set to Renal failure, Axonal sensory-motor neuropathy similar to TTR FAP, amyloid nephropathy |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||