Sudden death in young people
Gene: AQP4
AQP4 (aquaporin 4)
EnsemblGeneIds (GRCh38): ENSG00000171885
EnsemblGeneIds (GRCh37): ENSG00000171885
OMIM: 600308, Gene2Phenotype
AQP4 is in 3 panels
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.
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Removed
- Literature
- Phenotypes
-
- sudden infant death syndrome
- SIDS
- Tags
- OMIM
- 600308
- Clinvar variants
- Variants in AQP4
- Penetrance
- Complete
- Publications
- 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
Created
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