Sudden death in young peopleGene: KCND3
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
This panel contains genes which aren't arrhythmic or metabolic causes of sudden death with normal post mortem.
This gene has been classified as Red List (Low Evidence).
KCND3 was added to Sudden death in young peoplepanel. Source: Emory Genetics Laboratory
KCND3 was created by rfoulger
KCND3 was added to Sudden death in young peoplepanel. Sources: Other