Sudden death in young people
Gene: KCND2EnsemblGeneIds (GRCh38): ENSG00000184408
EnsemblGeneIds (GRCh37): ENSG00000184408
OMIM: 605410, Gene2Phenotype
KCND2 is in 4 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
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.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Rebecca Foulger (Genomics England curator)KCND2 was added to Sudden death in young peoplepanel. Source: Other
Created
Rebecca Foulger (Genomics England curator)KCND2 was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)KCND2 was added to Sudden death in young peoplepanel. Sources: Radboud University Medical Center, Nijmegen