Adult onset neurodegenerative disorder
Gene: KCND3EnsemblGeneIds (GRCh38): ENSG00000171385
EnsemblGeneIds (GRCh37): ENSG00000171385
OMIM: 605411, Gene2Phenotype
KCND3 is in 11 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
SCA19 (also known as SCA22) is an autosomal dominant, adult-onset, very slowly progressive form of cerebellar ataxia: >3 cases - greenCreated: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellarataxia19,607346
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Adult onsetCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellarataxia19,607346
Variants in this GENE are reported as part of current diagnostic practice
Louise Daugherty (Genomics England Curator)
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. All the green and amber, except for the genes with triplet repeats, were reviewed.Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 5:35 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Wessex and West Midlands GLH
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Phenotypes
-
- Spinocerebellarataxia19, OMIM:607346
- OMIM
- 605411
- Clinvar variants
- Variants in KCND3
- Penetrance
- None
- Panels with this gene
-
- Sudden death in young people
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Brugada syndrome and cardiac sodium channel disease
- Ataxia and cerebellar anomalies - narrow panel
- Short QT syndrome
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Hereditary ataxia
- Adult onset neurodegenerative disorder
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: KCND3 were changed from Spinocerebellarataxia19,607346 to Spinocerebellarataxia19, OMIM:607346
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to KCND3.
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to 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 London North GLH was added to KCND3.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Louise Daugherty: Comment on phenotypes: amended
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: KCND3 was added gene: KCND3 was added to Neurodegenerative disorders - adult onset. Sources: 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