Activity
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17 actions
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| Hereditary neuropathy v1.368 | SYT2 | Louise Daugherty commented on gene: SYT2: As a result of watchlist tag audit the watchlist tag was kept as still relevant to this gene, it was made green on this panel as it represents a broad phenotype | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.363 | SYT2 | Louise Daugherty Phenotypes for gene: SYT2 were changed from Myasthenic syndrome, congenital, 7, presynaptic to Myasthenic syndrome, congenital, 7, presynaptic, 616040 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.360 | SYT2 | Louise Daugherty Mode of inheritance for gene: SYT2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.353 | SYT2 |
Louise Daugherty Source Expert Review Green was added to SYT2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary neuropathy v1.352 | SYT2 | Louise Daugherty edited their review of gene: SYT2: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.80 | SYT2 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.80 | SYT2 | Louise Daugherty commented on gene: SYT2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.63 | SYT2 | Louise Daugherty commented on gene: SYT2: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.60 | SYT2 |
Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 7, presynaptic for gene: SYT2 Publications for gene SYT2 were changed from 25192047; 26519543 to 26519543; 30533528 |
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| Hereditary neuropathy v1.58 | SYT2 | Natalie Forrester reviewed gene: SYT2: Rating: AMBER; Mode of pathogenicity: ; Publications: 30533528, 26519543; Phenotypes: Myasthenic syndrome, congenital, 7, presynaptic; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.56 | SYT2 | Louise Daugherty Source South West GLH was added to SYT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.55 | SYT2 | Louise Daugherty reviewed gene: SYT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.52 | SYT2 | James Polke reviewed gene: SYT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.51 | SYT2 | Louise Daugherty Source NHS GMS was added to SYT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.50 | SYT2 | Louise Daugherty Source London North GLH was added to SYT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy | SYT2 | Ellen McDonagh commented on gene: SYT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy | SYT2 | Ellen McDonagh classified SYT2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||