Adult onset movement disorderGene: KCNK18
This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH and London North GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED
Created: 19 Jun 2019, 4:36 p.m.
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 1:19 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 12:18 p.m.
PMID 20871611 describes a variant in a large pedigree. 25324165 detected additional variants in patient with migraine, but also in controls. 22355750 showed that unaffected individuals can carry loss of function variants. No reports of movement disorder associated with gene.
Created: 23 Apr 2019, 12:14 p.m.
MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13
Gene: kcnk18 has been classified as Red List (Low Evidence).
Source London North GLH was added to KCNK18.
Added phenotypes MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13 for gene: KCNK18 Publications for gene KCNK18 were changed from 20871611; 22355750 to 22355750; 20871611
Source NHS GMS was added to KCNK18.
Source South West GLH was added to KCNK18.
gene: KCNK18 was added gene: KCNK18 was added to Adult onset movement disorder. Sources: Expert Review Amber Mode of inheritance for gene: KCNK18 was set to Publications for gene: KCNK18 were set to 20871611; 22355750 Phenotypes for gene: KCNK18 were set to MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13