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Paroxysmal central nervous system disorders v0.125 | KCNA1 | Rebecca Foulger Marked gene: KCNA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.125 | KCNA1 | Rebecca Foulger Gene: kcna1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.125 | KCNA1 | Rebecca Foulger Mode of inheritance for gene: KCNA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.27 | KCNA1 | Rebecca Foulger Source NHS GMS was added to KCNA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.26 | KCNA1 | Rebecca Foulger commented on gene: KCNA1: 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 | KCNA1 | James Polke reviewed gene: KCNA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.24 | KCNA1 | Rebecca Foulger Source London North GLH was added to KCNA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.23 | KCNA1 | Rebecca Foulger reviewed gene: KCNA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.22 | KCNA1 | Tracy Lester reviewed gene: KCNA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Episodic Ataxia, type 1 (Episodic ataxia/myokymia syndrome), 160120; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.21 | KCNA1 | Rebecca Foulger Source Wessex and West Midlands GLH was added to KCNA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.3 | KCNA1 | Ellen McDonagh Added phenotypes Episodic Ataxia; EPISODIC ATAXIA, TYPE 1; Episodic ataxia/myokymia syndrome, 160120; EA1; Myokymia; myokymia with periodic ataxia; Episodic Ataxia, Type 1 for gene: KCNA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.2 | KCNA1 |
Ellen McDonagh gene: KCNA1 was added gene: KCNA1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNA1 were set to 17575281 Phenotypes for gene: KCNA1 were set to Episodic Ataxia; EPISODIC ATAXIA, TYPE 1; Episodic ataxia/myokymia syndrome, 160120; EA1; Myokymia; myokymia with periodic ataxia; Episodic Ataxia, Type 1 |