Hereditary ataxia - adult onsetGene: KCNQ2
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.
Predominantely associated with seizures, however ataxia reported amongst the phenotype in some patients (e.g PMID 22169383)
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early infantile encephalopathy 7, 613720
Added phenotypes Early infantile encephalopathy 7, 613720 for gene: KCNQ2
Source NHS GMS was added to KCNQ2.
Source Wessex and West Midlands GLH was added to KCNQ2.
Checked panel against panel constituents. Ready to promote to version 1.
gene: KCNQ2 was added gene: KCNQ2 was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNQ2 were set to Myokymia, 121200