KCNK18

potassium two pore domain channel subfamily K member 18
OMIM: 613655, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Amber KCNK18 in Brain channelopathy

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.80

review Not set
Sources
  • Expert Review Amber
  • UKGTN
Phenotypes
  • MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13
Amber KCNK18 in Paroxysmal central nervous system disorders


Version 3.10
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
  • London North GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Migraine, with or without aura, susceptibility to, 13, 613656
Red KCNK18 in Adult onset neurodegenerative disorder


Version 4.47
Latest signed off version: v4.34 (31 Jul 2023)

review Unknown
Sources
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13
Red KCNK18 in Hereditary ataxia with onset in adulthood


Version 4.34
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • Brain channelopathy v1.46
Phenotypes
  • Susceptibility to migraine with/without arua 13, 613656
  • MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13
Red KCNK18 in Adult onset dystonia, chorea or related movement disorder


Version 3.18
Latest signed off version: v3.12 (31 Jul 2023)

review Not set
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13
Red KCNK18 in Childhood onset dystonia, chorea or related movement disorder


Version 3.77
Latest signed off version: v3.0 (22 Mar 2023)

review Unknown
Sources
  • South West GLH
  • Expert Review Red
  • London North GLH
Phenotypes
  • MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13