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  2. GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH
  3. KCNK18
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GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH

Gene: KCNK18

Red List (low evidence)
KCNK18 (potassium two pore domain channel subfamily K member 18)
EnsemblGeneIds (GRCh38): ENSG00000186795
EnsemblGeneIds (GRCh37): ENSG00000186795
OMIM: 613655, Gene2Phenotype
KCNK18 is in 6 panels

1 review

Emily Jones (North Bristol NHS Trust)

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: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Created: 9 Jul 2019, 3:59 p.m.
Last Modified: 9 Jul 2019, 3:59 p.m.
Panel version: 0.10

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • South West GLH
Phenotypes
  • MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13
OMIM
613655
Clinvar variants
Variants in KCNK18
Penetrance
None
Panels with this gene

History Filter Activity

9 Jul 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene KCNK18 was changed from to Unknown Added phenotypes MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13 for gene: KCNK18

2 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to KCNK18.

2 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: KCNK18 was added gene: KCNK18 was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: KCNK18 was set to