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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