Sudden death in young people
Gene: SLC6A4

SLC6A4 (solute carrier family 6 member 4)
EnsemblGeneIds (GRCh38): ENSG00000108576
EnsemblGeneIds (GRCh37): ENSG00000108576
OMIM: 182138, Gene2Phenotype
SLC6A4 is in 4 panels

1 review

Rebecca Foulger (Genomics England curator)

SLC6A4 (5-HTT) may be a risk factor for sudden death: polymorphisms in the 5' regulatory region differ between SIDS victims and controls; In a haplotype analysis, PMID:12966525 showed that an intron 2 polymorphism (12-repeat allele), which also differentially regulates 5-HTT expression, was associated with increased risk of SIDS in African American but not Caucasian SIDS cases.
Created: 29 Nov 2016, 10:16 a.m.

Mode of pathogenicity
Other

Created: 29 Nov 2016, 10:16 a.m.

Panel version: 0.5

Details

Mode of Inheritance

Unknown

Sources

Literature

Phenotypes

Sudden infant death syndrome

OMIM

182138

Clinvar variants

Variants in SLC6A4

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 0

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.

29 Nov 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

SLC6A4 was created by rfoulger