| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Paroxysmal central nervous system disorders v0.139 | ATL1 | Rebecca Foulger Marked gene: ATL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.139 | ATL1 | Rebecca Foulger Gene: atl1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.139 | ATL1 | Rebecca Foulger Phenotypes for gene: ATL1 were changed from Hereditary spastic paraplegia, 182600; Neuropathy, hereditary sensory, type ID, 613708; HSN1D; Hereditary sensory neuropathy to Spastic paraplegia 3A, autosomal dominant, 182600; Neuropathy, hereditary sensory, type ID, 613708; HSN1D; Hereditary sensory neuropathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.29 | ATL1 | Rebecca Foulger Classified gene: ATL1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.29 | ATL1 | Rebecca Foulger Added comment: Comment on list classification: Demoted ATL1 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.29 | ATL1 | Rebecca Foulger Gene: atl1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.27 | ATL1 | Rebecca Foulger Source NHS GMS was added to ATL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.26 | ATL1 | Rebecca Foulger commented on gene: ATL1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.25 | ATL1 | James Polke reviewed gene: ATL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.24 | ATL1 | Rebecca Foulger Source London North GLH was added to ATL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.23 | ATL1 | Rebecca Foulger reviewed gene: ATL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.22 | ATL1 | Tracy Lester reviewed gene: ATL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 3A, autosomal dominant, 182600, Neuropathy, hereditary sensory, type ID, 613708; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.21 | ATL1 | Rebecca Foulger Source Wessex and West Midlands GLH was added to ATL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.3 | ATL1 | Ellen McDonagh Added phenotypes Hereditary spastic paraplegia, 182600; Hereditary sensory neuropathy; HSN1D; Neuropathy, hereditary sensory, type ID, 613708 for gene: ATL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.2 | ATL1 |
Ellen McDonagh gene: ATL1 was added gene: ATL1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATL1 were set to 21194679; 22340599 Phenotypes for gene: ATL1 were set to Hereditary spastic paraplegia, 182600; Hereditary sensory neuropathy; HSN1D; Neuropathy, hereditary sensory, type ID, 613708 |
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