Paroxysmal central nervous system disorders
Gene: KCNJ18Ensembl identifier not available for GRCh37(release 82)Created: 8 Jul 2020, 12:59 p.m. | Last Modified: 8 Jul 2020, 12:59 p.m.
Panel Version: 1.3
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
Unknown
Phenotypes
Thyrotoxic periodic paralysis, susceptibility to, 2, 613239
Tag ensembl_ids_known_missing tag was added to gene: KCNJ18.
Gene: kcnj18 has been classified as Red List (Low Evidence).
Phenotypes for gene: KCNJ18 were changed from Hypokalemic Periodic Paralysis, Type 1 to Thyrotoxic periodic paralysis, susceptibility to, 2, 613239; Hypokalemic Periodic Paralysis, Type 1
Source NHS GMS was added to KCNJ18.
Source London North GLH was added to KCNJ18.
Source Wessex and West Midlands GLH was added to KCNJ18.
Added phenotypes Hypokalemic Periodic Paralysis, Type 1 for gene: KCNJ18
gene: KCNJ18 was added gene: KCNJ18 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red Mode of inheritance for gene: KCNJ18 was set to Publications for gene: KCNJ18 were set to 20074522 Phenotypes for gene: KCNJ18 were set to Hypokalemic Periodic Paralysis, Type 1