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| Paroxysmal central nervous system disorders v0.160 | VAMP2 | Rebecca Foulger commented on gene: VAMP2: Review from Robyn Labrum (University College London Hospitals) was collated (September 30th 2019) on behalf of London North GLH for the GMS Neurology specialist test group for clinical indication R66: Paroxysmal central nervous system disorders. This is a gene that was re-reviewed to reach a consensus- The comment by Robyn Labrum was expanded from previous comment. No new rating was submitted so the suggested rating remains as Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.158 | VAMP2 | Robyn Labrum commented on gene: VAMP2: Recent publication (Salpietro et al. Am J Hum Genet. 2019 Apr 4;104(4):721-730) de novo mutations in 5 unrelated individuals phenotype neurodevelopmental disorder characterized by axial hypotonia (which had been present since birth), intellectual disability, and autistic features. More severe phenotype includes additional neurological features, including central visual impairment, hyperkinetic movement disorder, and epilepsy or electroencephalography abnormalities. ?Better on intellectual disability or neurodevelopmental panel. Needs clinical input. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.123 | VAMP2 | Rebecca Foulger Mode of inheritance for gene: VAMP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.122 | VAMP2 | Rebecca Foulger Phenotypes for gene: VAMP2 were changed from to axial hypotonia; intellectual disability; autistic features; central visual impairment; hyperkinetic movement disorder; epilepsy or electroencephalography abnormalities | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.121 | VAMP2 | Rebecca Foulger Publications for gene: VAMP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.98 | VAMP2 | Rebecca Foulger commented on gene: VAMP2: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.97 | VAMP2 | Robyn Labrum reviewed gene: VAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: axial hypotonia, intellectual disability, autistic features, central visual impairment, hyperkinetic movement disorder, epilepsy or electroencephalography abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.96 | VAMP2 | Rebecca Foulger commented on gene: VAMP2: Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. This rating is for a gene (VAMP2) previously added to the panel by London North GLH. A question mark was submitted for the rating because of a question over the relevance of the phenotype, therefore I uploaded an Amber review from Penny Clouston. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.95 | VAMP2 | Penny Clouston reviewed gene: VAMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: 30929742; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.27 | VAMP2 | Rebecca Foulger Source NHS GMS was added to VAMP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.26 | VAMP2 | Rebecca Foulger reviewed gene: VAMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.25 | VAMP2 | James Polke reviewed gene: VAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.24 | VAMP2 |
Rebecca Foulger gene: VAMP2 was added gene: VAMP2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green,London North GLH Mode of inheritance for gene: VAMP2 was set to |
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