Sudden death in young people

Gene: KCND2

Red List (low evidence)

KCND2 (potassium voltage-gated channel subfamily D member 2)
EnsemblGeneIds (GRCh38): ENSG00000184408
EnsemblGeneIds (GRCh37): ENSG00000184408
OMIM: 605410, Gene2Phenotype
KCND2 is in 3 panels

2 reviews

Ellen Thomas (Genomics England Curator)

Comment on list classification: Insufficient evidence to date.
Created: 19 Dec 2016, 4:21 p.m.

Rebecca Foulger (Genomics England curator)

PMID:25214526 (2014) identify a mutation in the KCND2 gene, p.D612N, in a single patient with J-wave syndrome, and exhibiting a gain-of-function phenotype. No other mutations appear to have been reported.
Created: 29 Nov 2016, 10:06 a.m.

Mode of pathogenicity
Other

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • J-wave syndrome with sudden cardiac death
  • sudden arrhythmic death
  • sudden cardiac arrest
OMIM
605410
Clinvar variants
Variants in KCND2
Penetrance
Complete
Panels with this gene

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).

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)

KCND2 was added to Sudden death in young peoplepanel. Source: Other

29 Nov 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

KCND2 was created by rfoulger

29 Nov 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

KCND2 was added to Sudden death in young peoplepanel. Sources: Radboud University Medical Center, Nijmegen