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| Paroxysmal central nervous system disorders v0.142 | EXT1 | Rebecca Foulger Marked gene: EXT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.142 | EXT1 | Rebecca Foulger Gene: ext1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.142 | EXT1 | Rebecca Foulger Phenotypes for gene: EXT1 were changed from Familial case of narcolepsy with cataplexy NT1 associated with multiple exostoses (one family) to Exostoses, multiple, type 1,133700; Familial case of narcolepsy with cataplexy NT1 associated with multiple exostoses (one family) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.27 | EXT1 | Rebecca Foulger Source NHS GMS was added to EXT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.26 | EXT1 | Rebecca Foulger commented on gene: EXT1: 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 | EXT1 | James Polke reviewed gene: EXT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.24 | EXT1 | Rebecca Foulger Source London North GLH was added to EXT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.23 | EXT1 | Rebecca Foulger reviewed gene: EXT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.22 | EXT1 | Tracy Lester reviewed gene: EXT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial case of narcolepsy with cataplexy NT1 associated with multiple exostoses (one family); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.21 | EXT1 | Rebecca Foulger Source Wessex and West Midlands GLH was added to EXT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.3 | EXT1 | Ellen McDonagh Added phenotypes Familial case of narcolepsy with cataplexy NT1 associated with multiple exostoses (one family) for gene: EXT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.2 | EXT1 |
Ellen McDonagh gene: EXT1 was added gene: EXT1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red Mode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EXT1 were set to 2788404; Journal Sleep Research (2012), 21(Suppl 1), P891 Phenotypes for gene: EXT1 were set to Familial case of narcolepsy with cataplexy NT1 associated with multiple exostoses (one family) Mode of pathogenicity for gene: EXT1 was set to Other - please provide details in the comments |
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