Childhood onset dystonia, chorea or related movement disorder
Gene: KCNK18

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

2 reviews

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Created: 9 Jul 2019, 4:25 p.m.
Last Modified: 9 Jul 2019, 4:25 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

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: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH panel version 0.10

Details

Mode of Inheritance

Unknown

Sources

South West GLH
Expert Review Red
London North 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

6 Dec 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to KCNK18. Mode of inheritance for gene KCNK18 was changed from to Unknown Added phenotypes MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13 for gene: KCNK18

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: KCNK18 was added gene: KCNK18 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: KCNK18 was set to

Childhood onset dystonia, chorea or related movement disorder Gene: KCNK18