Dystonia - childhood onset

Gene: KCNK18

Amber List (moderate 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

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Details

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

History Filter Activity

9 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Eleanor Williams: Updated to green when making t

19 Dec 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: KCNK18 was added gene: KCNK18 was added to Dystonia - childhood onset. Sources: Expert Review Amber Mode of inheritance for gene: KCNK18 was set to Unknown Publications for gene: KCNK18 were set to 20871611; 22355750 Phenotypes for gene: KCNK18 were set to MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13