Paroxysmal central nervous system disorders
Gene: CACNA1S
Comment on list classification: Demoted CACNA1S from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.Created: 9 Sep 2019, 2:43 p.m. | Last Modified: 9 Sep 2019, 2:43 p.m.
Panel Version: 0.33
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
Not a CNS disorderCreated: 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
Hypokalemic periodic paralysis, type 1, 170400
Gene: cacna1s has been classified as Red List (Low Evidence).
Gene: cacna1s has been classified as Red List (Low Evidence).
Source NHS GMS was added to CACNA1S.
Source London North GLH was added to CACNA1S.
Source Wessex and West Midlands GLH was added to CACNA1S.
Added phenotypes Hypokalemic periodic paralysis, type 1, 170400 for gene: CACNA1S
gene: CACNA1S was added gene: CACNA1S was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CACNA1S were set to 15534250; 18835861 Phenotypes for gene: CACNA1S were set to Hypokalemic periodic paralysis, type 1, 170400