Hereditary ataxia with onset in adulthood
Gene: KCND3EnsemblGeneIds (GRCh38): ENSG00000171385
EnsemblGeneIds (GRCh37): ENSG00000171385
OMIM: 605411, Gene2Phenotype
KCND3 is in 11 panels
3 reviews
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
On Oxford and Sheffield panels. 20 DM in HGMD.Created: 27 Apr 2019, 7:39 p.m.
Louise Daugherty (Genomics England Curator)
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.
Tracy Lester (Genetics laboratory, Oxford UK)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
- Phenotypes
-
- Spinocerebellar ataxia 19, 607346
- Spinocerebellarataxia19, 607346
- OMIM
- 605411
- Clinvar variants
- Variants in KCND3
- Penetrance
- None
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Short QT syndrome
- Childhood onset dystonia, chorea or related movement disorder
- Brugada syndrome and cardiac sodium channel disease
- Early onset or syndromic epilepsy
- Hereditary ataxia
- Adult onset neurodegenerative disorder
- Intellectual disability
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Sudden death in young people
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GMS was added to KCND3.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Spinocerebellar ataxia 19, 607346 for gene: KCND3
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to KCND3.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to KCND3.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked panel against panel constituents. Ready to promote to version 1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)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