Hereditary ataxia - adult onsetGene: KCNK18
Only 1 family on OMIM/HGMD Lafreniere et al. (2010) - migraine with aura is the wrong phenotype.
Created: 27 Apr 2019, 7:39 p.m.
This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels -Hereditary ataxia v1.148 - Brain channelopathy v1.46. This gene was RED and external expert review from Wessex and West Midlands GLH and London North GLH for GMS Neurology specialist test group for R54 agrees this gene should remain RED
Created: 19 Jun 2019, 5:02 p.m.
Review and rating submitted byJames Polke (London North NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
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.
Created: 15 Apr 2019, 10:21 a.m.
One pathogenic variant in a single family - no mention of ataxia in phenotype. Not appropriate for this panel
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Susceptibility to migraine with/without arua 13, 613656
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Mode of inheritance for gene: KCNK18 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: kcnk18 has been classified as Red List (Low Evidence).
Source London North GMS was added to KCNK18.
Added phenotypes Susceptibility to migraine with/without arua 13, 613656 for gene: KCNK18
Source NHS GMS was added to KCNK18.
Source Wessex and West Midlands GLH was added to KCNK18.
Louise Daugherty: Comment on phenotypes: Implica
gene: KCNK18 was added gene: KCNK18 was added to Hereditary ataxia - adult onset. Sources: Expert Review Amber,Brain channelopathy v1.46 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