Brain channelopathy
Gene: KCNK18Comment on list classification: Marked as amber as only 1 pedigree has been described with mutations in this geneCreated: 23 Jan 2017, 2:47 p.m.
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
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.
This gene has been classified as Amber List (Moderate Evidence).
Promoted to V1. January 23 2017
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for KCNK18 were set to 20871611; 22355750
Publications for KCNK18 were set to 20871611; 22355750
Publications for KCNK18 were set to 20871611; 22355750
Publications for KCNK18 were set to 20871611; 22355750
This gene has been classified as Green List (High Evidence).
KCNK18 was added to Brain channelopathypanel. Sources: UKGTN