Activity
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15 actions
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| Paroxysmal central nervous system disorders v1.43 | WNK1 | Arina Puzriakova Phenotypes for gene: WNK1 were changed from HSAN 2; Neuropathy, hereditary sensory and autonomic, type II, 201300; Hereditary sensory and autonomic neuropathy type IIA to Neuropathy, hereditary sensory and autonomic, type II, OMIM:201300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.151 | WNK1 | Rebecca Foulger Marked gene: WNK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.151 | WNK1 | Rebecca Foulger Gene: wnk1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.80 | WNK1 | Rebecca Foulger Classified gene: WNK1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.80 | WNK1 | Rebecca Foulger Added comment: Comment on list classification: Demoted WNK1 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 v0.80 | WNK1 | Rebecca Foulger Gene: wnk1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.27 | WNK1 | Rebecca Foulger Source NHS GMS was added to WNK1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.26 | WNK1 | Rebecca Foulger commented on gene: WNK1: 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 | WNK1 | James Polke reviewed gene: WNK1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.24 | WNK1 | Rebecca Foulger Source London North GLH was added to WNK1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.23 | WNK1 | Rebecca Foulger reviewed gene: WNK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.22 | WNK1 | Tracy Lester reviewed gene: WNK1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type II, 201300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.21 | WNK1 | Rebecca Foulger Source Wessex and West Midlands GLH was added to WNK1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.3 | WNK1 | Ellen McDonagh Added phenotypes HSAN 2; Neuropathy, hereditary sensory and autonomic, type II, 201300; Hereditary sensory and autonomic neuropathy type IIA for gene: WNK1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.2 | WNK1 |
Ellen McDonagh gene: WNK1 was added gene: WNK1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: WNK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WNK1 were set to 21625937; 15911806; 18521183; 15455397; 15060842; 16636245; 16946995 Phenotypes for gene: WNK1 were set to HSAN 2; Neuropathy, hereditary sensory and autonomic, type II, 201300; Hereditary sensory and autonomic neuropathy type IIA |
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