Hereditary ataxia - adult onsetGene: KCNQ3
Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Created: 19 Sep 2019, 1:15 p.m. | Last Modified: 19 Sep 2019, 1:15 p.m.
Panel Version: 1.201
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.
Looks to be largely associated with benign seizures that resolve within 2 months of life. However, there does seem to be rare reports in the lit of longer term epilepsy including ataxia as part of the phenotype (e.g. PMID 25524373)
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Benign neonatal seizures 2, 121201
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Gene: kcnq3 has been classified as Amber List (Moderate Evidence).
Mode of pathogenicity for gene: KCNQ3 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added phenotypes Benign neonatal seizures 2, 121201 for gene: KCNQ3
Source NHS GMS was added to KCNQ3.
Source Wessex and West Midlands GLH was added to KCNQ3.
Checked panel against panel constituents. Ready to promote to version 1.
gene: KCNQ3 was added gene: KCNQ3 was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: KCNQ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNQ3 were set to Seizures, benign neonatal, type 2, 121201