Adult onset neurodegenerative disorder
Gene: KCNK18EnsemblGeneIds (GRCh38): ENSG00000186795
EnsemblGeneIds (GRCh37): ENSG00000186795
OMIM: 613655, Gene2Phenotype
KCNK18 is in 6 panels
5 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
Migraine, not neurodegeneration. RedCreated: 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)
Associated with migraine with aura phenotypeCreated: 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)
Louise Daugherty (Genomics England Curator)
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)
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
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to KCNK18.
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to KCNK18.
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: kcnk18 has been classified as Red List (Low Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to KCNK18.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to KCNK18.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to KCNK18.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Gene awaiting curator evaluati
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