Sudden death in young people
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
Rebecca Foulger (Genomics England curator)
Note that KCND3 is a red gene on the Brugada panel, but is included on this 'Sudden death in young people' panel because of the 'Sudden cardiac death' phenotype reported by Emory and GeneReviews.Created: 6 Dec 2016, 2:44 p.m.
Using DNA samples from 123 cases of sudden unexplained death, Giudicessi et al. (2012) (PMID:22457051) analyzed the KCND3 gene and identified heterozygosity for missense mutations in 2 cases, the G600R mutation in 1 case and a V392I mutation in the other. The V392I mutation was shown to be a gain-of-function change in functional studies, which also confirmed the gain-of-function nature of the G600R mutation.Created: 29 Nov 2016, 10:09 a.m.
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Other
- Phenotypes
-
- sudden unexplained death
- arrhythmia
- sudden cardiac arrest
- OMIM
- 605411
- Clinvar variants
- Variants in KCND3
- Penetrance
- Complete
- Publications
- 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
19 Dec 2016, Gel status: 1
panel promoted to version 1
Ellen Thomas (Genomics England Curator)This panel contains genes which aren't arrhythmic or metabolic causes of sudden death with normal post mortem.
19 Dec 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
29 Nov 2016, Gel status: 1
Added New Source
Rebecca Foulger (Genomics England curator)KCND3 was added to Sudden death in young peoplepanel. Source: Emory Genetics Laboratory
29 Nov 2016, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)KCND3 was created by rfoulger
29 Nov 2016, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)KCND3 was added to Sudden death in young peoplepanel. Sources: Other