Hereditary ataxia - adult onsetGene: KCNC3
On Oxford and Sheffield panels. 6 DM on HGMD.
Created: 27 Apr 2019, 7:39 p.m.
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) 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.
Multiple cases and variants reported in literature
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Spinocerebellar ataxia 13, 605259
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Source London North GMS was added to KCNC3.
Added phenotypes Spinocerebellar ataxia 13, 605259 for gene: KCNC3
Source NHS GMS was added to KCNC3.
Source Wessex and West Midlands GLH was added to KCNC3.
Checked panel against panel constituents. Ready to promote to version 1.
gene: KCNC3 was added gene: KCNC3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: KCNC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNC3 were set to Spinocerebellar ataxia 13