Brain channelopathy

Gene: KCNK18

Comment on list classification: Marked as amber as only 1 pedigree has been described with mutations in this gene

Created: 23 Jan 2017, 2:47 p.m.

Red List (low evidence)

One loss of function mutation reported in one family with typical familial migraine with aura.
Some missense variants are also present in controls (A233V variant was found only in a control cohort, whilst A34V was identified in a single proband with migraine, but it was not detected in controls. R10G, C110R, and S231P variants were found in both patients and controls cohorts). Hence missense variants need further assessment of pathogenicity.

Created: 6 Jan 2017, 5:20 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
migraine with aura

Publications

• 20871611
• 22355750

Comment on list classification: Promoted from red to green as this gene is on the Brain Channel NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.

Created: 10 Jun 2016, 3:18 p.m.