Genes in panel

Neurodegenerative disorders - adult onset

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

5 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Migraine, not neurodegeneration. Red
Created: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99

Mode of inheritance
Unknown

Phenotypes
MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Red List (low evidence)

Associated with migraine with aura phenotype
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72

Mode of inheritance
Unknown

Phenotypes
MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13

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

Red List (low evidence)

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 5:35 p.m.
Review and rating from Anthony Dallosso (Bristol Genetics Laboratory), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 3:05 p.m.

Anthony Dallosso (Bristol Genetics Laboratory)

Red List (low evidence)

1 family with familial migraine with aura (20871611)
Created: 23 Apr 2019, 2:42 p.m.

Mode of inheritance
Unknown

Phenotypes
MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13

Details

Mode of Inheritance
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
OMIM
613655
Clinvar variants
Variants in KCNK18
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Sep 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to KCNK18.

23 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to KCNK18.

27 Apr 2019, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: kcnk18 has been classified as Red List (Low Evidence).

23 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to KCNK18.

23 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to KCNK18.

23 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to KCNK18.

25 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Gene awaiting curator evaluati

18 Dec 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

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