Sudden death in young people

Gene: KCND3

Red List (low evidence)

KCND3 (potassium voltage-gated channel subfamily D member 3)
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

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