Short QT syndrome
Gene: KCND3
KCND3 (potassium voltage-gated channel subfamily D member 3)
EnsemblGeneIds (GRCh38): ENSG00000171385
EnsemblGeneIds (GRCh37): ENSG00000171385
OMIM: 605411, Gene2Phenotype
KCND3 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000171385
EnsemblGeneIds (GRCh37): ENSG00000171385
OMIM: 605411, Gene2Phenotype
KCND3 is in 11 panels
1 review
Sarah Leigh (Genomics England Curator)
Not associated with Short QT phenotype in OMIM or in Gen2Phen, listed on the Brugada syndrome panel (Version 1.7).Created: 15 Nov 2018, 12:10 p.m.
Details
- Sources
-
- Brugada syndrome (Version 1.7)
- OMIM
- 605411
- Clinvar variants
- Variants in KCND3
- Penetrance
- None
- Panels with this gene
-
- Adult onset neurodegenerative disorder
- Sudden death in young people
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Short QT syndrome
- DDG2P
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Brugada syndrome and cardiac sodium channel disease
History Filter Activity
20 Nov 2018, Gel status: 1
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)Sarah Leigh: Not associated with Short QT p
15 Nov 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance
Sarah Leigh (Genomics England Curator)gene: KCND3 was added gene: KCND3 was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7) Mode of inheritance for gene: KCND3 was set to