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Hereditary neuropathy or pain disorder v6.148 PRNP Sarah Leigh Tag Q3_24_promote_green was removed from gene: PRNP.
Tag Q3_24_NHS_review was removed from gene: PRNP.
Hereditary neuropathy or pain disorder v6.148 PRNP Sarah Leigh reviewed gene: PRNP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v6.147 PRNP Sarah Leigh Source Expert Review Green was added to PRNP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v6.127 PRNP Arina Puzriakova Classified gene: PRNP as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.127 PRNP Arina Puzriakova Added comment: Comment on list classification: Neuropathy (predominantly sensory and autonomic) has been reported in at least 7 unrelated families with PRNP-related prion disease, which can present as an early and/or isolated feature. The scope of this panel has now been expanded to include complex forms of neuropathy and therefore this gene can be promoted to Green at the next GMS panel update.
Hereditary neuropathy or pain disorder v6.127 PRNP Arina Puzriakova Gene: prnp has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.126 PRNP Arina Puzriakova Phenotypes for gene: PRNP were changed from to Creutzfeldt-Jakob disease, OMIM:123400; dementia; autonomic neuropathy; sensory neuropathy
Hereditary neuropathy or pain disorder v6.125 PRNP Arina Puzriakova Publications for gene: PRNP were set to 24224623
Hereditary neuropathy or pain disorder v6.124 PRNP Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: PRNP.
Tag Q3_24_NHS_review tag was added to gene: PRNP.
Hereditary neuropathy or pain disorder v5.19 PRNP Alexander Rossor edited their review of gene: PRNP: Added comment: peripheral neuropathy reported as rare presentation of cjd in multiple individuals; Changed publications to: 27716661 : 24224623 : 26768678: 31953922; Changed phenotypes to: cjd, dementia, autonomic neuropathy, sensory neuropathy
Hereditary neuropathy or pain disorder v0.37 PRNP Louise Daugherty changed review comment from: Gene rated red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) Extension of panel scope but limited evidence / Broader phenotype: good evidence for ataxia/oculomotor apraxia, less for more severe phenotype. AlexRossor felt that there was sufficient evidence that this can cause a neuropathy but that this would be an unusual presentation – suggest that AR provide additional evidence for a Green rating on the WGS panel but make Red for the R78 panel; to: Gene rated red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) Extension of panel scope but limited evidence / Broader phenotype: good evidence for ataxia/oculomotor apraxia, less for more severe phenotype. Alex Rossor felt that there was sufficient evidence that this can cause a neuropathy but that this would be an unusual presentation – suggest that Alex Rossor provide additional evidence for a Green rating on the WGS panel but make Red for the R78 panel
Hereditary neuropathy or pain disorder v0.37 PRNP Louise Daugherty changed review comment from: Gene rated red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) Extension of panel scope but limited evidence / Broader phenotype: good evidence for ataxia/oculomotor apraxia, less for more severe phenotype; to: Gene rated red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) Extension of panel scope but limited evidence / Broader phenotype: good evidence for ataxia/oculomotor apraxia, less for more severe phenotype. AlexRossor felt that there was sufficient evidence that this can cause a neuropathy but that this would be an unusual presentation – suggest that AR provide additional evidence for a Green rating on the WGS panel but make Red for the R78 panel
Hereditary neuropathy or pain disorder v0.37 PRNP Louise Daugherty changed review comment from: 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/.
AlexRossor felt that there was sufficient evidence that this can cause a neuropathy but that this would be an unusual presentation – suggest that AR provide additional evidence for a Green rating on the WGS panel but make Red for the R78 panel; to: 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 v0.37 PRNP Louise Daugherty edited their review of gene: PRNP: Changed rating: RED
Hereditary neuropathy or pain disorder v0.37 PRNP Louise Daugherty commented on gene: PRNP: Gene rated red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) Extension of panel scope but limited evidence / Broader phenotype: good evidence for ataxia/oculomotor apraxia, less for more severe phenotype
Hereditary neuropathy or pain disorder v0.18 PRNP Louise Daugherty Classified gene: PRNP as Red List (low evidence)
Hereditary neuropathy or pain disorder v0.18 PRNP Louise Daugherty Gene: prnp has been classified as Red List (Low Evidence).
Hereditary neuropathy or pain disorder v0.17 PRNP Louise Daugherty Classified gene: PRNP as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.17 PRNP 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/.
AlexRossor felt that there was sufficient evidence that this can cause a neuropathy but that this would be an unusual presentation – suggest that AR provide additional evidence for a Green rating on the WGS panel but make Red for the R78 panel
Hereditary neuropathy or pain disorder v0.17 PRNP Louise Daugherty Gene: prnp has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.1 PRNP Ellen McDonagh gene: PRNP was added
gene: PRNP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review,Expert Review Green
Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRNP were set to 24224623