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| Paroxysmal central nervous system disorders v0.140 | CLCN1 | Rebecca Foulger Marked gene: CLCN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.140 | CLCN1 | Rebecca Foulger Gene: clcn1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.34 | CLCN1 | Rebecca Foulger Classified gene: CLCN1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.34 | CLCN1 | Rebecca Foulger Added comment: Comment on list classification: Demoted CLCN1 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 v0.34 | CLCN1 | Rebecca Foulger Gene: clcn1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.27 | CLCN1 | Rebecca Foulger Source NHS GMS was added to CLCN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.26 | CLCN1 | Rebecca Foulger commented on gene: CLCN1: 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 | CLCN1 | James Polke reviewed gene: CLCN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.24 | CLCN1 | Rebecca Foulger Source London North GLH was added to CLCN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.23 | CLCN1 | Rebecca Foulger reviewed gene: CLCN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.22 | CLCN1 | Tracy Lester reviewed gene: CLCN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Myotonia congenita, recessive, 255700, Myotonia congenita, dominant, 160800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.21 | CLCN1 | Rebecca Foulger Source Wessex and West Midlands GLH was added to CLCN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.3 | CLCN1 | Ellen McDonagh Added phenotypes Myotonia levior, recessive; Myotonia congenita, recessive, 255700; Hyperkalemic Periodic Paralysis; Myotonia Congenita; Myotonia; Myotonia congenita, dominant, 160800 for gene: CLCN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.2 | CLCN1 |
Ellen McDonagh gene: CLCN1 was added gene: CLCN1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: CLCN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CLCN1 were set to 11840191; 18337100; 22649220 Phenotypes for gene: CLCN1 were set to Myotonia levior, recessive; Myotonia congenita, recessive, 255700; Hyperkalemic Periodic Paralysis; Myotonia Congenita; Myotonia; Myotonia congenita, dominant, 160800 |
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