Adult onset dystonia, chorea or related movement disorder

Gene: KCNK18

Red List (low evidence)

Red List (low evidence)

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.

Red List (low evidence)

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.

Phenotypes
MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13

Publications

• 20871611
• 22355750