Sudden death in young people

Gene: AQP4

No list

AQP4 (aquaporin 4)
EnsemblGeneIds (GRCh38): ENSG00000171885
EnsemblGeneIds (GRCh37): ENSG00000171885
OMIM: 600308, Gene2Phenotype
AQP4 is in 3 panels

1 review

Rebecca Foulger (Genomics England curator)

Comment on list classification: Changed rating from red to grey: There is only one relevant paper, and it describes an association, not a pathogenic variant: PMID:20351659 revealed an association between the T allele and the CT/TT genotypes of rs2075575 and SIDS (C versus T, p < 0.01; CC versus CT/TT, p = 0.03). For the other three investigated SNPs (rs4800773, rs162004, and rs3763043), there were no differences in genotype frequencies between SIDS cases and controls.
Created: 6 Dec 2016, 4:32 p.m.


Mode of Inheritance
  • Expert Review Removed
  • Literature
  • sudden infant death syndrome
  • SIDS
Clinvar variants
Variants in AQP4
Panels with this gene

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: AQP4.

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.

6 Dec 2016, Gel status: 0

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been removed from the panel.

6 Dec 2016, Gel status: 0


Rebecca Foulger (Genomics England curator)

AQP4 was created by rfoulger

6 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

AQP4 was added to Sudden death in young peoplepanel. Sources: Literature