Hereditary ataxia with onset in adulthood
Gene: KCND3
On Oxford and Sheffield panels. 20 DM in 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 in literature, caution required as AD variants also associated with Brugade syndrome 9 (OMIM 616399) - variants do not seem to overlap between disordersCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 19, 607346
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 KCND3.
Added phenotypes Spinocerebellar ataxia 19, 607346 for gene: KCND3
Source NHS GMS was added to KCND3.
Source Wessex and West Midlands GLH was added to KCND3.
Checked panel against panel constituents. Ready to promote to version 1.
gene: KCND3 was added gene: KCND3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: KCND3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCND3 were set to Spinocerebellarataxia19, 607346