Paroxysmal central nervous system disorders
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.Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23
Episodic ataxiaCreated: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Episodic Ataxia, type 1 (Episodic ataxia/myokymia syndrome), 160120
Variants in this GENE are reported as part of current diagnostic practice
Gene: kcna1 has been classified as Green List (High Evidence).
Mode of inheritance for gene: KCNA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source NHS GMS was added to KCNA1.
Source London North GLH was added to KCNA1.
Source Wessex and West Midlands GLH was added to KCNA1.
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
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