Familial Meniere Disease
Gene: AQP4Comment when marking as ready: Several publications report APQ4 expression in supporting cells of the inner ear, including changes in expression levels in Meniere's disease patients, but no reported association between variants in this gene and Meniere's disease. Awaiting further evidence.Created: 13 Mar 2018, 11:13 a.m.
Comment on publications: PMID:25766597 AQP4 expression in cochlear supporting cellsCreated: 13 Mar 2018, 10:39 a.m.
Comment on publications: PMID:26208470 Function of APQ4 in mouse earCreated: 8 Mar 2018, 5:25 p.m.
Several microRNA in the perilymph of patients with MD tag this gene (unpublished findings)Created: 20 Feb 2018, 5:07 p.m.
Mode of inheritance
Unknown
Phenotypes
Meniere disease
Variants in this GENE are reported as part of current diagnostic practice
External reviews collated. Internal clinical input. Ready for version 1.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Publications for AQP4 were set to 28787010; 26208470; 25766597; 23352976; 22732097; 20461409; 19096777; 9875338
Publications for AQP4 were set to 28787010; 26208470; 25766597
Publications for AQP4 were set to 28787010; 26208470
AQP4 was added to Familial Meniere Disease panel. Sources: Literature
AQP4 was created by Eleanor Williams