| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hereditary neuropathy or pain disorder v0.92 | DNAJB2 | Louise Daugherty Classified gene: DNAJB2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.92 | DNAJB2 | Louise Daugherty Gene: dnajb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.91 | DNAJB2 | 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? Reviewed initially as Amber due to single reported variant in 2016, however now multiple case series Frontiers in Molecular biosciences doi: 10.3389/fmolb.2016.00081 cites 10 cases (PMID: 28018906); to: 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? Reviewed initially as Amber due to single reported variant in 2016, however now multiple case series Frontiers in Molecular biosciences doi: 10.3389/fmolb.2016.00081 cites 10 cases (PMID: 28018906) recessive CMT/ HMN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.91 | DNAJB2 | 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? Reviewed initially as Amber due to single reported variant in 2016, however now multiple case series Frontiers in Molecular biosciences doi: 10.3389/fmolb.2016.00081 cites 10 cases. ; to: 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? Reviewed initially as Amber due to single reported variant in 2016, however now multiple case series Frontiers in Molecular biosciences doi: 10.3389/fmolb.2016.00081 cites 10 cases (PMID: 28018906) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.91 | DNAJB2 | Louise Daugherty changed review comment from: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart)/ Green for larger panel only as main phenotype is distal SMA; AR to provide further references; to: 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? Reviewed initially as Amber due to single reported variant in 2016, however now multiple case series Frontiers in Molecular biosciences doi: 10.3389/fmolb.2016.00081 cites 10 cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.36 | DNAJB2 | Louise Daugherty commented on gene: DNAJB2: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart)/ Green for larger panel only as main phenotype is distal SMA; AR to provide further references | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.10 | DNAJB2 | Louise Daugherty Classified gene: DNAJB2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.10 | DNAJB2 | 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 v0.10 | DNAJB2 | Louise Daugherty Gene: dnajb2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.1 | DNAJB2 |
Ellen McDonagh gene: DNAJB2 was added gene: DNAJB2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,Expert Review Red,South West GLH Mode of inheritance for gene: DNAJB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJB2 were set to 26752306; 25274842 Phenotypes for gene: DNAJB2 were set to Hereditary Neuropathies |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||