Activity
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10 actions
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| Hereditary neuropathy or pain disorder v5.16 | PLP1 |
Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: PLP1. Tag Q2_24_NHS_review was removed from gene: PLP1. |
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| Hereditary neuropathy or pain disorder v5.16 | PLP1 | Achchuthan Shanmugasundram reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.15 | PLP1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PLP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary neuropathy or pain disorder v4.11 | PLP1 |
Sarah Leigh Tag Q2_24_promote_green tag was added to gene: PLP1. Tag Q2_24_NHS_review tag was added to gene: PLP1. |
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| Hereditary neuropathy or pain disorder v4.11 | PLP1 | Sarah Leigh reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 2, X-linked, OMIM:312920, Pelizaeus-Merzbacher disease, OMIM:312080; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.83 | PLP1 | Alexander Rossor edited their review of gene: PLP1: Added comment: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46; Changed publications to: 12601703 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.86 | PLP1 | Louise Daugherty commented on gene: PLP1: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - minor feature / Broader phenotype: Pelizaeus-Merbacher/Spastic paraplegia 2 - is neuropathy a feature? | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.84 | PLP1 | Louise Daugherty commented on gene: PLP1: 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 | PLP1 |
Louise Daugherty Source Expert Review Amber was added to PLP1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Hereditary neuropathy or pain disorder v0.1 | PLP1 |
Ellen McDonagh gene: PLP1 was added gene: PLP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,Expert Review Red,South West GLH Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PLP1 were set to Hereditary Neuropathies |
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